C565588||Epidermolysis Bullosa With Diaphragmatic Hernia
C567755|613097||Tooth Agenesis, Selective, 6|STHAG6
C565584||Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
C565585||Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
C565587||Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation
145250||HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2|FPH|FPH2|HPP|MELANOSIS UNIVERSALIS HEREDITARIA|MUH
D065008||Scorpion Stings|Scorpionism|Scorpionisms|Scorpion Sting|Sting, Scorpion|Stings, Scorpion
C566466|610508||Maturity-Onset Diabetes of the Young, Type 7|MODY7
C567393|612225||Maturity-Onset Diabetes Of The Young, Type 9|MODY9
C567842|612955||Long Qt Syndrome 12|LQT12
C567296|115300||Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant|CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1, INCLUDED
C565591||Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia
D001819||Bluetongue|Blue Tongue|Tongue, Blue
C565592||Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
C565594||Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
C564263||Craniosynostosis with Ocular Abnormalities and Hallucal Defects
C564262||Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities|Anomalous Pulmonary Venous Return, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
D055677||Refeeding Syndrome|Syndrome, Refeeding
C564261||Lelis Syndrome|Ectodermal Dysplasia, Hypohidrotic, with Acanthosis Nigricans
D053018||Pyonephrosis|Hydronephrosis, Infected|Infected Hydronephrosis
C564267||Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant
C564264||Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
613162||SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE|SPG45
C565596||Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
C565597||Encephalomalacia, Multilocular
270400|D019082||Smith-Lemli-Opitz Syndrome|7-Dehydrocholesterol Reductase Deficiencies|7-Dehydrocholesterol Reductase Deficiency|Acrodysgenital Syndrome, Lethal|Acrodysgenital Syndromes, Lethal|Deficiencies, 7-Dehydrocholesterol Reductase|Deficiency, 7-Dehydrocholesterol Reductase|Hyperotosis Corticalis Generalisata Familiaris|Lethal Acrodysgenital Syndrome|Lethal Acrodysgenital Syndromes|Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung|Reductase Deficiencies, 7-Dehydrocholesterol|Reductase Deficiency, 7-Dehydrocholesterol|RSH SLO Syndrome|RSH-SLO Syndrome|RSH-SLO Syndromes|RSH Syndrome|RSH Syndromes|Rutledge Friedman Harrod Syndrome|Rutledge Lethal Multiple Congenital Anomaly Syndrome|SLOS|SLO Syndrome|SLO Syndromes|Smith Lemli Opitz Syndrome|Smith Lemli Opitz syndrome, type 1|Smith-Lemli-Opitz Syndrome, Type 1|Smith Lemli Opitz Syndrome, Type 2|Smith-Lemli-Opitz Syndrome, Type 2|Smith Lemli Opitz Syndrome, Type I|Smith-Lemli-Opitz Syndrome, Type I|Smith Lemli Opitz Syndrome, Type II|Smith-Lemli-Opitz Syndrome, Type II|Syndrome, Lethal Acrodysgenital|Syndrome, RSH|Syndrome, SLO|Syndromes, RSH|Syndromes, SLO
C565598||Elliptocytosis, Atypical
C535421|604563||Charcot-Marie-Tooth disease, Type 4B2|Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2|Charcot-Marie-Tooth Neuropathy, Type 4B2|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED|CMT4B2
D016080||Arachnoid Cysts|Arachnoid Cyst, Intracranial|Arachnoid Cysts, Intracranial|Arachnoid Diverticula|Arachnoid Diverticulas|Cyst, Arachnoid|Cyst, Intracranial Arachnoid|Cyst, Leptomeningeal|Cysts, Arachnoid|Cysts, Intracranial Arachnoid|Cysts, Leptomeningeal|Diverticula, Arachnoid|Diverticulas, Arachnoid|Intracranial Arachnoid Cyst|Intracranial Arachnoid Cysts|Leptomeningeal Cyst|Leptomeningeal Cysts
D030361||Papillomavirus Infections|Papillomavirus Infection
D013801||Theileriasis|Coast Fever, East|Corridor Disease|Disease, Corridor|East Coast Fever|Fever, East Coast|Theileriases|Theilerioses|Theileriosis
C564271||Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
C565567||Fibromatosis, Gingival, with Distinctive Facies
C566898||Peripapillary Atrophy, Beta Type|Beta-PPA|Peripapillary Chorioretinal Atrophy, Beta Type
C564233||Glaucoma 1, Open Angle, E
C565568||Myofibromatosis, Juvenile
C564232||Glaucoma and Sleep Apnea
C||Diseases
C565569||Fever, Familial Lifelong Persistent
D016055||Urinary Retention|Retention, Urinary
613150||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2|MDDGA2|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
C565562||Fraser-Like Syndrome|Fused Eyelids, Airway Anomalies, Ovarian Cysts, and Digital Anomalies
C566893||Gangliosidosis, Generalized GM1, Late-Infantile Type
613151||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3|MDDGB3|MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
C565563||Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly
D017380||Hypertrophy, Right Ventricular|Hypertrophies, Right Ventricular|Right Ventricular Hypertrophies|Right Ventricular Hypertrophy|Ventricular Hypertrophies, Right|Ventricular Hypertrophy, Right
C564237||Giant Platelet Syndrome with Thrombocytopenia
613152||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4|MDDGB4|MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
C565564||Fleck Retina, Familial Benign
C566895||Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement|Gm1 Gangliosidosis, Type I, with Cardiac Involvement
613153||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5|MDDGA5|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
C566896||Myopathy, Congenital, With Excess Of Muscle Spindles
C564235||Glaucoma with Elevated Episcleral Venous Pressure
613154||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6|MDDGA6|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
613155||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1|MDDGB1|MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
613156||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2|MDDGB2|MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
613157||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3|LGMD2O|MDDGC3|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O
C564239||Geographic Tongue and Fissured Tongue
613158||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2|LGMD2N|MDDGC2|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N
D004067||Digestive System Neoplasms|Cancer, Digestive System|Cancer of Digestive System|Cancer of the Digestive System|Cancers, Digestive System|Digestive System Cancer|Digestive System Cancers|Digestive System Neoplasm|Neoplasm, Digestive System|Neoplasms, Digestive System
613159||NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1|NPHPL1
C565114|125350||Failure of Tooth Eruption, Primary|Dental Noneruption|PFE|Posterior Openbite, Familial|Primary Failure of Eruption, Nonsyndromic|Primary Retention of Teeth|Unerupted Second Primary Molar
D004066||Digestive System Diseases|Digestive System Disease|Disease, Digestive System|Diseases, Digestive System|System Disease, Digestive|System Diseases, Digestive
C567559|612796||Inflammatory Bowel Disease 27|IBD27
D017092|263700||Porphyria, Erythropoietic|CEP|Congenital Erythropoietic Porphyria|Congenital Erythropoietic Porphyrias|Deficiency of Uroporphyrinogen III Synthase|Erythropoietic Porphyria|Erythropoietic Porphyria, Congenital|Erythropoietic Porphyrias|Erythropoietic Porphyrias, Congenital|Gunther Disease|Gunther&apos;s Disease|Gunthers Disease|Porphyria, Congenital Erythropoietic|Porphyria, Erythropoietic, Congenital|Porphyrias, Congenital Erythropoietic|Porphyrias, Erythropoietic|UROPORPHYRINOGEN III SYNTHASE DEFICIENCY|Uroporphyrinogen III Synthase, Deficiency of|UROS Deficiency
C536447|604931||Cortisone reductase deficiency|11-beta-hydroxysteroid dehydrogenase, type i, deficiency of|CORTISONE REDUCTASE DEFICIENCY 1|CORTRD1
C535708||Manouvrier syndrome|Lung agenesis heart defect thumb anomalies|Pulmonary aplasia and triphalangia of the thumb
C563699|609558||Prostate Cancer, Hereditary, 6|HPC6
C535709||Manz syndrome|Familial hypomagnesemia - hypercalciuria
D054364||Solitary Fibrous Tumors|Fibrous Tumor, Solitary|Fibrous Tumors, Solitary|Solitary Fibrous Tumor|Tumor, Solitary Fibrous|Tumors, Solitary Fibrous
C566983|611252||Spastic Paraplegia 32, Autosomal Recessive|SPG32
D054363||Solitary Fibrous Tumor, Pleural|Benign Fibrous Mesothelioma|Benign Fibrous Mesotheliomas|Fibromas, Submesothelial|Fibroma, Submesothelial|Fibrous Mesothelioma|Fibrous Mesothelioma, Benign|Fibrous Mesothelioma, Localized|Fibrous Mesotheliomas|Fibrous Mesotheliomas, Benign|Fibrous Mesotheliomas, Localized|Fibrous Mesothelioma, Solitary|Fibrous Mesotheliomas, Solitary|Localized Fibrous Mesothelioma|Localized Fibrous Mesotheliomas|Localized Mesothelioma|Localized Mesotheliomas|Mesothelioma, Benign Fibrous|Mesothelioma, Fibrous|Mesothelioma, Localized|Mesothelioma, Localized Fibrous|Mesotheliomas, Benign Fibrous|Mesotheliomas, Fibrous|Mesotheliomas, Localized|Mesotheliomas, Localized Fibrous|Mesothelioma, Solitary Fibrous|Mesotheliomas, Solitary Fibrous|Solitary Fibrous Mesothelioma|Solitary Fibrous Mesotheliomas|Solitary Fibrous Tumor of the Pleura|Submesothelial Fibroma|Submesothelial Fibromas
C535700||Malignant mesenchymal tumor|Malignant mesenchymoma
C565572||Estren-Dameshek Variant of Fanconi Anemia|Fanconi Anemia, Estren-Dameshek Variant
C564241||Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
C535701||Malignant Teratocarcinosarcoma|Paranasal sinus teratocarcinosarcoma|Paranasal sinus teratocarcinosarcoma (type)|Sinonasal teratocarcinosarcoma|Sinonasal teratocarcinosarcoma (type)
C535704||Malpuech facial clefting syndrome|Facial clefting syndrome, Gypsy type|Malpuech syndrome
D017379||Hypertrophy, Left Ventricular|Hypertrophies, Left Ventricular|Left Ventricular Hypertrophies|Left Ventricular Hypertrophy|Ventricular Hypertrophies, Left|Ventricular Hypertrophy, Left
C535703||Malouf syndrome|Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism|Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome|Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism
D053039||Ureterolithiasis|Ureterolithiases
C565577||Familial Multiple Coagulation Factor Deficiency I|F5f8d|Factor V And Factor VIII, Combined Deficiency Of|Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor|Fmfd1|Fmfd I|Mcfd1|Multiple Coagulation Factor Deficiency I
D016063||Blood Loss, Surgical|Hemorrhage, Surgical|Surgical Blood Loss|Surgical Blood Losses|Surgical Hemorrhage|Surgical Hemorrhages
C565578||Faciocardiomelic Dysplasia, Lethal
C564244||Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
C565579||Facial Dysmorphism with Multiple Malformations
D016066||Pleural Effusion, Malignant|Effusion, Malignant Pleural|Effusions, Malignant Pleural|Malignant Pleural Effusion|Malignant Pleural Effusions|Pleural Effusions, Malignant
C565573||Estren-Dameshek Variant of Fanconi Pancytopenia
C564247||Microcephaly, Primary Autosomal Recessive, 6
C563824|608957||CD8 Deficiency, Familial
D053040||Nephrolithiasis
D030341||Nidovirales Infections
C535719||Duker Weiss Siber syndrome
C535718||Dubowitz syndrome|Dwarfism-eczema-peculiar facies syndrome
C536414|259900||Primary hyperoxaluria type 1|Alanine-glyoxylate aminotransferase deficiency|Glycolic aciduria|Hepatic AGT Deficiency|HP1|Hyperoxaluria, Primary, Type I|Oxalosis 1|Oxalosis I|Peroxisomal alanine glyoxylate aminotransferase deficiency|Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency|Serine:Pyruvate Aminotransferase Deficiency
C565580||Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
D019305|117100||Epilepsy, Rolandic|BCECTS|BECTS|Benign Childhood Epilepsy With Centro Temporal Spikes|Benign Childhood Epilepsy With Centro-Temporal Spikes|Benign Epilepsy Of Childhood With Centrotemporal Spikes|Benign Epilepsy With Centrotemporal Spikes|Benign Rolandic Epilepsy|Benign Rolandic Epilepsy of Childhood|Centralopathic Epilepsies|Centralopathic Epilepsy|Centrotemporal Epilepsies|Centrotemporal Epilepsy|ECT|Epilepsies, Centralopathic|Epilepsies, Centrotemporal|Epilepsies, Rolandic|Epilepsy, Benign Rolandic|Epilepsy, Centralopathic|Epilepsy, Centrotemporal|Epilepsy, Rolands|Epilepsy, Sylvian|Rolandic Epilepsies|Rolandic Epilepsy|Rolandic Epilepsy, Benign|Rolands Epilepsy|Sylvian Epilepsy|Temporal-Central Focal Epilepsy
C535711||Maple syrup urine disease, type 1B
C567710|613195||Weill-Marchesani-Like Syndrome
C535710||Maple syrup urine disease, type 1A
C535713||Opitz Reynolds Fitzgerald syndrome
D030342||Genetic Diseases, Inborn|Defect, Single-Gene|Defects, Single-Gene|Disease, Hereditary|Disease, Inborn Genetic|Diseases, Hereditary|Diseases, Inborn Genetic|Genetic Disease, Inborn|Hereditary Disease|Hereditary Diseases|Inborn Genetic Disease|Inborn Genetic Diseases|Single-Gene Defect|Single Gene Defects|Single-Gene Defects
C535712||Maple syrup urine disease, type 2
C535714||Neuropathy, congenital, with arthrogryposis multiplex|Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex
C565544||GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
C567045|610947||Coronary Artery Disease, Autosomal Dominant 2|ADCAD2
C566876||Mental Retardation, X-Linked 79
C564211||Granddad Syndrome|Growth Retardation, Aged Facies, Normal Development, Decreased Subcutaneous Fat, Autosomal Dominant Inheritance
C566877||Mental Retardation, X-Linked, With Spasticity
C567316|612422||Cardiomyopathy, Familial Restrictive, 3|Rcm3
C564210||Granulomatous Disease, Chronic, Autosomal Dominant Type
D013262|608579||Stevens-Johnson Syndrome|Drug Induced Stevens Johnson Syndrome|Drug-Induced Stevens Johnson Syndrome|Drug-Induced Stevens-Johnson Syndrome|Drug-Induced Stevens-Johnson Syndromes|Epidermal Necrolyses, Toxic|Epidermal Necrolysis, Toxic|HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO, INCLUDED|Lyell&apos;s Syndrome|Lyell&apos;s Syndromes|Lyell Syndrome|Mycoplasma Induced Stevens Johnson Syndrome|Mycoplasma-Induced Stevens Johnson Syndrome|Mycoplasma-Induced Stevens-Johnson Syndrome|Necrolyses, Toxic Epidermal|Necrolysis, Toxic Epidermal|Nonstaphylococcal Scalded Skin Syndrome|Scalded Skin Syndrome, Nonstaphylococcal|SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO|Stevens Johnson Syndrome|Stevens-Johnson Syndrome, Drug-Induced|Stevens-Johnson Syndrome, Mycoplasma-Induced|Stevens-Johnson Syndromes, Drug-Induced|STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO, INCLUDED|Stevens Johnson Syndrome Toxic Epidermal Necrolysis|Stevens-Johnson Syndrome Toxic Epidermal Necrolysis|Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum|Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum|Syndrome, Lyell&apos;s|Syndrome, Mycoplasma-Induced Stevens-Johnson|Syndromes, Lyell&apos;s|Toxic Epidermal Necrolyses|Toxic Epidermal Necrolysis|Toxic Epidermal Necrolysis Stevens Johnson Syndrome|Toxic Epidermal Necrolysis Stevens-Johnson Syndrome|Toxic Epidermal Necrolysis Stevens Johnson Syndrome Spectrum|Toxic Epidermal Necrolysis Stevens-Johnson Syndrome Spectrum|TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO, INCLUDED
C565540||GSD IV, Nonprogressive Hepatic
C565541||GSD IV, Neuromuscular Form, Fatal Perinatal
C566872||Dilution, Pigmentary|Albinoidism, Oculocutaneous, Autosomal Dominant
C564215||Glyoxalase II Deficiency
C565542||GSD IV, Neuromuscular Form, Congenital
C566873||Hereditary bundle branch system defect|Cardiac conduction defect, progressive|Heart block progressive, familial|Heart block, progressive familial, type 1|Heart Block, Progressive Familial, Type I|Lenegre Lev disease|Lenegre-Lev Disease|Pfhb1a|Pfhbi|PfhbIa|Progressive Familial Heart Block, Type Ia
C564214||Goniodysgenesis-Mental Retardation-Short Stature Syndrome|GMS Syndrome
C565543||GSD IV, Neuromuscular Form, Childhood
C564218||Glutathione Reductase, Hemolytic Anemia due to Deficiency of, in Red Cells
607677|C535416||Charcot-Marie-Tooth disease, Type 2I|Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l|Charcot-Marie-Tooth disease, axonal, Type 2I|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I|CMT2I|CMT 2I|Cmt2l
C564217||Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to
C565548||Bernard-Soulier Syndrome, Type A
C566879||Xeroderma Pigmentosum, Type G/Cockayne Syndrome|Xpg/Cs
C565549||Bernard-Soulier Syndrome, Type B
D005383||Finger Injuries|Finger Injury|Injuries, Finger|Injury, Finger
602481||MIGRAINE, FAMILIAL HEMIPLEGIC, 2|FHM2|MHP2 MIGRAINE, FAMILIAL BASILAR, INCLUDED
602482||AXENFELD-RIEGER SYNDROME, TYPE 3|ANTERIOR CHAMBER CLEAVAGE SYNDROME|ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS|AXENFELD-RIEGER ANOMALY, INCLUDED|AXENFELD-RIEGER ANOMALY WITH OR WITHOUT CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS|RIEG3|RIEGER ANOMALY, INCLUDED|RIEGER SYNDROME, TYPE 3 AXENFELD ANOMALY, INCLUDED
D017359||HELLP Syndrome|Hemolysis, Elevated Liver Enzymes, Lowered Platelets|Syndrome, HELLP
C566880||Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria
C565550||Bernard-Soulier Syndrome, Type C
C565715|610155||Diabetes Mellitus, Insulin-Dependent, 19|IDDM19
C565555||Gaucher Disease, Type IIIb
C564292|608097||Heterotopia, Periventricular, Autosomal Recessive|ARPHM|HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE|Periventricular Heterotopia with Microcephaly, Autosomal Recessive|Periventricular Nodular Heterotopia 2|PVNH2
C565556||Gaucher Disease, Norrbottnian Type
C566888||Humeroradial Synostosis with Craniofacial Anomalies
C564221||Glucocorticoid Receptor Deficiency|Body Composition, Beneficial|Cortisol Resistance from Glucocorticoid Receptor Defect|GCCR Deficiency|GCR Deficiency|Glucocorticoid Resistance|Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
C565558||Fructose and Galactose Intolerance
C566889||Glycogen Storage Disease IIIA|GSD IIIA
C566878|300673||Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations|Mecp2-Related Severe Neonatal Encephalopathy
D013915|273800||Thrombasthenia|BDPLT2|BLEEDING DISORDER, PLATELET-TYPE, 2|Deficiency of GP 2b 3a Complex|Glanzmann Thrombasthenia|Glanzmann Thrombasthenia, Type A|Glycoprotein Complex IIb IIIa, Deficiency Of|Glycoprotein Complex IIb-IIIa, Deficiency Of|GP IIb IIIa Complex, Deficiency Of|GP IIb-IIIa Complex, Deficiency Of|GT|Platelet Fibrinogen Receptor, Deficiency of|Platelet Glycoprotein 2b 3a Deficiency|Platelet Glycoprotein 2b-3a Deficiency|Platelet Glycoprotein IIb IIIa Deficiency|Platelet Glycoprotein IIb-IIIa Deficiency|Thrombasthenia, Glanzmann|Thrombasthenia of Glanzmann and Naegeli|Thrombasthenias
C565239|606282||Deafness, Autosomal Dominant 24|DFNA24
C566884||Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
C565554||Gaucher Disease, Type IIIa
C566885||Lactic Acidosis, Fatal Infantile
C564229||Globulin Anomaly involving Beta (2A)-Globulin
D004057||Hyperostosis, Diffuse Idiopathic Skeletal|Ankylosing Hyperostoses, Vertebral|Ankylosing Hyperostosis, Vertebral|Ankylosing Vertebral Hyperostosis with Tylosis|Diffuse Idiopathic Skeletal Hyperostosis|Disease, Forestier|Disease, Forestier-Rotes|Disease, Forestier&apos;s|Forestier Disease|Forestier Rotes Disease|Forestier-Rotes Disease|Forestier&apos;s Disease|Forestiers Disease|Hyperostoses, Vertebral Ankylosing|Hyperostosis, Vertebral Ankylosing|Vertebral Ankylosing Hyperostoses|Vertebral Ankylosing Hyperostosis
246650|C535904||Lipase deficiency combined|Lipase Deficiency, Combined|Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|Lpl And Hl Deficiency|Lpl And Htgl Deficiency
D005393||Fish Diseases|Disease, Fish|Diseases, Fish|Fish Disease
C536133|249000||Meckel syndrome type 1|Dysencephalia splachnocystica|Dysencephalia Splanchnocystica|Gruber syndrome|Meckel Gruber syndrome|Meckel-Gruber Syndrome|Meckel-Gruber Syndrome, Type 1|Meckel Syndrome|Meckel syndrome type1|Meckel Syndrome, Type 1|MES|MKS|MKS1
C567780|114200||Camptodactyly 1|CAMPD1|Camptodactyly And Knuckle Pads|CAMPTODACTYLY AND KNUCKLE PADS STREBLODACTYLY, INCLUDED
D004065||Digestive System Abnormalities|Abnormalities, Digestive System|Abnormality, Digestive System|Digestive System Abnormality
D054391||Lymphoma, Extranodal NK-T-Cell|Extranodal NK T Cell Lymphoma|Extranodal NK-T-Cell Lymphoma|Extranodal NK T Cell Lymphoma, Nasal|Extranodal NK-T-Cell Lymphoma, Nasal|Extranodal NK T Cell Lymphoma, Nasal and Nasal Type|Extranodal NK-T-Cell Lymphoma, Nasal and Nasal-Type|Extranodal NK T Cell Lymphoma, Nasal Type|Extranodal NK-T-Cell Lymphoma, Nasal Type|Extranodal NK-T-Cell Lymphomas|Lymphoma, Extranodal NK T Cell|Lymphomas, Extranodal NK-T-Cell|NK-T-Cell Lymphoma, Extranodal|NK-T-Cell Lymphomas, Extranodal
208100|C536614||Arthrogryposis multiplex congenita neurogenic type|AMCN|AMC, neurogenic type|Arthrogryposis Multiplex Congenita, Neurogenic Type|Neurogenic type of AMC
C576203||Alcohol fetopathy
D005391||Firesetting Behavior|Arson|Arsons|Behavior, Firesetting|Behaviors, Firesetting|Firesetting Behaviors|Pyromania|Pyromanias
C566890||Glycogen Storage Disease IIIB|GSD IIIB
C566891||Glycogen Storage Disease IIIC|GSD IIIC
C566892||Glycogen Storage Disease IIID|GSD IIID
C564230||Glioma of Brain, Familial
C565522||Hemolytic Anemia with Thermal Sensitivity of Red Cells
C541598||Chromosome 11p Deletion Syndrome|11p Deletion Syndrome
C563683|610329||Aicardi-Goutieres Syndrome 3|AGS3
C565521||Hemolytic Uremic Syndrome, Typical
D050805||Wandering Spleen|Displaced Spleen|Displaced Spleens|Drifting Spleen|Drifting Spleens|Floating Spleen|Floating Spleens|Ptoses, Splenic|Ptosis, Splenic|Spleen, Displaced|Spleen, Drifting|Spleen, Floating|Spleens, Displaced|Spleens, Drifting|Spleens, Floating|Spleens, Wandering|Spleen, Wandering|Splenic Ptoses|Splenic Ptosis|Splenoptoses|Splenoptosis|Wandering Spleens
D005358||Fibrous Dysplasia, Monostotic|Dysplasia, Monostotic Fibrous|Dysplasias, Monostotic Fibrous|Fibrous Dysplasias, Monostotic|Monostotic Fibrous Dysplasia|Monostotic Fibrous Dysplasias
D005357||Fibrous Dysplasia of Bone|Bone Fibrous Dysplasia|Bone Fibrous Dysplasias|Osteitis Fibrosa Disseminata
D005354||Fibrosarcoma|Fibrosarcomas
C566858||Copper-Overload Cirrhosis
D004022||Dictyocaulus Infections|Dictyocauliases|Dictyocauliasis|Dictyocaulus Infection|Infection, Dictyocaulus|Infections, Dictyocaulus
C565528||Growth Retardation, Small and Puffy Hands and Feet, and Eczema
D005356||Fibromyalgia|Diffuse Myofascial Pain Syndrome|Fibromyalgia Fibromyositis Syndrome|Fibromyalgia-Fibromyositis Syndrome|Fibromyalgia-Fibromyositis Syndromes|Fibromyalgia, Primary|Fibromyalgias|Fibromyalgia, Secondary|Fibromyalgias, Primary|Fibromyalgias, Secondary|Fibromyositis Fibromyalgia Syndrome|Fibromyositis-Fibromyalgia Syndrome|Fibromyositis-Fibromyalgia Syndromes|Fibrositides|Fibrositis|Muscular Rheumatism|Myofascial Pain Syndrome, Diffuse|Primary Fibromyalgia|Primary Fibromyalgias|Rheumatism, Muscular|Secondary Fibromyalgia|Secondary Fibromyalgias|Syndrome, Fibromyalgia-Fibromyositis|Syndrome, Fibromyositis-Fibromyalgia|Syndromes, Fibromyalgia-Fibromyositis|Syndromes, Fibromyositis-Fibromyalgia
C565529||Growth Factors, Combined Defect of|Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency|Werner-Like Syndrome due to Combined Growth Factor Deficiency
D005355||Fibrosis|Cirrhosis|Fibroses
C563462|600649||Carnitine Palmitoyltransferase II Deficiency, Infantile|Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular|Carnitine Palmitoyltransferase II Deficiency with Hypoketotic Hypoglycemia|CPT2 Deficiency, Infantile|CPT II Deficiency, Hepatic
D006685||Hoarseness|Hoarsenesses|Hoarseness, Neurogenic|Hoarseness of Voice|Hoarseness, Voice|Neurogenic Hoarseness|Neurogenic Hoarsenesses|Voice Hoarseness
D004030||Dientamoebiasis|Dientamoebiases
C535819|177170||Pseudoachondroplasia|PSACH|Pseudoachondroplastic dysplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia|Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome|Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
D006691||Classical Swine Fever|Cholera, Hog|Hog Cholera|Swine Fever|Swine Fever, Classical
C566864||Heterotaxy, Visceroatrial, Autosomal Recessive
C564201||Hemangiomas of Small Intestine
C565534||Granulomatous Disease with Defect in Neutrophil Chemotaxis
C566865||Ataxia-Telangiectasia Variant
C564200||Heme Oxygenase 1 Deficiency
C565535||Granulocytopenia with Immunoglobulin Abnormality
C565196|610698||Macular Degeneration, Age-Related, 4|ARMD4
C565536||Gonadal Dysgenesis, XY Type, with Associated Anomalies
D050815||Fractures, Compression|Compression Fracture|Compression Fractures|Fracture, Compression
C565530||Grouped Pigmentation of the Macula|Grouped Pigmentation of Retinal Pigment Epithelium
C566861||Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome|CAMAK Syndrome
C566862||Polyasplenia|Asplenia with Cardiovascular Abnormalities
C564202||Progressive Familial Heart Block, Type II|PFHB2|PFHBII
C564209||Graying of Hair, Precocious|White Hair, Premature
D005368||Filariasis|Elaeophoriases|Elaeophoriasis|Filariases|Filarioidea Infection|Filarioidea Infections|Infection, Filarioidea|Infections, Filarioidea
C564207||Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
C564206||Achromatopsia 4
C565538||Glycoprotein Storage Disease
C565539||GSD IV, Classic Hepatic
C564699|606545||Ichthyosis, Lamellar, 5|ARCI3|COLLODION BABY, SELF-HEALING|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3|ICHTHYOSIS, LAMELLAR, 5, FORMERLY|Lamellar Ichthyosis, Type 5|LI5, FORMERLY
230400||GALACTOSEMIA GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY|GALT DEFICIENCY|GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT
C567507|611878||Cardiomyopathy, Dilated, 1y|CMD1Y|LEFT VENTRICULAR NONCOMPACTION 9, INCLUDED|LVNC9, INCLUDED
C536778|212140||Systemic carnitine deficiency|Carnitine deficiency, primary|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|Carnitine deficiency, systemic primary|Carnitine Transporter Deficiency|Carnitine transporter, plasma-membrane, deficiency of|Carnitine uptake defect|Carnitine Uptake Deficiency|CDSP|CUD|Primary Carnitine Deficiency|Renal Carnitine Transport Defect|SCD|SYSTEMIC CARNITINE DEFICIENCY
D013132|248800||Spinocerebellar Degenerations|Ataxia, Hereditary|Ataxias, Hereditary|Cerebellar Ataxia, Early Onset|Cerebellar Ataxia, Late Onset|Cerebellar Ataxia, Marie|Cerebellar Ataxia, Marie&apos;s|Cerebellar Degeneration, Primary|Cerebellar Degenerations, Primary|Corticostriatal Spinal Degeneration|Corticostriatal-Spinal Degeneration|Corticostriatal-Spinal Degenerations|Degeneration, Corticostriatal-Spinal|Degeneration, Familial Spinocerebellar|Degeneration, Hereditary Spinocerebellar|Degeneration, Inherited Spinocerebellar|Degeneration, Primary Cerebellar|Degenerations, Corticostriatal-Spinal|Degenerations, Familial Spinocerebellar|Degenerations, Hereditary Spinocerebellar|Degenerations, Inherited Spinocerebellar|Degeneration, Spinocerebellar|Degeneration, Spino Cerebellar|Degeneration, Spino-Cerebellar|Degenerations, Primary Cerebellar|Degenerations, Spinocerebellar|Degenerations, Spino Cerebellar|Early Onset Cerebellar Ataxia|Familial Spinocerebellar Degeneration|Familial Spinocerebellar Degenerations|Garland Moorhouse Syndrome|Garland-Moorhouse Syndrome|Hereditary Ataxia|Hereditary Ataxias|Hereditary Oligophrenic Cerebello Lental Degeneration|Hereditary Oligophrenic Cerebello-Lental Degeneration|Hereditary Spinocerebellar Degeneration|Hereditary Spinocerebellar Degenerations|Hypogonadism, Marinesco-Sjogren Syndrome-Hypergonadotrophic|Inherited Spinocerebellar Degeneration|Inherited Spinocerebellar Degenerations|Late Onset Cerebellar Ataxia|Marie Cerebellar Ataxia|Marie&apos;s Cerebellar Ataxia|Marinesco Garland Syndrome|Marinesco-Garland Syndrome|Marinesco Sjogren Garland Syndrome|Marinesco-Sjogren-Garland Syndrome|Marinesco Sjogren Syndrome|Marinesco-Sjogren Syndrome|Marinesco Sj&#246;gren Syndrome|Marinesco-Sj&#246;gren Syndrome|Marinesco Sjogren Syndrome Hypergonadotrophic Hypogonadism|Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism|Marinesco Sjogren Syndrome Myopathy|Marinesco-Sjogren Syndrome-Myopathy|MSS|Primary Cerebellar Degeneration|Primary Cerebellar Degenerations|Spinocerebellar Degeneration|Spino Cerebellar Degeneration|Spino-Cerebellar Degeneration|Spinocerebellar Degeneration, Familial|Spinocerebellar Degeneration, Hereditary|Spinocerebellar Degeneration, Inherited|Spino Cerebellar Degenerations|Spino-Cerebellar Degenerations|Spinocerebellar Degenerations, Familial|Spinocerebellar Degenerations, Hereditary|Spinocerebellar Degenerations, Inherited|Spinocerebellar Disease|Spinocerebellar Diseases|Syndrome, Garland-Moorhouse|Syndrome-Hypergonadotrophic Hypogonadism, Marinesco-Sjogren|Syndrome, Marinesco-Garland|Syndrome, Marinesco-Sjogren|Syndrome, Marinesco-Sj&#246;gren|Syndrome, Marinesco-Sjogren-Garland|Syndrome-Myopathy, Marinesco-Sjogren
C535695|154275||Malignant hyperthermia susceptibility type 2|Malignant hyperpyrexia susceptibility type 2|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2|MHS2
D018677||Tooth Injuries|Injuries, Teeth|Injuries, Tooth|Injury, Teeth|Injury, Tooth|Teeth Injuries|Teeth Injury|Tooth Injury
C565500||Hyperlexia|Compulsive Reading|Precocious Reading
C566831||Paragangliomas with Sensorineural Hearing Loss
C565501||Breastfeeding Jaundice
C566832||Papillomatosis, Familial Cutaneous
C562903|243060||Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa|Infertility Associated with Multi-Tailed Spermatozoa and Excessive DNA|MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA|SPERMATOGENIC FAILURE 5|SPGF5
C565502||Hydroxylysinuria
C566834||Panic Disorder with Bladder Conditions
C562924|179850||dowling-degos disease|dark dot disease|DDD|DDD1|DOWLING-DEGOS DISEASE 1|Dowling-Degos-Kitamura Disease|Kitamura Reticulate Acropigmentation|Reticular Pigment Anomaly of Flexures|Reticulate Acropigmentation of Kitamura
C565509||Humeroradial Multiple Synostosis Syndrome
D005335||Fever of Unknown Origin|Unknown Origin Fever|Unknown Origin Fevers
606408|C536193||Ehlers-Danlos syndrome caused by tenascin-X deficiency|EDS DUE TO TNX DEFICIENCY|Ehlers-Danlos-like syndrome due to tenascin-X deficiency|TNX DEFICIENCY
167000|D010051||Ovarian Neoplasms|Cancer of Ovary|Cancer of the Ovary|Cancer, Ovarian|Cancer, Ovary|Cancers, Ovarian|Cancers, Ovary|Neoplasm, Ovarian|Neoplasm, Ovary|Neoplasms, Ovarian|Neoplasms, Ovary|Ovarian Cancer|OVARIAN CANCER, EPITHELIAL, INCLUDED|Ovarian Cancers|OVARIAN CANCER, SUSCEPTIBILITY TO, 1|Ovarian Neoplasm|Ovary Cancer|Ovary Cancers|Ovary Neoplasm|Ovary Neoplasms|OVCAS1
C566835||Panic Disorder with Joint Laxity
D016584|167870||Panic Disorder|Attack, Panic|Attacks, Panic|Disorder, Panic|Disorders, Panic|PAND1|PAND2|PAND3|Panic Attack|Panic Attacks|PANIC DISORDER 1|PANIC DISORDER 2|PANIC DISORDER 3|PANIC DISORDER PANIC DISORDER WITH BLADDER CONDITIONS, INCLUDED|Panic Disorders|PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED|PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 4q-RELATED|PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED|PANIC DISORDER WITH JOINT LAXITY, INCLUDED
C565505||Muscular Dystrophy, Congenital, plus Mental Retardation
C565485|240600||Glycogen Storage Disease 0, Liver|GSD 0a|GSD0A|Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver|Liver Glycogen Storage Disease 0|Liver Glycogen Synthase Deficiency
D005331||Fetomaternal Transfusion|Fetomaternal Hemorrhage|Fetomaternal Hemorrhages|Fetomaternal Transfusions|Hemorrhage, Fetomaternal|Hemorrhages, Fetomaternal|Transfusion, Fetomaternal|Transfusions, Fetomaternal
C566836||Pancytopenia and Occlusive Vascular Disease
277730|D020915||Korsakoff Syndrome|ALCOHOL-INDUCED ENCEPHALOPATHY|Korsakoff Psychoses|Korsakoff Psychosis|Psychoses, Korsakoff|Psychosis, Korsakoff|Syndrome, Korsakoff|Syndromes, Wernicke-Korsakoff|Syndrome, Wernicke-Korsakoff|TRANSKETOLASE DEFECT|Wernicke Korsakoff Syndrome|Wernicke-Korsakoff Syndrome|Wernicke-Korsakoff Syndromes
C565506||Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
D005334||Fever|Fevers|Hyperthermia|Hyperthermias|Pyrexia|Pyrexias
C566837||Pancreatitis, Calcific
C565507||Hydranencephaly with Renal Aplasia-Dysplasia
C567371|612279||Generalized Epilepsy With Febrile Seizures Plus, Type 6|GEFS+6|GEFSP6|GEFS, Type 6|GEFS+, TYPE 6
D053099||Azotemia
D019973||Alcohol-Related Disorders|Alcohol-Related Disorder|Alcohol Related Disorders|Disorder, Alcohol-Related|Disorders, Alcohol-Related
C565512||Mthfr Deficiency, Thermolabile Type
274150|D011697||Purpura, Thrombotic Thrombocytopenic|Congenital Thrombotic Thrombocytopenic Purpura|Disease, Moschcowitz|Disease, Moschkowitz|Familial Thrombotic Microangiopathy|Familial Thrombotic Thrombocytopenia Purpura|Familial Thrombotic Thrombocytopenic Purpura|MICROANGIOPATHIC HEMOLYTIC ANEMIA|Microangiopathic Hemolytic Anemia, Congenital|Microangiopathy, Familial Thrombotic|Moschcowitz Disease|Moschkowitz Disease|Purpura, Thrombotic Thrombopenic|Schulman Upshaw Syndrome|Schulman-Upshaw Syndrome|Syndrome, Schulman-Upshaw|Syndrome, Upshaw-Schulman|Thrombocytopenic Purpura, Thrombotic|Thrombopenic Purpura, Thrombotic|Thrombotic Microangiopathy, Familial|Thrombotic Thrombocytopenic Purpura|Thrombotic Thrombocytopenic Purpura, Congenital|Thrombotic Thrombocytopenic Purpura, Familial|Thrombotic Thrombopenic Purpura|TTP|Upshaw Factor, Deficiency of|Upshaw Schulman Syndrome|Upshaw-Schulman Syndrome|USS
C565513||Homocystinuria, Pyridoxine-Responsive
C566844||Thanatophoric Dysplasia, Type I|Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type|Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
C565514||Holoprosencephaly 1
C563321|601412||Deafness, Autosomal Dominant 7|DFNA7
304790|C562780||Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked|Autoimmunity-Immunodeficiency Syndrome, X-Linked|Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea|Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked|DMSD|Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy|IDDM-Secretory Diarrhea Syndrome|IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FORMERLY ISLETS OF LANGERHANS, ABSENCE OF, INCLUDED|IPEX|Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked|XLAAD|X-Linked Autoimmunity-Allergic Dysregulation Syndrome|XPID
107250|C537775||Anterior segment mesenchymal dysgenesis|Anterior segment ocular dysgenesis|ASMD|ASOD
D020966||Muscular Disorders, Atrophic|Atrophic Muscular Disorder|Atrophic Muscular Disorders|Atrophies, Disuse|Atrophies, Spinobulbar|Atrophies, Spinobulbar Muscular|Atrophies, Spinopontine|Atrophy, Disuse|Atrophy, Muscular, Spinobulbar|Atrophy, Spinobulbar|Atrophy, Spinobulbar Muscular|Atrophy, Spinopontine|Disorder, Atrophic Muscular|Disorders, Atrophic Muscular|Disuse Atrophies|Disuse Atrophy|Muscular Atrophies, Spinobulbar|Muscular Atrophy, Spinobulbar|Muscular Disorder, Atrophic|Spinal and Bulbar Muscular Atrophy|Spinobulbar Atrophies|Spinobulbar Atrophy|Spinobulbar Muscular Atrophies|Spinobulbar Muscular Atrophy|Spinopontine Atrophies|Spinopontine Atrophy
C537464|309800||Microphthalmia, syndromic 1|Lenz Dysmorphogenic Syndrome|Lenz dysplasia|Lenz microphthalmia syndrome|Lenz Syndrome|MAA, FORMERLY|MCOPS1|Microphthalmia Or Anophthalmos with Associated Anomalies|Microphthalmia or anophthalmos with associated anomalies (formerly)
D006679||HIV Seropositivity|AIDS Seroconversion|AIDS Seroconversions|AIDS Seropositivities|AIDS Seropositivity|Antibody Positivities, HIV|Antibody Positivity, HIV|Anti-HIV Positivities|Anti HIV Positivity|Anti-HIV Positivity|HIV Antibody Positivities|HIV Antibody Positivity|HIV Seroconversion|HIV Seroconversions|HIV Seropositivities|HTLV III Seroconversion|HTLV-III Seroconversion|HTLV-III Seroconversions|HTLV-III Seropositivities|HTLV III Seropositivity|HTLV-III Seropositivity|Positivities, Anti-HIV|Positivities, HIV Antibody|Positivity, Anti-HIV|Positivity, HIV Antibody|Seroconversion, AIDS|Seroconversion, HIV|Seroconversion, HTLV-III|Seroconversions, AIDS|Seroconversions, HIV|Seroconversions, HTLV-III|Seropositivities, AIDS|Seropositivities, HIV|Seropositivities, HTLV-III|Seropositivity, AIDS|Seropositivity, HIV|Seropositivity, HTLV-III
D020964||Embryo Loss|Blastocyst Disintegration|Death, Embryo|Disintegration, Blastocyst|Disintegration of Blastocyst|Disintegration of Embryo|Embryo Death|Embryo Deaths|Embryo Disintegration|Embryo Resorption|Resorption, Embryo
D006677||Histrionic Personality Disorder|Disorder, Histrionic Personality|Disorders, Histrionic Personality|Histrionic Personality Disorders|Hysterical Personalities|Hysterical Personality|Personalities, Hysterical|Personality Disorder, Histrionic|Personality Disorders, Histrionic|Personality, Hysterical
D005348||Fibrocystic Breast Disease|Adenoses, Microglandular|Adenosis, Microglandular|Adenosis of Breast|Breast Adenosis|Breast Cystic Disease|Breast Cystic Diseases|Breast Disease, Cystic|Breast Disease, Fibrocystic|Breast Dysplasia|Breast Fibrocystic Change|Breast Fibrocystic Changes|Breast Fibrocystic Disease|Chronic Cystic Mastitis|Cystic Breast Disease|Cystic Disease of Breast|Cystic Mastitis, Chronic|Disease, Cystic Breast|Disease, Fibrocystic Breast|Dysplasia, Breast|Dysplasia, Mammary|Fibrocystic Changes of Breast|Fibrocystic Disease of Breast|Fibrocystic Mastopathy|Mammary Dysplasia|Mastopathy, Fibrocystic|Microglandular Adenoses|Microglandular Adenosis
D004011||Dicrocoeliasis|Dicrocoeliases
C565517||Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
612782|C557826||Immune dysfunction with T-cell inactivation due to calcium entry defect 1|IMD9|IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1|IMMUNODEFICIENCY 9
C565518||Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
D005350||Fibroma|Fibromas|Fibromatoses|Fibromatosis|Fibromyxoma|Fibromyxomas|Myxofibroma|Myxofibromas
C564423|305800||Membranoproliferative Glomerulonephritis, X-Linked|Mesangiocapillary Glomerulonephritis, X-Linked
D005352||Fibromuscular Dysplasia|Dysplasia, Fibromuscular|Dysplasias, Fibromuscular|Fibromuscular Dysplasias
D005351||Fibromatosis, Gingival|Fibromatoses, Gingival|Fibromatosis Gingivae|Gingival Fibromatoses|Gingival Fibromatosis
D020969||Disease Attributes|Attribute, Disease|Attributes, Disease|Disease Attribute
D020967||Myotonic Disorders|Congenita, Paramyotonia|Disease, Eulenburg|Disease, Eulenburg&apos;s|Disorder, Myotonic|Disorders, Myotonic|Eulenburg Disease|Eulenburg&apos;s Disease|Eulenburgs Disease|Fluctuans, Myotonia|Myopathies, Myotonic|Myopathies, Proximal Myotonic|Myopathy, Myotonic|Myopathy, Proximal Myotonic|Myotonia Fluctuans|Myotonic Disorder|Myotonic Myopathies|Myotonic Myopathies, Proximal|Myotonic Myopathy|Myotonic Myopathy, Proximal|Paramyotonia Congenita|Paramyotonia Congenitas|PROMM (Proximal Myotonic Myopathy)|PROMMs (Proximal Myotonic Myopathy)|Proximal Myotonic Myopathies|Proximal Myotonic Myopathy
609981||NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT|NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED|NKCD|NKGCD
C566452|610048||Corneal Dystrophy, Congenital Stromal|Congenital Hereditary Stromal Dystrophy of the Cornea|Congenital Stromal Corneal Dystrophy|Congenital Stromal Dystrophy of the Cornea|CSCD|Decorin-Associated Congenital Stromal Corneal Dystrophy|Dystrophia Corneae Parenchymatosa Congenita
D018658||Ventricular Septal Rupture|Septal Ruptures, Ventricular|Septal Rupture, Ventricular|Ventricular Septal Perforation|Ventricular Septal Ruptures
C563785|609153||Pseudohyperkalemia, Familial, 2, due to Red Cell Leak|PSEUDOHYPERKALEMIA CHISWICK|PSEUDOHYPERKALEMIA FALKIRK|Pseudohyperkalemia Lille|PSHK2
C566810||Wegener-Like Granulomatosis
C566811||Pelvis-Shoulder Dysplasia|Kosenow Syndrome|Scapuloiliac Dysostosis
144200|D053546||Keratoderma, Palmoplantar, Epidermolytic|Epidermolytic Hyperkeratoses, Localized|Epidermolytic Hyperkeratosis, Localized|Epidermolytic Palmoplantar Keratoderma|Epidermolytic Palmoplantar Keratodermas|Epidermolytic Palmoplantar Keratoderma Vorner Type|Epidermolytic Thost-Unna Disease|Epidermolytic Unna-Thost Disease|EPPK|EPPK (Epidermolytic Palmoplantar Keratoderma)|EPPKs (Epidermolytic Palmoplantar Keratoderma)|Greither Keratosis|Hyperkeratoses, Localized Epidermolytic|Hyperkeratosis, Localized Epidermolytic|Keratoderma, Epidermolytic Palmoplantar|Keratodermas, Epidermolytic Palmoplantar|Keratosis of Greither|KERATOSIS OF GREITHER PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED|KERATOSIS PALMARIS ET PLANTARIS FAMILIARIS|Localized Epidermolytic Hyperkeratoses|Localized Epidermolytic Hyperkeratosis|Palmoplantar Keratoderma, Epidermolytic|Palmoplantar Keratodermas, Epidermolytic|PALMOPLANTAR KERATODERMA, VORNER TYPE|Thost Unna Disease, Epidermolytic|Thost-Unna Disease, Epidermolytic|TYLOSIS|Unna Thost Disease, Epidermolytic|Unna-Thost Disease, Epidermolytic
D019960||Elimination Disorders|Disorder, Elimination|Disorders, Elimination|Elimination Disorder
C536943|186570||NOG-Related-Symphalangism Spectrum Disorder|Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly|Brachydactyly, Type B2|Deafness-symphalangism syndrome of Herrmann|Facioaudiosymphalangism syndrome|Multiple synostoses syndrome 1|Stapes Ankylosis Syndrome Without Symphalangism|Stapes Ankylosis With Broad Thumb And Toes|Symphalangism-brachydactyly syndrome|Synostoses, multiple, with brachydactyly|SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED|Tarsal carpal coalition syndrome|Tarsal-Carpal Coalition Syndrome|TCC|Teunissen-Cremers Syndrome
C566812||Pelvic Lipomatosis with Crossed Renal Ectopia
D005317||Fetal Growth Retardation|Growth Retardation, Fetal|Growth Retardation, Intrauterine|Intrauterine Growth Retardation|IUGR|Retardation, Fetal Growth|Retardation, Intrauterine Growth
D007979||Levocardia|Isolated Levocardia|Levocardia, Isolated|Situs Inversus with Levocardia
C566817||Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
D020955||Striatonigral Degeneration|Atrophies, Striatonigral|Atrophy, Striatonigral|Degeneration, Striatonigral|Striatonigral Atrophies|Striatonigral Atrophy|Striatonigral Degenerations
D006646||Histiocytosis, Langerhans-Cell|Aleukemic Reticuloendothelioses, Systemic|Aleukemic Reticuloendotheliosis, Systemic|Cell Granulomatoses, Langerhans|Cell Granulomatosis, Langerhans|Cell Histiocytoses, Langerhans|Cell Histiocytosis, Langerhans|Disease, Hand-Schueller-Christian|Disease, Hand-Sch&#252;ller-Christian|Disease, Letterer-Siwe|Disease, Schueller-Christian|Generalized Histiocytoses|Generalized Histiocytosis|Granulomatoses, Langerhans Cell|Granulomatosis, Langerhans Cell|Granulomatosis, Langerhans-Cell|Hand Schueller Christian Disease|Hand-Schueller-Christian Disease|Hand Schueller Christian Syndrome|Hand-Schueller-Christian Syndrome|Hand Sch&#252;ller Christian Disease|Hand-Sch&#252;ller-Christian Disease|Hand Sch&#252;ller Christian Syndrome|Hand-Sch&#252;ller-Christian Syndrome|Hashimoto-Pritzger Disease|Histiocytoses, Generalized|Histiocytoses, Langerhans Cell|Histiocytoses, Type 2|Histiocytosis, Generalized|Histiocytosis, Langerhans Cell|Histiocytosis, Type 2|Histiocytosis X|Histiocytosis-X|Histiocytosis X, Pulmonary|Langerhans Cell Granulomatoses|Langerhans Cell Granulomatosis|Langerhans-Cell Granulomatosis|Langerhans Cell Granulomatosis, Pulmonary|Langerhans Cell Histiocytoses|Langerhans Cell Histiocytosis|Langerhans-Cell Histiocytosis|Letterer Siwe Disease|Letterer-Siwe Disease|Non-Lipid Reticuloendothelioses|Non Lipid Reticuloendotheliosis|Non-Lipid Reticuloendotheliosis|Pulmonary Histiocytosis X|Pulmonary Langerhans Cell Granulomatosis|Reticuloendothelioses, Non-Lipid|Reticuloendothelioses, Systemic Aleukemic|Reticuloendotheliosis, Non-Lipid|Reticuloendotheliosis, Systemic Aleukemic|Schueller Christian Disease|Schueller-Christian Disease|Syndrome, Hand-Schueller-Christian|Syndrome, Hand-Sch&#252;ller-Christian|Systemic Aleukemic Reticuloendothelioses|Systemic Aleukemic Reticuloendotheliosis|Type 2 Histiocytoses|Type 2 Histiocytosis
D005313||Fetal Death|Death, Fetal|Fetal Deaths|Fetal Mummification|Fetal Mummifications|Mummification, Fetal|Mummifications, Fetal
D005316||Fetal Distress|Fetal Status, Nonreassuring|Nonreassuring Fetal Status
D020953||Neuroaspergillosis|Aspergillosis, Nervous System Invasive|Nervous System Invasive Aspergillosis|Neuroaspergilloses
D005315||Fetal Diseases|Disease, Fetal|Diseases, Fetal|Embryopathies|Embryopathy|Fetal Disease
C538320|235800||Histidinemia|Deficiency in Histidase|HAL Deficiency|HIS DEFICIENCY|Histidase deficiency|Histidine ammonia-lyase deficiency|Hyperhistidinemia
C566813||Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant|Multiple Sclerosis-Like Disorder|Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type
D007973||Leukorrhea|Leukorrheas
C566814||Pechet Factor Deficiency|Dynia Factor Deficiency
C565377|251600||Microphthalmia, Isolated 1|ANOPHTHALMIA, CLINICAL, ISOLATED|MCOP|MCOP1|Microphthalmos, Autosomal Recessive
D007971||Leukoplakia|Lesion, Leukoplakic|Lesions, Leukoplakic|Leukokeratoses|Leukokeratosis|Leukoplakias|Leukoplakic Lesion|Leukoplakic Lesions
D005311||Fetal Hypoxia|Anoxia, Fetal|Fetal Anoxia|Hypoxia, Fetal
C566816||Patella, Familial Recurrent Dislocation Of
D007972||Leukoplakia, Oral|Keratosis, Oral|Leukokeratoses, Oral|Leukokeratosis, Oral|Leukoplakias, Oral|Oral Leukokeratoses|Oral Leukokeratosis|Oral Leukoplakia|Oral Leukoplakias
D019959||Feeding and Eating Disorders of Childhood|Childhood Eating and Feeding Disorders|Disorder, Rumination|Rumination Disorder|Rumination Disorders
D019958||Attention Deficit and Disruptive Behavior Disorders|Behavior Disorder, Disruptive|Defiant Disorder, Oppositional|Disruptive Behavior Disorder|Oppositional Defiant Disorder
D019955||Conduct Disorder|Conduct Disorders
D019954||Neurobehavioral Manifestations|Cognitive Manifestation|Cognitive Manifestations|Cognitive Symptom|Cognitive Symptoms|Manifestation, Cognitive|Manifestation, Neurobehavioral|Manifestations, Cognitive|Manifestations, Neurobehavioral|Neurobehavioral Manifestation|Neurobehavioral Signs and Symptoms|Signs and Symptoms, Neurobehavioral|Symptom, Cognitive|Symptoms, Cognitive
D019957||Motor Skills Disorders|Coordination Disorder, Developmental|Developmental Coordination Disorder|Developmental Coordination Disorders|Motor Skills Disorder
D019956||Stereotypic Movement Disorder|Body Rocking|Head Banging|Movement Disorder, Stereotypic|Stereotypic Movement Disorders
605841|D009290||Narcolepsy|Gelineau&apos;s Syndrome|Gelineaus Syndrome|Gelineau&apos;s Syndromes|Gelineau Syndrome|NARCOLEPSY 2, SUSCEPTIBILITY TO|NARCOLEPSY 3|NARCOLEPSY 4, SUSCEPTIBILITY TO|NARCOLEPSY 5, SUSCEPTIBILITY TO|NARCOLEPSY 6, SUSCEPTIBILITY TO|Narcolepsy Cataplexy Syndrome|Narcolepsy-Cataplexy Syndrome|Narcolepsy-Cataplexy Syndromes|Narcoleptic Syndrome|Narcoleptic Syndromes|NRCLP2|NRCLP3|NRCLP4|NRCLP5|NRCLP6|Paroxysmal Sleep|Sleep, Paroxysmal|Syndrome, Gelineau|Syndrome, Gelineau&apos;s|Syndrome, Narcolepsy-Cataplexy|Syndrome, Narcoleptic|Syndromes, Gelineau&apos;s|Syndromes, Narcolepsy-Cataplexy|Syndromes, Narcoleptic
D002583|603956||Uterine Cervical Neoplasms|Cancer, Cervix|Cancer of Cervix|Cancer of the Cervix|Cancer of the Uterine Cervix|Cancers, Cervix|Cancers, Uterine Cervical|Cancer, Uterine Cervical|Cervical Cancer|Cervical Cancers, Uterine|Cervical Cancer, Uterine|Cervical Neoplasm|Cervical Neoplasms|Cervical Neoplasms, Uterine|Cervical Neoplasm, Uterine|Cervix Cancer|Cervix Neoplasm|Cervix Neoplasms|Neoplasm, Cervical|Neoplasm, Cervix|Neoplasms, Cervical|Neoplasms, Cervix|Neoplasms, Uterine Cervical|Neoplasm, Uterine Cervical|Uterine Cervical Cancer|Uterine Cervical Cancers|Uterine Cervical Neoplasm
D019952||Mental Disorders Diagnosed in Childhood|Child Mental Disorder|Child Mental Disorders|Disorder, Child Mental|Disorders, Child Mental|Disorders Usually Diagnosed in Infancy, Childhood or Adolescence|Mental Disorder, Child|Mental Disorders, Child
C566820||Passovoy Factor
C566821||Parotidomegaly, Hereditary Bilateral
D018640||Stomatognathic System Abnormalities|Abnormalities, Stomatognathic System|Abnormality, Stomatognathic System|Stomatognathic System Abnormality
C566823||Parkinson Disease, Familial, Type 1|Atypical Parkinson Disease|Lewy Body Parkinsonism|Parkinson Disease, Autosomal Dominant
D019970||Cocaine-Related Disorders|Abuse, Cocaine|Addiction, Cocaine|Cocaine Abuse|Cocaine Addiction|Cocaine Dependence|Cocaine-Related Disorder|Cocaine Related Disorders|Dependence, Cocaine|Dependences, Cocaine|Disorder, Cocaine-Related|Disorders, Cocaine-Related
D005329||Fetishism (Psychiatric)|Fetishisms (Psychiatric)
607154|C567078||Allergic Rhinitis|ALRH
D020943||AIDS Arteritis, Central Nervous System|AIDS Associated Cerebral Aneurysmal Arteriopathy|AIDS-Associated Cerebral Aneurysmal Arteriopathy|Central Nervous System AIDS Arteritis|Cerebral Aneurysmal Arteriopathy, AIDS Associated|Cerebral Aneurysmal Arteriopathy, AIDS-Associated|CNS Vasculitides, HIV-1-Associated|CNS Vasculitides, HIV-Associated|CNS Vasculitis, HIV-1-Associated|CNS Vasculitis, HIV Associated|CNS Vasculitis, HIV-Associated|HIV-1-Associated CNS Vasculitides|HIV 1 Associated CNS Vasculitis|HIV-1-Associated CNS Vasculitis|HIV-Associated CNS Vasculitides|HIV-Associated CNS Vasculitis|HIV Associated Vasculitis of the Central Nervous System|HIV-Associated Vasculitis of the Central Nervous System|Vasculitides, HIV-1-Associated CNS|Vasculitides, HIV-Associated CNS|Vasculitis, HIV-1-Associated CNS|Vasculitis, HIV-Associated CNS|Vasculitis of the Central Nervous System, HIV Associated|Vasculitis of the Central Nervous System, HIV-Associated
D005327||Fetal Resorption|Fetal Resorptions|Resorption, Fetal|Resorptions, Fetal
D020941||Myasthenia Gravis, Neonatal|Antenatal Myasthenia Gravis|Myasthenia Gravis, Antenatal|Myasthenia Gravis, Neonatal, Persistent|Myasthenia Gravis, Neonatal, Transient|Myasthenia Gravis, Persistent, Neonatal|Myasthenia Gravis, Transient, Neonatal|Neonatal Myasthenia Gravis|Neonatal Myasthenia Gravis, Persistent|Neonatal Myasthenia Gravis, Transient|Persistent Neonatal Myasthenia Gravis|Transient Neonatal Myasthenia Gravis
D007984||Leydig Cell Tumor|Interstitial Cell Tumor|Interstitial Cell Tumors|Tumor, Interstitial Cell|Tumor, Leydig Cell|Tumors, Interstitial Cell
D005320||Fetal Macrosomia|Fetal Macrosomias|Macrosomia, Fetal|Macrosomias, Fetal
C538322|602782||Histiocytosis with joint contractures and sensorineural deafness|Faisalabad histiocytosis|HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS|HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME|HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS|HJCD|H SYNDROME|Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss|PHID|PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS|Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Syndrome|ROSAI-DORFMAN DISEASE, FAMILIAL|SHML|SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY
D005322||Fetal Membranes, Premature Rupture|Membrane Premature Rupture (Pregnancy)|Membrane Premature Ruptures (Pregnancy)|Premature Rupture of Fetal Membranes|Premature Rupture of Membrane (Pregnancy)|Preterm Premature Rupture of Fetal Membranes|Preterm PROM (Pregnancy)|PROM (Pregnancy)|PROM, Preterm (Pregnancy)
C566827||Parietal Foramina 1
D006660||Histoplasmosis|Histoplasmoses
C566465|609636||Alzheimer Disease 10|Ad10|Alzheimer Disease, Familial, 10
D005330||Fetofetal Transfusion|Cross Transfusion, Intrauterine|Cross-Transfusion, Intrauterine|Cross-Transfusions, Intrauterine|Fetal Transfusion Syndrome|Fetal Transfusion Syndromes|Fetofetal Transfusions|Fetofetal Transfusion Syndrome|Fetofetal Transfusion Syndromes|Intrauterine Cross Transfusion|Intrauterine Cross-Transfusion|Intrauterine Cross-Transfusions|Syndrome, Fetal Transfusion|Syndrome, Fetofetal Transfusion|Syndromes, Fetal Transfusion|Syndromes, Fetofetal Transfusion|Syndromes, Twin-to-Twin Transfusion|Syndromes, Twin Transfusion|Syndrome, Twin-to-Twin Transfusion|Syndrome, Twin Transfusion|Transfusion, Fetofetal|Transfusions, Fetofetal|Transfusions, Twin|Transfusion Syndrome, Fetal|Transfusion Syndrome, Fetofetal|Transfusion Syndromes, Fetal|Transfusion Syndromes, Fetofetal|Transfusion Syndromes, Twin|Transfusion Syndromes, Twin-to-Twin|Transfusion Syndrome, Twin|Transfusion Syndrome, Twin-to-Twin|Transfusion, Twin|Twin to Twin Transfusion Syndrome|Twin-to-Twin Transfusion Syndrome|Twin-to-Twin Transfusion Syndromes|Twin Transfusion|Twin Transfusions|Twin Transfusion Syndrome|Twin Transfusion Syndromes|Twin Twin Transfusion Syndrome
D019969||Amphetamine-Related Disorders|Abuse, Amphetamine|Addiction, Amphetamine|Amphetamine Abuse|Amphetamine Addiction|Amphetamine Dependence|Amphetamine Related Disorders|Dependence, Amphetamine|Disorder, Amphetamine-Related|Disorders, Amphetamine-Related
C567134|220290||Deafness, Autosomal Recessive 1A|Deafness, Digenic, Gjb2-Gjb3|DEAFNESS, DIGENIC, GJB2/GJB3, INCLUDED|Deafness, Digenic, Gjb2-Gjb6|DEAFNESS, DIGENIC, GJB2/GJB6, INCLUDED|DFNB1A
D020945||Lupus Vasculitis, Central Nervous System|Central Nervous System Lupus|Central Nervous System Lupus Vasculitis|Central Nervous System Systemic Lupus Erythematosis|Lupus Meningoencephalitides|Lupus Meningoencephalitis|Meningoencephalitides, Lupus|Meningoencephalitis, Lupus|Neuropsychiatric Systemic Lupus Erythematosus|Systemic Lupus Erythematosis, Central Nervous System
D019966||Substance-Related Disorders|Abuse, Drug|Abuses, Substance|Abuse, Substance|Addiction, Drug|Addiction, Substance|Dependence, Drug|Dependence, Substance|Disorder, Drug Use|Disorder, Substance Use|Drug Abuse|Drug Addiction|Drug Dependence|Drug Habituation|Drug Use Disorder|Drug Use Disorders|Habituation, Drug|Organic Mental Disorders, Substance Induced|Organic Mental Disorders, Substance-Induced|Substance Abuse|Substance Abuses|Substance Addiction|Substance Dependence|Substance Use Disorder|Substance Use Disorders
D019965||Delirium, Dementia, Amnestic, Cognitive Disorders|Clerambault Syndrome|Disorders, Organic Mental|Kandinsky Syndrome|Mental Disorder, Organic|Mental Disorders, Organic|Nonpsychotic Organic Brain Syndrome|Organic Brain Syndrome, Nonpsychotic|Organic Mental Disorder|Organic Mental Disorders|Organic Mental Disorders, Psychotic|Psychoses, Traumatic|Traumatic Psychoses
D019968||Sexual and Gender Disorders
D019967||Schizophrenia and Disorders with Psychotic Features
138110||GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE|G6PDL
D019962||Reactive Attachment Disorder|Attachment Disorder, Reactive|Attachment Disorders, Reactive|Disorder, Reactive Attachment|Disorders, Reactive Attachment|Reactive Attachment Disorders
D018630||Vitreoretinopathy, Proliferative|Inflammatories, Vitreoretinopathy Neovascular|Inflammatory, Vitreoretinopathy Neovascular|Neovascular Inflammatories, Vitreoretinopathy|Neovascular Inflammatory, Vitreoretinopathy|Proliferative Vitreoretinopathies|Proliferative Vitreoretinopathy|Vitreoretinopathies, Proliferative|Vitreoretinopathy Neovascular Inflammatories|Vitreoretinopathy Neovascular Inflammatory
D019964||Mood Disorders|Affective Disorder|Affective Disorders|Disorder, Affective|Disorder, Mood|Disorders, Affective|Disorders, Mood|Mood Disorder
D018633||Pulmonary Atresia|Atresia, Pulmonary|Atresia, Pulmonary Valve|Atresias, Pulmonary|Atresias, Pulmonary Valve|Pulmonary Atresias|Pulmonary Valve Atresia|Pulmonary Valve Atresias|Valve Atresia, Pulmonary|Valve Atresias, Pulmonary
136680|D052159||Frasier Syndrome|Syndrome, Frasier
D006628||Hirsutism
C565537|233420||46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related|46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATED|46,XY SEX REVERSAL 7|46,XY SEX REVERSAL, PARTIAL OR COMPLETE, DHH-RELATED|GDXYM|Gonadal Dysgenesis, XY, Male Limited|GONADAL DYSGENESIS, XY, MALE-LIMITED|SRXY7
203200|C537730||Oculocutaneous albinism type 2|Albinism 2|Albinism II|ALBINISM II ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED|Albinism, oculocutaneous, type 2|Albinism, Oculocutaneous, Type II|Albinoidism|BOCA, INCLUDED|BROWN OCULOCUTANEOUS ALBINISM, INCLUDED|OCA2|Oculocutaneous Albinism, Type II|Oculocutaneous albinism tyrosinase positive|Oculocutaneous Albinism, Tyrosinase-Positive|Tyrosinase-positive oculocutaneous albinism
D007955||Leukemoid Reaction|Leukemoid Reactions|Reaction, Leukemoid|Reactions, Leukemoid
C537415|166700||Buschke-Ollendorff syndrome|BOS|Buschke Ollendorff syndrome|Dermatofibrosis, disseminated, with osteopoikilosis|DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED|Dermatofibrosis lenticularis disseminata with osteopoikilosis|Dermatoosteopoikilosis|Osteopathia condensans disseminata|OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED|OSTEOPOIKILOSIS WITH MELORHEOSTOSIS, INCLUDED
D007953||Leukemia, Radiation-Induced|Leukemia, Radiation Induced|Leukemias, Radiation-Induced|Radiation Induced Leukemia|Radiation-Induced Leukemia|Radiation-Induced Leukemias
C565611|224230||Dyskeratosis Congenita, Autosomal Recessive|DKCB1|DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1
D007951||Leukemia, Myeloid|Chronic Monocytic Leukemia|Chronic Monocytic Leukemias|Granulocytic Leukemia|Granulocytic Leukemias|Leukemia, Chronic Monocytic|Leukemia, Granulocytic|Leukemia, Monocytic, Chronic|Leukemia, Myelocytic|Leukemia, Myelogenous|Leukemias, Chronic Monocytic|Leukemias, Granulocytic|Leukemias, Myelocytic|Leukemias, Myelogenous|Leukemias, Myeloid|Monocytic Leukemia, Chronic|Monocytic Leukemias, Chronic|Myelocytic Leukemia|Myelocytic Leukemias|Myelogenous Leukemia|Myelogenous Leukemias|Myeloid Leukemia|Myeloid Leukemias
D006620||Hip Fractures|Fractures, Hip|Fractures, Intertrochanteric|Fractures, Subtrochanteric|Fractures, Trochanteric|Intertrochanteric Fractures|Subtrochanteric Fractures|Trochanteric Fractures
D007952||Leukemia, Plasma Cell|Leukemia, Plasmacytic|Leukemias, Plasma Cell|Leukemias, Plasmacytic|Plasma Cell Leukemia|Plasma Cell Leukemias|Plasmacytic Leukemia|Plasmacytic Leukemias
D020938||Epilepsy, Partial, Motor|Clonic Seizures, Focal|Epilepsy, Focal Motor|Epilepsy, Hemimotor|Epilepsy, Motor Partial|Focal Clonic Seizure|Focal Clonic Seizures|Focal Motor Epilepsy|Focal Tonic Seizure|Focal Tonic Seizures|Hemimotor Epilepsies|Hemimotor Epilepsy|Hemimotor Seizure Disorder|Hemimotor Seizure Disorders|Motor Epilepsy, Focal|Motor Partial Seizure Disorder|Motor Seizure Disorder|Motor Seizure Disorders|Partial Epilepsy, Motor|Partial Seizure Disorder, Motor|Seizure Disorder, Hemimotor|Seizure Disorder, Motor|Seizure Disorder, Partial, Motor|Seizure Disorders, Hemimotor|Seizure Disorders, Motor|Seizure, Focal Clonic|Seizures, Versive|Seizure, Versive|Tonic Seizure, Focal|Tonic Seizures, Focal|Versive Seizure|Versive Seizures
D020937||Epilepsy, Partial, Sensory|Epilepsy, Sensory|Epilepsy, Sensory Partial|Focal Seizure Disorder, Sensory|Focal Sensory Seizure|Focal Sensory Seizures|Gustatory Partial Seizure|Gustatory Partial Seizures|Olfactory Partial Seizure|Olfactory Partial Seizures|Partial Epilepsy, Sensory|Partial Seizure, Gustatory|Partial Seizure, Olfactory|Partial Seizures, Gustatory|Partial Seizures, Olfactory|Partial Seizures, Vertiginous|Partial Seizures, Visual|Partial Seizure, Vertiginous|Partial Seizure, Visual|Partial Sensory Seizure|Partial Sensory Seizures|Seizure Disorder, Partial, Sensory|Seizure Disorder, Sensory|Seizure Disorder, Sensory, Focal|Seizure Disorders, Sensory|Seizure, Focal Sensory|Seizure, Gustatory Partial|Seizure, Olfactory Partial|Seizure, Partial Sensory|Seizures, Focal Sensory|Seizures, Olfactory Partial|Seizures, Partial Sensory|Seizures, Simple Partial, Special Sensory Symptoms|Seizures, Vertiginous Partial|Seizure, Vertiginous Partial|Seizure, Visual Partial|Sensory Epilepsy|Sensory Focal Seizure Disorder|Sensory Partial Epilepsy|Sensory Partial Seizure Disorder|Sensory Seizure Disorder|Sensory Seizure Disorders|Sensory Seizure, Focal|Sensory Seizure, Partial|Sensory Seizures, Focal|Sensory Seizures, Partial|Simple Partial Seizures, Special Sensory Symptoms|Vertiginous Partial Seizure|Vertiginous Partial Seizures|Visual Partial Seizure|Visual Partial Seizures
C567653|613287||Charcot-Marie-Tooth Disease, Axonal, Type 2n|Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n|CMT2N
D018602||Milk Sickness|Sickness, Milk
609958||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3|ASRT3
D018601||King&apos;s Evil|Evil, King&apos;s|Kings Evil
611102|C567010||Deafness, Sensorineural, And Male Infertility|Chromosome 15q15.3 Deletion Syndrome|Deafness-Infertility Syndrome|Sensorineural Deafness and Male Infertility
C566800||Platelet Aggregation, Spontaneous
D007968||Leukoencephalopathy, Progressive Multifocal|Encephalitis, JC Polyomavirus|Encephalopathies, JC Polyomavirus|Encephalopathy, JC Polyomavirus|JC Polyomavirus Encephalitis|JC Polyomavirus Encephalopathy|Leukoencephalopathies, Progressive Multifocal|Multifocal Leukoencephalopathies, Progressive|Multifocal Leukoencephalopathy, Progressive|Progressive Multifocal Leukoencephalopathies|Progressive Multifocal Leukoencephalopathy
211980|D008175||Lung Neoplasms|ADENOCARCINOMA OF LUNG, INCLUDED|ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO|ALVEOLAR CELL CARCINOMA, INCLUDED|Cancer, Lung|Cancer of Lung|Cancer of the Lung|Cancer, Pulmonary|Cancers, Lung|Cancers, Pulmonary|LNCR1|LNCR2, INCLUDED|LNCR3|LNCR4|LNCR5|Lung Cancer|LUNG CANCER, PROTECTION AGAINST, INCLUDED|Lung Cancers|LUNG CANCER SUSCEPTIBILITY 1|LUNG CANCER SUSCEPTIBILITY 3|LUNG CANCER SUSCEPTIBILITY 4|LUNG CANCER SUSCEPTIBILITY 5|Lung Neoplasm|Neoplasm, Lung|Neoplasm, Pulmonary|Neoplasms, Lung|Neoplasms, Pulmonary|NICOTINE DEPENDENCE, SUSCEPTIBILITY TO LUNG CANCER SUSCEPTIBILITY 2, INCLUDED|NONSMALL CELL LUNG CANCER, INCLUDED|Pulmonary Cancer|Pulmonary Cancers|Pulmonary Neoplasm|Pulmonary Neoplasms|SMOKING AS A QUANTITATIVE TRAIT LOCUS 3|SQTL3
D048550||Hepatic Insufficiency|Insufficiency, Hepatic|Insufficiency, Liver|Liver Insufficiency
D007969||Leukomalacia, Periventricular|Cerebral Leukomalacia, Neonatal|Cerebral Leukomalacias, Neonatal|Cystic Periventricular Leukomalacia|Cystic Periventricular Leukomalacias|Encephalomalacia, Periventricular|Encephalomalacias, Periventricular|Leucomalacia, Periventricular|Leucomalacias, Periventricular|Leukomalacia, Cystic Periventricular|Leukomalacia, Neonatal Cerebral|Leukomalacias, Cystic Periventricular|Leukomalacias, Neonatal Cerebral|Leukomalacias, Periventricular|Neonatal Cerebral Leukomalacia|Neonatal Cerebral Leukomalacias|Periventricular Encephalomalacia|Periventricular Encephalomalacias|Periventricular Leucomalacia|Periventricular Leucomalacias|Periventricular Leukomalacia|Periventricular Leukomalacia, Cystic|Periventricular Leukomalacias|Periventricular Leukomalacias, Cystic
C566806||Phlebectasia Of Lips
D020922||Sleep-Wake Transition Disorders|Cramp, Nocturnal Leg|Cramps, Nocturnal Leg|Jactatio Capitis Nocturna|Leg Cramp, Nocturnal|Leg Cramps, Nocturnal|Movement Disorders, Rhythmic Nocturnal|Nocturna, Jactatio Capitis|Nocturnal Leg Cramp|Nocturnal Leg Cramps|Nocturnal Sleep Head Banging|Rhythmic Movement Disorders, Nocturnal|Sleep Starts|Sleep Talking|Sleep-Wake Transitional Disorder|Sleep Wake Transitional Disorders|Sleep-Wake Transitional Disorders|Sleep-Wake Transition Disorder|Sleep Wake Transition Disorders|Somnolescent Starts|Starts, Sleep|Starts, Somnolescent|Talking, Sleep|Transitional Disorder, Sleep-Wake|Transitional Disorders, Sleep Wake|Transitional Disorders, Sleep-Wake|Transition Disorder, Sleep-Wake|Transition Disorders, Sleep Wake|Transition Disorders, Sleep-Wake
253310|C537194||Lethal congenital contracture syndrome 1|LCCS|LCCS1|Lethal autosomal recessive syndrome of multiple congenital contractures|Multiple contracture syndrome, Finnish type
C566807||Pheochromocytoma Islet Cell Tumor Syndrome
D007967||Leukoedema, Oral|Leukoedemas, Oral|Oral Leukoedema|Oral Leukoedemas
D020921||Sleep Arousal Disorders|Arousal, Confusional|Arousal Disorder, Sleep|Arousal Disorders, Sleep|Arousals, Confusional|Confusional Arousal|Confusional Arousals|Sleep Arousal Disorder
C566808||Phagocytosis, Plasma-Related Defect in
D007964||Leukocytosis|Leukocytoses|Pleocytoses|Pleocytosis
D020920||Dyssomnias|Adjustment Sleep Disorder|Adjustment Sleep Disorders|Dyssomnia|Eating-Drinking Syndrome, Nocturnal|Eating-Drinking Syndromes, Nocturnal|Environmental Sleep Disorder|Environmental Sleep Disorders|Extrinsic Sleep Disorder|Extrinsic Sleep Disorders|Inadequate Sleep Hygiene|Limit Setting Sleep Disorder|Limit-Setting Sleep Disorder|Limit-Setting Sleep Disorders|Nocturnal Eating Drinking Syndrome|Nocturnal Eating-Drinking Syndrome|Nocturnal Eating-Drinking Syndromes|Sleep Disorder, Adjustment|Sleep Disorder, Environmental|Sleep Disorder, Extrinsic|Sleep Disorder, Limit Setting|Sleep Disorder, Limit-Setting|Sleep Disorders, Adjustment|Sleep Disorders, Environmental|Sleep Disorders, Extrinsic|Sleep Disorders, Limit-Setting|Sleep Hygiene, Inadequate|Syndrome, Nocturnal Eating-Drinking|Syndromes, Nocturnal Eating-Drinking
C566809||Normokalemic Periodic Paralysis, Potassium-Sensitive
270420|C562576||Diarrhea 3, Secretory Sodium, Congenital|DIAR3|Sodium Diarrhea, Congenital|SODIUM DIARRHEA, CONGENITAL;CSD DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, INCLUDED
C566803||6-Phosphogluconolactonase Deficiency|6PGL Deficiency
D007960||Leukocyte Disorders|Disorder, Leukocyte|Disorders, Leukocyte|Leukocyte Disorder
159001|C535898||Limb-girdle muscular dystrophy, type 1B|LGMD1B|Muscular Dystrophy, Limb-Girdle, Type 1B|Muscular dystrophy, proximal, type 1B
D007970||Leukopenia|Leukocytopenia|Leukocytopenias|Leukopenias
C537348|600383||Mesomelia-synostoses syndrome|CHROMOSOME 8q13 DELETION SYNDROME|Mesomelia synostoses|MESOMELIC DYSPLASIA, SYNDROMIC|MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE|Verloes-David syndrome
D062846||Non-Filarial Lymphedema|Lymphedema, Non-Filarial|Lymphedemas, Non-Filarial|Non Filarial Lymphedema|Non-Filarial Lymphedemas
C567214|612644||Deafness, Autosomal Dominant 2B|DFNA2B
D020925||Hypoxia-Ischemia, Brain|Anoxia Ischemia, Brain|Anoxia-Ischemia, Brain|Anoxia Ischemia, Cerebral|Anoxia-Ischemia, Cerebral|Anoxia-Ischemias, Brain|Anoxia-Ischemias, Cerebral|Anoxic-Ischemic Encephalopathies|Anoxic Ischemic Encephalopathy|Anoxic-Ischemic Encephalopathy|Brain Anoxia Ischemia|Brain Anoxia-Ischemia|Brain Anoxia-Ischemias|Brain Hypoxia Ischemia|Brain Hypoxia-Ischemia|Brain Hypoxia-Ischemias|Brain Ischemia Anoxia|Brain Ischemia-Anoxia|Brain Ischemia-Anoxias|Brain Ischemia Hypoxia|Brain Ischemia-Hypoxia|Brain Ischemia-Hypoxias|Cerebral Anoxia Ischemia|Cerebral Anoxia-Ischemia|Cerebral Anoxia-Ischemias|Cerebral Hypoxia Ischemia|Cerebral Hypoxia-Ischemia|Cerebral Hypoxia-Ischemias|Cerebral Ischemia Anoxia|Cerebral Ischemia-Anoxia|Cerebral Ischemia-Anoxias|Cerebral Ischemia Hypoxia|Cerebral Ischemia-Hypoxia|Cerebral Ischemia-Hypoxias|Encephalopathies, Anoxic-Ischemic|Encephalopathies, Hypoxic-Ischemic|Encephalopathies, Ischemic-Hypoxic|Encephalopathy, Anoxic Ischemic|Encephalopathy, Anoxic-Ischemic|Encephalopathy, Hypoxic Ischemic|Encephalopathy, Hypoxic-Ischemic|Encephalopathy, Ischemic-Hypoxic|Hypoxia Ischemia, Brain|Hypoxia Ischemia, Cerebral|Hypoxia-Ischemia, Cerebral|Hypoxia-Ischemias, Brain|Hypoxia-Ischemias, Cerebral|Hypoxic-Ischemic Encephalopathies|Hypoxic Ischemic Encephalopathy|Hypoxic-Ischemic Encephalopathy|Ischemia Anoxia, Brain|Ischemia-Anoxia, Brain|Ischemia Anoxia, Cerebral|Ischemia-Anoxia, Cerebral|Ischemia-Anoxias, Brain|Ischemia-Anoxias, Cerebral|Ischemia Hypoxia, Brain|Ischemia-Hypoxia, Brain|Ischemia Hypoxia, Cerebral|Ischemia-Hypoxia, Cerebral|Ischemia-Hypoxias, Brain|Ischemia-Hypoxias, Cerebral|Ischemic-Hypoxic Encephalopathies|Ischemic Hypoxic Encephalopathy|Ischemic-Hypoxic Encephalopathy
D020924||Urological Manifestations|Manifestations, Urological|Manifestation, Urological|Urological Manifestation
D020923||REM Sleep Parasomnias|Erection, Sleep-Related Painful|Erections, Sleep-Related Painful|Painful Erection, Sleep-Related|Painful Erections, Sleep Related|Painful Erections, Sleep-Related|Parasomnia, REM Sleep|Parasomnias, REM Sleep|Rapid Eye Movement Sleep Parasomnias|REM Sleep Parasomnia|REM Sleep Related Sinus Arrest|REM Sleep-Related Sinus Arrest|Sinus Arrest, REM Sleep Related|Sinus Arrest, REM Sleep-Related|Sleep-Related Painful Erection|Sleep Related Painful Erections|Sleep-Related Painful Erections|Sleep, REM, Parasomnias
C537365|308200||Ichthyosis and male hypogonadism|Ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation|RUDS, INCLUDED|RUD SYNDROME, INCLUDED
D018614||Sweating Sickness|English Sweating Sickness|Sickness, Sweating|Sudor Anglicus
C537307|608768||Spinocerebellar ataxia 8|SCA8
D007939||Leukemia L1210|L 1210, Leukemia|L1210, Leukemia|Leukemia L 1210
613194||RETINITIS PIGMENTOSA 50|RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED|RP50
D006606||Hiccup|Hiccough|Hiccoughs|Hiccups
C536560|275630||Triglyceride storage disease with impaired long-chain fatty acid oxidation|CDS|Chanarin-Dorfman disease|Chanarin-Dorfman Syndrome|DCS|Dorfman Chanarin syndrome|Dorfman-Chanarin Syndrome|Ichthyosiform erythroderma with leukocyte vacuolation|Ichthyotic neutral lipid storage disease|Neutral Lipid Storage Disease With Ichthyosis|Neutral lipid storage myopathy|NLSDI|Triglyceride Storage Disease with Ichthyosis|TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION
D007938||Leukemia|Leucocythaemia|Leucocythaemias|Leucocythemia|Leucocythemias|Leukemias
D006607||Adenoma, Sweat Gland|Adenomas, Sweat Gland|Sweat Gland Adenoma|Sweat Gland Adenomas|Syringadenoma|Syringadenomas
C538254|105563||Anal sphincter dysplasia|ASDP
C563790|609129||Auditory Neuropathy, Autosomal Dominant, 1|Auditory Neuropathy, Nonsyndromic Dominant|AUNA1|NSDAN
C535397|601536||Athabaskan brainstem dysgenesis|ABDS|Athabaskan Brainstem Dysgenesis Syndrome|Bosley-Salih-Alorainy Syndrome|BSAS, INCLUDED|Navajo brainstem syndrome|NAVAJO BRAINSTEM SYNDROME BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED
C564616|607136||Spinocerebellar Ataxia 17|HDL4|Huntington Disease-Like 4|SCA17
D020919||Sleep Disorders, Intrinsic|Hypersomnia, Posttraumatic|Hypersomnia, Post Traumatic|Hypersomnia, Post-Traumatic|Hypersomnias, Posttraumatic|Hypersomnias, Post-Traumatic|Intrinsic Sleep Disorder|Intrinsic Sleep Disorders|Posttraumatic Hypersomnia|Post-Traumatic Hypersomnia|Posttraumatic Hypersomnias|Post-Traumatic Hypersomnias|Sleep Disorder, Intrinsic|Sleep State Misperception|Sleep State Misperceptions
D020918||Complex Regional Pain Syndromes|CRPS (Complex Regional Pain Syndromes)|Pain Syndromes, Regional Complex
D005271|608805||Femur Head Necrosis|ANFH|Aseptic Necrosis of Femur Head|Avascular Necrosis Of Femoral Head, Primary|Avascular Necrosis of Femur Head|FEMORAL HEAD, ASEPTIC NECROSIS OF|Femoral Head, Avascular Necrosis Of|Femur Head Necroses|Head Necrosis, Femur|Ischemic Necrosis Of Femoral Head|Necrosis, Aseptic, of Femur Head|Necrosis, Avascular, of Femur Head|Necrosis, Femur Head|OSTEONECROSIS OF FEMORAL HEAD
C564510|300471||Cubitus Valgus with Mental Retardation and Unusual Facies
D020914||Myopathies, Structural, Congenital|Aggregate Myopathies, Tubular|Aggregate Myopathy, Tubular|Autosomal Dominant Myotubular Myopathy|Autosomal Recessive Centronuclear Myopathy|Centronuclear Myopathies|Centronuclear Myopathies, X-Linked|Centronuclear Myopathy|Centronuclear Myopathy, X-Linked|Congenital Fiber Type Disproportion|Congenital Non Progressive Myopathies|Congenital Non-Progressive Myopathies|Congenital Non-Progressive Myopathy|Congenital Structural Myopathies|Congenital Structural Myopathy|Fiber Type Disproportion Myopathy, Congenital|Fiber-Type Disproportion Myopathy, Congenital|Myopathies, Centronuclear|Myopathies, Congenital Non-Progressive|Myopathies, Congenital Structural|Myopathies, Myotubular|Myopathies, Tubular Aggregate|Myopathies, X-Linked Centronuclear|Myopathies, X-Linked Myotubular|Myopathy 1, Myotubular|Myopathy 1s, Myotubular|Myopathy, Centronuclear|Myopathy, Congenital Non-Progressive|Myopathy, Congenital Structural|Myopathy, Congenital, With Fiber-Type Disproportion|Myopathy, Myotubular|Myopathy, Tubular Aggregate|Myopathy, X-Linked Centronuclear|Myopathy, X-Linked Myotubular|Myotubular Myopathies|Myotubular Myopathies, X-Linked|Myotubular Myopathy|Myotubular Myopathy 1|Myotubular Myopathy 1s|Non Progressive Myopathies, Congenital|Non-Progressive Myopathies, Congenital|Non-Progressive Myopathy, Congenital|Structural Myopathies, Congenital|Structural Myopathy, Congenital|Tubular Aggregate Myopathies|Tubular Aggregate Myopathy|X-Linked Centronuclear Myopathies|X Linked Centronuclear Myopathy|X-Linked Centronuclear Myopathy|X-Linked Myotubular Myopathies|X Linked Myotubular Myopathy|X-Linked Myotubular Myopathy|Xlmtm
C567675|613270||Corneal Dystrophy, Fuchs Endothelial, 6|CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FECD6
D006619||Hip Dysplasia, Canine|Canine Hip Dysplasia|Dysplasia, Canine Hip
D012497|268800||Sandhoff Disease|Adult Sandhoff Disease|beta-Hexosaminidase-beta-Subunit Deficiencies|beta Hexosaminidase beta Subunit Deficiency|beta-Hexosaminidase-beta-Subunit Deficiency|Deficiencies, beta-Hexosaminidase-beta-Subunit|Deficiencies, Total Hexosaminidase|Deficiency, beta-Hexosaminidase-beta-Subunit|Deficiency Disease, Hexosaminidase A and B|Deficiency, Total Hexosaminidase|Disease, Sandhoff-Jatzkewitz-Pilz|Gangliosidosis G(M2), Type II|Gangliosidosis GM2, Type II|GM2-Gangliosidoses, Type II|GM2 Gangliosidosis, Type 2|G(M2) Gangliosidosis, Type II|GM2 Gangliosidosis, Type II|GM2-Gangliosidosis, Type II|Hexosaminidase A and B Deficiency Disease|Hexosaminidase Deficiencies, Total|Hexosaminidase Deficiency, Total|Hexosaminidases A And B Deficiency|HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED|Infantile Sandhoff Disease|Juvenile Sandhoff Disease|Sandhoff Disease, Adult|Sandhoff Disease, Infantile|SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED|Sandhoff Disease, Juvenile|SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED|Sandhoff Jatzkewitz Pilz Disease|Sandhoff-Jatzkewitz-Pilz Disease|Sandhoff&apos;s Disease|Sandhoffs Disease|Total Hexosaminidase Deficiencies|Total Hexosaminidase Deficiency|Type II GM2-Gangliosidoses|Type II GM2-Gangliosidosis
610906||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4|ASRT4|ASTHMA AND ALLERGIC RHINITIS, SUSCEPTIBILITY TO
D007948||Leukemia, Monocytic, Acute|Acute Monoblastic Leukemia|Acute Monoblastic Leukemias|Acute Monocytic Leukemia|Acute Monocytic Leukemias|Leukemia, Acute Monocytic|Leukemia, Monoblastic, Acute|Leukemia, Myeloid, Acute, M5|Leukemia, Myeloid, Schilling Type|Leukemia, Myeloid, Schilling-Type|Leukemias, Acute Monoblastic|Leukemias, Acute Monocytic|Leukemia, Schilling-Type Myeloid|Monoblastic Leukemia, Acute|Monoblastic Leukemias, Acute|Monocytic Leukemia, Acute|Monocytic Leukemias, Acute|Myeloid Leukemia, Acute, M5|Myeloid Leukemia, Schilling Type|Myeloid Leukemia, Schilling-Type|Schilling-Type Myeloid Leukemia
D006617||Hip Dislocation|Dislocation, Hip|Dislocations, Hip|Displacement, Hip|Displacements, Hip|Hip Dislocations|Hip Displacement|Hip Displacements|Hip Dysplasia
D006618||Hip Dislocation, Congenital|Congenital Dysplasia Of The Hip|Congenital Hip Dislocation|Congenital Hip Dislocations|Congenital Hip Displacement|Congenital Hip Displacements|Congenital Hip Dysplasia|Congenital Hip Dysplasias|Dislocation, Congenital Hip|Dislocation Of Hip, Congenital|Dislocations, Congenital Hip|Displacement, Congenital Hip|Displacements, Congenital Hip|Dysplasia, Congenital Hip|Dysplasias, Congenital Hip|Hip, Dislocation Of, Congenital|Hip Dislocations, Congenital|Hip Displacement, Congenital|Hip Displacements, Congenital|Hip Dysplasia, Congenital|Hip Dysplasia, Congenital, Nonsyndromic|Hip Dysplasias, Congenital
D007946||Leukemia, Mast-Cell|Leukemia, Mast Cell|Leukemias, Mast-Cell|Mast Cell Leukemia|Mast-Cell Leukemia|Mast-Cell Leukemias
D007947||Leukemia, Megakaryoblastic, Acute|Acute Megakaryoblastic Leukemia|Acute Megakaryoblastic Leukemias|Acute Megakaryocytic Leukemia|Acute Megakaryocytic Leukemias|Leukemia, Acute Megakaryoblastic|Leukemia, Acute Megakaryocytic|Leukemia, Megakaryocytic|Leukemia, Megakaryocytic, Acute|Leukemia, Myeloid, Acute, M7|Leukemias, Acute Megakaryoblastic|Leukemias, Acute Megakaryocytic|Leukemias, Megakaryocytic|Megakaryoblastic Leukemia, Acute|Megakaryoblastic Leukemias, Acute|Megakaryocytic Leukemia|Megakaryocytic Leukemia, Acute|Megakaryocytic Leukemias|Megakaryocytic Leukemias, Acute|Myeloid Leukemia, Acute, M7
D006616||Hip Contracture|Contracture, Hip|Contractures, Hip|Hip Contractures
D007945||Leukemia, Lymphoid|Leukemia, Lymphocytic|Leukemias, Lymphocytic|Leukemias, Lymphoid|Lymphocytic Leukemia|Lymphocytic Leukemias|Lymphoid Leukemia|Lymphoid Leukemias
D007942||Leukemia, Experimental|Animal Leukemia Model|Animal Leukemia Models|Experimental Leukemia|Experimental Leukemias|Leukemia Model, Animal|Leukemia Models, Animal|Leukemias, Experimental
D007943||Leukemia, Hairy Cell|Hairy Cell Leukemia|Hairy Cell Leukemias|Leukemias, Hairy Cell|Leukemic Reticuloendothelioses|Leukemic Reticuloendotheliosis|Reticuloendothelioses, Leukemic|Reticuloendotheliosis, Leukemic
D007940||Leukemia L5178|L5178, Leukemia|L5178, Lymphoma|Lymphoma L5178
D007941||Leukemia P388|P388D(1) Leukemia|P388, Leukemia
D006610||High Pressure Neurological Syndrome|Experimental High Pressure Neurological Syndrome|High Pressure Nervous Syndrome|High Pressure Neural Syndrome|High Pressure Neurological Syndrome, Experimental|HPNS|HPNSs
C566910|611590||Renal Tubular Acidosis, Distal, With Hemolytic Anemia|RTA, Distal, Autosomal Recessive, With Hemolytic Anemia|RTA, DISTAL, AUTOSOMAL RECESSIVE, WITH HEMOLYTIC ANEMIA RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED
D059226||Nociceptive Pain|Nociceptive Pains|Pain, Nociceptive|Pains, Nociceptive|Pain, Somatic|Pains, Somatic|Pains, Tissue|Pain, Tissue|Somatic Pain|Somatic Pains|Tissue Pain|Tissue Pains
D059228||Renal Nutcracker Syndrome|Nutcracker Phenomenon, Renal|Nutcracker Phenomenons, Renal|Nutcracker Syndrome, Renal|Nutcracker Syndromes, Renal|Phenomenon, Renal Nutcracker|Phenomenons, Renal Nutcracker|Renal Nutcracker Phenomenon|Renal Nutcracker Phenomenons|Renal Nutcracker Syndromes|Renal Vein Entrapment Syndrome
153670||BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT|BSSA2
C565299|605746||Anisomastia
C567558|612813||Spondyloepimetaphyseal Dysplasia, Aggrecan Type|SEMD, Aggrecan Type
C536333|174700||Polydactyly, preaxial 4|CP1, INCLUDED|Polydactyly, Preaxial Iv|Polysyndactyly, uncomplicated|POLYSYNDACTYLY, UNCOMPLICATED CROSSED POLYDACTYLY, TYPE I, INCLUDED
D001606|231200||Bernard-Soulier Syndrome|BDPLT1|Bernard Soulier Syndrome|BERNARD-SOULIER SYNDROME, TYPE B, INCLUDED|BERNARD-SOULIER SYNDROME, TYPE C, INCLUDED|BLEEDING DISORDER, PLATELET-TYPE, 1|BSS|Deficiency of Platelet Glycoprotein 1b|Giant Platelet Syndrome|Glycoprotein Ib, Platelet, Deficiency Of|Platelet Glycoprotein 1b, Deficiency of|Platelet Glycoprotein Ib Deficiency|Platelet Syndromes, Giant|Syndrome, Bernard-Soulier|Syndrome, Giant Platelet|Syndromes, Giant Platelet|Von Willebrand Factor Receptor Deficiency|VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY BERNARD-SOULIER SYNDROME, TYPE A1, INCLUDED
C536227|162800||Cyclic neutropenia|Cyclic Hematopoesis|Cyclic hematopoiesis|Cyclic Leucopenia|Neutropenia, cyclic|Periodic Neutropenia
C538346|601214||Naxos disease|Keratosis palmoplantaris with arrhythmogenic cardiomyopathy|Mal de Naxos|Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|Woolly hair, palmoplantar keratoderma, and cardiac abnormalities
D011293||Premenstrual Syndrome|Premenstrual Syndromes|Premenstrual Tension|Premenstrual Tensions|Syndrome, Premenstrual|Syndromes, Premenstrual|Tension, Premenstrual|Tensions, Premenstrual
D011297||Prenatal Exposure Delayed Effects|Delayed Effects, Prenatal Exposure|Late Effects, Prenatal Exposure
D006014|232800||Glycogen Storage Disease Type VII|Deficiencies, Muscle Phosphofructokinase|Deficiencies, Pfkm|Deficiency, Muscle Phosphofructokinase|Deficiency, Pfkm|Disease, Tarui|Disease, Tarui&apos;s|Glycogenosis 7|Glycogen Storage Disease VII|GSD7|GSD VII|Muscle Phosphofructokinase Deficiencies|Muscle Phosphofructokinase Deficiency|Pfkm Deficiencies|Pfkm Deficiency|Phosphofructokinase Deficiencies, Muscle|Phosphofructokinase Deficiency, Muscle|Tarui Disease|Tarui&apos;s Disease|Taruis Disease
D020162|207800||Hyperargininemia|ARG1 Deficiencies|ARG1 Deficiency|Arginase Deficiencies|Arginase Deficiency|Arginase Deficiency Disease|Arginase Deficiency Diseases|Argininemia|Deficiencies, ARG1|Deficiencies, Arginase|Deficiency, ARG1|Deficiency, Arginase|Deficiency Disease, Arginase|Deficiency Diseases, Arginase|HYPERARGININEMIA|Hyperargininemias
215300|D002813||Chondrosarcoma|Chondrosarcomas
D050798||SUNCT Syndrome|SUNCT Syndromes|Syndromes, SUNCT|Syndrome, SUNCT
C536137|174000||Medullary cystic kidney disease 1|ADMCKD1|MCKD|MCKD1|Medullary cystic kidney disease, autosomal dominant|Polycystic kidneys, medullary type
C536861|608220||Spastic paraplegia 25, autosomal recessive|Disc Herniation With Spastic Paraplegia, Autosomal Recessive|SPG25|Spinal disc herniation with autosomal recessive spastic paraplegia
C567343|612347||Jervell And Lange-Nielsen Syndrome 2|Jlns2
607279||SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1|SLEH1|SYSTEMIC LUPUS ERYTHEMATOSUS, HEMOLYTIC ANEMIA-RELATED
607277||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1|AS1|ASRT1
D011271||Pregnancy, Ectopic|Ectopic Pregnancies|Ectopic Pregnancy|Ovarian Pregnancies|Ovarian Pregnancy|Pregnancies, Ectopic|Pregnancies, Ovarian|Pregnancy, Ovarian
D011274||Pregnancy, Tubal|Pregnancies, Tubal|Tubal Pregnancies|Tubal Pregnancy
D011273||Pregnancy, Prolonged|Pregnancies, Prolonged|Prolonged Pregnancies|Prolonged Pregnancy
C535803|271980||succinic semialdehyde dehydrogenase deficiency|4-hydroxybutyric aciduria|4-Hydroxybutyricaciduria|GABA METABOLIC DEFECT|Gamma-Hydroxybutyric Acidemia|Gamma-Hydroxybutyric Aciduria|SSADHD|SSADH Deficiency
C564675|606705||Deafness, Autosomal Dominant 36|DFNA36
163000||CAPILLARY MALFORMATIONS, CONGENITAL|CAPILLARY MALFORMATIONS|CMAL|CMC|NEVI FLAMMEI, FAMILIAL MULTIPLE|PORT-WINE STAIN
602629|C538003||Dystonia 6, torsion|DYT6|Torsion dystonia adult onset mixed type|Torsion Dystonia, Adult-Onset, Mixed Type
D062787||Drug Overdose|Drug Overdoses|Overdose, Drug|Overdoses, Drug
D062788||Adenomyosis|Adenomyoses
C566490|609994||Myopia 11|MYOPIA 11, AUTOSOMAL DOMINANT|MYP11
605275|C548081||Noonan Syndrome 2|Noonan Syndrome, Autosomal Recessive|NS2
C564300|608031||Amyotrophic Lateral Sclerosis 7|ALS7
D011289||Preleukemia|Preleukemias
612780|C557674||SeSAME syndrome|EAST syndrome|Epilepsy, ataxia, sensorineural deafness and tubulopathy|Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy|Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance|SESAMES|SESAME SYNDROME
191900||MUCKLE-WELLS SYNDROME|CAPS2|CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2|MWS|UDA SYNDROME|URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME
C567680|613265||Waardenburg Syndrome, Type 4b|Waardenburg Syndrome, Type 4b, With Hirschsprung Disease|Waardenburg Syndrome, Type Ivb|WS4B
D044904||Mannosidase Deficiency Diseases|Deficiency Disease, Mannosidase|Deficiency Diseases, Mannosidase|Deficiency Syndrome, Mannosidase|Deficiency Syndromes, Mannosidase|Diseases, Mannosidase Deficiency|Mannosidase Deficiency Disease|Mannosidase Deficiency Syndrome|Mannosidase Deficiency Syndromes|Mannosidoses|Mannosidosis
D015160|236750||Hydrops Fetalis|Edema, Fetal|Familial Non Immune Hydrops Fetalis|Familial Non-Immune Hydrops Fetalis|Fetal Edema|Fetal Hydrops|Fetali, Idiopathic Hydrops|Fetalis, Idiopathic Hydrops|Fetalis Nonimmune, Hydrops|Fetalis Nonimmunes, Hydrops|HEMOGLOBIN H HYDROPS FETALIS SYNDROME, INCLUDED|Hydrops, Fetal|Hydrops Fetali, Idiopathic|Hydrops Fetali, Nonimmune|HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED|Hydrops Fetalis, Idiopathic|Hydrops Fetalis, Immune|Hydrops Fetalis Nonimmune|Hydrops Fetalis, Nonimmune|Hydrops Fetalis, Non-Immune|Hydrops Fetalis Nonimmunes|Idiopathic Hydrops Fetali|Idiopathic Hydrops Fetalis|Immune Hydrops Fetalis|NIHF|Nonimmune Hydrops Fetali|Nonimmune Hydrops Fetalis|Nonimmune, Hydrops Fetalis|Non-Immune Hydrops Fetalis|Nonimmunes, Hydrops Fetalis
608584||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2|ASRT2
D044905||beta-Mannosidosis|beta-Mannosidase Deficiencies|beta Mannosidase Deficiency|beta-Mannosidase Deficiency|beta-Mannosidoses|beta Mannosidosis|Deficiency, beta-Mannosidase|Lysosomal beta A Mannosidosis|Mannosidosis, beta A, Lysosomal
D011250||Pregnancy Complications, Hematologic|Complication, Hematological Pregnancy|Complication, Hematologic Pregnancy|Complications, Hematological Pregnancy|Complications, Hematologic Pregnancy|Hematological Pregnancy Complication|Hematological Pregnancy Complications|Hematologic Pregnancy Complication|Hematologic Pregnancy Complications|Pregnancies, Hematologic Complications|Pregnancy Complication, Hematologic|Pregnancy Complication, Hematological|Pregnancy Complications, Hematological|Pregnancy, Hematologic Complications
D011252||Pregnancy Complications, Neoplastic|Complication, Neoplastic Pregnancy|Complications, Neoplastic Pregnancy|Neoplastic Pregnancy Complication|Neoplastic Pregnancy Complications|Pregnancies, Neoplastic Complications|Pregnancy Complication, Neoplastic|Pregnancy, Neoplastic Complications
D011251||Pregnancy Complications, Infectious|Complication, Infectious Pregnancy|Complications, Infectious Pregnancy|Infectious Pregnancy Complication|Infectious Pregnancy Complications|Pregnancies, Infectious Complications|Pregnancy Complication, Infectious|Pregnancy, Infectious Complications
D011254||Pregnancy in Diabetics|Pregnancy in Diabete|Pregnancy in Diabetes|Pregnancy in Diabetic
D012585||Sciatica|Bilateral Sciatica|Bilateral Sciaticas|Neuralgia, Sciatic|Neuralgias, Sciatic|Sciatica, Bilateral|Sciatic Neuralgia|Sciatic Neuralgias
C564621|607131||Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies|MMEDF
C537915|200700||Chondrodysplasia, Grebe type|Achondrogenesis, Brazilian|ACHONDROGENESIS, TYPE II, FORMERLY|Acromesomelic dysplasia, Grebe type|AMDG|Brazilian achondrogenesis|Grebe chondrodysplasia|Grebe dysplasia|Grebe syndrome
610504|C563032||Preterm Premature Rupture of the Membranes|PPROM
611031|C567026||Episodic Kinesigenic Dyskinesia 2|Dystonia 19|DYT19|EKD2
D011269||Pregnancy, Abdominal|Abdominal Pregnancies|Abdominal Pregnancy|Pregnancies, Abdominal
187300|D013683||Telangiectasia, Hereditary Hemorrhagic|Disease, Osler&apos;s|Hemorrhagic Telangiectasia, Hereditary|Hereditary Hemorrhagic Telangiectasia|HHT|HHT1, INCLUDED|ORW DISEASE TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, INCLUDED|Osler Disease|Osler Rendu Disease|Osler-Rendu Disease|Osler Rendu Weber Disease|Osler-Rendu-Weber Disease|Osler&apos;s Disease|Osler Weber Rendu Syndrome|Osler-Weber-Rendu Syndrome|Rendu Osler Weber|Rendu-Osler-Weber|Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber|Telangiectasia, Hereditary Hemorrhagic, Type 1|Weber Osler|Weber-Osler
D012593||Sclerema Neonatorum
D012594||Scleroderma, Localized|Circumscribed Scleroderma|Dermatosclerosis|Frontal Linear Scleroderma en Coup de Sabre|Linear Scleroderma|Localized Scleroderma|Morphea|Morpheas|Scleroderma, Circumscribed|Scleroderma, Linear|Sclerodermas, Localized
D012592||Scleredema Adultorum|Buschke Scleredema|Buschke Scleredema Adultorum|Buschke Scleredema Diabeticorum|Buschke&apos;s Scleredema|Buschkes Scleredema|Diabeticorum, Scleredema|Diabeticorums, Scleredema|Scleredema|Scleredema Adultorum of Buschke|Scleredema, Buschke&apos;s|Scleredema Diabeticorum|Scleredema Diabeticorum of Buschke|Scleredema Diabeticorums|Scleredemas
D012598||Sclerosis|Scleroses
D012595||Scleroderma, Systemic|Sclerosis, Systemic|Systemic Scleroderma|Systemic Sclerosis
C536390|222448||Donnai-Barrow syndrome|DBS/FOAR Syndrome|Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness|Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria|Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis|Diaphragmatic hernia-exomphalos-hypertelorism syndrome|Donnai Barrow syndrome|Faciooculoacousticorenal syndrome|Facio-Oculo-Acoustico-Renal syndrome|Foar Syndrome
609040|C563808||Arrhythmogenic Right Ventricular Dysplasia, Familial, 9|Arrhythmogenic Right Ventricular Cardiomyopathy 9|ARVC9|ARVD9
C566447|610092||Microphthalmia, Isolated, with Coloboma 3|MCOPCB3|Microphthalmia, Colobomatous, Isolated 3|MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED
C566980|136630||Mental Retardation, Fra12a Type
C565510|236270||Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type|HMAE|HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE|HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE|Methylcobalamin Deficiency, CblE Type|Vitamin B12-Responsive Homocystinuria, CblE Type
D013899||Thoracic Neoplasms|Neoplasms, Thoracic|Neoplasm, Thoracic|Thoracic Neoplasm
D011236||Prediabetic State|Prediabetes|Prediabetic States|State, Prediabetic|States, Prediabetic
D012569||Schizotypal Personality Disorder|Borderline Schizophrenia|Borderline Schizophrenias|Disorder, Schizotypal Personality|Disorders, Schizotypal Personality|Incipient Schizophrenia|Incipient Schizophrenias|Latent Schizophrenia|Latent Schizophrenias|Personality Disorder, Schizotypal|Personality Disorders, Schizotypal|Pseudoneurotic Schizophrenia|Pseudoneurotic Schizophrenias|Pseudopsychopathic Schizophrenia|Pseudopsychopathic Schizophrenias|Schizophrenia, Borderline|Schizophrenia, Incipient|Schizophrenia, Latent|Schizophrenia, Pseudoneurotic|Schizophrenia, Pseudopsychopathic|Schizophrenias, Borderline|Schizophrenias, Incipient|Schizophrenias, Latent|Schizophrenias, Pseudoneurotic|Schizophrenias, Pseudopsychopathic|Schizotypal Personality Disorders
D013898||Thoracic Injuries|Chest Injuries|Chest Injury|Injuries, Chest|Injuries, Thoracic|Injury, Chest|Injury, Thoracic|Thoracic Injury
192600|C566005||Cardiomyopathy, Familial Hypertrophic, 1|ASH|ASYMMETRIC SEPTAL HYPERTROPHY|CMH|CMH1|HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC|VENTRICULAR HYPERTROPHY, HEREDITARY
C566591|133200||Erythrokeratodermia, Progressive Symmetric|EKV|EKVP|ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES|ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC|ERYTHROKERATODERMIA VARIABILIS|ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA|ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE, INCLUDED|KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED|PSEK
D007966|250100||Leukodystrophy, Metachromatic|Adult Metachromatic Leukodystrophies|Adult Metachromatic Leukodystrophy|Adult-Type Metachromatic Leukodystrophies|Adult-Type Metachromatic Leukodystrophy|ARSA Deficiencies|ARSA Deficiency|Arylsulfatase A Deficiencies|Arylsulfatase A Deficiency|Arylsulfatase A Deficiency Disease|Cerebral sclerosis, Diffuse, Metachromatic Form|Cerebroside Sulfatase Deficiencies|Cerebroside Sulfatase Deficiency|CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED|Cerebroside Sulphatase Deficiency Disease|Deficiencies, ARSA|Deficiencies, Arylsulfatase A|Deficiencies, Cerebroside Sulfatase|Deficiency, ARSA|Deficiency, Arylsulfatase A|Deficiency, Cerebroside Sulfatase|Greenfield Disease|Greenfield&apos;s Disease|Infant Metachromatic Leukodystrophies|Infant Metachromatic Leukodystrophy|Infant-Type Metachromatic Leukodystrophies|Infant-Type Metachromatic Leukodystrophy|Juvenile Metachromatic Leukodystrophies|Juvenile Metachromatic Leukodystrophy|Juvenile-Type Metachromatic Leukodystrophies|Juvenile-Type Metachromatic Leukodystrophy|Leukodystrophies, Adult Metachromatic|Leukodystrophies, Adult-Type Metachromatic|Leukodystrophies, Juvenile Metachromatic|Leukodystrophies, Juvenile-Type Metachromatic|Leukodystrophies, Metachromatic|Leukodystrophy, Adult Metachromatic|Leukodystrophy, Adult-Type Metachromatic|Leukodystrophy, Juvenile Metachromatic|Leukodystrophy, Juvenile-Type Metachromatic|Leukodystrophy, Metachromatic, Adult|Leukodystrophy, Metachromatic, Juvenile|Leukoencephalopathies, Metachromatic|Leukoencephalopathy, Metachromatic|Lipidosis, Sulfatide|Metachromatic Leukodystrophies|Metachromatic Leukodystrophies, Adult|Metachromatic Leukodystrophies, Adult-Type|Metachromatic Leukodystrophies, Infant|Metachromatic Leukodystrophies, Infant-Type|Metachromatic Leukodystrophies, Juvenile|Metachromatic Leukodystrophies, Juvenile-Type|Metachromatic Leukodystrophy|Metachromatic Leukodystrophy, Adult|METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED|Metachromatic Leukodystrophy, Adult Type|Metachromatic Leukodystrophy, Adult-Type|Metachromatic Leukodystrophy, Infant|Metachromatic Leukodystrophy, Infant Type|Metachromatic Leukodystrophy, Infant-Type|Metachromatic Leukodystrophy, Juvenile|METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED|Metachromatic Leukodystrophy, Juvenile Type|Metachromatic Leukodystrophy, Juvenile-Type|Metachromatic Leukodystrophy, Late Infantile|METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED|Metachromatic Leukoencephalopathies|Metachromatic Leukoencephalopathy|MLD|Sulfatase Deficiencies, Cerebroside|Sulfatase Deficiency, Cerebroside|Sulfatide Lipidosis
D012561||Schizophrenia, Childhood|Childhood Onset Schizophrenia|Childhood-Onset Schizophrenia|Childhood Schizophrenia|Schizophrenia, Childhood-Onset
D011230||Precancerous Conditions|Condition, Precancerous|Condition, Preneoplastic|Conditions, Precancerous|Conditions, Preneoplastic|Precancerous Condition|Preneoplastic Condition|Preneoplastic Conditions
D013896||Thoracic Diseases|Diseases, Thoracic|Disease, Thoracic|Thoracic Disease
D012562||Schizophrenia, Disorganized|Disorganized Schizophrenia|Disorganized Schizophrenias|Hebephrenic Schizophrenia|Hebephrenic Schizophrenias|Schizophrenia, Hebephrenic|Schizophrenias, Disorganized|Schizophrenias, Hebephrenic
D012563||Schizophrenia, Paranoid|Delusional Disorder|Delusional Disorders|Disorder, Delusional|Disorders, Delusional|Paranoid Schizophrenia|Paranoid Schizophrenias|Schizophrenias, Paranoid
C567050|610898||Supranuclear Palsy, Progressive, 3|PSNP3
C563897|608622||Hypertension, Diastolic, Resistance to
C563740|609311||Charcot-Marie-Tooth Disease, Type 4H|Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H|Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H|Charcot-Marie-Tooth Neuropathy, Type 4H|CMT4H
C567564|612781||Isolated Growth Hormone Deficiency, Type IB|Dwarfism Of Sindh|IGHD1B|IGHD IB
C567419|612098||Cardiomyopathy, Familial Hypertrophic, 11|CMH11
D000592||Amino Acid Metabolism, Inborn Errors|Amino Acid Metabolism Disorders, Inborn|Amino Acid Metabolism, Inborn Error|Amino Acid Metabolism, Inherited Disorders|Amino Acidopathies, Congenital|Amino Acidopathies, Inborn|Amino Acidopathy, Congenital|Amino Acidopathy, Inborn|Congenital Amino Acidopathies|Congenital Amino Acidopathy|Inborn Amino Acidopathies|Inborn Amino Acidopathy|Inborn Errors, Amino Acid Metabolism|Inherited Errors of Amino Acid Metabolism
C563906|608569||Cardiomyopathy, Dilated, 1o|Cardiomyopathy, Dilated, with Ventricular Tachycardia|CMD1O
D043604||Glomus Tympanicum Tumor|Glomus Tympanicum Tumors|Tumor, Glomus Tympanicum|Tumors, Glomus Tympanicum
D011249||Pregnancy Complications, Cardiovascular|Cardiovascular Pregnancy Complication|Cardiovascular Pregnancy Complications|Complication, Cardiovascular Pregnancy|Complications, Cardiovascular Pregnancy|Pregnancies, Cardiovascular Complications|Pregnancy, Cardiovascular Complications|Pregnancy Complication, Cardiovascular
C565195|610706||Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia|Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia|DEAFNESS WITH LAMM
D011248||Pregnancy Complications|Complication, Pregnancy|Complications, Pregnancy|Pregnancy Complication
D011561|177850||Pseudoxanthoma Elasticum|Elasticum, Incomplete Pseudoxanthoma|Elasticums, Incomplete Pseudoxanthoma|Groenblad-Strandberg Syndrome|Gronblad Strandberg Syndrome|Gronblad-Strandberg Syndrome|GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED|Incomplete Pseudoxanthoma Elasticum|Incomplete Pseudoxanthoma Elasticums|Pseudoxanthoma Elasticum, Autosomal Dominant|Pseudoxanthoma Elasticum, Forme Fruste|PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED|Pseudoxanthoma Elasticum, Incomplete|Pseudoxanthoma Elasticums, Incomplete|PXE|PXE, MODIFIER OF SEVERITY OF, INCLUDED|Syndrome, Gronblad-Strandberg
D056912||Binge-Eating Disorder|Binge Eating Disorder|Binge-Eating Disorders|Disorder, Binge-Eating|Disorders, Binge-Eating
C563758|609259||Myopia 10|MYP10
D019280|113620||Branchio-Oto-Renal Syndrome|BOFS|BOF Syndrome|BOR1|BOR2|BOR Syndrome|Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging|Branchiooculofacial Syndrome|Branchio Oculo Facial Syndrome|Branchio-Oculo-Facial Syndrome|Branchiootorenal Dysplasia|Branchio-Otorenal Dysplasia|Branchio-Otorenal Syndrome|Branchio Oto Renal Syndrome|Branchiootorenal Syndrome 1|Branchiootorenal Syndrome 2|Dysplasia, Branchiootorenal|Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome|Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome|Lee Root Fenske Syndrome|Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome|Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome|Melnick Fraser Syndrome|Melnick-Fraser Syndrome|Syndrome, BOF|Syndrome, BOR|Syndrome, Branchiooculofacial|Syndrome, Branchio-Oculo-Facial|Syndrome, Branchio-Oto-Renal|Syndrome, Melnick-Fraser
214150|C562434||Cerebrooculofacioskeletal Syndrome 1|COFS|COFS1|Cofs Syndrome|Pena-Shokeir Syndrome, Type II
160800||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT|THOMSEN DISEASE;THD MYOTONIA LEVIOR, INCLUDED
303900||COLORBLINDNESS, PARTIAL, PROTAN SERIES|CBP|PROTANOPIA|RED COLORBLINDNESS PROTANOMALY, INCLUDED
D000568||Amenorrhea|Amenorrhea, Postpartum|Postpartum Amenorrhea|Postpartum Amenorrheas
D001899||Borrelia Infections|Borrelia Infection|Infection, Borrelia|Infections, Borrelia
D000567||Amelogenesis Imperfecta|Congenital Enamel Hypoplasia
C536128|216900||Achromatopsia 2|ACHM2|Colorblindness, Total|RMCH2|Rod monochromacy 2|Rod monochromatism 2|Total color blindness
C535771||Dandy Walker malformation postaxial polydactyly|Dandy-Walker malformation with postaxial polydactyly|Dwm With Postaxial Polydactyly
C564528|300355||Mental Retardation, X-Linked 73|MRX73
C535770||Daish Hardman Lamont syndrome|Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis
C535772||Dandy Walker variant
C572568|610984||Complement Factor I Deficiency|C3 Inactivator Deficiency|CFID|Complement Component 3 Inactivator Deficiency
D001890||Borna Disease
C536131|603194||Meckel syndrome type 2|Meckel-Gruber Syndrome, Type 2|Meckel Syndrome, Type 2|MKS2
D000564||Ameloblastoma|Ameloblastomas
D025861||Blood Coagulation Disorders, Inherited|Coagulation Disorder, Hereditary|Coagulation Disorder, Inherited|Coagulation Disorders, Hereditary|Coagulation Disorders, Inherited|Hereditary Blood Coagulation Disorders|Hereditary Coagulation Disorder|Hereditary Coagulation Disorders|Inherited Blood Coagulation Disorders|Inherited Coagulation Disorder|Inherited Coagulation Disorders
D000562||Amebiasis|Abscess, Amebic|Abscesses, Amebic|Amebiases|Amebic Abscess|Amebic Abscesses|Ameboma|Amebomas|Amoebiases|Amoebiasis|Iodamoebiases|Iodamoebiasis
D011213||Poxviridae Infections|Infection, Poxviridae|Infection, Poxvirus|Infections, Poxviridae|Infections, Poxvirus|Milker Nodes|Milker&apos;s Node|Milker&apos;s Nodes|Milkers Nodes|Node, Milker&apos;s|Nodes, Milker&apos;s|Poxviridae Infection|Poxvirus Infection|Poxvirus Infections
607174|C537443||Meningioma, familial|Familial meningioma|MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
C537182|603829||Paroxysmal ventricular fibrillation|Idiopathic ventricular fibrillation|Paroxysmal familial ventricular fibrillation|VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO|Ventricular fibrillation, paroxysmal familial|VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1|VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2|VF1|VF2
C535763||Euhidrotic ectodermal dysplasia|Kopysc Barczyk Krol syndrome|Pilodental dysplasia with refractive errors|Trichodental dysplasia with hyperopia
600510|C563184||Glaucoma-Related Pigment Dispersion Syndrome|Glaucoma, Pigment-Dispersion Type|GPDS1|PDS|Pigment-Dispersion Syndrome|PIGMENT DISPERSION SYNDROME
C535766||Czech dysplasia, metatarsal type|Czech Dysplasia|Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes|Pseudorheumatoid dysplasia, progressive, with hypoplastic toes|Spondyloarthropathy with Short Third and Fourth Toes
C535396|108720||Atelosteogenesis, type 1|AO1|AOI|Atelosteogenesis Type 1|Atelosteogenesis Type I|Atelosteogenesis, Type I|Giant cell chondrodysplasia|Spondylohumerofemoral hypoplasia
C538157|186580||Synovitis granulomatous with uveitis and cranial neuropathies|ACUG|Arthrocutaneouveal granulomatosis|Blau syndrome|Early-Onset Sarcoidosis|Familial Granulomatosis, Blau Type|Familial Juvenile Systemic Granulomatosis|Granulomatosis, familial, Blau type|GRANULOMATOSIS, FAMILIAL, BLAU TYPE SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES, INCLUDED|Granulomatosis, familial juvenile systemic|Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|Jabs syndrome|Pediatric Granulomatous Arthritis|Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies
C535768||Daentl Towsend Siegel syndrome|Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome|Hydrocephalus blue sclera nephropathy
C535767||D-glycericacidemia|D-Glycerate kinase deficiency|D-Glyceric Acidemia|Glycerate Kinase Deficiency|Non ketotic hyperglycinemia syndrome
D012541||Scarlet Fever|Fever, Scarlet|Fevers, Scarlet|Scarlet Fevers
C535769||Dahlberg Borer Newcomer syndrome|Hypoparathyroidism Lymphedema syndrome|Hypoparathyroidism-Lymphedema Syndrome|Lymphedema hypoparathyroidism syndrome|Lymphedema-Hypoparathyroidism Syndrome
C567400|612201||Atrial Fibrillation, Familial, 6|ATFB6
C535782||Spondyloenchondrodysplasia|Spondyloenchondromatosis|Spondylometaphyseal dysplasia with enchondromatous changes
C535781||Spondylocostal dysostosis, autosomal recessive|Autosomal recessive spondylocostal dysostosis|Spondylocostal Dysostosis 2, Autosomal Recessive|Spondylocostal Dysostosis 3, Autosomal Recessive
C535784||Spondyloepimetaphyseal dysplasia with multiple dislocations|Spondyloepimetaphyseal dysplasia with multiple dislocations, hall type|Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type
C535783||Spondyloepimetaphyseal dysplasia with hypotrichosis|Whyte Petersen McAlister syndrome|Whyte syndrome
D012557||Schizoid Personality Disorder|Disorder, Schizoid Personality|Disorders, Schizoid Personality|Personalities, Schizoid|Personality Disorder, Schizoid|Personality Disorders, Schizoid|Personality, Schizoid|Schizoid Personalities|Schizoid Personality|Schizoid Personality Disorders
C565634|221820||Gliosis, Familial Progressive Subcortical|Dementia, Familial, Neumann Type|GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL|GPSC|HDLS|LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS|Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant|Subcortical Gliosis of Neumann
C041229||BOT heavy chain disease protein, human
D011227||Pre-Excitation, Mahaim-Type|Mahaim Type Preexcitation|Mahaim-Type Preexcitation|Mahaim Type Pre Excitation|Mahaim-Type Pre-Excitation|Mahaim Type Pre Excitation, Nodofascicular|Mahaim-Type Pre-Excitation, Nodofascicular|Mahaim Type Pre Excitation, Nodoventricular|Mahaim-Type Pre-Excitation, Nodoventricular|Nodofascicular Mahaim Type Pre Excitation|Nodofascicular Mahaim-Type Pre-Excitation|Nodoventricular Mahaim Type Pre Excitation|Nodoventricular Mahaim-Type Pre-Excitation|Preexcitation, Mahaim-Type|Pre Excitation, Mahaim Type|Pre-Excitation, Nodofascicular Mahaim-Type|Pre-Excitation, Nodoventricular Mahaim-Type
C563679|610353||Epilepsy, Nocturnal Frontal Lobe, Type 4|ENFL4|Epilepsy, Familial, with Nocturnal Wandering and Ictal Fear|EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
D011226||Pre-Excitation Syndromes|Preexcitation Syndrome|Pre-Excitation Syndrome|Preexcitation Syndromes|Pre Excitation Syndromes
C563929|608443||Mental Retardation, Autosomal Recessive 3|MRT3
C535775||Pierre Robin sequence with pectus excavatum and rib and scapular anomalies|Campomelic dysplasia, mild
C535774||Piepkorn Karp Hickok syndrome
C535777||Split hand foot deformity
D012553||Schistosomiasis haematobia|Schistosomiases, Urinary|Schistosomiases, Urogenital|Schistosomiasis haematobium|Schistosomiasis, Urinary|Schistosomiasis, Urogenital|Urinary Schistosomiases|Urinary Schistosomiasis|Urogenital Schistosomiases|Urogenital Schistosomiasis
C535779||Spondylocamptodactyly|Camptodactyly with cervical platyspondyly|Spondylo camptodactyly syndrome
D012554||Schistosomiasis japonica|Schistosomiasis japonicum
D012552||Schistosomiasis|Bilharziases|Bilharziasis|Fever, Katayama|Katayama Fever|Schistosomiases
133239|D004938||Esophageal Neoplasms|AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO, INCLUDED|Cancer, Esophageal|Cancer, Esophagus|Cancer of Esophagus|Cancer of the Esophagus|Cancers, Esophageal|Cancers, Esophagus|ESCC, SUSCEPTIBILITY TO, INCLUDED|Esophageal Cancer|Esophageal Cancers|Esophageal Neoplasm|ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SUSCEPTIBILITY TO, INCLUDED|Esophagus Cancer|Esophagus Cancers|Esophagus Neoplasm|Esophagus Neoplasms|GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO, INCLUDED|Neoplasm, Esophageal|Neoplasm, Esophagus|Neoplasms, Esophageal|Neoplasms, Esophagus
C535791||Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism|SMD With Bowed Forearms And Facial Dysmorphism
C535790||Spondylohypoplasia, arthrogryposis and popliteal pterygium
C535793||Spondylometaphyseal dysplasia, &apos;corner fracture&apos; type|Spondylometaphyseal Dysplasia, Corner Fracture Type|Spondylometaphyseal Dysplasia, Sutcliffe Type
C566541|602477||Febrile Convulsions, Familial, 2|Convulsions, Familial Febrile, 2|FEB2|FEBRILE SEIZURES, FAMILIAL, 2|Seizures, Familial Febrile, 2
D003410|123450||Cri-du-Chat Syndrome|5p Deletion Syndrome|5p Deletion Syndromes|5p Minus Syndrome|5p Minus Syndromes|5p Syndrome|5p- Syndrome|5p- Syndrome, Chromosome|5p- Syndromes|5p- Syndromes, Chromosome|Cat Cry Syndrome|Cat Cry Syndromes|Chromosome 5p Deletion Syndrome|Chromosome 5p- Syndrome|Chromosome 5p- Syndromes|Chromosome 5 Short Arm Deletion Syndrome|Cri du Chat Syndrome|Cri-du-Chat Syndromes|Crying Cat Syndrome|Crying Cat Syndromes|Deletion of Short Arm of Chromosome 5 Syndrome|Deletion Syndrome, 5p|Deletion Syndromes, 5p|Minus Syndrome, 5p|Minus Syndromes, 5p|Syndrome, 5p-|Syndrome, 5p Deletion|Syndrome, 5p Minus|Syndrome, Cat Cry|Syndrome, Chromosome 5p-|Syndrome, Cri-du-Chat|Syndrome, Crying Cat|Syndromes, 5p-|Syndromes, 5p Deletion|Syndromes, 5p Minus|Syndromes, Cat Cry|Syndromes, Chromosome 5p-|Syndromes, Cri-du-Chat|Syndromes, Crying Cat
C535792||Spondylometaphyseal dysplasia with dentinogenesis imperfecta|Odontochondrodysplasia
C535795||Spondylometaphyseal dysplasia, axial|Axial SMD|SMD, Axial
C535794||Spondylometaphyseal dysplasia, Algerian type|Spondylometaphyseal Dysplasia, Schmidt Type|Spondylometaphyseal Dysplasia With Severe Genu Valgum
D006211|234200||Pantothenate Kinase-Associated Neurodegeneration|Degeneration, Pigmentary Pallidal|Dystrophies, Juvenile-Onset Neuroaxonal|Dystrophy, Juvenile-Onset Neuroaxonal|Hallervorden Spatz Disease|Hallervorden-Spatz Disease|Hallervorden Spatz Syndrome|Hallervorden-Spatz Syndrome|Juvenile-Onset Neuroaxonal Dystrophies|Juvenile-Onset Neuroaxonal Dystrophy|NBIA1|Neuroaxonal Dystrophies, Juvenile-Onset|Neuroaxonal Dystrophy, Juvenile Onset|Neuroaxonal Dystrophy, Juvenile-Onset|Neurodegeneration, Pantothenate Kinase-Associated|Neurodegeneration With Brain Iron Accumulation 1|Neurodegeneration with Brain Iron Accumulation Type 1|Pallidal Atrophy, Pigmentary|Pantothenate Kinase Associated Neurodegeneration|PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION|Pigmentary Pallidal Atrophy|Pigmentary Pallidal Degeneration|PKAN|PKAN Neuroaxonal Dystrophy, Juvenile Onset|PKAN Neuroaxonal Dystrophy, Juvenile-Onset
D000542||Alveolitis, Extrinsic Allergic|Allergic Alveolitides, Extrinsic|Allergic Alveolitis, Extrinsic|Alveolitides, Extrinsic Allergic|Extrinsic Allergic Alveolitides|Extrinsic Allergic Alveolitis|Hypersensitivity Pneumonitides|Hypersensitivity Pneumonitis|Pneumonitides, Hypersensitivity|Pneumonitis, Hypersensitivity
167800|C537262||Hereditary pancreatitis|Autosomal Dominant Hereditary Pancreatitis|Familial Pancreatitis|Hereditary Chronic Pancreatitis|HP|HPC|PANCREATITIS, CALCIFIC, INCLUDED|PANCREATITIS, CHRONIC PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED|PANCREATITIS, CHRONIC, PROTECTION AGAINST, INCLUDED|Pancreatitis, Hereditary|PCTT
D012523||Sarcocystosis|Sarcocystoses|Sarcosporidioses|Sarcosporidiosis
D055613||Multiple Pulmonary Nodules|Multiple Pulmonary Nodule|Pulmonary Nodule, Multiple|Pulmonary Nodules, Multiple
C535786||Spondyloepimetaphyseal dysplasia, sponastrime type|Sponastrime dysplasia|Spondylar and nasal alterations with striated metaphyses
C535785||Spondyloepimetaphyseal dysplasia, Genevieve type|SEMD, Genevieve Type
C535787||Spondyloepiphyseal dysplasia tarda, Toledo type|Brachyolmia, Toledo type|Brachyolmia Type 1, Toledo Type|Paps-Chondroitin Sulfate Sulfotransferase Deficiency|SED, Chondroitin Sulfate Type|Spondyloepiphyseal dysplasia, chondroitin sulfate type|Toledo type brachyolmia
D013851||Thinness|Leanness|Underweight
C535789||Spondyloepiphyseal dysplasia, Omani type|Chondrodysplasia with Multiple Dislocations|CHST3-Related Skeletal Dysplasia|Humerospinal dysostosis|Humero-Spinal Dysostosis|Humero-spinal dysostosis with congenital heart disease|Kozlowski Celermajer Tink syndrome|Omani type of spondyloepiphyseal dysplasia|SED, Omani Type|SED with Luxations, CHST3 Type|Spondyloepiphyseal Dysplasia, CHST3-Related|Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
D008059|607014||Mucopolysaccharidosis I|alpha-L-Iduronidase Deficiencies|alpha L Iduronidase Deficiency|alpha-L-Iduronidase Deficiency|Deficiencies, alpha-L-Iduronidase|Deficiency, alpha-L-Iduronidase|Disease, Hurler|Disease, Hurler&apos;s|Gargoylism|Gargoylism, Hurler Syndrome|Gargoylisms|Hurler Disease|Hurler Scheie Syndrome|Hurler-Scheie Syndrome|Hurler&apos;s Disease|Hurlers Disease|Hurler&apos;s Syndrome|Hurlers Syndrome|Hurler Syndrome|Hurler Syndrome Gargoylism|Lipochondrodystrophies|Lipochondrodystrophy|MPS1-H|MPS1-HS|MPS1-S|MPS5, FORMERLY|MPS V, FORMERLY|Mucopolysaccharidosis 1|Mucopolysaccharidosis 5|Mucopolysaccharidosis IS|Mucopolysaccharidosis I S|Mucopolysaccharidosis I-S|Mucopolysaccharidosis Type I|Mucopolysaccharidosis Type Ih|Mucopolysaccharidosis Type Ihs|Mucopolysaccharidosis Type Ih/S|Mucopolysaccharidosis Type Ih/Ss|Mucopolysaccharidosis Type Is|MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY|Mucopolysaccharidosis V|Pfaundler Hurler Syndrome|Pfaundler-Hurler Syndrome|Scheie&apos;s Syndrome|Scheie Syndrome|Syndrome, Hurler|Syndrome, Hurler&apos;s|Syndrome, Hurler-Scheie|Syndrome, Pfaundler-Hurler|Syndrome, Scheie|Syndrome, Scheie&apos;s|Type Ih, Mucopolysaccharidosis|Type Ihs, Mucopolysaccharidosis|Type Ih/S, Mucopolysaccharidosis|Type Ih/Ss, Mucopolysaccharidosis
D001885||Bordetella Infections|Bordetella Infection|Infection, Bordetella|Infections, Bordetella
C538353|608390||Potassium aggravated myotonia|Myotonia congenita, acetazolamide-responsive|Myotonia congenita, atypical|MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC, INCLUDED|MYOTONIA FLUCTUANS|Myotonia permanens|Myotonia, Potassium-Aggravated|Potassium-Aggravated Myotonia|SNEL, INCLUDED|SODIUM CHANNEL MUSCLE DISEASE|Sodium Channel Myotonia
D001883||Borderline Personality Disorder|Borderline Personality Disorders|Disorder, Borderline Personality|Disorders, Borderline Personality|Personality Disorder, Borderline|Personality Disorders, Borderline
D001882||Border Disease|Border Diseases
D000550||Amblyopia|Amblyopia, Anisometropic|Amblyopia, Developmental|Amblyopias|Amblyopias, Anisometropic|Amblyopias, Developmental|Amblyopias, Stimulus Deprivation-Induced|Amblyopias, Suppression|Amblyopia, Stimulus Deprivation Induced|Amblyopia, Stimulus Deprivation-Induced|Amblyopia, Suppression|Anisometropic Amblyopia|Anisometropic Amblyopias|Deprivation-Induced Amblyopias, Stimulus|Deprivation-Induced Amblyopia, Stimulus|Developmental Amblyopia|Developmental Amblyopias|Eye, Lazy|Eyes, Lazy|Lazy Eye|Lazy Eyes|Stimulus Deprivation Induced Amblyopia|Stimulus Deprivation-Induced Amblyopia|Stimulus Deprivation-Induced Amblyopias|Suppression Amblyopia|Suppression Amblyopias
C567733|613122||Cardiomyopathy, Dilated, 1CC|CMD1CC
D012536||Scalp Dermatoses|Dermatoses, Scalp|Dermatosis, Scalp|Scalp Dermatosis
C565276|605909||Parkinson Disease 6, Autosomal Recessive Early-Onset|PARK6|Parkinson Disease 6, Early-Onset|PARKINSON DISEASE 6, EARLY-ONSET;PARK6 PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED|Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1|PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1, INCLUDED
146520||HYPOTRICHOSIS 2|HTSS|HTSS1|HYPOTRICHOSIS SIMPLEX OF THE SCALP 1|HYPOTRICHOSIS, SPANISH TYPE|HYPT2
241800|C537158||Hypothalamic hamartomas|CHHS, INCLUDED|Congenital hypothalamic hamartoma syndrome|CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED|Hamartoma of the hypothalamus
C535796||Spondylometaphyseal dysplasia, east-African type|Spondylometaphyseal Dysplasia, East African Type
C535799||Spondyloperipheral dysplasia short ulna|Familial spondyloepiphyseal dysplasia|Spondyloperipheral dysplasia|Spondyloperipheral Dysplasia With Short Ulna
C535798||Spondylometaphyseal dysplasia, Sedaghatian type|Lethal Metaphyseal Dysplasia|Metaphyseal Chondrodysplasia, Congenital Lethal|Sedaghatian Chondrodysplasia
194190|D054877||Wolf-Hirschhorn Syndrome|4p Deletion Syndrome|4p- Syndrome|4p Syndrome, Chromosome|4p Syndromes, Chromosome|CHROMOSOME 4p16.3 DELETION SYNDROME|Chromosome 4p Deletion Syndrome|Chromosome 4p Monosomy|Chromosome 4p Syndrome|Chromosome 4p Syndromes|Del(4p) Syndrome|Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation|Partial Monosomy 4p|Pitt Rogers Danks Syndrome|Pitt-Rogers-Danks Syndrome|Pitt Syndrome|Pitt Syndromes|PRDS|Syndrome, Chromosome 4p|Syndrome, Pitt|Syndrome, Pitt-Rogers-Danks|Syndromes, Chromosome 4p|Syndromes, Pitt|Syndrome, Wolf|Syndrome, Wolf-Hirchhorn|Syndrome, Wolf-Hirschhorn|WHS|Wolf Hirchhorn Syndrome|Wolf-Hirchhorn Syndrome|Wolf Hirschhorn Syndrome|Wolf Syndrome
D012532||Scabies|Mange, Sarcoptic|Sarcoptic Mange
D055622||Orbital Myositis|Myositides, Orbital|Myositis, Orbital|Orbital Myositides
D011201||Poultry Diseases|Disease, Poultry|Diseases, Poultry|Poultry Disease
D055623||Keratosis, Actinic|Actinic Keratoses|Actinic Keratosis|Keratoses, Actinic
D001855||Bone Marrow Diseases|Bone Marrow Disease|Disease, Bone Marrow|Diseases, Bone Marrow|Marrow Disease, Bone|Marrow Diseases, Bone
C564298||Bile and Pancreatic Ducts, Complete Absence of
D001859||Bone Neoplasms|Bone Cancer|Bone Neoplasm|Cancer of Bone|Cancer of the Bone|Neoplasm, Bone|Neoplasms, Bone
D012509||Sarcoma|Epithelioid Sarcoma|Epithelioid Sarcomas|Sarcoma, Epithelioid|Sarcomas|Sarcomas, Epithelioid|Sarcoma, Soft Tissue|Sarcoma, Spindle Cell|Sarcomas, Soft Tissue|Sarcomas, Spindle Cell|Soft Tissue Sarcoma|Soft Tissue Sarcomas|Spindle Cell Sarcoma|Spindle Cell Sarcomas
D001851||Bone Diseases, Metabolic|Bone Disease, Metabolic|Disease, Metabolic Bone|Diseases, Metabolic Bone|Metabolic Bone Disease|Metabolic Bone Diseases|Osteopenia|Osteopenias
D001850||Bone Diseases, Infectious|Bone Disease, Infectious|Disease, Infectious Bone|Diseases, Infectious Bone|Infectious Bone Disease|Infectious Bone Diseases
C535728||Dysautonomia like disorder|Dysautonomia-Like Disorder
D037801||Hammer Toe Syndrome|Clawtoe|Claw Toe|Clawtoes|Claw Toes|Hammer Toe|Hammer Toes|Hammertoe Syndrome|Hammertoe Syndromes|Mallet Toe|Mallet Toes|Syndrome, Hammertoe|Syndrome, Hammer Toe|Syndromes, Hammertoe|Toe, Claw|Toe, Hammer|Toe, Mallet|Toes, Claw|Toes, Hammer|Toes, Mallet
C535727||Dykes Markes Harper syndrome|Ichthyosis, hepatosplenomegaly, and cerebellar degeneration|Ichthyosis hepatosplenomegaly cerebellar degeneration
D013832||Thiamine Deficiency|Deficiencies, Thiamine|Deficiency, Thiamine|Thiamine Deficiencies
131760|D016110||Epidermolysis Bullosa Simplex|Acral Form EBS|Acral Form EBSs|Bullosa Simplices, Epidermolysis|EBS, Acral Form|EBS-DM|EBS, Generalized|EBSs, Acral Form|EBSs, Generalized|Epidermolysis Bullosa Herpetiformis Dowling Meara|Epidermolysis Bullosa Herpetiformis Dowling-Meara|Epidermolysis Bullosa Herpetiformis, Dowling Meara|Epidermolysis Bullosa Herpetiformis, Dowling-Meara|Epidermolysis Bullosa Herpetiformis, Dowling Meara Type|Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type|Epidermolysis Bullosa of Hands and Feet|Epidermolysis Bullosa Simplex, Cockayne Touraine Type|Epidermolysis Bullosa Simplex, Cockayne-Touraine Type|Epidermolysis Bullosa Simplex, Dowling Meara Type|Epidermolysis Bullosa Simplex, Dowling-Meara Type|Epidermolysis Bullosa Simplex, Generalized|Epidermolysis Bullosa Simplex Kobner|Epidermolysis Bullosa Simplex, Koebner Type|Epidermolysis Bullosa Simplex, Localized|Epidermolysis Bullosa Simplex, Weber Cockayne Type|Epidermolysis Bullosa Simplex, Weber-Cockayne Type|Epidermolysis Bullosa Simplices|Generalized EBS|Generalized EBSs|Weber Cockayne Syndrome|Weber-Cockayne Syndrome|Weber Cockayne Type Epidermolysis Bullosa Simplex|Weber-Cockayne Type Epidermolysis Bullosa Simplex
193000|D014718||Vesico-Ureteral Reflux|Reflux, Vesicoureteral|Reflux, Vesico-Ureteral|Vesicoureteral Reflux|Vesico Ureteral Reflux|Vesicoureteral Reflux 1|VUR|VUR1
C535720||Familial duodenal atresia|Duodenal atresia|Duodenal stenosis
C535395|256050||Atelosteogenesis type 2|AO2|AOII|Atelosteogenesis De La Chapelle Type|Atelosteogenesis, Type 2|Atelosteogenesis, Type II|De La Chapelle Dysplasia|DLCD, INCLUDED|McAlister Dysplasia|Neonatal osseous dysplasia 1|Neonatal Osseous Dysplasia I|NEONATAL OSSEOUS DYSPLASIA I DE LA CHAPELLE DYSPLASIA, INCLUDED
C535722||Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery|Duodenojejunal Atresia, Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery
C535721||Duodenal ulcer due to antral G-cell hyperfunction|Hypergastrinemic, hyperpepsinogenemic duodenal ulcer
C535724||Dwarfism stiff joint ocular abnormalities|Dwarfism with Stiff Joints and Ocular Abnormalities|Moore Federman syndrome|Moore-Federman Syndrome
607626|C564365||Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis|Ichthyosis-Sclerosing Cholangitis Syndrome|ILVASC|Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome|Nisch Syndrome
C535723||Subungual exostoses|Dupuytren subungual exostosis|Exostosis, Dupuytren Subungual
602400||ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11|ARCI11|ARIH|ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS|ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE|IFAH
C538263|607941||Atrial septal defect 2|ASD2
C535725||Dwarfism tall vertebrae|Dwarfism with disproportionately high vertebral bodies|Dwarfism with Tall Vertebrae|Short stature and tall vertebrae
607225|C537217||Hereditary spastic paralysis, infantile onset ascending|Iahsp|Infantile-Onset Ascending Hereditary Spastic Paralysis|Spastic Paralysis, Infantile Onset Ascending|Spastic Paralysis, Infantile-Onset Ascending
C567339|607728||Porokeratosis, Disseminated Superficial Actinic, 4|DSAP2|POROK4|POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE|POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2
C567838|612964||Premature Ovarian Failure 7|Pof7
C565337|605362||Cardiomyopathy, Dilated, 1J|Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant|CMD1J
D000532||Altitude Sickness|Altitude Sicknesses|Mountain Sickness|Mountain Sicknesses|Sickness, Altitude|Sicknesses, Altitude|Sicknesses, Mountain|Sickness, Mountain
D054319||Marchiafava-Bignami Disease|Marchiafava Bignami Disease|Marchiafava Bignami Syndrome|Marchiafava-Bignami Syndrome
C538380|238970||HHH syndrome|HHH|HHHS|HHH SYNDROME|Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome|Hyperornithinemia-hyperammonemia-homocitrullinuria|Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|Ornithine translocase deficiency|Triple H Syndrome
D001862||Bone Resorption|Bone Losses, Osteoclastic|Bone Loss, Osteoclastic|Bone Resorptions|Losses, Osteoclastic Bone|Loss, Osteoclastic Bone|Osteoclastic Bone Loss|Osteoclastic Bone Losses|Resorption, Bone|Resorptions, Bone
D012513||Sarcoma, Experimental|EHS Tumor|Engelbreth-Holm-Swarm Sarcoma|Experimental Sarcoma|Experimental Sarcomas|Jensen Sarcoma|Sarcoma, Engelbreth Holm Swarm|Sarcoma, Engelbreth-Holm-Swarm|Sarcoma, Jensen|Sarcomas, Experimental|Tumor, EHS
C535738||Erythrokeratodermia with ataxia|Erythrokeratodermia ataxia|Giroux Barbeau Syndrome
D012511||Sarcoma 37
D009477|256800||Hereditary Sensory and Autonomic Neuropathies|Acroosteolyses, Neurogenic|Acroosteolysis, Giaccai Type|Acroosteolysis, Neurogenic|CIPA|Congenital Insensitivity to Pain with Anhidrosis|Congenital Sensory Neuropathies|Congenital Sensory Neuropathy|Familial Dysautonomia, Type 2|Familial Dysautonomia, Type II|Giaccai Type Acroosteolysis|Hereditary Sensory and Autonomic Neuropathy 4|Hereditary Sensory And Autonomic Neuropathy IV|Hereditary Sensory and Autonomic Neuropathy Type 1|Hereditary Sensory and Autonomic Neuropathy Type 2|Hereditary Sensory and Autonomic Neuropathy, Type 4|Hereditary Sensory and Autonomic Neuropathy, Type 5|Hereditary Sensory and Autonomic Neuropathy Type I|Hereditary Sensory and Autonomic Neuropathy Type II|Hereditary Sensory and Autonomic Neuropathy Type IV|Hereditary Sensory and Autonomic Neuropathy Type V|Hereditary Sensory Autonomic Neuropathy, Type 1|Hereditary Sensory Autonomic Neuropathy, Type 2|Hereditary Sensory Autonomic Neuropathy, Type 4|Hereditary Sensory Autonomic Neuropathy, Type 5|Hereditary Sensory Neuropathies|Hereditary Sensory Neuropathy|Hereditary Sensory Neuropathy Type 1|Hereditary Sensory Neuropathy Type I|Hereditary Sensory Neuropathy Type Ia|Hereditary Sensory Radicular Neuropathy|Hereditary Sensory Radicular Neuropathy, Recessive Form|HSAN|HSAN 1|HSAN2|HSAN4|HSAN 4|HSAN5|HSAN 5|HSAN (Hereditary Sensory Autonomic Neuropathy)|HSAN I|HSANII|HSAN IV|HSANs (Hereditary Sensory Autonomic Neuropathy)|HSAN Type I|HSAN Type II|HSAN Type IV|HSAN Type V|HSAN V|HSN Type I|HSN Type II|HSN Type IIs|INSENSITIVITY TO PAIN, CONGENITAL|Insensitivity to Pain, Congenital, with Anhidrosis|Insensitivity to Pain with Anhidrosis, Congenital|Neurogenic Acroosteolyses|Neurogenic Acroosteolysis|Neuropathies, Congenital Sensory|Neuropathies, Hereditary Sensory|Neuropathies, Hereditary Sensory and Autonomic|Neuropathy, Congenital Sensory|Neuropathy, Congenital Sensory, with Anhidrosis|Neuropathy, Hereditary Sensory|Neuropathy Hereditary Sensory and Autonomic Type 1|Neuropathy, Hereditary Sensory And Autonomic, Type I|Neuropathy, Hereditary Sensory And Autonomic, Type V|Neuropathy Hereditary Sensory Radicular, Autosomal Dominant|Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant|Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive|Neuropathy, Hereditary Sensory, Type I|Neuropathy, Progressive Sensory, Of Children|Pain Insensitivity with Anhidrosis, Congenital|Sensory and Autonomic Neuropathies, Hereditary|Sensory Neuropathies, Congenital|Sensory Neuropathies, Hereditary|Sensory Neuropathy, Congenital|Sensory Neuropathy, Hereditary|Type I, HSAN|Type I, HSN|Type IV, HSAN
D012517||Sarcoma, Yoshida|Reticulum Cell Like Sarcoma, Yoshida|Reticulum Cell-Like Sarcoma, Yoshida|Yoshida Sarcoma
D012515||Mast-Cell Sarcoma|Malignant Mastocytoma|Malignant Mastocytomas|Mast Cell Sarcoma|Mast-Cell Sarcomas|Mastocytoma, Malignant|Mastocytomas, Malignant|Sarcoma, Mast Cell|Sarcoma, Mast-Cell|Sarcomas, Mast-Cell
C535730||Dyschromatosis universalis hereditaria
C535735||Congenital lobar emphysema|Emphysema, congenital lobar
D054318||No-Reflow Phenomenon|No Reflow Phenomenon|Phenomenon, Slow-Flow|Slow Flow Phenomenon|Slow-Flow Phenomenon
D012510||Sarcoma 180|Crocker Sarcoma 180|Sarcoma 180, Crocker
C535734||Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
C535736||Encephalocraniocutaneous lipomatosis|Fishman syndrome
C564277||Immunodeficiency With Hyper-Igm, Type 4|Hyper-Igm Syndrome 4
D016097||Simian Acquired Immunodeficiency Syndrome|AIDS, Simian|AIDSs, Simian|SAIDS|Simian Acquired Immune Deficiency Syndrome|Simian Acquired Immuno Deficiency Syndrome|Simian Acquired Immuno-Deficiency Syndrome|Simian AIDS|Simian AIDSs
D001832||Body Temperature Changes|Body Temperature Change|Change, Body Temperature|Changes, Body Temperature|Temperature Change, Body|Temperature Changes, Body
D007340|606960||Insulinoma|Adenoma, beta Cell|Adenoma, beta-Cell|Adenomas, beta-Cell|beta-Cell Adenoma|beta-Cell Adenomas|beta Cell Tumor|beta-Cell Tumor|beta-Cell Tumors|Insulinomas|INSULINOMA TUMOR SUPPRESSOR GENE LOCUS|Insuloma|Insulomas|Tumor, beta-Cell|Tumors, beta-Cell
D000506||Alopecia Areata|Alopecia Circumscripta
C563875|608691||Major Depressive Disorder 2|MDD2|Unipolar Depression 2
D001836||Body Weight Changes|Body Weight Change|Change, Body Weight|Changes, Body Weight|Weight Change, Body|Weight Changes, Body
C535751||Congenital disorder of glycosylation type 1X
D001835||Body Weight|Body Weights|Weight, Body|Weights, Body
C563534|161400||Narcolepsy 1|Narcoleptic Syndrome 1|NARCOLEPTIC SYNDROME 1 CATAPLEXY, INCLUDED|NRCLP1
C536603|608553||Amaurosis congenita of Leber, type 9|LCA9|Leber Congenital Amaurosis 9|Leber congenital amaurosis, type 9
D055652||Gray Platelet Syndrome|alpha-Granule Deficiencies, Platelet|alpha-Granule Deficiency, Platelet|Gray Platelet Syndromes|Grey Platelet Syndrome|Grey Platelet Syndromes|Platelet alpha-Granule Deficiencies|Platelet alpha Granule Deficiency|Platelet alpha-Granule Deficiency|Platelet Syndromes, Grey|Syndrome, Gray Platelet|Syndrome, Grey Platelet|Syndromes, Gray Platelet
C565785|604364||Epilepsy, Partial, with Variable Foci|EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI|EPILEPSY, PARTIAL, WITH VARIABLE FOCI|FFEVF|FPEVF
D056988||Anterior Wall Myocardial Infarction|Acute Anterior Wall Myocardial Infarction|Anterolateral Myocardial Infarction|Anterolateral Myocardial Infarctions|Anteroseptal Myocardial Infarction|Anteroseptal Myocardial Infarctions|Infarction, Anterolateral Myocardial|Infarction, Anteroseptal Myocardial|Infarctions, Anterolateral Myocardial|Infarctions, Anteroseptal Myocardial|Myocardial Infarction, Anterior Wall|Myocardial Infarction, Anterolateral|Myocardial Infarction, Anteroseptal|Myocardial Infarctions, Anterolateral|Myocardial Infarctions, Anteroseptal
D056989||Inferior Wall Myocardial Infarction|Acute Inferior Myocardial Infarction|Diaphragmatic Myocardial Infarction|Diaphragmatic Myocardial Infarctions|Infarction, Diaphragmatic Myocardial|Infarction, Inferior Myocardial|Infarctions, Diaphragmatic Myocardial|Infarctions, Inferior Myocardial|Inferior Myocardial Infarction|Inferior Myocardial Infarctions|Myocardial Infarction, Diaphragmatic|Myocardial Infarction, Inferior|Myocardial Infarction, Inferior Wall|Myocardial Infarctions, Diaphragmatic|Myocardial Infarctions, Inferior
C535683|602771||Rigid spine syndrome|Desmin-related myopathies with Mallory bodies|Desmin-Related Myopathy With Mallory Bodies|MDRS1|Minicore myopathy, severe classic form|Multicore myopathy, severe classic form|Multiminicore disease, severe classic form|Muscular Dystrophy, Congenital, Eichsfeld Type|Muscular dystrophy, congenital, merosin positive with early spine rigidity|Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity|Myopathy, Sepn1-Related|Rigid spine muscular dystrophy-1|Rigid Spine Muscular Dystrophy 1|RIGID SPINE SYNDROME|RSMD1|RSS
D000507||Mucinosis, Follicular|Alopecia Mucinosa|Follicular Mucinoses|Follicular Mucinosis|Mucinoses, Follicular
C564285||Pseudoxanthoma Elasticum, Modifier Of Severity Of
D056986||Euglenozoa Infections|Euglenozoa Infection|Infection, Euglenozoa|Infections, Euglenozoa
C564283||Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
D056987||Vasoplegia|Post operative Vasoplegic Syndrome|Post-operative Vasoplegic Syndrome|Postoperative Vasoplegic Syndrome|Post-operative Vasoplegic Syndromes|Syndrome, Post-operative Vasoplegic|Syndromes, Post-operative Vasoplegic|Vasoplegias|Vasoplegic Syndrome|Vasoplegic Syndrome, Post-operative|Vasoplegic Syndromes, Post-operative
C564282||Campomelic Dysplasia with Autosomal Sex Reversal
C564288||Dystonia 18|Paroxysmal Exercise-Induced Dystonia|Paroxysmal Exertion-Induced Dyskinesia
C563903|608988||Atrial Fibrillation, Familial, 2|ATFB2
C564286||Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
261630||HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C|DHPR DEFICIENCY|DIHYDROPTERIDINE REDUCTASE DEFICIENCY|HPABH4C|HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY|QDPR DEFICIENCY|QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY
D001848||Bone Diseases, Developmental|Bone Disease, Developmental|Bone Dysplasia|Bone Dysplasias|Developmental Bone Disease|Developmental Bone Diseases|Dysplasia, Bone|Dysplasias, Bone
C538246|609924||Aminoacylase 1 deficiency|ACY1D|Deficiency of the aminoacylase-1 enzyme
D001847||Bone Diseases|Bone Disease|Disease, Bone|Diseases, Bone
183900|C535788||Spondyloepiphyseal dysplasia, congenita|SEDC|SED Congenita|Sed, Congenital Type|Spondyloepiphyseal Dysplasia Congenita|Spondyloepiphyseal dysplasia, congenital type
C535762||Congenital pseudoarthrosis
D001845||Bone Cysts|Bone Cyst|Cyst, Bone|Cysts, Bone|Cyst, Solitary|Cysts, Solitary|Cysts, Subchondral|Cyst, Subchondral|Ganglia, Intraosseous|Ganglia, Intra Osseous|Ganglia, Intra-Osseous|Ganglias, Intraosseous|Ganglias, Intra-Osseous|Ganglion, Intraosseous|Ganglion, Intra Osseous|Ganglion, Intra-Osseous|Ganglions, Intra-Osseous|Intraosseous Ganglia|Intra Osseous Ganglia|Intra-Osseous Ganglia|Intraosseous Ganglias|Intra-Osseous Ganglias|Intraosseous Ganglion|Intra Osseous Ganglion|Intra-Osseous Ganglion|Intraosseous Ganglions|Intra-Osseous Ganglions|Solitary Cyst|Solitary Cysts|Subchondral Cyst|Subchondral Cysts
C536163|607654||Keratosis palmoplantaris striata 3|Keratoderma palmoplantar striate form 3|Keratoderma, Palmoplantar, Striate Form III|Keratosis Palmoplantaris Striata III|KPPS3|PPKS3|SPPK3|Striate palmoplantar keratoderma 3|Striate Palmoplantar Keratoderma III
C537521|254090||Scleroatonic muscular dystrophy|Late onset scleroatonic familial myopathy|Muscular Dystrophy, Scleroatonic|UCMD|Ullrich congenital muscular dystrophy|Ullrich disease|Ullrich scleroatonic muscular dystrophy
D015212|266600||Inflammatory Bowel Diseases|Bowel Diseases, Inflammatory|CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED|CROHN DISEASE, INCLUDED|IBD1|Inflammatory Bowel Disease|INFLAMMATORY BOWEL DISEASE 1|REGIONAL ENTERITIS, INCLUDED|ULCERATIVE COLITIS, INCLUDED
121201||SEIZURES, BENIGN FAMILIAL NEONATAL, 2|BFNC2|BFNS2|CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2
C536277|604288||Idiopathic dilation cardiomyopathy|Cardiomyopathy, Dilated, 1h|Cardiomyopathy, Dilated, With Conduction Defect|CMD1H|Dilated cardiomyopathy with conduction defect
121200||SEIZURES, BENIGN FAMILIAL NEONATAL, 1|BFNS1|EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED|SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
D019871|305000||Dyskeratosis Congenita|CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED|Congenita, X-Linked Dyskeratosis|DKCX|Dyskeratosis Congenita, X Linked|Dyskeratosis Congenita, X-Linked|GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED|HHS, INCLUDED|Syndrome, Zinsser-Cole-Engman|X-Linked Dyskeratosis Congenita|X-Linked Dyskeratosis Congenitas|Zinsser Cole Engman Syndrome|Zinsser-Cole-Engman Syndrome|ZINSSER-COLE-ENGMAN SYNDROME HOYERAAL-HREIDARSSON SYNDROME, INCLUDED
D001849||Bone Diseases, Endocrine|Bone Disease, Endocrine|Disease, Endocrine Bone|Diseases, Endocrine Bone|Endocrine Bone Disease|Endocrine Bone Diseases
C535757||Congenital ectodermal dysplasia with hearing loss|Mikaelian syndrome
C537014|611775||Infantile polyarteritis|INFANTILE POLYARTERITIS|KAWASAKI DISEASE|KD|MUCOCUTANEOUS LYMPH NODE SYNDROME
D055665||Purpura Fulminans|Fulminans, Purpura
C536645|169610||Pemphigus vulgaris, familial|Familial pemphigus vulgaris
C535758||Congenital heart block|Congenital complete heart block|Familial congenital heart block|Heart Block, Congenital
C566798||Platelet Factor 3 Deficiency
C564135||Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
224690|C538012||Meier-Gorlin syndrome|Ear, patella, short stature syndrome|EPS|MEIER-GORLIN SYNDROME|MEIER-GORLIN SYNDROME 1|MEIER-GORLIN SYNDROME 2|MEIER-GORLIN SYNDROME 3|MEIER-GORLIN SYNDROME 4|MEIER-GORLIN SYNDROME 5|MGORS1|MGORS2|MGORS3|MGORS4|MGORS5|Microtia, absent patellae, micrognathia syndrome
D001932||Brain Neoplasms|Benign Brain Neoplasm|Benign Brain Neoplasms|Benign Neoplasm, Brain|Benign Neoplasms, Brain|Brain Benign Neoplasm|Brain Benign Neoplasms|Brain Cancer|Brain Cancers|Brain Malignant Neoplasm|Brain Malignant Neoplasms|Brain Neoplasm|Brain Neoplasm, Benign|Brain Neoplasm, Malignant|Brain Neoplasm, Primary|Brain Neoplasms, Benign|Brain Neoplasms, Malignant|Brain Neoplasms, Malignant, Primary|Brain Neoplasms, Primary|Brain Neoplasms, Primary Malignant|Brain Tumor|Brain Tumor, Primary|Brain Tumor, Recurrent|Brain Tumors|Brain Tumors, Primary|Brain Tumors, Recurrent|Cancer, Brain|Cancer of Brain|Cancer of the Brain|Cancers, Brain|Intracranial Neoplasm|Intracranial Neoplasms|Malignant Brain Neoplasm|Malignant Brain Neoplasms|Malignant Neoplasm, Brain|Malignant Neoplasms, Brain|Malignant Primary Brain Neoplasms|Malignant Primary Brain Tumors|Neoplasm, Brain|Neoplasm, Intracranial|Neoplasms, Brain|Neoplasms, Brain, Benign|Neoplasms, Brain, Malignant|Neoplasms, Brain, Primary|Neoplasms, Intracranial|Primary Brain Neoplasm|Primary Brain Neoplasms|Primary Brain Tumor|Primary Brain Tumors|Primary Malignant Brain Neoplasms|Primary Malignant Brain Tumors|Recurrent Brain Tumor|Recurrent Brain Tumors|Tumor, Brain|Tumors, Brain
C536866|600363||Spastic paraplegia 6, autosomal dominant|Familial spastic paraplegia, autosomal dominant 3|Familial Spastic Paraplegia, Autosomal Dominant, 3|Fsp3|Spg6
C565468||Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
C566799||Platelet Disorder, Undefined
614380||COMPLEMENT COMPONENT 4A DEFICIENCY|C4AD|C4A DEFICIENCY
C565469||Immune Deficiency Disease
D001930||Brain Injuries|Acute Brain Injuries|Acute Brain Injury|Brain Contusion|Brain Contusions|Brain Injuries, Acute|Brain Injuries, Diffuse|Brain Injuries, Focal|Brain Injuries, Traumatic|Brain Injury|Brain Injury, Acute|Brain Injury, Diffuse|Brain Injury, Focal|Brain Injury, Traumatic|Brain Laceration|Brain Lacerations|Brain Trauma|Brain Traumas|Contusion, Brain|Contusion, Cortical|Contusions, Brain|Contusions, Cortical|Cortical Contusion|Cortical Contusions|Diffuse Brain Injuries|Diffuse Brain Injury|Encephalopathies, Post-Concussive|Encephalopathies, Post-Traumatic|Encephalopathies, Traumatic|Encephalopathy, Post Concussive|Encephalopathy, Post-Concussive|Encephalopathy, Post Traumatic|Encephalopathy, Post-Traumatic|Encephalopathy, Traumatic|Focal Brain Injuries|Focal Brain Injury|Injuries, Acute Brain|Injuries, Brain|Injuries, Diffuse Brain|Injuries, Focal Brain|Injuries, Traumatic Brain|Injury, Acute Brain|Injury, Brain|Injury, Brain, Traumatic|Injury, Brain, Traumatic Mild|Injury, Diffuse Brain|Injury, Focal Brain|Injury, Traumatic Brain|Laceration, Brain|Lacerations, Brain|Mild Traumatic Brain Injury|Post-Concussive Encephalopathies|Post Concussive Encephalopathy|Post-Concussive Encephalopathy|Post-Traumatic Encephalopathies|Post Traumatic Encephalopathy|Post-Traumatic Encephalopathy|TBIs (Traumatic Brain Injury)|TBI (Traumatic Brain Injury)|Trauma, Brain|Traumas, Brain|Traumatic Brain Injuries|Traumatic Brain Injury|Traumatic Encephalopathies|Traumatic Encephalopathy
C566954|611407||Cardiomyopathy, Dilated, 1w|CMD1W
C566794||Platelet Alpha/Delta Storage Pool Deficiency
D001935||Branchioma|Branchial Cleft Cyst|Branchial Cleft Cysts|Branchial Cyst|Branchial Cysts|Branchiomas|Cleft Cyst, Branchial|Cleft Cysts, Branchial|Cyst, Branchial|Cyst, Branchial Cleft|Cysts, Branchial|Cysts, Branchial Cleft
C565465||Inosine Phosphorylase Deficiency, Immune Defect Due To
C566796||Platelet Signal Processing Defect
C565466||Indolylacroyl Glycinuria with Mental Retardation
C564136||Immune Deficiency, Familial Variable
D013919||Thromboangiitis Obliterans|Buerger Disease|Buerger&apos;s Disease|Buergers Disease|Disease, Buerger|Disease, Buerger&apos;s|Thromboangitis Obliterans
D001249|600807||Asthma|Asthma, Bronchial|ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN, INCLUDED|ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO ASTHMA, PROTECTION AGAINST, INCLUDED|Asthmas|ASTHMA, SUSCEPTIBILITY TO|Bronchial Asthma
605027|D008228||Lymphoma, Non-Hodgkin|Diffuse Lymphoma|Diffuse Lymphomas|Diffuse Mixed Cell Lymphoma|Diffuse Mixed-Cell Lymphoma|Diffuse Mixed-Cell Lymphomas|Diffuse Mixed Small and Large Cell Lymphoma|Diffuse Small Cleaved Cell Lymphoma|Diffuse Small Cleaved-Cell Lymphoma|Diffuse Undifferentiated Lymphoma|Diffuse Undifferentiated Lymphomas|High-Grade Lymphoma|High-Grade Lymphomas|Intermediate-Grade Lymphoma|Intermediate-Grade Lymphomas|Low-Grade Lymphoma|Low-Grade Lymphomas|Lymphatic Sarcoma|Lymphatic Sarcomas|Lymphocytic-Histiocytic Lymphoma, Mixed|Lymphocytic-Histiocytic Lymphomas, Mixed|Lymphoma, Atypical Diffuse Small Lymphoid|Lymphoma, Diffuse|Lymphoma, Diffuse Mixed-Cell|Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic|Lymphoma, Diffuse Undifferentiated|Lymphoma, High Grade|Lymphoma, High-Grade|Lymphoma, Intermediate Grade|Lymphoma, Intermediate-Grade|Lymphoma, Low Grade|Lymphoma, Low-Grade|Lymphoma, Mixed|Lymphoma, Mixed Cell|Lymphoma, Mixed-Cell|Lymphoma, Mixed Cell, Diffuse|Lymphoma, Mixed-Cell, Diffuse|Lymphoma, Mixed Lymphocytic Histiocytic|Lymphoma, Mixed Lymphocytic-Histiocytic|Lymphoma, Mixed Small and Large Cell, Diffuse|Lymphoma, Nonhodgkin|Lymphoma, Non Hodgkin|Lymphoma, Non-Hodgkin, Familial|Lymphoma, Nonhodgkins|Lymphoma, Nonhodgkin&apos;s|Lymphoma, Non Hodgkins|Lymphoma, Non Hodgkin&apos;s|Lymphoma, Non-Hodgkins|Lymphoma, Non-Hodgkin&apos;s|Lymphoma, Pleomorphic|Lymphomas, Diffuse|Lymphomas, Diffuse Mixed-Cell|Lymphomas, Diffuse Undifferentiated|Lymphomas, High-Grade|Lymphomas, Intermediate-Grade|Lymphomas, Low-Grade|Lymphoma, Small and Large Cleaved-Cell, Diffuse|Lymphoma, Small Cleaved Cell, Diffuse|Lymphoma, Small Cleaved-Cell, Diffuse|Lymphoma, Small Noncleaved Cell|Lymphoma, Small Noncleaved-Cell|Lymphoma, Small Non Cleaved Cell|Lymphoma, Small Non-Cleaved-Cell|Lymphomas, Mixed|Lymphomas, Mixed-Cell|Lymphomas, Mixed Lymphocytic-Histiocytic|Lymphomas, Pleomorphic|Lymphomas, Small Noncleaved-Cell|Lymphomas, Small Non-Cleaved-Cell|Lymphomas, Undifferentiated|Lymphoma, Undifferentiated|Lymphoma, Undifferentiated, Diffuse|Lymphosarcoma|Lymphosarcomas|Mixed Cell Lymphoma|Mixed-Cell Lymphoma|Mixed Cell Lymphoma, Diffuse|Mixed-Cell Lymphoma, Diffuse|Mixed-Cell Lymphomas|Mixed-Cell Lymphomas, Diffuse|Mixed Lymphocytic-Histiocytic Lymphoma|Mixed Lymphocytic-Histiocytic Lymphomas|Mixed Lymphoma|Mixed Lymphomas|Mixed Small and Large Cell Lymphoma, Diffuse|NHL|Noncleaved-Cell Lymphoma, Small|Non-Cleaved-Cell Lymphoma, Small|Noncleaved-Cell Lymphomas, Small|Non-Cleaved-Cell Lymphomas, Small|Non Hodgkin Lymphoma|Non-Hodgkin Lymphoma|Nonhodgkin&apos;s Lymphoma|Nonhodgkins Lymphoma|Non Hodgkin&apos;s Lymphoma|Non-Hodgkin&apos;s Lymphoma|Non-Hodgkins Lymphoma|Pleomorphic Lymphoma|Pleomorphic Lymphomas|Reticulosarcoma|Reticulosarcomas|Reticulum Cell Sarcoma|Reticulum-Cell Sarcoma|Reticulum-Cell Sarcomas|Sarcoma, Lymphatic|Sarcoma, Reticulum Cell|Sarcoma, Reticulum-Cell|Sarcomas, Lymphatic|Sarcomas, Reticulum-Cell|Small Cleaved Cell Lymphoma, Diffuse|Small Cleaved-Cell Lymphoma, Diffuse|Small Noncleaved Cell Lymphoma|Small Noncleaved-Cell Lymphoma|Small Non Cleaved Cell Lymphoma|Small Non-Cleaved-Cell Lymphoma|Small Noncleaved-Cell Lymphomas|Small Non-Cleaved-Cell Lymphomas|Undifferentiated Lymphoma|Undifferentiated Lymphoma, Diffuse|Undifferentiated Lymphomas|Undifferentiated Lymphomas, Diffuse
D056733|160980||Carney Complex|CAR|Carney Complex, Type 1|Carney Complex, Type 2|Carney Complex, Type I|Carney Complex, Type II|Carney Myxoma Endocrine Complex|Carney Myxoma-Endocrine Complex|CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2|Carney Myxoma Endocrine Complex, Type II|Carney Myxoma-Endocrine Complex, Type II|Carney Syndrome|CNC1|CNC2|Complex, Carney|Complex, Carney Myxoma-Endocrine|LAMB - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome|LAMB Syndrome|LAMB Syndromes|Myxoma-Endocrine Complex, Carney|Myxoma, Spotty Pigmentation, and Endocrine Overactivity|NAME Syndrome|NAME Syndromes|Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome|Syndrome, Carney|Syndrome, LAMB|Syndromes, LAMB
C562602|606824||Glucose-Galactose Malabsorption|Carbohydrate Intolerance|Complex Carbohydrate Intolerance|GGM|Glucose Galactose Malabsorption|GLUCOSE/GALACTOSE MALABSORPTION|GM|Monosaccharide Malabsorption
601072||DEAFNESS, AUTOSOMAL RECESSIVE 8|DEAFNESS, AUTOSOMAL RECESSIVE 10|DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8|DFNB10|DFNB8|NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8|NSRD8
C565471||Ichthyosis, Split Hairs, and Amino Aciduria
D000608||Renal Aminoacidurias|Aminoaciduria, Renal|Aminoacidurias, Renal|Renal Aminoaciduria
C567063|300676||Mental Retardation, X-Linked, Syndromic 14|MRXS14
C565473||Self-Healing Collodion Baby
154500|D008342||Mandibulofacial Dysostosis|Collins Syndrome, Treacher|Dysostoses, Mandibulofacial|Dysostosis, Mandibulofacial|Franceschetti-Zwahlen-Klein Syndrome|Mandibulofacial Dysostoses|MANDIBULOFACIAL DYSOSTOSIS|Mandibulofacial Dysostosis (MFD1)|MFD1|Syndrome, Treacher Collins|TCOF|TCS|TCS1|Treacher Collins-Franceschetti Syndrome|Treacher Collins Syndrome|TREACHER COLLINS SYNDROME 1
C537834|217800||Macular dystrophy, corneal type 1|Corneal dystrophy, macular type|Groenouw type II corneal dystrophy|Macular corneal dystrophy type 1|Macular Corneal Dystrophy, Type I|MACULAR CORNEAL DYSTROPHY, TYPE I MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED|Macular Dystrophy, Corneal, 1|Mcd|Mcdc1
C564140||Leber Congenital Amaurosis 11
C565478||Hypophosphatemia, Renal, with Intracerebral Calcifications
C564146||Odontohypophosphatasia
D041441|312700||Retinoschisis|Congenital X-Linked Retinoschisis|Degenerative Retinoschises|Degenerative Retinoschisis|Juvenile Retinoschises|Juvenile Retinoschises, X-Linked|Juvenile Retinoschisis|Juvenile Retinoschisis, X-Linked|Juvenile, Retinoschisis X-Linked|Juveniles, Retinoschisis X-Linked|Retinoschises|Retinoschises, Degenerative|Retinoschises, Juvenile|Retinoschises, X-Linked|Retinoschises, X-Linked Juvenile|RETINOSCHISIS 1, X-LINKED, JUVENILE|Retinoschisis, Degenerative|Retinoschisis, Juvenile|Retinoschisis, Juvenile, X Chromosome-Linked|Retinoschisis, Juvenile, X-Linked|Retinoschisis, X Linked|Retinoschisis, X-Linked|Retinoschisis X Linked Juvenile|Retinoschisis X-Linked Juvenile|Retinoschisis, X-Linked Juvenile|Retinoschisis X-Linked Juveniles|RS|RS1|X-Linked Juvenile Retinoschises|X Linked Juvenile Retinoschisis|X-Linked Juvenile Retinoschisis|X-Linked Juvenile, Retinoschisis|X-Linked Juveniles, Retinoschisis|X-Linked Retinoschises|X Linked Retinoschisis|X-Linked Retinoschisis|XLRS1
C564144||Hypoplasia of Teeth Roots
D001941||Breast Diseases|Breast Disease|Breast Disease, Endocrine|Breast Diseases, Endocrine|Disease, Breast|Disease, Endocrine Breast|Diseases, Breast|Diseases, Endocrine Breast|Endocrine Breast Disease|Endocrine Breast Diseases
C564143||Hypotrichosis Simplex of Scalp|Hypotrichosis, Spanish Type
C565475||Hypouricemia, Hypercalcinuria, and Decreased Bone Density
D001946||Breech Presentation|Breech, Complete|Breech Fetal Presentation|Breech, Incomplete|Breech Labor Presentation|Breech Presentation, Frank|Complete Breech|Fetal Presentation, Breech|Frank Breech Presentation|Incomplete Breech|Labor Presentation, Breech|Presentation, Breech|Presentation, Breech Fetal|Presentation, Breech Labor|Presentation, Frank Breech
C564148||Hypoparathyroidism, Autosomal Recessive
C565477||Hypopituitarism, Congenital, with Central Diabetes Insipidus
D013927||Thrombosis|Thromboses|Thrombus
614379||COMPLEMENT COMPONENT 4B DEFICIENCY|C4BD|C4B DEFICIENCY
D013921||Thrombocytopenia|Thrombocytopenias|Thrombopenia|Thrombopenias
D013922||Thrombocytosis|Thrombocythemia|Thrombocythemias|Thrombocytoses
C536907||Thymic-Renal-Anal-Lung dysplasia
C536904||Thumb deformity, alopecia, pigmentation anomaly|Congenital deformity of the thumb and congenital alopecia|Hypotrichosis associated with congenital hypoplasia of the thumb
C536905||Thymic epithelial tumor|Epithelial tumor of thymus|Thymoma, adult
D013923||Thromboembolism|Thromboembolisms
C536908||Thyrocerebral-retinal syndrome|Thyrocerebroretinal syndrome
D013924||Thrombophlebitis|Dolens, Phlegmasia Alba|Phlegmasia Alba Dolens|Thrombophlebitides
C536909||Thyroglossal tract cyst|Familial thyroglossal duct cyst|Hereditary thyroglossal duct cysts|Thyroglossal Duct Cyst, Familial|Thyroglossal duct cysts familial
C565481||Hypohidrosis aith Abnormal Palmar Dermal Ridges|Sweat Gland Hypoplasia
C565482||Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
C565484||Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica
D001948||Brenner Tumor|Benign Brenner Tumor|Brenner Tumor, Benign|Brenner Tumor, Malignant|Brenner Tumor of Ovary|Brenner Tumor, Proliferative|Malignant Brenner Tumor|Ovarian Brenner Tumor|Ovary Brenner Tumor|Proliferative Brenner Tumor
C536903||Thumb deformity|Thumb absent or hypoplastic|Thumb hypoplastic
C564152||Hypertrophia Musculorum Vera
C536900||Thrombomodulin anomalies, familial
C564151||Hypocalciuric Hypercalcemia, Acquired
C536901||Thrombotic thrombocytopenic purpura, acquired|Idiopathic thrombotic thrombocytopenic purpura|Moschowitz syndrome
611283|C535541||Isobutyryl-CoA dehydrogenase deficiency|ACAD8 DEFICIENCY|Acyl-CoA dehydrogenase family, member 8, deficiency of|IBD DEFICIENCY|Isobutyryl-Coenzyme A Dehydrogenase Deficiency
C566776||Polyposis, Intestinal, With Multiple Exostoses
C565446||Lactic Aciduria due to D-Lactic Acid
C564112||Leukemia, Acute, X-Linked
C566778||Adenomatous Polyposis Coli, Attenuated|Brain Tumor-Polyposis Syndrome 2
260350||PANCREATIC CANCER PANCREATIC CARCINOMA|PANCREATIC ACINAR CARCINOMA
C564110||Macular Dystrophy, X-Linked
C565441||Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer
C565442||Leg, Absence Deformity of, with Congenital Cataract
C566773||Polysyndactyly, Crossed
D016170||Accelerated Idioventricular Rhythm|Accelerated Idioventricular Rhythms|AIVR|Idioventricular Rhythm, Accelerated|Idioventricular Rhythms, Accelerated|Slow Ventricular Tachycardia|Slow Ventricular Tachycardias|Ventricular Tachycardia, Slow|Ventricular Tachycardias, Slow
D001913||Bowen&apos;s Disease|Bowen Disease|Bowens Disease|Disease, Bowen|Disease, Bowen&apos;s
C566774||Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
D016171||Torsades de Pointes|de Pointes, Torsade|de Pointes, Torsades|Pointes, Torsade de|Pointes, Torsades de|Torsade de Pointes
D001912||Bovine Virus Diarrhea-Mucosal Disease|Bovine Virus Diarrhea Mucosal Disease|Mucosal Disease, Bovine Viral Diarrhea
C566775||Polyposis Of Gastric Fundus Without Polyposis Coli|Fundic Gland Polyposis
C564118||Jaundice, Familial Obstructive, of Infancy
C562490|115080||Cardiac Conduction Defect|FAMILIAL SUDDEN DEATH, INCLUDED|SCD, INCLUDED|SUDDEN CARDIAC DEATH, INCLUDED
D004195||Disease Models, Animal|Animal Disease Model|Animal Disease Models|Disease Model, Animal
C536918||Tibia absent polydactyly arachnoid cyst
C567652|613291||Bile Acid Malabsorption, Primary|PBAM
D004194||Disease|Diseases
C536916||Thyroid hormone plasma membrane transport defect|Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport|Thyroid hormone resistance due to T4 plasma membrane transport defect
D053159||Dysuria
C536910||Thyroid cancer, anaplastic|Anaplastic thyroid cancer|Anaplastic thyroid carcinoma|Thyroid carcinoma, anaplastic
C566780||Actinic Prurigo|Polymorphic Light Eruption, Hereditary
D053158||Nocturia|Nycturia
C566781||Juvenile Spring Eruption of Ears
D017497||Hidradenitis Suppurativa|Acne Inversa|Acne Inversas|Hidradenitides, Suppurative|Hidradenitis, Suppurative|Inversa, Acne|Inversas, Acne|Suppurative Hidradenitides|Suppurative Hidradenitis
C564120||Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein|Gpl115 Deficiency
C536914||Thyroid cancer, medullary|Medullary thyroid cancer (MTC)|Thyroid carcinoma, medullary
D017499||Porokeratosis|Disseminated Superficial Actinic Porokeratosis|Keratoderma Palmoplantar, Punctate Type 2|Linear Porokeratosis|Mibelli Porokeratosis|Palmoplantar Porokeratosis|Porokeratosis, Disseminated Superficial Actinic|Porokeratosis, Disseminated Superficial Actinic 2|Porokeratosis, Disseminated Superficial Actinic, 2|Porokeratosis, Linear|Porokeratosis, Mibelli|Porokeratosis of Mibelli|Porokeratosis Palmaris et Plantaris Disseminata|Porokeratosis, Palmar, Plantar, And Disseminated 1|Porokeratosis, Palmoplantar|Porokeratosis Plantaris Palmaris et Disseminata|Porokeratosis Plantaris, Palmaris, Et Disseminata|Porokeratosis, Punctate|Punctate Porokeratosis|Type 2 Punctate PPK
D001919||Bradycardia|Bradyarrhythmia|Bradyarrhythmias|Bradycardias
C565456||Keratoconus And Congenital Hip Dysplasia
C564122||Hyperthyroxinemia due to Decreased Peripheral Conversion of T4|5-Prime-Deiodinase Deficiency, Generalized, Causing Euthyroid Hyperthyroxinemia
C565452||Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis|Burton Syndrome
C566783||Crossed Polydactyly, Type I
C564128||Indifference to Pain, Congenital, Autosomal Dominant|Congenital Analgesia, Autosomal Dominant
D016180||Lentivirus Infections|Infection, Lentivirus|Infections, Lentivirus|Lentivirus Infection
D001925||Brain Damage, Chronic|Chronic Brain Damage|Chronic Encephalopathy|Encephalopathy, Chronic
C565453||Ketoadipicaciduria
C566784||Polydactyly, Preaxial III|Index Finger Polydactyly
C564127||Inosine Triphosphatase Deficiency
D016181||Feline Acquired Immunodeficiency Syndrome|AIDS, Feline|FAIDS|Feline Acquired Immune Deficiency Syndrome|Feline Acquired Immuno Deficiency Syndrome|Feline Acquired Immuno-Deficiency Syndrome|Feline AIDS
D001924||Brain Concussion|Brain Concussions|Cerebral Concussion|Cerebral Concussions|Commotio Cerebri|Concussion, Brain|Concussion, Cerebral|Concussion, Intermediate|Concussion, Mild|Concussion, Severe|Intermediate Concussion|Intermediate Concussions|Mild Concussion|Mild Concussions|Severe Concussion|Severe Concussions
C565454||Keratoderma, Palmoplantar, Norrbotten Recessive Type
D016182||Visna|Encephalomyelitides, Ovine|Encephalomyelitis, Ovine|Ovine Encephalomyelitides|Ovine Encephalomyelitis|Visnas
C565455||Keratoconus Posticus Circumscriptus with Associated Malformations|KPC with Associated Malformations
C564125||Internal Carotid Artery, Spontaneous Dissection of
D016183||Murine Acquired Immunodeficiency Syndrome|AIDS, Murine|AIDSs, Murine|MAIDS|Murine Acquired Immune Deficiency Syndrome|Murine Acquired Immuno Deficiency Syndrome|Murine Acquired Immuno-Deficiency Syndrome|Murine AIDS|Murine AIDSs
D001922||Brain Abscess|Abscess, Brain|Abscess, Cerebral|Abscess, Child Brain|Abscesses, Cerebral|Abscesses, Multiple Brain|Abscess, Multiple Brain|Abscess, Pyogenic Brain|Brain Abscess, Child|Brain Abscesses|Brain Abscesses, Multiple|Brain Abscesses, Pyogenic|Brain Abscesses, Sterile|Brain Abscess, Multiple|Brain Abscess, Pyogenic|Brain Abscess, Sterile|Cerebral Abscess|Cerebral Abscesses|Child Brain Abscess|Multiple Brain Abscess|Multiple Brain Abscesses|Pyogenic Brain Abscess|Pyogenic Brain Abscesses|Sterile Brain Abscess|Sterile Brain Abscesses
D004198||Disease Susceptibility|Diatheses|Diathesis|Disease Susceptibilities|Susceptibilities, Disease|Susceptibility, Disease
C563869|608728||Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related|SEMD, MATN3-RELATED
D029481||Bronchitis, Chronic|Chronic Bronchitis
C536927||Tunglang Savage Bellman syndrome|Hearing loss and familial salivary gland insensitivity to aldosterone|Hearing loss insensitivity to aldosterone
D013901||Thoracic Outlet Syndrome|Aperture Syndrome, Thoracic Outlet|Arterial Thoracic Outlet Syndrome|Costoclavicular Syndrome|Costoclavicular Syndromes|Nerve Compression Syndrome, Thoracic Outlet|Neurogenic Thoracic Outlet Syndrome|Neurologic Syndrome, Thoracic Outlet|Neurovascular Syndrome, Thoracic Outlet|Outlet Syndromes, Thoracic|Outlet Syndrome, Thoracic|Scalenus Anticus Syndrome|Superior Thoracic Aperture Syndrome|Syndrome, Costoclavicular|Syndrome, Scalenus Anticus|Syndromes, Costoclavicular|Syndromes, Thoracic Outlet|Syndrome, Thoracic Outlet|Thoracic Outlet Nerve Compression Syndrome|Thoracic Outlet Neurologic Syndrome|Thoracic Outlet Neurovascular Syndrome|Thoracic Outlet Syndrome, Neurogenic|Thoracic Outlet Syndromes|Venous Thoracic Outlet Syndrome
C563786|609152||Hyperthyroidism, Nonautoimmune|Hyperthyroidism, Congenital Nonautoimmune|Hyperthyroidism, Nonautoimmune, Autosomal Dominant|Toxic Thyroid Hyperplasia, Autosomal Dominant
D001929||Brain Edema|Brain Edema, Cytotoxic|Brain Edema, Vasogenic|Brain Swelling|Brain Swellings|Cerebral Edema|Cerebral Edema, Cytotoxic|Cerebral Edemas, Vasogenic|Cerebral Edema, Vasogenic|Cytotoxic Brain Edema|Cytotoxic Cerebral Edema|Edema, Brain|Edema, Cerebral|Edema, Cytotoxic Brain|Edema, Cytotoxic Cerebral|Edema, Intracranial|Edema, Vasogenic Brain|Edema, Vasogenic Cerebral|Intracranial Edema|Swelling, Brain|Vasogenic Brain Edema|Vasogenic Cerebral Edema
C536921||Tiglic acidemia|Disorder of isoleucine metabolism
C565460||Jejunal Atresia with Microcephaly and Ocular Anomalies|Apple Peel Syndrome with Microcephaly and Ocular Anomalies|Stromme Syndrome
D001928||Brain Diseases, Metabolic|Acquired Metabolic Diseases, Brain|Acquired Metabolic Diseases, Nervous System|Acquired Metabolic Encephalopathies|Acquired Metabolic Encephalopathy|Brain Disease, Metabolic|Brain Diseases, Metabolic, Acquired|Brain Disorder, Metabolic|Brain Disorders, Metabolic|Brain Disorders, Metabolic, Acquired|Brain Metabolic Disorder|Brain Metabolic Disorders|Brain Syndrome, Metabolic|Brain Syndrome, Metabolic, Acquired|Central Nervous System Metabolic Disorders|CNS Metabolic Disorder|CNS Metabolic Disorders|CNS Metabolic Disorders, Acquired|Encephalopathies, Acquired Metabolic|Encephalopathies, Metabolic|Encephalopathy, Acquired Metabolic|Encephalopathy, Metabolic|Encephalopathy, Metabolic, Acquired|Metabolic Brain Disease|Metabolic Brain Diseases|Metabolic Brain Diseases, Acquired|Metabolic Brain Disorder|Metabolic Brain Disorders|Metabolic Brain Syndrome|Metabolic Brain Syndrome, Acquired|Metabolic Brain Syndromes|Metabolic Brain Syndromes, Acquired|Metabolic Diseases, Acquired, Nervous System|Metabolic Disorder, Brain|Metabolic Disorder, Central Nervous System, Acquired|Metabolic Disorder, CNS|Metabolic Disorders, Brain|Metabolic Disorders, Central Nervous System|Metabolic Disorders, CNS|Metabolic Disorders, CNS, Acquired|Metabolic Encephalopathies|Metabolic Encephalopathies, Acquired|Metabolic Encephalopathy|Metabolic Encephalopathy, Acquired|Nervous System Acquired Metabolic Diseases
C565461||Intrinsic Factor and R Binder, Combined Congenital Deficiency of
C566792||Potter Type III Polycystic Kidney Disease
D001927||Brain Diseases|Brain Disease|Brain Disorder|Brain Disorders|Brain Pathology|Central Nervous System Disorders, Intracranial|Central Nervous System Intracranial Disorders|CNS Disorder, Intracranial|CNS Disorders, Intracranial|Encephalon Disease|Encephalon Diseases|Intracranial Central Nervous System Disorders|Intracranial CNS Disorder|Intracranial CNS Disorders|Pathology, Brain
C565462||Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
C566793||Pectoralis Muscle, Absence of
C535556|300262||Abidi X-linked mental retardation syndrome|Mental retardation X-linked, Abidi type|Mental Retardation, X-Linked, Abidi Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, ABIDI TYPE|MRXSAB|Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes
D001926||Brain Death|Brain Dead|Brain Deads|Coma Depasse|Coma, Irreversible|Death, Brain|Irreversible Coma
C536924||Tufted angioma|Angioma, tufted
C564131||Kappa-Chain Deficiency
604715|D054971||Orthostatic Intolerance|Intolerance, Orthostatic|IRRITABLE HEART|MITRAL VALVE PROLAPSE SYNDROME|NEUROCIRCULATORY ASTHENIA|SOLDIERS HEART
C536922||Tubulointerstitial nephritis and uveitis|Tubulointerstitial Nephritis with Uveitis
C536923||Tucker syndrome|Congenital bilateral recurrent nerve paralysis and ptosis|Ptosis vocal cord paralysis|Vocal Cord Paralysis And Ptosis
C566754||Pruritus, Hereditary Localized
C566755||Hyperprothrombinemia|Prothrombin G20210a Thrombophilia|Prothrombin Thrombophilia
C565021|134610||Familial Mediterranean Fever, Autosomal Dominant|FMF, AUTOSOMAL DOMINANT
C565425||Macrosomia Adiposa Congenita
D017484||Dermatitis, Phototoxic|Contact Dermatitides, Phototoxic|Contact Dermatitis, Phototoxic|Dermatitides, Phototoxic|Dermatitides, Phototoxic Contact|Dermatitis, Contact, Phototoxic|Dermatitis, Phototoxic Contact|Phototoxic Contact Dermatitides|Phototoxic Contact Dermatitis|Phototoxic Dermatitides|Phototoxic Dermatitis|Phototoxicity
C566757||Pronation-Supination Of The Forearm, Impairment Of
D016154||Digestive System Fistula|Digestive System Fistulas|Fistula, Digestive System|Fistulas, Digestive System
C566750||Acholinesterasemia
C565420||Mandibulofacial Dysostosis with Mental Deficiency
C566751||Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type|Hypocholinesterasemia, Fluoride-Resistant, Japanese Type
C565421||Malocclusion and Short Stature
C566753||Pseudoarthrogryposis|Ankylosis at Elbow and Knee|Hereditary Congenital Rigidity of Elbows and Knees
D004169||Diphyllobothriasis|Diphyllobothriases
116600||CATARACT 6, MULTIPLE TYPES|ARCC2|CATARACT, AGE-RELATED CORTICAL, 2|CATARACT, POSTERIOR POLAR, 1|CTPP1|CTRCT6
160900|C538008||Dystrophia myotonica 1|DM|DM1|DYSTROPHIA MYOTONICA|DYSTROPHIA MYOTONICA 1|Myotonic dystrophy 1|STEINERT DISEASE|Steinert myotonic dystrophy
D005497||Follicular Cyst|Cyst, Follicular|Cysts, Follicular|Follicular Cysts
C565427||Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis
D049914||DNA Repair-Deficiency Disorders|Chromosome Instability Syndrome|Chromosome Instability Syndromes|Deficient DNA Repair|Deficient DNA Repairs|Disorder, DNA Repair-Deficiency|Disorders, DNA Repair-Deficiency|DNA Repair-Deficiencies|DNA Repair Deficiency|DNA Repair-Deficiency|DNA Repair-Deficiency Disorder|DNA Repair Deficiency Disorders|DNA Repair, Deficient|DNA Repairs, Deficient|Repair, Deficient DNA|Repairs, Deficient DNA|Syndrome, Chromosome Instability|Syndromes, Chromosome Instability
C565428||Lymphokine Deficiency
D004165||Diphtheria|Diphtherias
C566759||Primary Release Disorder Of Platelets
D005499||Folliculitis|Folliculitides|Sycoses|Sycosis
256850|D056768||Giant Axonal Neuropathy|Axonal Neuropathy, Giant|Axonal Neuropathy, Giant (GAN)|GAN|GAN1|Giant Axonal Neuropathy 1|GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE|Giant Axonal Neuropathy 1 (GAN1)|Giant Axonal Neuropathy (GAN)|Neuropathy, Giant Axonal|Neuropathy, Giant Axonal, Autosomal Recessive|Neuropathy, Giant Axonal (GAN)
D004172||Diplopia|Cortical Diplopia|Cortical Diplopias|Diplopia, Cortical|Diplopia, Horizontal|Diplopia, Intermittent|Diplopia, Monocular|Diplopia, Refractive|Diplopias|Diplopias, Cortical|Diplopias, Horizontal|Diplopias, Intermittent|Diplopias, Monocular|Diplopias, Refractive|Diplopias, Unilateral|Diplopias, Vertical|Diplopia, Unilateral|Diplopia, Vertical|Double Vision|Horizontal Diplopia|Horizontal Diplopias|Intermittent Diplopia|Intermittent Diplopias|Monocular Diplopia|Monocular Diplopias|Polyopsia|Polyopsias|Refractive Diplopia|Refractive Diplopias|Unilateral Diplopia|Unilateral Diplopias|Vertical Diplopia|Vertical Diplopias|Vision, Double
C535407|613163||Gamma aminobutyric acid transaminase deficiency|4 alpha aminobutyrate transaminase deficiency|Gaba-Transaminase Deficiency|GABA transaminase deficiency|Gamma aminobutyrate transaminase deficiency
C536465|600193||Waardenburg syndrome type 2B|Waardenburg Syndrome, Type 2B|Waardenburg Syndrome, Type IIB|WS2B
C566765||Long Qt Syndrome 2/5
C565436||Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome|Fatco Syndrome
C566767||Postaxial Oligodactyly, Tetramelic
D017495||Hyperpigmentation|Hypermelanoses|Hypermelanosis
C564100||Metacarpal 4 5 Fusion
C565437||Limb Deficiencies, Distal, with Micrognathia|Split-Hand Foot Malformation 3
C566768||Porphyria Cutanea Tarda, Type I|PCT, Sporadic Type|PCT, Type I
D017496||Hypopigmentation|Hypomelanoses|Hypomelanosis
C565430||Lymphoid System Deterioration, Progressive
C565431||Lymphoblastic Transformation, Intrinsic Defect in
C566762||Sacral Agenesis Syndrome|Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And/Or Teratoma, And Anorectal Malformation
D018192|606690||Lymphangioleiomyomatosis|LAM|Lymphangioleiomyomatoses|Lymphangiomyomatoses|Lymphangiomyomatosis
C565432||Lymphedema, Congenital Recessive
C565433||Lymphoblastic Transformation, Inhibition of
C566764||Prader-Willi-Like Syndrome Associated With Chromosome 6
613000||PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL|FNEPPK|FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA|KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR
607115|D056587||Cryopyrin-Associated Periodic Syndromes|CAPS3|Chronic Infantile Neurological, Cutaneous, and Articular Syndrome|Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome|Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome|Chronic Neurologic Cutaneous and Articular Syndrome|Chronic Neurologic, Cutaneous, and Articular Syndrome|CINCA|CINCA Syndrome|Cold Induced Autoinflammatory Syndrome, Familial|Cold-Induced Autoinflammatory Syndrome, Familial|Cold Urticaria, Familial|Cold Urticarias, Familial|Cryopyrin-Associated Periodic Syndrome|CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3|Cryopyrin Associated Periodic Syndromes|Cryopyrinopathies|Cryopyrinopathy|Familial Cold Autoinflammatory Syndrome|Familial Cold Autoinflammatory Syndrome 1|Familial Cold Induced Autoinflammatory Syndrome|Familial Cold-Induced Autoinflammatory Syndrome|Familial Cold Urticaria|Familial Cold Urticarias|FCAS1|Infantile Onset Multisystem Inflammatory Disease|IOMID|IOMID Syndrome|IOMID Syndromes|Muckle Wells Syndrome|Muckle-Wells Syndrome|Multisystem Inflammatory Disease, Neonatal Onset|Multisystem Inflammatory Disease, Neonatal-Onset|Neonatal Onset Multisystem Inflammatory Disease|NOMID|Periodic Syndrome, Cryopyrin-Associated|Periodic Syndromes, Cryopyrin-Associated|Prieur Griscelli Syndrome|Prieur-Griscelli Syndrome|Prieur-Griscelli Syndromes|Syndrome, Cryopyrin-Associated Periodic|Syndrome, IOMID|Syndrome, Muckle-Wells|Syndrome, Prieur-Griscelli|Syndromes, Cryopyrin-Associated Periodic|Syndromes, IOMID|Syndromes, Prieur-Griscelli|Syndromes, UDA|Syndromes, Urticaria-Deafness-Amyloidosis|Syndrome, UDA|Syndrome, Urticaria-Deafness-Amyloidosis|UDA Syndrome|UDA Syndromes|Urticaria Deafness Amyloidosis Syndrome|Urticaria-Deafness-Amyloidosis Syndrome|Urticaria-Deafness-Amyloidosis Syndromes|Urticaria, Deafness and Amyloidosis|Urticaria, Familial Cold|Urticarias, Familial Cold
C564109||Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase
C567389|612240||Atrial Fibrillation, Familial, 7|ATFB7
C564107||Mental Retardation associated with Psoriasis
C567273|127500||Dyschromatosis Universalis Hereditaria 1|DUH1
C565438||Limb Defects, Distal Transverse, with Mental Retardation and Spasticity
C566769||Porphyria, Acute Intermittent, Nonerythroid Variant
C565439||Leukotriene C4 Synthase Deficiency|LTC4 Synthase Deficiency
C567315|612437||Epilepsy, Progressive Myoclonic, 1b|EPILEPSY, PROGRESSIVE MYOCLONIC 1B|EPM1B
D004184||Dirofilariasis|Dirofilariases|Disease, Heartworm|Heartworm Disease
D010214|245000||Papillon-Lefevre Disease|Haim Monk Syndrome|Haim-Monk Syndrome|Keratosis Palmoplantaris with Periodontopathia|Keratosis Palmoplantar Periodontopathies|Keratosis Palmoplantar Periodontopathy|Palmoplantar Periodontopathies, Keratosis|PALS|Papillon Lefevre Disease|Papillon Lefevre Syndrome|Papillon-Lefevre Syndrome|PLS
D001907||Boutonneuse Fever|Boutonneuse Fevers|Fever, Boutonneuse|Fever, Mediterranean Spotted|Fevers, Boutonneuse|Mediterranean Spotted Fever|Spotted Fever, Mediterranean
D001906||Botulism|Botulism, Foodborne|Botulism, Infant|Botulism, Infantile|Botulisms, Foodborne|Botulisms, Infant|Botulisms, Wound|Botulism, Toxico Infectious|Botulism, Toxico-Infectious|Botulism, Wound|Foodborne Botulism|Foodborne Botulisms|Infant Botulism|Infant Botulisms|Infantile Botulism|Toxico Infectious Botulism|Toxico-Infectious Botulism|Wound Botulism|Wound Botulisms
C565440||Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
D017486||Acneiform Eruptions|Acneiform Eruption|Eruption, Acneiform|Eruptions, Acneiform
D016155||Oral Fistula|Fistula, Oral|Fistulas, Oral|Oral Fistulas
D016156||Respiratory Tract Fistula|Fistula, Respiratory Tract|Fistulas, Respiratory Tract|Respiratory Tract Fistulas
C567465|300750||Spastic Paraplegia 34, X-Linked|SPG34
184900|C566112||Stiff Skin Syndrome|SSKS
611431|C548032||Legius syndrome|Neurofibromatosis Type 1-Like Syndrome|NFLS
D016157||Vascular Fistula|Fistulas, Vascular|Fistula, Vascular|Vascular Fistulas
603688||PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY|CAPB|PCBC
D018792||Encephalitis, Viral|Encephalomyelitis, Infectious, Viral|Encephalomyelitis, Viral Infectious|Infectious Encephalomyelitis, Viral|Viral Encephalitis|Viral Infectious Encephalomyelitis
C566733||Ciuffo Syndrome|Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities
C565403||Pseudoarylsulfatase A Deficiency
C565404||Mesomelic Limb Shortening and Bowing
C566961|611369||Lethal Congenital Contractural Syndrome 3|LCCS3|LETHAL CONGENITAL CONTRACTURE SYNDROME 3|Multiple Contractural Syndrome, Israeli Bedouin Type B|MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
C566735||Pubic Bone Dysplasia
312080||PELIZAEUS-MERZBACHER DISEASE|PMD LEUKODYSTROPHY, HYPOMYELINATING, 1|HLD1
C566730||Pyloric Stenosis, Infantile Hypertrophic 1|Pyloric Stenosis, Infantile|Pyloric Stenosis, Infantile Hypertrophic
607458|C537197||Sensorimotor neuropathy with ataxia, autosomal dominant|SCA18|SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT|SMNA|Spinocerebellar ataxia 18
C565400||Metaphyseal Chondrodysplasia, Kaitila Type
C566731||Pupil, Egg-Shaped
C536687|277590||Weaver syndrome|Weaver Smith syndrome|Weaver-Smith Syndrome|WEAVER-SMITH SYNDROME;WSS WEAVER-LIKE SYNDROME, INCLUDED|WVS
C565405||Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities
C564505|300491||Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
C566736||Ptosis, Strabismus, And Ectopic Pupils
C566738||Pterygium, Antecubital
C565408||Megalencephaly with Dysmyelination|Megalencephaly with Diffuse White Matter Hypodensity
C566739||Multiple Pterygium Syndrome, Autosomal Dominant|Arthrogryposis, Distal, Type 8|Pterygium Syndrome, Multiple, Autosomal Dominant
D005483||Flushing|Flushings
D016127||Heart Valve Prolapse|Heart Valve Prolapses|Prolapse, Heart Valve|Prolapses, Heart Valve|Valve Prolapse, Heart|Valve Prolapses, Heart
D011087|263300||Polycythemia Vera|Disease, Osler-Vaquez|Erythremia|Erythremias|Osler Vaquez Disease|Osler-Vaquez Disease|Polycythemia Ruba Vera|Polycythemia Rubra Vera|Polycythemia Rubra Veras|Primary Polycythemia|PRV|PV|Vera, Polycythemia Rubra|Veras, Polycythemia Rubra
600059|C564008||Retinitis Pigmentosa 13|RP13
D017453||Dermatitis, Irritant|Dermatitides, Irritant|Dermatitides, Primary Irritant|Dermatitis, Primary Irritant|Irritant Dermatitides|Irritant Dermatitides, Primary|Irritant Dermatitis|Irritant Dermatitis, Primary|Primary Irritant Dermatitides|Primary Irritant Dermatitis
D017454||Dermatitis, Photoallergic|Contact Dermatitides, Photoallergic|Contact Dermatitides, Photosensitive|Contact Dermatitis, Photoallergic|Contact Dermatitis, Photosensitive|Dermatitides, Photoallergic|Dermatitides, Photoallergic Contact|Dermatitides, Photocontact|Dermatitides, Photosensitive Contact|Dermatitis, Contact, Photoallergic|Dermatitis, Contact, Photosensitive|Dermatitis, Photoallergic Contact|Dermatitis, Photocontact|Dermatitis, Photosensitive Contact|Photoallergic Contact Dermatitides|Photoallergic Contact Dermatitis|Photoallergic Dermatitides|Photoallergic Dermatitis|Photoallergies|Photoallergy|Photocontact Dermatitides|Photocontact Dermatitis|Photosensitive Contact Dermatitides|Photosensitive Contact Dermatitis
D018784||Abdominal Abscess|Abdominal Abscesses|Abscess, Abdominal|Abscesses, Abdominal|Abscesses, Intra-Abdominal|Abscess, Intra Abdominal|Abscess, Intra-Abdominal|Intra-Abdominal Abscess|Intra-Abdominal Abscesses
C565412||Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis
C563410|600994||Deafness, Autosomal Dominant 5|DFNA5
C565413||Maple Syrup Urine Disease, Type IA|MSUD1A
C566744||Pseudoxanthoma Elasticum, Heterozygous
C565414||Maple Syrup Urine Disease, Type IB|MSUD1B
612518|C567287||Ciliary Dyskinesia, Primary, 10|CILD10
C565415||Maple Syrup Urine Disease, Type II
C565948|206900||Microphthalmia, Syndromic 3|AEG Syndrome|AEG SYNDROME OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED|Anophthalmia, Clinical, With Associated Anomalies|Anophthalmia-Esophageal-Genital Syndrome|MCOPS3|Microphthalmia And Esophageal Atresia Syndrome|Sox2 Anophthalmia Syndrome|Sox2-Related Eye Disorders|Syndromic Microphthalmia 3
607598|C564369||Lethal Congenital Contracture Syndrome 2|LCCS2|Multiple Contracture Syndrome, Israeli Bedouin Type A
C565336|605365||Breast Cancer 3|BRCA3|BRCAX
C565410||Marfanoid Mental Retardation Syndrome, Autosomal
C566741||Pterygium Colli, Isolated
D044542|151100||LEOPARD Syndrome|Cardio Cutaneous Syndrome|Cardio-Cutaneous Syndrome|Cardio-Cutaneous Syndromes|Cardiomyopathic Lentiginoses|Cardiomyopathic Lentiginoses, Progressive|Cardiomyopathic Lentiginosis|Cardiomyopathic, Lentiginosis|Cardiomyopathic Lentiginosis, Progressive|Cardiomyopathics, Lentiginosis|Lentigines Syndrome, Multiple|Lentigines Syndromes, Multiple|Lentiginoses, Cardiomyopathic|Lentiginoses, Progressive Cardiomyopathic|Lentiginosis Cardiomyopathic|Lentiginosis, Cardiomyopathic|Lentiginosis Cardiomyopathics|Lentiginosis, Progressive Cardiomyopathic|Leopard Syndrome 1|LEOPARD Syndrome, 1|Leopard Syndrome 1s|LEOPARD Syndromes|LEOPARD Syndromes, 1|Multiple Lentigines Syndrome|Multiple Lentigines Syndromes|Noonan Syndrome with Multiple Lentigines|Progressive Cardiomyopathic Lentiginoses|Progressive Cardiomyopathic Lentiginosis|Syndrome, Cardio-Cutaneous|Syndrome, LEOPARD|Syndrome, Multiple Lentigines|Syndromes, 1 LEOPARD|Syndromes, Cardio-Cutaneous|Syndromes, LEOPARD|Syndromes, Multiple Lentigines
C565411||Marfanoid Habitus with Microcephaly and Glomerulonephritis
D006527|277900||Hepatolenticular Degeneration|Cerebral Pseudoscleroses|Cerebral Pseudosclerosis|Copper Storage Disease|Degeneration, Hepatocerebral|Degeneration, Hepatolenticular|Degeneration, Neurohepatic|Degeneration, Progressive Lenticular|Degenerations, Hepatocerebral|Degenerations, Neurohepatic|Diseases, Hepato-Neurologic Wilson|Diseases, Kinnier-Wilson|Hepatic Form of Wilson Disease|Hepatocerebral Degeneration|Hepatocerebral Degenerations|HEPATOLENTICULAR DEGENERATION|Hepatolenticular Degeneration Syndrome|Hepato Neurologic Wilson Disease|Hepato-Neurologic Wilson Disease|Hepato-Neurologic Wilson Diseases|Kinnier Wilson Disease|Kinnier-Wilson Disease|Kinnier-Wilson Diseases|Lenticular Degeneration, Progressive|Neurohepatic Degeneration|Neurohepatic Degenerations|Progressive Lenticular Degeneration|Pseudoscleroses, Cerebral|Pseudosclerosis|Pseudosclerosis, Cerebral|WD|Westphal Strumpell Syndrome|Westphal-Strumpell Syndrome|Westphal-Strumpell Syndromes|Wilson Disease|Wilson Disease, Hepatic Form|Wilson Disease, Hepato-Neurologic|Wilson Diseases, Hepato-Neurologic|Wilson&apos;s Disease|Wilsons Disease|WND
C535278|608644||Primary ciliary dyskinesia, 3|CILD3|Ciliary Dyskinesia, Primary, 3|Ciliary Dyskinesia, Primary, 3, with or without Situs Inversus
D004154||Dipetalonema Infections|Dipetalonema Infection|Dipetalonemiases|Dipetalonemiasis|Infection, Dipetalonema|Infections, Dipetalonema
C566748||Pseudoglaucoma
C565418||alpha-Mannosidosis, Type II
C566467|610505||Combined Oxidative Phosphorylation Deficiency 3|Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis|COXPD3|Encephalomyopathy, Respiratory Failure, And Lactic Acidosis
255800||SCHWARTZ-JAMPEL SYNDROME, TYPE 1|SJS1 SCHWARTZ-JAMPEL SYNDROME|SJS|MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES|SCHWARTZ-JAMPEL-ABERFELD SYNDROME|SJA SYNDROME|CHONDRODYSTROPHIC MYOTONIA
D005494||Folic Acid Deficiency|Acid Deficiencies, Folic|Acid Deficiency, Folic|Deficiencies, Folic Acid|Deficiency, Folic Acid|Folic Acid Deficiencies
D005491||Focal Infection, Dental|Dental Focal Infection|Dental Focal Infections|Focal Infections, Dental|Infection, Dental Focal|Infections, Dental Focal
D005490||Focal Infection|Focal Infections|Infection, Focal|Infections, Focal
603663||MENTAL HEALTH WELLNESS 1|MHW1
D016137||Spina Bifida Cystica|Open Spina Bifida|Spina Bifida Aperta|Spina Bifida Manifesta|Spina Bifida, Open
603664||MENTAL HEALTH WELLNESS 2|MHW2
C536708|309585||Wilson-Turner X-linked mental retardation syndrome|Mental retardation, X-linked, syndromic 6|Mental retardation, X-linked, with gynecomastia and obesity|MRXS6|Wilson Turner mental retardation syndrome|WTS
D016135||Spinal Dysraphism|Bifida, Spina|Cleft Spine|Dysraphia, Spinal|Dysraphias, Spinal|Dysraphicus, Status|Dysraphism, Spinal|Dysraphisms, Spinal|Open Spine|Rachischises|Rachischisis|Schistorrhachis|Spina Bifida|Spina Bifidas|Spinal Dysraphia|Spinal Dysraphias|Spinal Dysraphisms|Status Dysraphicus
D018798||Anemia, Iron-Deficiency|Anemia, Iron Deficiency|Anemias, Iron Deficiency|Anemias, Iron-Deficiency|Iron Deficiency Anemia|Iron-Deficiency Anemia|Iron Deficiency Anemias|Iron-Deficiency Anemias
D016136||Spina Bifida Occulta|Closed Spinal Bifida|Dermal Sinus|Occult Spina Bifida|Sinus, Dermal|Spina Bifida, Occult|Spinal Bifida, Closed
C566711||Retinol-Binding Protein Deficiency|Familial Hypo-RBP
C566713||Retinopathy, Pericentral Pigmentary, Dominant
D017441||Necrobiotic Disorders|Disorder, Necrobiotic|Disorders, Necrobiotic|Necrobioses|Necrobiosis|Necrobiotic Disorder
D018771||Arthralgia|Arthralgias|Joint Pain|Joint Pains|Pain, Joint|Pains, Joint|Polyarthralgia|Polyarthralgias
D049950||Hyperparathyroidism, Primary|Hyperparathyroidisms, Primary|Primary Hyperparathyroidism|Primary Hyperparathyroidisms
C537047|300523||Allan-Herndon-Dudley syndrome|AHDS|Allan-Herndon syndrome|Mct8 (Slc16a2)-Specific Thyroid Hormone Cell Transporter Deficiency|Mental retardation and muscular atrophy|Mental Retardation, X-Linked, With Hypotonia|Monocarboxylate transporter-8 deficiency|Monocarboxylate Transporter 8 Deficiency|Monocarboxylate Transporter 8 (Mct8) Deficiency|T3 Resistance|Triiodothyronine Resistance|X-linked mental retardation with hypotonia
C566718||Retinitis Pigmentosa 20
D048629||Micronuclei, Chromosome-Defective|Chromosome Defective Micronuclei|Chromosome-Defective Micronuclei|Chromosome-Defective Micronucleus|Genotoxicant Induced Micronuclei|Genotoxicant-Induced Micronuclei|Genotoxicant-Induced Micronucleus|Micronuclei, Chromosome Defective|Micronuclei, Genotoxicant Induced|Micronuclei, Genotoxicant-Induced|Micronucleus, Chromosome Defective|Micronucleus, Chromosome-Defective|Micronucleus, Genotoxicant-Induced
D005458||Fluoride Poisoning|Fluoride Poisonings|Poisoning, Fluoride|Poisonings, Fluoride
C567935|609893||Hypothyroidism, Congenital, Nongoitrous, 3|CHNG3|Congenital Hypothyroidism, Nongoitrous, 3|RESISTANCE TO THYROTROPIN|RTSH|THYROTROPIN RESISTANCE
C566714||Osteosarcoma, Retinoblastoma-Related
612521|C567285||Diabetes Mellitus, Insulin-Dependent, 21|IDDM21
C566717||Retinal Nonattachment And Falciform Detachment
C564511|300454||Mental Retardation, X-Linked 77|MRX77
D017439||Cicatrix, Hypertrophic|Cicatrices, Hypertrophic|Hypertrophic Cicatrices|Hypertrophic Cicatrix|Hypertrophic Scar|Hypertrophic Scars|Scar, Hypertrophic|Scars, Hypertrophic
300082||COGNITIVE FUNCTION 1, SOCIAL|CGF1|SOCIAL COGNITION
D016104||Oligohydramnios
D017437||Skin and Connective Tissue Diseases
D016107||Epidermolysis Bullosa Acquisita|Acquired Epidermolysis Bullosa|Acquired Form of Epidermolysis Bullosa|Epidermolysis Bullosa, Acquired
D016103||Spinal Fractures|Fracture, Spinal|Fractures, Spinal|Spinal Fracture
C566721||Reticular Dystrophy Of Retinal Pigment Epithelium
D018781||Tension-Type Headache|Headache, Idiopathic|Headache, Psychogenic|Headaches, Idiopathic|Headaches, Psychogenic|Headaches, Stress|Headaches, Tension|Headaches, Tension-Type|Headaches, Tension-Vascular|Headache, Stress|Headache, Tension|Headache, Tension-Type|Headache, Tension-Vascular|Idiopathic Headache|Idiopathic Headaches|Psychogenic Headache|Psychogenic Headaches|Stress Headache|Stress Headaches|Tension Headache|Tension Headaches|Tension Type Headache|Tension-Type Headaches|Tension Vascular Headache|Tension-Vascular Headache|Tension-Vascular Headaches
D018783||Impotence, Vasculogenic|Arteriogenic Impotence|Impotence, Arteriogenic|Impotence, Venogenic|Leakage, Penile Venous|Penile Venous Leakage|Vasculogenic Impotence|Venogenic Impotence|Venous Leakage, Penile
C566724||Raindrop Hypopigmentation
C566720||Retinal Aplasia|Amaurosis Congenita
C566729||Pyruvate Dehydrogenase E1-Beta Deficiency
C566728||Radial Heads, Posterior Dislocation Of|Congenital Posterior Dislocation of the Radial Head
146550|C535912||Marie Unna congenital hypotrichosis|HYPOTRICHOSIS 4|Hypotrichosis, Marie Unna type|HYPOTRICHOSIS, MARIE UNNA TYPE, 1|HYPT4|Marie Unna hereditary hypotrichosis|MARIE UNNA HEREDITARY HYPOTRICHOSIS 1|MUHH1
115310||PARAGANGLIOMAS 4|CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS|PARAGANGLIOMA, FAMILIAL MALIGNANT|PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL|PGL4|PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA|PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL
D016115||Albinism, Oculocutaneous|Albinism, Tyrosinase Negative|Albinism, Tyrosinase-Negative|Albinism, Tyrosinase Positive|Albinism, Tyrosinase-Positive|Albinism, Yellow Mutant|Albinism, Yellow-Mutant|Mutant Albinisms, Yellow|Mutant Albinism, Yellow|Oculocutaneous Albinism|Tyrosinase-Negative Albinism|Tyrosinase-Positive Albinism|Yellow Mutant Albinism|Yellow-Mutant Albinism
D018778||Hantavirus Infections|Hantavirus Infection|Infections, Hantavirus
D018777||Multiple Chemical Sensitivity|Chemical Sensitivities, Multiple|Chemical Sensitivity, Multiple|Environmental Intolerance, Idiopathic|Environmental Intolerances, Idiopathic|Idiopathic Environmental Intolerance|Idiopathic Environmental Intolerances|Intolerance, Idiopathic Environmental|Intolerances, Idiopathic Environmental|Multiple Chemical Sensitivities|Multiple Chemical Sensitivity Syndrome|Sensitivities, Multiple Chemical|Sensitivity, Multiple Chemical
D016117||Albinism, Ocular|Ocular Albinism
C567674|613271||Corneal Dystrophy, Fuchs Endothelial, 7|CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD4 LOCUS|FECD7
D017449||Dermatitis, Allergic Contact|Allergic Contact Dermatitides|Allergic Contact Dermatitis|Allergic Eczematous Dermatitides|Allergic Eczematous Dermatitis|Contact Dermatitides, Allergic|Contact Dermatitis, Allergic|Dermatitides, Allergic Contact|Dermatitides, Allergic Eczematous|Dermatitis, Allergic Eczematous|Dermatitis, Contact, Allergic|Eczematous Dermatitides, Allergic|Eczematous Dermatitis, Allergic
D017443||Skin Diseases, Eczematous|Disease, Eczematous Skin|Diseases, Eczematous Skin|Disorder, Eczematous|Disorders, Eczematous|Eczematous Disorder|Eczematous Disorders|Eczematous Skin Disease|Eczematous Skin Diseases|Skin Disease, Eczematous
D017444||Skin Diseases, Papulosquamous|Disease, Papulosquamous Skin|Diseases, Papulosquamous Skin|Disorder, Papulosquamous|Disorders, Papulosquamous|Papulosquamous Disorder|Papulosquamous Disorders|Papulosquamous Skin Disease|Papulosquamous Skin Diseases|Skin Disease, Papulosquamous
D016113||Ichthyosiform Erythroderma, Congenital|Congenital Ichthyosiform Erythroderma|Congenital Ichthyosiform Erythroderma, Dry Type|Congenital Ichthyosiform Erythrodermas|Congenital Ichthyosiform Erythroderma, Wet Type|Erythroderma, Congenital Ichthyosiform|Erythrodermas, Congenital Ichthyosiform|Ichthyosiform Erythrodermas, Congenital
D017445||Skin Diseases, Vascular|Diseases, Vascular Skin|Disease, Vascular Skin|Skin Disease, Vascular|Vascular Skin Disease|Vascular Skin Diseases
D004108||Dilatation, Pathologic|Dilatation, Pathological|Dilatations, Pathologic|Dilatations, Pathological|Ectasia|Pathological Dilatation|Pathological Dilatations|Pathologic Dilatation|Pathologic Dilatations
D049970||Graves Ophthalmopathy|Congestive Ophthalmopathies|Congestive Ophthalmopathy|Dysthyroid Ophthalmopathies|Dysthyroid Ophthalmopathy|Edematous Ophthalmopathies|Edematous Ophthalmopathy|Infiltrative Ophthalmopathies|Infiltrative Ophthalmopathy|Myopathic Ophthalmopathies|Myopathic Ophthalmopathy|Ophthalmopathies, Congestive|Ophthalmopathies, Dysthyroid|Ophthalmopathies, Edematous|Ophthalmopathies, Infiltrative|Ophthalmopathies, Myopathic|Ophthalmopathies, Thyroid Associated|Ophthalmopathies, Thyroid-Associated|Ophthalmopathy, Congestive|Ophthalmopathy, Dysthyroid|Ophthalmopathy, Edematous|Ophthalmopathy, Graves|Ophthalmopathy, Infiltrative|Ophthalmopathy, Myopathic|Ophthalmopathy, Thyroid Associated|Ophthalmopathy, Thyroid-Associated|Thyroid Associated Ophthalmopathies|Thyroid-Associated Ophthalmopathies|Thyroid Associated Ophthalmopathy|Thyroid-Associated Ophthalmopathy
C536091|601462||Myasthenic syndrome, congenital, postsynaptic slow-channel|CMS2A|CMS IIa|MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC SLOW-CHANNEL|MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL|Myasthenic syndrome, congenital, type IIa|SCCMS
603471|C538053||Adult-onset citrullinemia type 2|Autosomal dominant retinoschisis|CITRIN DEFICIENCY|Citrullinemia, Type II, Adult-Onset|CTLN2|Retinoschisis autosomal dominant|Retinoschisis, Autosomal Dominant
300310|C538057||Agammaglobulinemia, X-linked, type 2|AGMX2|XLA2
D004314|190685||Down Syndrome|47,XX,+21|47,XY,+21|DCR, INCLUDED|Down&apos;s Syndrome|Downs Syndrome|DOWN SYNDROME CHROMOSOME REGION, INCLUDED|DOWN SYNDROME CRITICAL REGION, INCLUDED|Down Syndrome, Partial Trisomy 21|DSCR, INCLUDED|LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED|Mongolism|Partial Trisomy 21 Down Syndrome|Syndrome, Down|Syndrome, Down&apos;s|TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED|Trisomy 21|TRISOMY 21, INCLUDED|Trisomy 21, Meiotic Nondisjunction|Trisomy 21, Mitotic Nondisjunction|Trisomy G
C567423|612089||Hypophosphatemic Rickets And Hyperparathyroidism
C567449|611955||Prostate Cancer, Hereditary, 11|HPC11
C562746|608051||Macular Dystrophy, Retinal, 2|MCDR2
D018746||Systemic Inflammatory Response Syndrome|Inflammatory Response Syndrome, Systemic|Sepsis Syndrome|Sepsis Syndromes|Syndrome, Sepsis|Syndromes, Sepsis
C566700||Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase
C566702||Parotid Aplasia or Hypoplasia
C566708||Rhiny
C566709||Rhabdomyosarcoma, Embryonal, 2
C566703||Lacrimal Puncta, Absence of
C564590|607324||Polydactyly, Postaxial, Type A3|PAPA3|Postaxial Polydactyly, Type A3
D017436|147950||Kallmann Syndrome|Anosmic Hypogonadism|Anosmic Hypogonadisms|Anosmic Idiopathic Hypogonadotropic Hypogonadism|Autosomal Dominant Form of Kallmann Syndrome|Autosomal Recessive Form of Kallmann Syndrome|Dysplasia Olfactogenitalis of De Morsier|HH1|HH2|HH3|HH4|HH5|HH6|HHA|Hypogonadism, Anosmic|Hypogonadisms, Anosmic|HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA|Hypogonadotropic Hypogonadism and Anosmia|Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)|Hypogonadotropic Hypogonadism-Anosmia Syndrome|KAL1|KAL2|Kallmann&apos;s Syndrome|Kallmanns Syndrome|Kallmann Syndrome 1|Kallmann Syndrome 2|Kallmann Syndrome 3|Kallmann Syndrome, Type 1, X-linked|Kallmann Syndrome, Type 3, Recessive|KMS|Syndrome, Kallmann|Syndrome, Kallmann&apos;s
C565342|605309||Macrocephaly Autism Syndrome|MACROCEPHALY/AUTISM SYNDROME
300071||NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A|CSNB2|CSNB2A|CSNB, INCOMPLETE, X-LINKED|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2
D054198|613065||Precursor Cell Lymphoblastic Leukemia-Lymphoma|Acute Lymphoblastic Leukemia|Acute Lymphocytic Leukemia|Acute Lymphoid Leukemia|ALL|ALL1, INCLUDED|ALL2|ALL, Childhood|Childhood ALL|L1 Lymphocytic Leukemia|L2 Lymphocytic Leukemia|Leukemia, Acute Lymphoblastic|LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO, INCLUDED|LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 1, INCLUDED|LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2|Leukemia, Acute Lymphocytic|LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1, INCLUDED|LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2|Leukemia, Acute Lymphoid|LEUKEMIA, B-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED|Leukemia, L1 Lymphocytic|Leukemia, L2 Lymphocytic|Leukemia, Lymphoblastic|Leukemia, Lymphoblastic, Acute|Leukemia, Lymphoblastic, Acute, L1|Leukemia, Lymphoblastic, Acute, L2|Leukemia, Lymphoblastic, Acute, Philadelphia-Positive|Leukemia, Lymphocytic, Acute|Leukemia, Lymphocytic, Acute, L1|Leukemia, Lymphocytic, Acute, L2|Leukemia, Lymphoid, Acute|LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED|Lymphoblastic Leukemia|Lymphoblastic Leukemia, Acute|Lymphoblastic Leukemia, Acute, Adult|Lymphoblastic Leukemia, Acute, Childhood|Lymphoblastic Leukemia, Acute, L1|Lymphoblastic Leukemia, Acute, L2|Lymphoblastic Lymphoma|Lymphocytic Leukemia, Acute|Lymphocytic Leukemia, L1|Lymphocytic Leukemia, L2|Lymphoid Leukemia, Acute|Lymphoma, Lymphoblastic|Precursor Cell Lymphoblastic Leukemia Lymphoma
C563763|609254||Senior-Loken Syndrome 5|SLSN5
D018754||Ventricular Dysfunction|Dysfunctions, Ventricular|Dysfunction, Ventricular|Ventricular Dysfunctions
613091||SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY|ASPHYXIATING THORACIC DYSTROPHY 3|ATD3|POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I|POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III|SALDINO-NOONAN SYNDROME|SHORT RIB-POLYDACTYLY SYNDROME, TYPE I|SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB|SHORT RIB-POLYDACTYLY SYNDROME, TYPE III|SRPS1|SRPS2B|SRPS3|SRTD3|VERMA-NAUMOFF SYNDROME
613092||HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2|EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE|HNFJ2
604168|C565822||Congenital Cataracts, Facial Dysmorphism, And Neuropathy|Cataract, Congenital, With Facial Dysmorphism And Neuropathy|CCFDN
613099||MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5|CMM5
D005413||Flatfoot|Feet, Flat|Flatfeet|Flat Feet|Flat Foot|Foot, Flat|Pes Planus
313350||SPLIT-HAND/FOOT MALFORMATION 2|SHFD2|SHFM2|SHSF2|SPLIT-HAND/FOOT DEFORMITY 2|SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED
214100|D015211||Zellweger Syndrome|Cerebrohepatorenal Syndrome|Cerebro Hepato Renal Syndrome|Cerebro-Hepato-Renal Syndrome|CEREBROHEPATORENAL SYNDROME;CHR PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED|CG1, INCLUDED|CGE, INCLUDED|PBD1A|PBD, ZSS|PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED|Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum|Spectrum, Zellweger|Zellweger Disease|Zellweger Like Syndrome|Zellweger-Like Syndrome|Zellweger Spectrum|Zellweger&apos;s Syndrome|Zellweger Syndrome Spectrum|ZS|ZWS
D005414||Flatulence|Flatus
D017827|109150||Machado-Joseph Disease|3, Spinocerebellar Ataxia|3s, Spinocerebellar Ataxia|Ataxia 3, Spinocerebellar|Ataxia 3s, Spinocerebellar|Atrophy III, Spinocerebellar|Atrophy IIIs, Spinocerebellar|Autosomal Dominant Striatonigral Degeneration|Azorean Ataxia|Azorean Disease|Azorean Disease (Machado Joseph)|Azorean Disease (Machado-Joseph)|Azorean Disease, Nervous System|Azorean Neurologic Disease|Degeneration, Nigrospinodentatal|Degenerations, Nigrospinodentatal|Disease, Azorean|Disease, Azorean (Machado-Joseph)|Disease, Azorean Neurologic|Disease, Joseph|Disease, Joseph Azorean|Disease, Machado-Joseph|Disease, Machado-Joseph Azorean|III, Spinocerebellar Atrophy|IIIs, Spinocerebellar Atrophy|Joseph Azorean Disease|Joseph Disease|Machado Joseph Azorean Disease|Machado-Joseph Azorean Disease|Machado Joseph Disease|Machado Joseph Disease Type I|Machado-Joseph Disease Type I|Machado Joseph Disease Type II|Machado-Joseph Disease Type II|Machado Joseph Disease Type III|Machado-Joseph Disease Type III|Machado Joseph Disease Type IV|Machado-Joseph Disease Type IV|MJD|Nervous System Azorean Disease|Neurologic Disease, Azorean|Nigrospinodentatal Degeneration|Nigrospinodentatal Degenerations|SCA3|Spinocerebellar Ataxia 3|Spinocerebellar Ataxia-3|Spinocerebellar Ataxia 3s|Spinocerebellar Ataxia Type 3|Spinocerebellar Atrophy III|Spinocerebellar Atrophy IIIs|Spinocerebellar Atrophy Type 3|SPINOPONTINE ATROPHY|Striatonigral Degeneration, Autosomal Dominant|Type 3 Spinocerebellar Ataxia|Type III Machado Joseph Disease|Type III Machado-Joseph Disease|Type II Machado Joseph Disease|Type II Machado-Joseph Disease|Type I Machado Joseph Disease|Type I Machado-Joseph Disease|Type IV Machado Joseph Disease|Type IV Machado-Joseph Disease
C565207|610265||Deafness, Autosomal Recessive 67|DFNB67
C567338|612354||Inflammatory Bowel Disease 21|IBD21
C537758|602722||Renal tubular acidosis, distal, autosomal recessive|Autosomal recessive distal renal tubular acidosis|Renal tubular acidosis, autosomal recessive with preserved hearing|Renal Tubular Acidosis, Autosomal Recessive, With Preserved Hearing|RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED|RTA, distal, autosomal recessive|RTADR
142669|C564185||Hip Dysplasia, Beukes Type|Beukes Familial Hip Dysplasia|BFHD|BHD|Osteoarthropathy, Premature Degenerative, of Hip
C562625|130060||Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant|Arthrochalasis Multiplex Congenita|EDS7A|EDS7B, INCLUDED|EDS VIIA|EDS VII, Mutant Procollagen Type|EDS VII, MUTANT PROCOLLAGEN TYPE EDS VIIB, INCLUDED|Ehlers-Danlos Syndrome, Arthrochalasia Type
610253|C563043||Kleefstra Syndrome|9q34.3 Deletion Syndrome|9q34.3 Microdeletion Syndrome|9q Subtelomeric Deletion Syndrome|9q- Syndrome|Chromosome 9q34.3 Deletion Syndrome
300049||HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT|BPNH HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED|HETEROTOPIA, FAMILIAL NODULAR|NHBP|NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR|PERIVENTRICULAR NODULAR HETEROTOPIA 1|PVNH1
C566932|611494||Atrial Fibrillation, Familial, 5|ATFB5
613085||GLAUCOMA 3, PRIMARY CONGENITAL, C|GLC3C
300510|C564499||Ovarian Dysgenesis 2|ODG2|Ovarian Dysgenesis, Hypergonadotropic, X-Linked|Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis|OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS PREMATURE OVARIAN FAILURE 4, INCLUDED|POF4, INCLUDED|Premature Ovarian Failure 4
C566593|602014||Hypomagnesemia 1, Intestinal|HOMG|HOMG1|HSH|Hypomagnesemia, Intestinal, with Secondary Hypocalcemia|Hypomagnesemia with Secondary Hypocalcemia|HYPOMAGNESEMIC TETANY
C565386|251120||Methylmalonyl-CoA Epimerase Deficiency|METHYLMALONIC ACIDURIA III, FORMERLY METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED|Methylmalonyl-CoA Racemase Deficiency
C563757|609260||Charcot-Marie-Tooth Disease, Axonal, Type 2A2|Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2|Charcot-Marie-Tooth Disease, Neuronal, Type 2A2|Charcot-Marie-Tooth Neuropathy, Type 2A2|CMT2A2|Hereditary Motor And Sensory Neuropathy IIA2|HMSN2A2|HMSNIIA2|HMSN IIA2
D001506|130650||Beckwith-Wiedemann Syndrome|Beckwith Wiedemann Syndrome|BWCR, INCLUDED|BWS|EMG Syndrome|EMG Syndromes|Exomphalos-Macroglossia-Gigantism Syndrome|Syndrome, Beckwith-Wiedemann|Syndrome, EMG|Syndromes, EMG|Syndromes, Wiedemann-Beckwith (WBS)|Syndrome, Wiedemann-Beckwith|Syndrome, Wiedemann-Beckwith (WBS)|Wiedemann Beckwith Syndrome|Wiedemann-Beckwith Syndrome|Wiedemann-Beckwith Syndromes (WBS)|Wiedemann Beckwith Syndrome (WBS)|Wiedemann-Beckwith Syndrome (WBS)|WIEDEMANN-BECKWITH SYNDROME;WBS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED
C535697|600467||Malignant hyperthermia susceptibility type 4|Malignant hyperpyrexia susceptibility type 4|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4|MHS4
D059325||Intra-Abdominal Hypertension|Abdominal Compartment Syndrome|Abdominal Compartment Syndromes|Compartment Syndrome, Abdominal|Compartment Syndromes, Abdominal|Hypertension, Intraabdominal|Hypertension, Intra-Abdominal|Hypertensions, Intraabdominal|Hypertensions, Intra-Abdominal|Intraabdominal Hypertension|Intra Abdominal Hypertension|Intraabdominal Hypertensions|Intra-Abdominal Hypertensions|Syndrome, Abdominal Compartment|Syndromes, Abdominal Compartment
C567508|611876||Brugada Syndrome 4|BRGDA4
D056889|302060||Barth Syndrome|3 Methylglutaconicaciduria Type 2|3-Methylglutaconicaciduria Type 2|3-Methylglutaconicaciduria Type 2s|3-Methylglutaconicaciduria Type II|3 Methylglutaconic Aciduria, Type II|3-Methylglutaconic Aciduria, Type II|3-Methylglutaconicaciduria Type IIs|BTHS|Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria|MGA2|MGA Type 2|MGA Type 2s|MGA Type II|MGA, TYPE II|MGA Type IIs|MGCA2|Syndrome, Barth|Type 2, 3-Methylglutaconicaciduria|Type 2, MGA|Type 2s, MGA|Type II, MGA|Type IIs, MGA
612526|C567282||Lipodystrophy, Congenital Generalized, Type 3|Berardinelli-Seip Congenital Lipodystrophy, Type 3|Bscl3|Cgl3|Lipodystrophy, Berardinelli-Seip Congenital, Type 3
609821||BLEEDING DISORDER, PLATELET-TYPE, 8|BDPLT8|BLEEDING DISORDER DUE TO P2RY12 DEFECT BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, INCLUDED
D059327||Brachydactyly|Brachydactylia|Brachydactylias|Brachydactylies|Brachydactylism|Brachydactylisms
613070||LIVER FAILURE, INFANTILE, TRANSIENT|LFIT
D000141|179800||Acidosis, Renal Tubular|Acidosis, Renal Tubular, Type I|Acidosis, Renal Tubular, Type II|Autosomal Dominant Distal Renal Tubular Acidosis|Classic Distal Renal Tubular Acidosis|Classic Type RTA|Classic Type RTAs|Distal Renal Tubular Acidosis|Gradient Type RTA|Gradient Type RTAs|Proximal Renal Tubular Acidosis|Proximal Type RTA|Proximal Type RTAs|Renal Tubular Acidosis|Renal Tubular Acidosis 1|Renal Tubular Acidosis, Distal, Autosomal Dominant|Renal Tubular Acidosis I|Renal Tubular Acidosis II|Renal Tubular Acidosis, Proximal|Renal Tubular Acidosis, Proximal, with Ocular Abnormalities|Renal Tubular Acidosis, Type I|Renal Tubular Acidosis, Type II|RTA, Classic Type|RTA, Distal Type, Autosomal Dominant|RTA, Gradient Type|RTA, Proximal Type|RTAs, Classic Type|RTAs, Gradient Type|RTAs, Proximal Type|Type II Renal Tubular Acidosis|Type I Renal Tubular Acidosis
613074||DEAFNESS, AUTOSOMAL DOMINANT 50|DFNA50
D006725||Hookworm Infections|Bunostomiases|Bunostomiasis|Hookworm Infection|Infection, Hookworm|Infections, Hookworm
D006726||Hordeolum|Stye|Styes
270600|C537481||Spastic diplegia infantile type|Hereditary spastic diplegia with mental retardation|Spastic Diplegia, Infantile Type
C565206|610282||Retinitis Pigmentosa 35|RP35
C564652|606854||Polymicrogyria, Bilateral Frontoparietal|BFPP|Cerebellar Ataxia with Neuronal Migration Defect
C536648|274600||Pendred syndrome|Autosomal Recessive Sensorineural Hearing Impairment and Goiter|Deafness with goiter|Goiter-deafness syndrome|Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B|PDS|Pendred&apos;s Syndrome|TDH2B|Thyroid Dyshormonogenesis 2B|Thyroid Hormonogenesis, Genetic Defect In, 2B
C567208|612653||Spherocytosis, Type 4|HS4|SPH4|Spherocytosis, Hereditary, 4
D018701||Mononegavirales Infections|Infection, Mononegavirales|Infections, Mononegavirales|Mononegavirales Infection
162100|D020968||Brachial Plexus Neuritis|Amyotrophic Neuralgia|Amyotrophic Neuralgias|Amyotrophies, Hereditary Neuralgic|Amyotrophies, Neuralgic|Amyotrophy, Hereditary Neuralgic|Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus|Amyotrophy, Neuralgic|Brachial Neuralgia|Brachial Neuralgias|Brachial Neuritides|Brachial Neuritis|Brachial Plexus Neuritides|Brachial Plexus Neuropathy, Hereditary|Cervicobrachial Neuralgia|Cervico Brachial Neuralgia|Cervico-Brachial Neuralgia|Cervicobrachial Neuralgias|Cervico-Brachial Neuralgias|Familial Brachial Plexus Neuritis|Girdle Neuropathies, Shoulder|Girdle Neuropathy, Shoulder|Hereditary Brachial Plexus Neuropathy|Hereditary Neuralgic Amyotrophies|Hereditary Neuralgic Amyotrophy|Heredofamilial Neuritis with Brachial Plexus Predilection|HNA|NAPB|Neuralgia, Amyotrophic|Neuralgia, Brachial|Neuralgia, Cervicobrachial|Neuralgia, Cervico-Brachial|Neuralgias, Amyotrophic|Neuralgias, Brachial|Neuralgias, Cervicobrachial|Neuralgias, Cervico-Brachial|Neuralgic Amyotrophies|Neuralgic Amyotrophies, Hereditary|Neuralgic Amyotrophy|Neuralgic Amyotrophy, Hereditary|Neuritides, Brachial|Neuritides, Brachial Plexus|Neuritis, Brachial|Neuritis, Brachial Plexus|Neuritis With Brachial Predilection|Neuropathies, Shoulder Girdle|Neuropathies, Shoulder-Girdle|Neuropathy, Shoulder Girdle|Neuropathy, Shoulder-Girdle|Parsonage Aldren Turner Syndrome|Parsonage-Aldren-Turner Syndrome|Parsonage Turner Syndrome|Parsonage-Turner Syndrome|Shoulder Girdle Neuropathies|Shoulder-Girdle Neuropathies|Shoulder Girdle Neuropathy|Shoulder-Girdle Neuropathy|Syndrome, Parsonage-Aldren-Turner|Syndrome, Parsonage-Turner
D018702||Filoviridae Infections|Filoviridae Infection|Infection, Filoviridae|Infections, Filoviridae
609813||SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE|SCDO3
D005409||Flail Chest|Chest, Flail|Chest, Stove-in|Stove in Chest|Stove-in Chest
D005402||Fistula|Fistulas
D006734||Horse Diseases|Disease, Equine|Disease, Horse|Diseases, Equine|Diseases, Horse|Equine Disease|Equine Diseases|Horse Disease
D005401||Fissure in Ano|Anal Fissure|Anal Ulcer|Anal Ulcers|Fissure, Anal|Ulcer, Anal|Ulcers, Anal
D006732||Horner Syndrome|Acquired Horner Syndrome|Bernard&apos;s Syndrome|Bernards Syndrome|Bernard Syndrome|Bernard Syndromes|Central Horner Syndrome|Claude Bernard Horner Syndrome|Claude Bernard-Horner Syndrome|Horner&apos;s Syndrome|Horners Syndrome|Horner&apos;s Syndrome, Pupil|Horners Syndrome, Pupil|Horner Syndrome, Acquired|Horner Syndrome, Central|Horner Syndrome, Pupil|Miosis, Innervational Defect|Ocular Ophthalmoplegias, Sympathetic|Ocular-Ophthalmoplegias, Sympathetic|Ocular Ophthalmoplegia, Sympathetic|Ocular-Ophthalmoplegia, Sympathetic|Oculosympathetic Syndrome|Oculosympathetic Syndromes|Ophthalmoplegias, Sympathetic Ocular|Ophthalmoplegia, Sympathetic Ocular|Ptosis Sympathetic|Pupil Horner&apos;s Syndrome|Sympathetic Ocular Ophthalmoplegia|Sympathetic Ocular-Ophthalmoplegia|Sympathetic Ocular Ophthalmoplegias|Sympathetic Ocular-Ophthalmoplegias|Syndrome, Acquired Horner|Syndrome, Bernard|Syndrome, Bernard&apos;s|Syndrome, Central Horner|Syndrome, Claude Bernard-Horner|Syndrome, Horner|Syndrome, Horner&apos;s|Syndrome, Oculosympathetic|Syndrome, Pupil Horner&apos;s|Syndromes, Bernard|Syndromes, Oculosympathetic
D059350||Chronic Pain|Chronic Pains|Chronic Pains, Widespread|Chronic Pain, Widespread|Pain, Chronic|Pains, Chronic|Pains, Widespread Chronic|Pain, Widespread Chronic|Widespread Chronic Pain|Widespread Chronic Pains
D059345||Cerebral Small Vessel Diseases|Cerebral Microangiopathies|Cerebral Microangiopathy|Cerebral Small Vessel Disease|Microangiopathies, Cerebral|Microangiopathy, Cerebral
D059348||Peripheral Nerve Injuries|Injuries, Peripheral Nerve|Injury, Peripheral Nerve|Nerve Injuries, Peripheral|Nerve Injury, Peripheral|Peripheral Nerve Injury
D059347||Cardio-Renal Syndrome|Cardiorenal Syndrome|Cardio Renal Syndrome|Cardiorenal Syndromes|Cardio-Renal Syndromes|Renocardiac Syndrome|Reno Cardiac Syndrome|Reno-Cardiac Syndrome|Renocardiac Syndromes|Reno-Cardiac Syndromes|Syndrome, Cardiorenal|Syndrome, Cardio-Renal|Syndrome, Renocardiac|Syndrome, Reno-Cardiac|Syndromes, Cardiorenal|Syndromes, Cardio-Renal|Syndromes, Renocardiac|Syndromes, Reno-Cardiac
D056728|613554||von Willebrand Disease, Type 2|Type 2A von Willebrand Disease|Type 2B von Willebrand Disease|Type 2M von Willebrand Disease|Type 2N von Willebrand Disease|Type 2 von Willebrand Disease|Type IIA von Willebrand Disease|Type IIB von Willebrand Disease|Type IIM von Willebrand Disease|Type IIN von Willebrand Disease|Type II von Willebrand Disease|von Willebrand Disease, Type 2A|von Willebrand Disease, Type 2B|VON WILLEBRAND DISEASE, TYPE 2B, INCLUDED|von Willebrand Disease, Type 2M|VON WILLEBRAND DISEASE, TYPE 2M, INCLUDED|von Willebrand Disease, Type 2N|VON WILLEBRAND DISEASE, TYPE 2N, INCLUDED|von Willebrand Disease, Type II|von Willebrand Disease, Type IIA|von Willebrand Disease, Type IIB|von Willebrand Disease, Type IIM|von Willebrand Disease, Type IIN|VWD2|VWD2A, INCLUDED|VWD2B, INCLUDED|VWD2M, INCLUDED|VWD2N, INCLUDED|VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED
209880|C536209||Congenital central hypoventilation syndrome|Autonomic Control, Congenital Failure of|CCHS|Cchs With Hirschsprung Disease|CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED|Central Hypoventilation Syndrome, Congenital|Congenital failure of autonomic control|Congenital Ondine curse|Haddad Syndrome|HADDAD SYNDROME, INCLUDED|Idiopathic congenital central alveolar hypoventilation|OHD, INCLUDED|Ondine Curse, Congenital|ONDINE CURSE, CONGENITAL ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED|Ondine-Hirschsprung Disease|Primary alveolar hypoventilation
300114||MENTAL RETARDATION, X-LINKED 49|MRX49
C537333|300263||Siderius X-linked mental retardation syndrome|Mental retardation X-linked Siderius type|Mental Retardation, X-Linked, Siderius Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, SIDERIUS TYPE|MRXSSD|Siderius Hamel syndrome|Siderius-Hamel Syndrome
C536398|605814||Neonatal-onset citrullinemia type 2|Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency|Citrullinemia, Type II, Neonatal-Onset|Neonatal intrahepatic cholestasis caused by citrin deficiency|Neonatal-onset citrullinemia type II|NICCD
C564258|608320||Coronary Artery Disease, Autosomal Dominant, 1|ADCAD1|Coronary Artery Disease With Myocardial Infarction
248510|C538599||Lysosomal beta-mannosidase deficiency|BETA-MANNOSIDASE DEFICIENCY|BETA-MANNOSIDOSIS|LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY|MANNOSIDOSIS, BETA A, LYSOSOMAL|MANSB
C536253|604416||Pyogenic arthritis, pyoderma gangrenosum, and acne|Familial recurrent arthritis|FRA|PAPAS|PAPA SYNDROME|Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne
D018804||Hantavirus Pulmonary Syndrome|Hantavirus Associated Respiratory Distress Syndrome|Hantavirus-Associated Respiratory Distress Syndrome|Hantavirus Pulmonary Syndromes|HARDS
C567372|612278||Inflammatory Bowel Disease 19|IBD19
D018805||Sepsis|Blood Poisoning|Blood Poisonings|Poisoning, Blood|Poisonings, Blood|Pyaemia|Pyaemias|Pyemia|Pyemias|Pyohemia|Pyohemias|Sepsis, Severe|Septicemia|Septicemias|Severe Sepsis
D017889|177650||Exfoliation Syndrome|Exfoliation Glaucoma|Exfoliation Syndromes|Exfoliative Syndrome|Exfoliative Syndromes|Glaucoma Capsulare|PEXG|PEXS|PSEUDOEXFOLIATION GLAUCOMA|Pseudoexfoliation Of The Lens|Pseudoexfoliation Syndrome|Pseudo Exfoliation Syndrome|Pseudo-Exfoliation Syndrome|Pseudoexfoliation Syndromes|Pseudo-Exfoliation Syndromes|Syndrome, Exfoliation|Syndrome, Exfoliative|Syndrome, Pseudoexfoliation|Syndrome, Pseudo-Exfoliation|Syndromes, Exfoliation|Syndromes, Exfoliative|Syndromes, Pseudoexfoliation|Syndromes, Pseudo-Exfoliation|XFG|XFS
C536088|146590||Ichthyosis hystrix, Curth Macklin type|Curth-Macklin type ichthyosis hystrix|Ichthyosis Hystrix, Curth-Macklin Type|IHCM
D047268||Lingual Goiter|Goiter, Lingual|Goiters, Lingual|Lingual Goiters
300125||MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2|MFTS|MGR2
D006837||Hydroa Vacciniforme
D006833||Hydrarthrosis|Hydrarthroses
D006831||Polyhydramnios|Hydramnios
D006832||Hydranencephaly|Absence of Cerebral Hemispheres, Congenital|Cerebral Hemispheres, Absence, Congenital|Congenital Absence of Cerebral Hemispheres|Hemihydranencephalies|Hemihydranencephaly|Hydranencephalies|Hydranencephaly with Proliferative Vasculopathy
C567728|613148||Inflammatory Bowel Disease 28, Autosomal Recessive|Ibd28|INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE
253290||MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE|LMPS|PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
C565312|605635||Hyperaldosteronism, Familial, Type II|FH II
C564715|300088||Epilepsy, Female-Restricted, with Mental Retardation|Convulsive Disorder and Mental Retardation|EFMR|EIEE9|EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9|JUBERG-HELLMAN SYNDROME
D059246||Tachypnea|Tachypneas
D059249||Otomycosis|Otomycoses
C563144|300046||Mental Retardation, X-Linked 23|MRX23
D029461|269920||Sialic Acid Storage Disease|Finnish Type Sialuria|Finnish Type Sialurias|French Type Sialuria|Infantile Form Sialuria|Infantile Form Sialurias|Infantile Sialic Acid Storage Disease|Infantile Sialic Acid Storage Disorder|Infantile Sialic Acid Storage Disorder (ISSD)|ISSD|N-ACETYLNEURAMINIC ACID STORAGE DISEASE|NANA STORAGE DISEASE|NSD|Salla Disease|SD|Sialic Acid Storage Disease, Finnish Type|Sialic Acid Storage Disease, Infantile Form|Sialuria|Sialuria, Finnish Type|SIALURIA, FRENCH TYPE|Sialuria, Infantile Form|Sialurias|Sialurias, Finnish Type|Sialurias, Infantile Form
D059245||Transient Tachypnea of the Newborn|Newborn Transient Tachypnea|Newborn Transient Tachypneas|Transient Tachypnea of Newborn
C566451|610069||Polyposis Syndrome, Hereditary Mixed, 2|HMPS2
C566337|603776||Hypercholesterolemia, Autosomal Dominant, 3|FH3|FH3 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED|HCHOLA3|LDLCQ1, INCLUDED
D006800||Deltaretrovirus Infections|BLV Infection|BLV Infections|Deltaretrovirus Infection|HTLV-BLV Infection|HTLV BLV Infections|HTLV-BLV Infections|HTLV Infection|HTLV Infections|Infection, Deltaretrovirus|Infections, Deltaretrovirus
C535740|602579||Congenital disorder of glycosylation type 1B|Carbohydrate-deficient glycoprotein syndrome type 1B|CDG1B|CDG, GASTROINTESTINAL TYPE|CDGIb|CDG Ib|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib|Mannosephosphate isomerase deficiency|MPI DEFICIENCY|Protein-losing enteropathy-hepatic fibrosis syndrome|Saguenay-Lac Saint-Jean syndrome|SLSJ SYNDROME
C536917|275100||Hypothyroidism, Congenital, Nongoitrous, 4|CHNG4|Congenital Nongoitrous Hypothyroidism-4|Pituitary cretinism|PITUITARY CRETINISM THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED|Thyroid-Stimulating Hormone Deficiency|Thyroid-stimulating hormone, deficiency of|Thyrotropin deficiency, isolated|Tsh Deficiency
C565876|212550||Microphthalmia, Isolated, with Cataract 2|MCOPCT2|Microphthalmia and Cataract 2|Microphthalmia, Cataract, and Nystagmus
C562889|161900||Renal Failure, Progressive, with Hypertension|AORF|Nephritis, Familial, without Deafness or Ocular Defect|Nephropathy, Familial|Renal Failure, Adult-Onset|RFH1
607155||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5|LGMD2I|MDDGC5|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
D009083||Mucopolysaccharidoses|Mucopolysaccharidosis
D009080||Mucocutaneous Lymph Node Syndrome|Kawasaki Disease|Kawasaki Syndrome|Lymph Node Syndrome, Mucocutaneous
D006819||Hyaline Membrane Disease|Disease, Hyaline Membrane|Diseases, Hyaline Membrane|Hyaline Membrane Diseases
606812|C538191||Fumaric aciduria|Fumarase deficiency|Fumarate Hydratase Deficiency|Fumaricaciduria|FUMARIC ACIDURIA
C562649|226200||Enterokinase Deficiency|Enteropeptidase Deficiency
C567388|612241||Inflammatory Bowel Disease 12|IBD12
C566946|608526||Periodontitis, Aggressive, 2
C563320|601414||Retinitis Pigmentosa 18|RP18
126200|D009103||Multiple Sclerosis|Disseminated Sclerosis|DISSEMINATED SCLEROSIS MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1, INCLUDED|MS|MS1, INCLUDED|MS2|MS3|MS4|MS (Multiple Sclerosis)|Multiple Sclerosis, Acute Fulminating|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4|Sclerosis, Disseminated|Sclerosis, Multiple
C564533|300324||Mental Retardation, X-Linked 53|MRX53
D006810||Humeral Fractures|Fracture, Humeral|Fractures, Humeral|Humeral Fracture
D059270||Petrositis|Apicitides, Petrous|Apicitis, Petrous|Gradenigo Lannois Syndrome|Gradenigo-Lannois Syndrome|Gradenigo&apos;s Syndrome|Gradenigos Syndrome|Gradenigo Syndrome|Petrositides|Petrous Apicitides|Petrous Apicitis|Syndrome, Gradenigo|Syndrome, Gradenigo-Lannois|Syndrome, Gradenigo&apos;s
D059269||Chilaiditi Syndrome|Anomaly, Chilaiditi|Anomaly, Chilaiditi&apos;s|Chilaiditi Anomaly|Chilaiditi&apos;s Anomaly|Chilaiditis Anomaly|Chilaiditi&apos;s Syndrome|Chilaiditis Syndrome|Syndrome, Chilaiditi|Syndrome, Chilaiditi&apos;s
D010004|119900||Osteoarthropathy, Primary Hypertrophic|Acropachies, Hereditary|Acropachy, Hereditary|Autosomal Dominant Pachydermoperiostoses|Autosomal Dominant Pachydermoperiostosis|Autosomal Recessive Pachydermoperiostosis|Clubbing of Digits|Cranioosteoarthropathies|Cranioosteoarthropathy|Currarino Idiopathic Osteoarthropathy|Digital Clubbing, Isolated Congenital|Familial Idiopathic Osteoarthropathy Of Childhood|Hereditary Acropachies|Hereditary Acropachy|Hypertrophic Osteoarthropathy, Idiopathic|Hypertrophic Osteoarthropathy, Primary|Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant|Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive|Idiopathic Hypertrophic Osteoarthropathy|Osteoarthropathy, Currarino Idiopathic|Osteoarthropathy, Idiopathic Hypertrophic|Pachydermoperiostoses, Autosomal Dominant|Pachydermoperiostosis|Pachydermoperiostosis, Autosomal Dominant|Pachydermoperiostosis, Autosomal Recessive|Primary Hypertrophic Osteoarthropathy|Primary Hypertrophic Osteoarthropathy, Autosomal Dominant|Recessive Pachydermoperiostosis, Autosomal|Touraine Solente Gole Syndrome|Touraine-Solente-Gole Syndrome
D059268||Atrophic Vaginitis|Atrophic Vaginitides|Vaginitides, Atrophic|Vaginitis, Atrophic
D059265||Visceral Pain|Pains, Visceral|Pain, Visceral|Visceral Pains
D059266||Bisphosphonate-Associated Osteonecrosis of the Jaw|Bisphosphonate-Associated Osteonecroses|Bisphosphonate Associated Osteonecrosis|Bisphosphonate-Associated Osteonecrosis|Bisphosphonate Associated Osteonecrosis of the Jaw|Bisphosphonate Associated Osteonecrosis of the Jaws|Bisphosphonate-Associated Osteonecrosis of the Jaws|Bisphosphonate Induced Osteonecrosis of the Jaw|Bisphosphonate-Induced Osteonecrosis of the Jaw|Bisphosphonate Induced Osteonecrosis of the Jaws|Bisphosphonate-Induced Osteonecrosis of the Jaws|Bisphosphonate Osteonecroses|Bisphosphonate Osteonecrosis|Bisphosphonate Related Osteonecrosis of the Jaw|Bisphosphonate-Related Osteonecrosis of the Jaw|Osteonecroses, Bisphosphonate|Osteonecroses, Bisphosphonate-Associated|Osteonecrosis, Bisphosphonate|Osteonecrosis, Bisphosphonate-Associated|Osteonecrosis of the Jaw, Bisphosphonate Associated|Osteonecrosis of the Jaw, Bisphosphonate-Associated|Osteonecrosis of the Jaw, Bisphosphonate Induced|Osteonecrosis of the Jaw, Bisphosphonate-Induced|Osteonecrosis of the Jaw, Bisphosphonate Related|Osteonecrosis of the Jaw, Bisphosphonate-Related|Osteonecrosis of the Jaws, Bisphosphonate Associated|Osteonecrosis of the Jaws, Bisphosphonate-Associated|Osteonecrosis of the Jaws, Bisphosphonate Induced|Osteonecrosis of the Jaws, Bisphosphonate-Induced|Osteonecrosis of the Jaws, Bisphosphonate Related|Osteonecrosis of the Jaws, Bisphosphonate-Related
D009091||Mucormycosis|Mucormycoses
C535690||Long-chain acyl-CoA dehydrogenase deficiency|Acyl-Coa Dehydrogenase, Long-Chain, Deficiency of
C565267|606012||Deafness, Autosomal Dominant 18|DFNA18
C535692||Male pseudohermaphroditism due to defective LH molecule
C535693||Male pseudohermaphroditism/mental retardation syndrome, Verloes type|Verloes syndrome
C567859|612934||Glycogen Storage Disease XIV|GSD14|GSD XIV|MOVED TO 614921|PGM1 Deficiency|Phosphoglucomutase 1 Deficiency
D010048||Ovarian Cysts|Corpus Luteum Cyst|Corpus Luteum Cysts|Cyst, Corpus Luteum|Cyst, Ovarian|Cysts, Corpus Luteum|Cysts, Ovarian|Ovarian Cyst
D009069||Movement Disorders|Dyskinesia, Lingual-Facial-Buccal|Dyskinesia, Linguofacial|Dyskinesia, Oral|Dyskinesia, Oral-facial|Dyskinesia, Orofacial|Dyskinesias, Lingual-Facial-Buccal|Dyskinesias, Linguofacial|Dyskinesias, Oral|Dyskinesias, Oral-facial|Dyskinesias, Orofacial|Dyskinesias, Tardive|Dyskinesia Syndrome|Dyskinesia Syndromes|Dyskinesia, Tardive|Dystonias, Tardive|Dystonia, Tardive|Etat Marbre|Lingual Facial Buccal Dyskinesia|Lingual-Facial-Buccal Dyskinesia|Lingual-Facial-Buccal Dyskinesias|Linguofacial Dyskinesia|Linguofacial Dyskinesias|Movement Disorder|Movement Disorder Syndrome|Movement Disorder Syndromes|Oral Dyskinesia|Oral Dyskinesias|Oral facial Dyskinesia|Oral-facial Dyskinesia|Oral-facial Dyskinesias|Orofacial Dyskinesia|Orofacial Dyskinesias|Status Marmoratus|Tardive Dyskinesia|Tardive Dyskinesias|Tardive Dystonia|Tardive Dystonias|Tardive Oral Dyskinesia|Tardive Oral Dyskinesias
D011378||Prognathism|Prognathisms
D010049||Ovarian Diseases|Disease, Ovarian|Diseases, Ovarian|Ovarian Disease
D009066||Mouth, Edentulous|Edentulous Mouth|Edentulous Mouths|Mouth, Toothless|Toothless Mouth
607134||SPECIFIC LANGUAGE IMPAIRMENT 3|SLI3|SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13
D009062||Mouth Neoplasms|Cancer, Mouth|Cancer of Mouth|Cancer of the Mouth|Cancer, Oral|Cancers, Mouth|Cancers, Oral|Mouth Cancer|Mouth Cancers|Mouth Neoplasm|Neoplasm, Mouth|Neoplasm, Oral|Neoplasms, Mouth|Neoplasms, Oral|Oral Cancer|Oral Cancers|Oral Neoplasm|Oral Neoplasms
C535688||Robin sequence and oligodactyly|Pierre Robin syndrome and oligodactyly
C483996||FOR heavy chain disease protein, human|gamma 1 heavy chain disease protein FOR, human
C483997||Wis heavy-chain disease protein, human|gamma 3 heavy-chain disease protein WIS, human|myeloma protein Wis, human|protein WIS, human
241520|C562792||Hypophosphatemic Rickets, Autosomal Recessive, 1|ARHP|ARHR|ARHR1|Hypophosphatemia, Autosomal Recessive
D011391||Prolapse|Prolapses
C483999||CHA heavy chain disease protein, human|gamma heavy chain disease protein CHA, human
C566955|611391||Cataract, Cortical, Juvenile-Onset|CATARACT 33|CATARACT 33, CORTICAL|CTRCT33
D009078||Mucocele|Mucoceles
609782||AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 2|AAA2
C536353|201475||VLCAD deficiency|Acadvl|ACADVLD|Acyl-Coa Dehydrogenase Very Long Chain Deficiency|Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of|Pearson Marrow-Pancreas Syndrome|Pearson&apos;s marrow-pancreas syndrome|Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction|Very long-chain acyl-CoA dehydrogenase deficiency|Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency|Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency|Vlcad-C|VLCAD DEFICIENCY|Vlcad-H
D009072||Moyamoya Disease|Cerebrovascular Moyamoya Disease|Classic Moyamoya Disease|Disease, Classic Moyamoya|Disease, Moya-Moya|Disease, Primary Moyamoya|Moya Moya Disease|Moya-Moya Disease|Moyamoya Disease, Classic|Moyamoya Disease, Primary|Moyamoya Disease, Secondary|Moyamoya Diseases, Primary|Moyamoya Syndrome|Primary Moyamoya Disease|Primary Moyamoya Diseases|Progressive Intracranial Occlusive Arteropathy (Moyamoya)|Secondary Moyamoya Disease
217080|C536604||Amaurosis hypertrichosis|Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis|Cone-rod congenital amaurosis associated with congenital hypertrichosis|Cone-Rod Dystrophy And Amelogenesis Imperfecta|Congenital amaurosis cone-rod type with congenital hypertrichosis|Jalili syndrome
149000|D007715||Klippel-Trenaunay-Weber Syndrome|Angioosteohypertrophy Syndrome|Angio Osteohypertrophy Syndrome|Angio-Osteohypertrophy Syndrome|Angioosteohypertrophy Syndromes|Angio-Osteohypertrophy Syndromes|Angiopathies, Congenital Dysplastic|Angiopathy, Congenital Dysplastic|Congenital Dysplastic Angiopathies|Congenital Dysplastic Angiopathy|Disease, Klippel-Trenaunay|Dysplastic Angiopathies, Congenital|Dysplastic Angiopathy, Congenital|Klippel Trenaunay Disease|Klippel-Trenaunay Disease|Klippel Trenaunay Syndrome|Klippel-Trenaunay Syndrome|Klippel-Trenaunay Syndromes|Klippel Trenaunay Weber Syndrome|Klippel Tr&#233;naunay Weber Syndrome|Klippel-Tr&#233;naunay-Weber Syndrome|KTS|KTW Syndrome|KTW Syndromes|Syndrome, Angioosteohypertrophy|Syndrome, Angio-Osteohypertrophy|Syndrome, Klippel Trenaunay|Syndrome, Klippel-Trenaunay|Syndrome, Klippel-Trenaunay-Weber|Syndrome, Klippel-Tr&#233;naunay-Weber|Syndrome, KTW|Syndromes, Angioosteohypertrophy|Syndromes, Angio-Osteohypertrophy|Syndromes, Klippel-Trenaunay|Syndromes, KTW
C536015|200600||Achondrogenesis type 1A|ACG1A|Achondrogenesis, Houston-Harris type|Achondrogenesis, Type Ia|Houston-Harris achondrogenesis
D020158|605899||Hyperglycinemia, Nonketotic|Encephalopathies, Glycine|Encephalopathy, Glycine|GCE|Glycine Encephalopathies|Glycine Encephalopathy|Hyperglycinemia, Non-ketotic|HYPERGLYCINEMIA, NONKETOTIC;NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED|Hyperglycinemia, Nonketotic, Type I|Hyperglycinemia, Nonketotic, Type II|Hyperglycinemia, Nonketotic, Type III|Hyperglycinemias, Nonketotic|Hyperglycinemias, Non-ketotic|Non ketotic Hyperglycinemia|Non-ketotic Hyperglycinemia|Nonketotic Hyperglycinemia|Non-ketotic Hyperglycinemias|Nonketotic Hyperglycinemias|Nonketotic Hyperglycinemia, Type I|Nonketotic Hyperglycinemia, Type II|Nonketotic Hyperglycinemia, Type III|TNH, INCLUDED|Type III Nonketotic Hyperglycinemia|Type II Nonketotic Hyperglycinemia|Type I Nonketotic Hyperglycinemia
C567499|611895||Amyotrophic Lateral Sclerosis 9|ALS9
D011038|268400||Rothmund-Thomson Syndrome|Congenitale, Poikiloderma|Congenitales, Poikiloderma|Congenital Poikiloderma|Poikiloderma Atrophicans and Cataract|Poikiloderma Congenitale|Poikiloderma Congenitale of Rothmund-Thomson|Poikiloderma Congenitales|Poikiloderma of Rothmund Thomson|Poikiloderma of Rothmund-Thomson|Rothmund-Thomson Poikiloderma|Rothmund-Thomson Poikilodermas|Rothmund Thomson Syndrome|RTS|Syndrome, Rothmund-Thomson
D023341||Chills
610762||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6|HDLCQ6
D010026||Osteosclerosis|Osteoscleroses
D010025||Osteoradionecrosis|Osteoradionecroses
D006938|144010||Hyperlipoproteinemia Type II|Apolipoprotein B 100, Familial Defective|Apolipoprotein B-100, Familial Defective|Apolipoprotein B 100, Familial Ligand Defective|Apolipoprotein B-100, Familial Ligand-Defective|Autosomal Dominant Hypercholesterolemia|Autosomal Dominant Hypercholesterolemias|Combined Hyperlipoproteinemia, Familial|Combined Hyperlipoproteinemias, Familial|Density Lipoproteinemia, Hyper-Low|Density Lipoproteinemias, Hyper-Low|Disorder, LDL Receptor|Disorders, LDL Receptor|Dominant Hypercholesterolemia, Autosomal|Dominant Hypercholesterolemias, Autosomal|Essential Hypercholesterolemia|Essential Hypercholesterolemias|Familial Combined Hyperlipoproteinemia|Familial Combined Hyperlipoproteinemias|Familial Hypercholesterolemia|Familial Hypercholesterolemias|Familial Hypercholesterolemic Xanthomatoses|Familial Hypercholesterolemic Xanthomatosis|Hyperbetalipoproteinemia|Hyper beta Lipoproteinemia|Hyper-beta-Lipoproteinemia|Hyperbetalipoproteinemias|Hyper-beta-Lipoproteinemias|Hypercholesterolemia, Autosomal Dominant|Hypercholesterolemia, Autosomal Dominant, Type B|Hypercholesterolemia, Essential|Hypercholesterolemia, Familial|HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B|Hypercholesterolemias, Autosomal Dominant|Hypercholesterolemias, Essential|Hypercholesterolemias, Familial|Hypercholesterolemic Xanthomatoses, Familial|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Familial Combined|Hyperlipoproteinemias, Familial Combined|Hyperlipoproteinemias, Type II|Hyperlipoproteinemias, Type IIa|Hyperlipoproteinemia Type 2|Hyperlipoproteinemia Type 2s|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia Type IIa|Hyperlipoproteinemia, Type IIa|Hyperlipoproteinemia Type IIas|Hyperlipoproteinemia Type IIb|Hyperlipoproteinemia Type IIbs|Hyperlipoproteinemia Type IIs|Hyper Low Density Lipoproteinemia|Hyper-Low Density Lipoproteinemia|Hyper-Low-Density-Lipoproteinemia|Hyper-Low Density Lipoproteinemias|Hyper-Low-Density-Lipoproteinemias|LDL Receptor Disorder|LDL Receptor Disorders|Lipoproteinemia, Hyper-Low Density|Lipoproteinemias, Hyper-Low Density|Receptor Disorder, LDL|Receptor Disorders, LDL|Type 2, Hyperlipoproteinemia|Type IIa Hyperlipoproteinemia|Type IIa Hyperlipoproteinemias|Type II Hyperlipoproteinemia|Type II Hyperlipoproteinemias|Xanthomatoses, Familial Hypercholesterolemic|Xanthomatosis, Familial Hypercholesterolemic
610761||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5|HDLCQ5
D010029||Ostertagiasis|Ostertagiases
611092|C567017||Mental Retardation, Autosomal Recessive 6|MRT6
D009041||Motion Sickness|Airsickness|Air Sickness|Carsickness|Car Sickness|Seasickness|Sea Sickness|Sickness, Air|Sickness, Car|Sickness, Motion|Sickness, Sea
D010020||Osteonecrosis|Aseptic Necrosis of Bone|Avascular Necrosis of Bone|Bone Aseptic Necrosis|Bone Avascular Necrosis|Kienbock Disease|Kienbock&apos;s Disease|Kienboeck Disease|Kienboeck&apos;s Disease|Kienboecks Disease|Necrosis, Aseptic, of Bone|Necrosis, Avascular, of Bone|Osteonecroses
D011350||Proctocolitis|Hemorrhagic Proctocolitis|Hemorrhagic Rectocolitis|Proctocolitides, Ulcerative|Proctocolitis, Hemorrhagic|Proctocolitis, Ulcerative|Proctosigmoiditis|Rectocolitides, Ulcerative|Rectocolitis|Rectocolitis, Hemorrhagic|Rectocolitis, Ulcerative|Rectosigmoiditis|Ulcerative Proctocolitides|Ulcerative Proctocolitis|Ulcerative Rectocolitides|Ulcerative Rectocolitis
608447||CAROTID INTIMAL MEDIAL THICKNESS 2|CAROTID INTIMAL MEDIAL THICKNESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12|CIMT2
214400|C535419||Charcot-Marie-Tooth disease, Type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|Charcot-Marie-Tooth Neuropathy, Type 4a|CMT4A
D010023||Osteopoikilosis|Osteopoikiloses
264700|C562688||Vitamin D Hydroxylation-Deficient Rickets, Type 1A|1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective|1-Alpha-Hydroxylase Deficiency|25-Hydroxycholecalciferol-1-Hydroxylase Deficiency|PDDR1A|PDDR IA|Pseudovitamin D-Deficiency Rickets, Type IA|VDD1|VDDR1A|Vitamin D Dependency, Type 1|Vitamin D-Dependent Rickets, Type 1A
256500|D056770||Netherton Syndrome|Disease, Netherton|ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE|NETH|Netherton Disease|NS|Syndrome, Netherton
C535306|236792||2-Hydroxyglutaricaciduria|2-Hga|2-Hydroxyglutaric Aciduria|Combined D-2- and L-2-hydroxyglutaric aciduria|D2HGA|D2HGA1|D2HGA2|D-2-hydroxyglutaric aciduria|D-2-HYDROXYGLUTARIC ACIDURIA 1|D-2-HYDROXYGLUTARIC ACIDURIA 2|L-2-Hydroxyglutaric Acidemia|L-2-hydroxyglutaric aciduria
D009059||Mouth Diseases|Disease, Mouth|Diseases, Mouth|Mouth Disease
D009058||Mouth Breathing|Breathing, Mouth|Breathings, Mouth|Mouth Breathings
D010039||Otorhinolaryngologic Neoplasms|Cancer, Otorhinolaryngeal|Cancers, Otorhinolaryngeal|Neoplasm, Ootorhinolaryngeal|Neoplasm, Otorhinolaryngologic|Neoplasm, Otorhinolaryngological|Neoplasms, Ootorhinolaryngeal|Neoplasms, Otorhinolaryngologic|Neoplasms, Otorhinolaryngological|Ootorhinolaryngeal Neoplasm|Ootorhinolaryngeal Neoplasms|Otorhinolaryngeal Cancer|Otorhinolaryngeal Cancers|Otorhinolaryngological Neoplasm|Otorhinolaryngological Neoplasms|Otorhinolaryngologic Neoplasm
D009057||Stomatognathic Diseases|Dental Disease|Dental Diseases|Disease, Dental|Diseases, Dental|Diseases, Stomatognathic|Disease, Stomatognathic|Mouth and Tooth Diseases|Stomatognathic Disease
D010038||Otorhinolaryngologic Diseases|Disease, ENT|Disease, Otolaryngologic|Disease, Otolaryngological|Disease, Otorhinolaryngologic|Disease, Otorhinolaryngological|Diseases, ENT|Diseases, Otolaryngologic|Diseases, Otolaryngological|Diseases, Otorhinolaryngologic|Diseases, Otorhinolaryngological|ENT Disease|ENT Diseases|Otolaryngological Disease|Otolaryngological Diseases|Otolaryngologic Disease|Otolaryngologic Diseases|Otorhinolaryngological Disease|Otorhinolaryngological Diseases|Otorhinolaryngologic Disease
D009056||Mouth Abnormalities|Abnormalities, Mouth|Abnormality, Mouth|Mouth Abnormality
150600|D007873||Legg-Calve-Perthes Disease|Coxa Plana|Disease, Legg-Calve-Perthes|Disease, Legg-Calv&#233;-Perthes|Disease, Legg-Perthes|Disease, Perthes|LCP|LCPD|Legg Calve Perthes Disease|Legg Calv&#233; Perthes Disease|Legg-Calv&#233;-Perthes Disease|Legg Calve Perthes Syndrome|Legg-Calve-Perthes Syndrome|Legg Calv&#233; Perthes Syndrome|Legg-Calv&#233;-Perthes Syndrome|Legg Perthes Disease|Legg-Perthes Disease|Osteochondritis Deforman|Osteochondritis Deformans|Perthes Disease|Syndrome, Legg-Calve-Perthes|Syndrome, Legg-Calv&#233;-Perthes
C536266|606190||Radiation induced meningioma|Meningioma, Radiation Induced|MENINGIOMA, RADIATION-INDUCED|MNRI
D001008|607834||Anxiety Disorders|ANXIETY|Anxiety Disorder|Anxiety Neuroses|Anxiety State, Neurotic|Anxiety States, Neurotic|Disorder, Anxiety|Disorders, Anxiety|HARM AVOIDANCE, INCLUDED|Neuroses, Anxiety|Neurotic Anxiety State|Neurotic Anxiety States|State, Neurotic Anxiety|States, Neurotic Anxiety
D009050||Fluorosis, Dental|Dental Fluoroses|Dental Fluorosis|Enamel, Mottled|Enamels, Mottled|Fluoroses, Dental|Mottled Enamel|Mottled Enamels
D010031||Otitis|Ear Inflammation|Ear Inflammations|Inflammation, Ear|Inflammations, Ear|Otitides
C535538|308500||Iris hypoplasia and glaucoma|IHG|Iris Hypoplasia with Glaucoma
D010032||Otitis Externa|External Otitides|External Otitis|Externa, Otitis|Otitides, External|Otitis, External
D010035||Otitis Media, Suppurative|Otitis Media, Purulent|Purulent Otitis Media|Suppurative Otitis Media
C564766|274400||Thyroid Dyshormonogenesis 1|Hypothyroidism, Congenital, due to Dyshormonogenesis, 1|Iodine Accumulation, Transport, or Trapping Defect|TDH1|Thyroid Hormonogenesis, Genetic Defect in, 1
D010034||Otitis Media with Effusion|Ear Effusion, Middle|Ear Effusions, Middle|Effusion, Middle Ear|Effusions, Middle Ear|Middle Ear Effusion|Middle Ear Effusions|Otitis Media, Secretory|Otitis Media, Serous|Secretory Otitis Media|Serous Otitis Media
D000686||Amyloidosis|Amyloidoses
C535650||Gastro-enteropancreatic neuroendocrine tumor
C536983||Morillo-Cucci Passarge syndrome
C565343|605293||Optic Atrophy 4|OPA4
C535652||Bellini Chiumello Rimoldi syndrome
C535651||Gastrocutaneous syndrome
C563371|601208||Diabetes Mellitus, Insulin-Dependent, 11|IDDM11|Insulin-Dependent Diabetes Mellitus 11
C535924|610448||Chilblain lupus|CHBL1|CHILBLAIN LUPUS 1
D025981||Hip Injuries|Injuries, Hip
D010005||Osteoarthropathy, Secondary Hypertrophic|Clubbed Finger|Clubbed Fingers|Disease, Marie-Bamberger|Finger, Clubbed|Fingers, Clubbed|Hypertrophic Osteoarthropathies, Secondary|Hypertrophic Osteoarthropathy, Secondary|Marie Bamberger Disease|Marie-Bamberger Disease|Osteoarthropathies, Secondary Hypertrophic|Secondary Hypertrophic Osteoarthropathies|Secondary Hypertrophic Osteoarthropathy
D010008||Osteochondritis Dissecans|Dissecans, Osteochondritis
D010007||Osteochondritis|Osteochondritides
D009021||Morphine Dependence|Abuse, Morphine|Addiction, Morphine|Dependence, Morphine|Morphine Abuse|Morphine Addiction
C536975||Tracheal agenesis|Congenital tracheal agenesis|Congenital tracheal stenosis
C535643||Gardner Morrisson Abbot syndrome|Thrombocytopenia multiple congenital anomaly
C536976||Tracheal agenesis without tracheoesophageal fistula|Type 2 tracheal agenesis
D013991||Tietze&apos;s Syndrome|Chondritides, Costal|Chondritis, Costal|Costal Chondritides|Costal Chondritis|Syndrome, Tietze&apos;s|Tietzes Syndrome|Tietze Syndrome
C535642||Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy|Gapo Syndrome|Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy|Odontotrichomelic Syndrome|Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
C536973||Total Hypotrichosis, Mari type|Alopecia Universalis Congenita, Mari type|Hypotrichosis, Autosomal Recessive|Hypotrichosis, Localized, Autosomal Recessive, 2|Hypotrichosis, Total, Mari Type|Mari type Alopecia universalis congenita
C535645||Gardner-Diamond syndrome|Autoerythrocyte sensitization|Psychogenic purpura
C536210|214700||Congenital chloride diarrhea|CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE|Chloridorrhea, congenital|Congenital chloridorrhea|Darrow-Gamble disease|DIAR1|Diarrhea 1, secretory chloride, congenital
C535644||Intestinal polyposis, osteomas, sebaceous cysts|Polyposis coli and multiple hard and soft tissue tumors
D010000||Osteitis|Bone Inflammation|Inflammation, Bone
C535647||Gas bloat syndrome|Post-fundoplication syndrome
185800|C536223||Cushing&apos;s symphalangism|Cushing Symphalangism|Hereditary absence of proximal interphalangeal joints|Hereditary Absence of the Proximal Interphalangeal Joints|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|Strasburger-Hawkins-Eldridge syndrome|SYM1|SYM1A|Symphalangism, Proximal|SYMPHALANGISM, PROXIMAL, 1A|Vessel&apos;s syndrome
C566706|613731||Retinitis Pigmentosa 4|Retinitis Pigmentosa, Rhodopsin-Related|RP4
C535646||Garret Tripp syndrome|Mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes&apos; disease of the hip
C536977||Tracheobronchopathia osteoplastica|Cartilaginous or bony projections into the tracheobronchial lumen|Tracheobronchopathia Osteochondroplastica|Tracheopathia osteoplastica
D010002||Osteitis Fibrosa Cystica|Recklinghausen Disease, Bone|Recklinghausen Disease of Bone|Recklinghausens Disease, Bone|Recklinghausen&apos;s Disease of Bone
C536978||Tranebjaerg Svejgaard syndrome|Mental retardation X-linked, Tranebjaerg type seizures and psoriasis|X-linked mental retardation associated with psoriasis
C535648||Familial primary gastric lymphoma|Gastric lymphoma|Gastric Lymphoma, Primary|Primary gastric lymphoma
C535852|610140||Heart-hand syndrome, Slovenian type
D000699||Pain Insensitivity, Congenital|Analgesia, Congenital|Channelopathy-Associated Insensitivity To Pain|Congenital Analgesia|Congenital Indifference to Pain|Congenital Insensitivity To Pain|Congenital Pain Indifference|Congenital Pain Indifferences|Congenital Pain Insensitivity|Insensitivity, Congenital Pain|Insensitivity To Pain, Congenital|Pain Indifference, Congenital
C537996|202650||Dysgnathia complex|Agnathia-holoprosencephaly|AGNATHIA-OTOCEPHALY COMPLEX|AGOTC|DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY|Holoprosencephaly-agnathia|OTOCEPHALY
C535663||Acroosteolysis dominant type
C535662||Acromicric dysplasia|Acromicric skeletal dysplasia|Geleophysic dwarfism|Geleophysic dysplasia
D000690||Amyotrophic Lateral Sclerosis|ALS (Amyotrophic Lateral Sclerosis)|Amyotrophic Lateral Sclerosis, Guam Form|Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1|Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1|Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam|Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam|Amyotrophic Lateral Sclerosis With Dementia|Charcot Disease|Dementia With Amyotrophic Lateral Sclerosis|Disease, Guam|Disease, Lou-Gehrigs|Gehrig Disease|Gehrig&apos;s Disease|Gehrigs Disease|Guam Disease|Guam Form of Amyotrophic Lateral Sclerosis|Lou Gehrig Disease|Lou Gehrig&apos;s Disease|Lou-Gehrigs Disease|Motor Neuron Disease, Amyotrophic Lateral Sclerosis|Sclerosis, Amyotrophic Lateral
C535661|602875||Acromesomelic dysplasia, Maroteaux type|AMDM|ST. HELENA DYSPLASIA, INCLUDED
C565133|604307||Cataract, Coppock-Like|CATARACT 2, MULTIPLE TYPES|CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, COPPOCK-LIKE|Cataract, Embryonic Nuclear|CCL|CTRCT2
C535540|147891||Ischiopatellar dysplasia|Coxopodopatellar Syndrome|ISCHIOPATELLAR DYSPLASIA|Scott-Taor syndrome|Small patella syndrome|SPS
D000694||Anal Gland Neoplasms|Anal Gland Neoplasm|Circumanal Gland Neoplasm|Circumanal Gland Neoplasms|Neoplasm, Anal Gland|Neoplasm, Circumanal Gland|Neoplasm, Perianal Gland|Neoplasms, Anal Gland|Neoplasms, Circumanal Gland|Neoplasms, Perianal Gland|Perianal Gland Neoplasm|Perianal Gland Neoplasms
D012678||Sensation Disorders|Sensation Disorder|Senses Disorder, Special|Senses Disorders, Special|Sensory Disorder|Sensory Disorders|Special Senses Disorder|Special Senses Disorders
D010015||Osteolysis, Essential|Bone Disease, Disappearing|Cystic Angiomatosis Of Bone, Diffuse|Disappearing Bone Disease|Essential Osteolyses|Essential Osteolysis|Gorham Disease|Gorham-Stout Disease|Idiopathic Multicentric Osteolyses|Idiopathic Multicentric Osteolysis|Massive Osteolyses|Massive Osteolysis|Multicentric Osteolyses, Idiopathic|Multicentric Osteolysis, Idiopathic|Osteolyses, Essential|Osteolyses, Idiopathic Multicentric|Osteolyses, Massive|Osteolysis, Idiopathic Multicentric|Osteolysis, Massive
D010014||Osteolysis|Osteolyses
D010017||Osteoma, Osteoid|Osteoid Osteoma|Osteoid Osteomas|Osteomas, Osteoid
D010016||Osteoma|Osteomas
D010019||Osteomyelitis|Osteomyelitides
D010018||Osteomalacia|Adult Rickets|Rickets, Adult
D011349||Proctitis|Proctitides
C535654||Rosenthal-Kloepfer syndrome|Acromegaloid changes, cutis verticis gyrata and corneal leukoma|Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
C535653||Acrokeratoelastoidosis of Costa|Collagenous plaques of hand and feet|Collagenous Plaques Of Hands And Feet|Palmoplantar keratoderma, punctate type 3
C535655||Acromegaloid facial appearance syndrome|Thick lips and oral mucosa
C535658||Acromesomelic dysplasia|Acromesomelic Dwarfism|Acromesomelic dwarfism Maroteux type|Acromesomelic dysplasia Hunter Thompson type|Acromesomelic dysplasia Hunter-Thompson type|Acromesomelic Dysplasia, Hunter-Thompson Type|St Helena dysplasia|St. Helena Dysplasia
C566984|611228||Charcot-Marie-Tooth Disease, Type 4j|Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j|CMT4J
C535657||Acromelic frontonasal dysplasia
C536988||Motor neuropathy peripheral with dysautonomia|Lisker Garcia Ramos syndrome|Motor Neuropathy, Peripheral, with Dysautonomia|Peripheral motor neuropathy associated with autonomic dysfunction
C566883|259720||Osteopetrosis, Autosomal Recessive 5|OPTB5|Osteopetrosis, Infantile Malignant 3
C536989||Mousa Al din Al Nassar syndrome|Bedouin spastic ataxia syndrome
C535659||Acromesomelic dysplasia Campailla-Martinelli type|Acromesomelic dysplasia Campailla Martinelli type|Mesomelic dwarfism Campailla-Martinelli type
D001998||Bronchopulmonary Sequestration|Bronchopulmonary Sequestrations|Pulmonary Sequestration|Pulmonary Sequestrations|Sequestration, Bronchopulmonary|Sequestration, Pulmonary|Sequestrations, Bronchopulmonary|Sequestrations, Pulmonary
D001997||Bronchopulmonary Dysplasia|Dysplasia, Bronchopulmonary
C564199||Hemifacial Hyperplasia With Strabismus|Bencze Syndrome
C535670||Accutane embryopathy|Accutane-exposed pregnancies|Isotretinoin embryopathy|Isotretinoin (RoAccutane) embryopathy
D001996||Bronchopneumonia|Bronchial Pneumonia|Bronchial Pneumonias|Bronchopneumonias|Pneumonia, Bronchial|Pneumonias, Bronchial
C564198||Hemifacial Spasm, Familial
C535338|302200||Cataract, congenital, with microcornea or slight microphthalmia|CATARACT 40|CATARACT 40 WITH OR WITHOUT MICROCORNEA|Cataract, Congenital Total|Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes|Cataract congenital X-linked|Cataract, Congenital, X-Linked|Cataract, total congenital|Cataract, total congenital with posterior sutural opacities in Heterozygotes|CCT|CTRCT40|CXN
C535672||Acute cholinergic dysautonomia
C535674||Richards-Rundle syndrome|Ataxia-deafness-retardation syndrome with ketoaciduria|Familial ataxia-hypogonadism syndrome|Ketoaciduria-mental deficiency syndrome|Ketoaciduria With Mental Deficiency And Other Features
C535673||Acute erythroleukemia|Acute erythroleukemia - M6a subtype|Acute erythroleukemia - M6b subtype|Acute myeloid leukemia FAB-M6
D001990||Bronchiolitis, Viral|Bronchiolitides, Viral|Viral Bronchiolitides|Viral Bronchiolitis
D001994||Bronchogenic Cyst|Bronchial Cyst|Bronchial Cysts|Bronchogenic Cysts|Cyst, Bronchial|Cyst, Bronchogenic|Cysts, Bronchial|Cysts, Bronchogenic
216550|C536438||Cohen syndrome|CHS1, FORMERLY|COH|COH1|Hypotonia, Obesity, and Prominent Incisors|Norio Syndrome|Obesity-Hypotonia Syndrome|Pepper syndrome|Prominent Incisors-Obesity-Hypotonia Syndrome
D025962||Septo-Optic Dysplasia|De Morsier Syndrome|Dysplasia, Septooptic|Dysplasias, Septooptic|Morsier Syndrome, De|Septooptic Dysplasia|Septooptic Dysplasias|Septo Optic Dysplasia with Growth Hormone Deficiency|Septo-Optic Dysplasia with Growth Hormone Deficiency|Syndrome, De Morsier
D001991||Bronchitis|Bronchitides
C567784|605911||3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency|HMGCS2 Deficiency|Mitochondrial HMG-CoA Synthase Deficiency
D011317||Priapism|Priapisms
D013978||Tibial Fractures|Fractures, Tibial|Fracture, Tibial|Tibial Fracture
C536997||Le Marec Bracq Picaud syndrome|Complex malformation syndrome with brachymesomelia
C536231|600884||Familial dilated cardiomyopathy|Cardiomyopathy, Dilated, 1b|Cardiomyopathy, Familial Dilated|Cardiomyopathy, Familial Dilated, 1|CMD1B|CMPD1|Dilated cardiomyopathy, familial|FDC|Hypokinetic dilated cardiomyopathy, familial
C535665||Acrorenal mandibular syndrome|Acrorenal-Mandibular Syndrome|Acro-renal-uterine-mandibular syndrome|Acrorenal-Uterine-Mandibular Syndrome|Split hand and split foot with mandibular hypoplasia|Split-Hand And Split-Foot With Mandibular Hypoplasia
C536998||Leber congenital amaurosis type 3|Amaurosis congenita of Leber, 3
C535666||Acrorenal syndrome recessive|Acrorenal syndrome autosomal recessive|Acrorenal Syndrome, Autosomal Recessive|Curran syndrome
C563898|608615||Oligodontia-Colorectal Cancer Syndrome|ODCRCS|Tooth Agenesis-Colorectal Cancer Syndrome
C535669||Actinic cheilitis|Actinic cheilosis
C535668||Adrenocorticotropic hormone deficiency
D055732||Pulmonary Aspergillosis|Aspergillose, Bronchopulmonary|Aspergilloses, Bronchopulmonary|Aspergilloses, Lung|Aspergillosis, Bronchopulmonary|Aspergillosis, Lung|Aspergillosis, Pulmonary|Bronchopulmonary Aspergillose|Bronchopulmonary Aspergilloses|Bronchopulmonary Aspergillosis|Lung Aspergillosis|Pulmonary Aspergilloses
C536999||Leber congenital amaurosis, type 4|Amaurosis congenita of Leber, 4
C563172|262600||Pituitary Hormone Deficiency, Combined, 2|Ateliotic Dwarfism With Hypogonadism|CPHD2|Hanhart Dwarfism|PANHYPOPITUITARISM|Pituitary Dwarfism III
D012640||Seizures|Auditory Seizure|Auditory Seizures|Clonic Seizure|Clonic Seizures|Convulsion|Convulsion, Non Epileptic|Convulsion, Non-Epileptic|Convulsions|Convulsions, Non-Epileptic|Convulsive Seizure|Convulsive Seizures|Focal Seizure|Focal Seizures|Generalized Seizure|Generalized Seizures|Gustatory Seizure|Gustatory Seizures|Jacksonian Seizure|Motor Seizure|Motor Seizures|Non-Epileptic Convulsion|Non-Epileptic Convulsions|Olfactory Seizure|Olfactory Seizures|Seizure|Seizure, Auditory|Seizure, Clonic|Seizure, Convulsive|Seizure, Focal|Seizure, Generalized|Seizure, Gustatory|Seizure, Jacksonian|Seizure, Motor|Seizure, Olfactory|Seizures, Auditory|Seizures, Clonic|Seizures, Convulsive|Seizure, Sensory|Seizures, Focal|Seizures, Generalized|Seizures, Gustatory|Seizures, Motor|Seizures, Olfactory|Seizure, Somatosensory|Seizures, Sensory|Seizures, Somatosensory|Seizures, Tonic|Seizures, Tonic Clonic|Seizures, Tonic-Clonic|Seizures, Vertiginous|Seizures, Vestibular|Seizures, Visual|Seizure, Tonic|Seizure, Tonic-Clonic|Seizure, Vertiginous|Seizure, Vestibular|Seizure, Visual|Sensory Seizure|Sensory Seizures|Somatosensory Seizure|Somatosensory Seizures|Tonic-Clonic Seizure|Tonic-Clonic Seizures|Tonic Seizure|Tonic Seizures|Vertiginous Seizure|Vertiginous Seizures|Vestibular Seizure|Vestibular Seizures|Visual Seizure|Visual Seizures
D013971||Thyrotoxicosis|Thyrotoxicoses
D054403||Leukemia, Prolymphocytic, B-Cell|B Cell Prolymphocytic Leukemia|B-Cell Prolymphocytic Leukemia|B-Cell Prolymphocytic Leukemias|Leukemia, B-Cell Prolymphocytic|Leukemias, B-Cell Prolymphocytic|Prolymphocytic Leukemia, B-Cell|Prolymphocytic Leukemias, B-Cell
C538333|605779||Nail dysplasia, isolated congenital|Congenital Isolated nail dysplasia|Isolated congenital nail dysplasia|NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7|NDNC7|Onychodysplasia, Isolated Congenital
C536678|309583||Snyder Robinson syndrome|Mental Retardation, X-Linked, Snyder-Robinson Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE|MRXSSR|SNYDER-ROBINSON MENTAL RETARDATION SYNDROME|Snyder-Robinson Syndrome|SRS|X-linked mental retardation Snyder - Robinson type
C535681||Familial anomalous origin of right pulmonary artery|ARPA, Familial|Right pulmonary artery, anomalous origin of, familial
C535680||Rieger syndrome 2|Axenfeld-Rieger syndrome type 2|Axenfeld-Rieger Syndrome, Type 2|Rieger syndrome type 2|Rieger Syndrome, Type 2
C535682||Right ventricle hypoplasia|Hypoplasia of the right ventricle|Isolated hypoplasia of the right ventricle|Isolated right ventricular hypoplasia|Right ventricular hypoplasia|Right Ventricular Hypoplasia, Isolated
D009008||Abnormalities, Severe Teratoid|Abnormality, Severe Teratoid|Severe Teratoid Abnormalities|Severe Teratoid Abnormality|Teratoid Abnormalities, Severe|Teratoid Abnormality, Severe
D000673||Amputation, Traumatic|Amputations, Traumatic|Traumatic Amputation|Traumatic Amputations
D009006||Monosomy|Monosomies
D013985||Tick Paralysis|Paralyses, Tick|Paralysis, Tick|Tick Paralyses
D013986||Tick Toxicoses|Toxicoses, Tick
123700||CUTIS LAXA, AUTOSOMAL DOMINANT 1|ADCL1
D009011||Monteggia&apos;s Fracture|Fracture, Monteggia&apos;s|Monteggia Fracture|Monteggias Fracture
C535676||Richieri Costa Guion-Almeida syndrome|Acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri-Costa Guion-Almeida Cohen syndrome|Richieri Costa Guion-Almeida dwarfism
C535675||Richieri Costa Da Silva syndrome|Tibial hemimelia-split hand/foot syndrome
C535677||Richieri Costa Pereira syndrome|Richieri-Costa and Pereira form of acrofacial dysostosis|Richieri-Costa-Pereira Syndrome|Robin sequence with cleft mandible and limb anomalies
D012652||Self Mutilation|Mutilation, Self
C535568|168860||Absent patella|Familial absence of the patella|Familial aplasia of the patella|Patella aplasia-hypoplasia|PTLAH
D013984||Tick Infestations|Infestations, Tick|Infestation, Tick|Tick Infestation
C535679||Axenfeld-Rieger syndrome|Anterior Chamber Cleavage Syndrome|Axenfeld Anomaly|Axenfeld-Rieger Anomaly|Axenfeld-Rieger Anomaly with or without Cardiac Defects and/or Sensorineural Hearing Loss|Axenfeld-Rieger Syndrome, Type 1|Axenfeld-Rieger Syndrome, Type 3|Axenfeld Syndrome|Iridogoniodysgenesis with somatic anomalies|Rieger syndrome|Rieger Syndrome, Type 1|Rieger Syndrome, Type 3
D013981||Tic Disorders|Childhood Tic Disorder|Childhood Tic Disorders|Chronic Motor or Vocal Tic Disorder|Motor or Vocal Tic Disorder, Chronic|Motor Tic Disorder|Motor Tic Disorders|Post Traumatic Tic Disorder|Post-Traumatic Tic Disorder|Post-Traumatic Tic Disorders|Tic Disorder|Tic Disorder, Childhood|Tic Disorder, Chronic Motor or Vocal|Tic Disorder, Motor|Tic Disorder, Post Traumatic|Tic Disorder, Post-Traumatic|Tic Disorders, Childhood|Tic Disorders, Motor|Tic Disorders, Post-Traumatic|Tic Disorders, Transient|Tic Disorders, Vocal|Tic Disorder, Transient|Tic Disorder, Vocal|Transient Tic Disorder|Transient Tic Disorders|Vocal Tic Disorder|Vocal Tic Disorders
D055744||Invasive Pulmonary Aspergillosis|Allergic Bronchopulmonary Mycoses|Allergic Bronchopulmonary Mycosis|Aspergillosis, Invasive Pulmonary|Bronchopulmonary Mycoses, Allergic|Bronchopulmonary Mycosis, Allergic|Chronic Necrotizing Pulmonary Aspergillosis|Mycoses, Allergic Bronchopulmonary|Mycosis, Allergic Bronchopulmonary|Pulmonary Aspergilloses, Invasive|Pulmonary Aspergillosis Invasive|Pulmonary Aspergillosis - Invasive|Pulmonary Aspergillosis, Invasive
C564179||Charcot-Marie-Tooth Disease, Foot Deformity of
C564178||Horner Syndrome, Congenital
607088|C564626||Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3|DHMN3|DHMN4|DSMA3|HMN3|HMN4|HMN III|HMN IV|Neuronopathy, Distal Hereditary Motor, Type III|Neuronopathy, Distal Hereditary Motor, Type IV|Neuropathy, Distal Hereditary Motor, Type IV
D000648||Amnesia, Retrograde|Amnesia, Pre Ictal|Amnesia, Pre-Ictal|Amnesias, Pre-Ictal|Amnesias, Retrograde|Memory Losses, Pre-Ictal|Memory Losses, Retrograde|Memory Loss, Pre-Ictal|Memory Loss, Retrograde|Pre-Ictal Amnesia|Pre-Ictal Amnesias|Pre Ictal Memory Loss|Pre-Ictal Memory Loss|Pre-Ictal Memory Losses|Retrograde Amnesia|Retrograde Amnesias|Retrograde Memory Loss|Retrograde Memory Losses
D000647||Amnesia|Amnesia, Dissociative|Amnesia, Global|Amnesia, Hysterical|Amnesia Memory Loss|Amnesia-Memory Loss|Amnesia-Memory Losses|Amnesias|Amnesias, Dissociative|Amnesias, Global|Amnesias, Hysterical|Amnesias, Tactile|Amnesias, Temporary|Amnesia, Tactile|Amnesia, Temporary|Amnestic State|Amnestic States|Dissociative Amnesia|Dissociative Amnesias|Global Amnesia|Global Amnesias|Hysterical Amnesia|Hysterical Amnesias|State, Amnestic|States, Amnestic|Tactile Amnesia|Tactile Amnesias|Temporary Amnesia|Temporary Amnesias
C536391|158900||Facioscapulohumeral muscular dystrophy 1a|Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles|FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES, INCLUDED|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1|Facioscapulohumeral muscular dystrophy, infantile|FMD|FSHD|FSHD1|FSHD1A|FSHMD1A|Landouzy-dejerine muscular dystrophy|LANDOUZY-DEJERINE MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED|MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1|Muscular dystrophy, facioscapulohumeral, type 1a
C536939||Uncombable hair syndrome|Cheveux incoiffables|Pili trianguli et Canaliculi|Unmanageable hair syndrome
D013955||Thyroglossal Cyst|Cysts, Thyroglossal|Cysts, Thyroglossal Duct|Cysts, Thyrolingual|Cyst, Thyroglossal|Cyst, Thyroglossal Duct|Cyst, Thyrolingual|Thyroglossal Cysts|Thyroglossal Duct Cyst|Thyroglossal Duct Cysts|Thyrolingual Cyst|Thyrolingual Cysts
D013952||Thymus Hyperplasia|Gland Hyperplasias, Thymus|Gland Hyperplasia, Thymus|Hyperplasia of Thymus Gland|Hyperplasias, Thymic|Hyperplasia, Thymic|Hyperplasia, Thymus|Thymic Hyperplasia|Thymic Hyperplasias|Thymus Gland Hyperplasia|Thymus Gland Hyperplasias
C535609||Akaba Hayasaka syndrome
C536938||Umbilical cord ulceration and intestinal atresia|Umbilical cord ulcer with intestinal atresia|Umbilical ulceration and intestinal atresia
D013953||Thymus Neoplasms|Cancer of the Thymus|Cancer of Thymus|Cancers, Thymic|Cancers, Thymus|Cancer, Thymic|Cancer, Thymus|Neoplasms, Thymic|Neoplasms, Thymus|Neoplasm, Thymic|Neoplasm, Thymus|Thymic Cancer|Thymic Cancers|Thymic Neoplasm|Thymic Neoplasms|Thymic Tumor|Thymic Tumors|Thymus Cancer|Thymus Cancers|Thymus Neoplasm|Thymus Tumor|Thymus Tumors|Tumors, Thymic|Tumors, Thymus|Tumor, Thymic|Tumor, Thymus
607644|C564361||Candidiasis, Familial, 3|CANDF3|Candidiasis, Familial Chronic Nail, With ICAM1 Deficiency|CANDN1|FCNC
D013958||Thyroid Crisis|Crisis, Thyroid|Crisis, Thyrotoxic|Storm, Thyroid|Storm, Thyrotoxic|Thyroid Storm|Thyrotoxic Crisis|Thyrotoxic Storm
D012628||Dermatitis, Seborrheic|Dermatitides, Seborrheic|Dermatitis Seborrheica|Seborrhea|Seborrheic Dermatitides|Seborrheic Dermatitis
D013959||Thyroid Diseases|Diseases, Thyroid|Disease, Thyroid|Thyroid Disease
D012625||Sebaceous Gland Diseases|Disease, Sebaceous Gland|Diseases, Sebaceous Gland|Gland Disease, Sebaceous|Gland Diseases, Sebaceous|Sebaceous Gland Disease
D012626||Sebaceous Gland Neoplasms|Neoplasm, Sebaceous Gland|Neoplasms, Sebaceous Gland|Sebaceous Gland Neoplasm
D055756||Meningeal Carcinomatosis|Carcinomatoses, Leptomeningeal|Carcinomatoses, Meningeal|Carcinomatosis, Leptomeningeal|Carcinomatosis, Meningeal|Carcinomatous Meningitides|Carcinomatous Meningitis|Leptomeningeal Carcinomatoses|Leptomeningeal Carcinomatosis|Meningeal Carcinomatoses|Meningitides, Carcinomatous|Meningitis, Carcinomatous
C536932||Uhl anomaly|Parchment right ventricle|Uhl&apos;s anomaly
D055752||Small Cell Lung Carcinoma|Carcinoma, Small Cell Lung|Oat Cell Carcinoma of Lung|Oat Cell Lung Cancer|Small Cell Cancer Of The Lung|Small Cell Lung Cancer
C536935||Ulna metaphyseal dysplasia syndrome|Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna|Metaphyseal Chondrodysplasia, Rosenberg Type|Metaphyseal chondroplasia Rosenberg type|Rosenberg Lohr syndrome
C564186||Histiocytosis, Progressive Mucinous
C535603||Drachtman Weinblatt Sitarz syndrome|Marrow hypoplasia associated with congenital neurologic anomalies
C536936||Ulnar hypoplasia lobster claw deformity of feet|Familial ulnar aplasia and lobster claw syndrome|Severe ulnar aplasia and lobster claw feet|Ulnar Hypoplasia with Lobster-Claw Deformity of Feet|van den Berghe Dequeker syndrome
C536934||Ulna hypoplasia with mental retardation|Bilateral ulnar hypoplasia and mental retardation|Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation
C564183||Histiocytic Dermatoarthritis
D001987||Bronchiectasis|Bronchiectases
C564189||Diaphragm, Complete Agenesis Of
D001986||Bronchial Spasm|Bronchial Spasms|Bronchospasm|Bronchospasms|Spasm, Bronchial|Spasms, Bronchial
C564188||Diaphragmatic Hernia 1
D001984||Bronchial Neoplasms|Bronchial Neoplasm|Neoplasm, Bronchial|Neoplasms, Bronchial
D055036|114290||Campomelic Dysplasia|Acampomelic Campomelic Dysplasia|ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED|Acampomelic Campomelic Dysplasias|ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED|Campomelic Dwarfism|Campomelic Dysplasia, Acampomelic|Campomelic Dysplasias|Campomelic Dysplasias, Acampomelic|Campomelic Syndrome|Camptomelic Dysplasia|CAMPTOMELIC DYSPLASIA, INCLUDED|Camptomelic Dysplasias|CMD1|CMPD|CMPD1|Cmpd1/Sra1|CMPD1/SRA1 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED|Dysplasia, Acampomelic Campomelic|Dysplasia, Campomelic|Dysplasia, Camptomelic|Dysplasias, Acampomelic Campomelic|Dysplasias, Campomelic|Dysplasias, Camptomelic
C536950||Teebi Shaltout syndrome|Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage|Teebi-Shaltout Syndrome
D001989||Bronchiolitis Obliterans|Bronchiolitides, Constrictive|Bronchiolitides, Exudative|Bronchiolitides, Proliferative|Bronchiolitis, Constrictive|Bronchiolitis, Exudative|Bronchiolitis, Proliferative|Constrictive Bronchiolitides|Constrictive Bronchiolitis|Exudative Bronchiolitides|Exudative Bronchiolitis|Proliferative Bronchiolitides|Proliferative Bronchiolitis
D001988||Bronchiolitis|Bronchiolitides
D000652||Amniotic Band Syndrome|Amniotic Band|Amniotic Bands|Amputation, Intrauterine|Amputations, Intrauterine|Annular Groove|Annular Grooves|Band, Amniotic|Bands, Amniotic|Constriction, Intrauterine Ring|Constrictions, Intrauterine Ring|Groove, Annular|Grooves, Annular|Intrauterine Amputation|Intrauterine Amputations|Intrauterine Ring Constriction|Intrauterine Ring Constrictions|Ring Constriction, Intrauterine|Ring Constrictions, Intrauterine|Streeter Syndrome|Syndrome, Amniotic Band|Syndrome, Streeter
D001983||Bronchial Fistula|Bronchial Fistulas|Fistula, Bronchial|Fistulas, Bronchial
D001982||Bronchial Diseases|Bronchial Disease|Disease, Bronchial|Diseases, Bronchial
C563907|608567||Sick Sinus Syndrome 1, Autosomal Recessive|Sick Sinus Syndrome, Congenital|Sinus Bradycardia Syndrome, Familial|Sinus Node Disease, Familial, Autosomal Recessive|Sinus Rhythm, Congenital Absence of|SSS1
C535618||Hairy elbows|Hypertrichosis cubiti|Hypertrichosis cubiti short stature|MacDermot Patton Williams syndrome
D013966||Thyroiditis|Thyroiditides
C535617||Al Gazali Sabrinathan Nair syndrome
D055761||Reticuloendotheliosis, Avian|Avian Reticuloendothelioses|Avian Reticuloendotheliosis|Reticuloendothelioses, Avian
C536948||Teebi Kaurah syndrome
C535934|601847||Cholestasis, progressive familial intrahepatic 2|Benign recurrent intrahepatic cholestasis 2 (BRIC2)|Cholestasis, benign recurrent intrahepatic 2|Cholestasis, Benign Recurrent Intrahepatic, 2|CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2|PFIC2|Progressive familial intrahepatic cholestasis 2
D011304||Presbycusis|Presbycuses
C536949||Teebi Naguib Al Awadi syndrome|Al Awadi Teebi Farag syndrome|Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence
D013964||Thyroid Neoplasms|Adenoma, Thyroid|Cancer of the Thyroid|Cancer of Thyroid|Cancer, Thyroid|Carcinoma, Thyroid|Neoplasms, Thyroid|Neoplasm, Thyroid|Thyroid Adenoma|Thyroid Cancer|Thyroid Carcinoma|Thyroid Neoplasm
C535619||Hairy nose tip
D013969||Thyroiditis, Suppurative|Acute Infectious Thyroiditides|Acute Infectious Thyroiditis|Acute Suppurative Thyroiditides|Acute Suppurative Thyroiditis|Infectious Thyroiditides|Infectious Thyroiditides, Acute|Infectious Thyroiditis|Infectious Thyroiditis, Acute|Suppurative Thyroiditides|Suppurative Thyroiditides, Acute|Suppurative Thyroiditis|Suppurative Thyroiditis, Acute|Thyroiditides, Acute Infectious|Thyroiditides, Acute Suppurative|Thyroiditides, Infectious|Thyroiditides, Suppurative|Thyroiditis, Acute Infectious|Thyroiditis, Acute Suppurative|Thyroiditis, Infectious
C566393|603285||Cerebral Cavernous Malformations 3|CCM3
D011305||Presbyopia|Presbyopias
D013968||Thyroiditis, Subacute|Cell Thyroiditides, Giant|Cell Thyroiditis, Giant|De Quervain Thyroiditis|Giant Cell Thyroiditides|Giant Cell Thyroiditis|Granulomatous Thyroiditides|Granulomatous Thyroiditis|Nonsuppurative Thyroiditides, Subacute|Nonsuppurative Thyroiditis, Subacute|Painful Thyroiditides, Subacute|Painful Thyroiditis, Subacute|Subacute Nonsuppurative Thyroiditides|Subacute Nonsuppurative Thyroiditis|Subacute Painful Thyroiditides|Subacute Painful Thyroiditis|Subacute Thyroiditides|Subacute Thyroiditis|Thyroiditides, Giant Cell|Thyroiditides, Granulomatous|Thyroiditides, Subacute|Thyroiditides, Subacute Nonsuppurative|Thyroiditides, Subacute Painful|Thyroiditis, De Quervain|Thyroiditis, Giant Cell|Thyroiditis, Granulomatous|Thyroiditis, Subacute Nonsuppurative|Thyroiditis, Subacute Painful
304500|C564433||Deafness, X-Linked 1|Deafness, X-Linked 2, Sensorineural Congenital|DFN2|DFNX1
C564193||Erythremia, Beta-Globin Type
611209|C535756||Congenital disorder of glycosylation, type 2G|CDG2G|CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME|CDGIIG|CDG IIG|Congenital Disorder Of Glycosylation, Type IIG
C535610||Akesson syndrome|Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation|Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome
C564192||Methemoglobinemia, Beta-Globin Type
C535611||Aksu von Stockhausen syndrome|Hereditary branchial arch defects
C536946||Taurodontism|Bull teeth|Large pulp chambers, in the molars
C564197||Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites
C536947||Taurodontism, microdontia, and dens invaginatus
C537436|139300||Aromatase deficiency|AEXS|Aromatase Activity, Increased|AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED|Aromatase Excess Syndrome|Familial gynecomastia, due to increased aromatase activity|Gynecomastia, Familial, due to Increased Aromatase Activity|Gynecomastia, Hereditary|GYNECOMASTIA, HEREDITARY, INCLUDED|Increased aromatase activity|Pseudohermaphroditism, female, due to placental aromatase deficiency
D054438||Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative|Atypical Chronic Myeloid Leukemia|Chronic Myeloid Leukemia, Atypical|Leukemia, Myelogenous, Ph1 Negative|Leukemia, Myelogenous, Ph1-Negative|Leukemia, Myeloid, Chronic, Atypical|Leukemia, Myeloid, Ph1 Negative|Leukemia, Myeloid, Ph1-Negative|Leukemia, Myeloid, Philadelphia Negative|Leukemia, Myeloid, Philadelphia-Negative|Leukemia, Ph1-Negative Myelogenous|Leukemia, Ph1-Negative Myeloid|Leukemia, Philadelphia-Negative Myeloid|Leukemias, Ph1-Negative Myelogenous|Leukemias, Ph1-Negative Myeloid|Leukemias, Philadelphia-Negative Myeloid|Myelogenous Leukemia, Ph1 Negative|Myelogenous Leukemia, Ph1-Negative|Myelogenous Leukemias, Ph1-Negative|Myeloid Leukemia, Ph1 Negative|Myeloid Leukemia, Ph1-Negative|Myeloid Leukemia, Philadelphia Negative|Myeloid Leukemia, Philadelphia-Negative|Myeloid Leukemias, Ph1-Negative|Myeloid Leukemias, Philadelphia-Negative|Ph1-Negative Myelogenous Leukemia|Ph1-Negative Myelogenous Leukemias|Ph1-Negative Myeloid Leukemia|Ph1-Negative Myeloid Leukemias|Philadelphia-Negative Myeloid Leukemia|Philadelphia-Negative Myeloid Leukemias
C535613||Al Gazali Aziz Salem syndrome
C536944||Thrombocytopenia absent ulnar syndrome
C564195||Erythremia, Alpha-Globin Type
D054437||Myelodysplastic-Myeloproliferative Diseases|Disease, Myelodysplastic-Myeloproliferative|Disease, Myeloproliferative-Myelodisplastic|Diseases, Myelodysplastic-Myeloproliferative|Diseases, Myeloproliferative-Myelodisplastic|Myelodysplastic-Myeloproliferative Disease|Myelodysplastic Myeloproliferative Diseases|Myeloproliferative-Myelodisplastic Disease|Myeloproliferative Myelodisplastic Diseases|Myeloproliferative-Myelodisplastic Diseases
C535616||Al Gazali Khidr Prem Chandran syndrome|Cherubism, optic atrophy and short stature
C536945||Taurodontia absent teeth sparse hair|Taurodontia, Absent Teeth, And Sparse Hair|Teeth, congenital absence of, with taurodontia and sparse hair
C564194||Methemoglobinemia, Alpha-Globin Type
C535615||Al Gazali Hirschsprung syndrome|Al Gazali Donnai Mueller syndrome|Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features|Hirschsprung&apos;s disease, hypoplastic nails, and dysmorphic facial features|Hirschsprung&apos;s disease, hypoplastic nails, and minor dysmorphic features
C565489||Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
C564157||Hypertaurinuric Cardiomyopathy
270685|C536644||Spastic paraplegia 17|Silver spastic paraplegia syndrome|Silver syndrome|SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT|Spastic paraplegia with amyotrophy of hands and feet|Spg17
C564156||Hyperthermia, Cutaneous, With Headaches And Nausea|Farmer Syndrome
C536960||Hapnes Boman Skeie syndrome
C564681|606674||Inflammatory Bowel Disease 6|IBD6
C565486||L-Gulonolactone Oxidase, Nonfunctional|Gulo, Nonfunctional
C564159||Hyperproglucagonemia|Glucagon, Large Molecular Weight Species Of
C535630||Hantavirosis|Hantavirus fever
D012607||Scotoma|Altitudinal Scotoma|Altitudinal Scotomas|Arcuate Scotoma|Arcuate Scotomas|Bjerrum Scotoma|Bjerrum Scotomas|Central Scotoma|Central Scotomas|Centrocecal Scotoma|Centrocecal Scotomas|Paracecal Scotoma|Paracecal Scotomas|Paracentral Scotoma|Paracentral Scotomas|Peripheral Scotoma|Peripheral Scotomas|Ring Scotoma|Ring Scotomas|Scintillating Scotoma|Scintillating Scotomas|Scotoma, Altitudinal|Scotoma, Arcuate|Scotoma, Bjerrum|Scotoma, Central|Scotoma, Centrocecal|Scotoma, Paracecal|Scotoma, Paracentral|Scotoma, Peripheral|Scotoma, Ring|Scotomas|Scotomas, Altitudinal|Scotomas, Arcuate|Scotomas, Bjerrum|Scotomas, Central|Scotomas, Centrocecal|Scotoma, Scintillating|Scotoma, Sector|Scotomas, Paracecal|Scotomas, Paracentral|Scotomas, Peripheral|Scotomas, Ring|Scotomas, Scintillating|Scotomas, Sector|Sector Scotoma|Sector Scotomas
108120||ARTHROGRYPOSIS, DISTAL, TYPE 1A|AMCD1|ARTHROGRYPOSIS, DISTAL, TYPE 1|ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I|DA1|DA1A
212750|D002446||Celiac Disease|AIS5, INCLUDED|CD|CELIAC10|CELIAC11|CELIAC12|CELIAC13|CELIAC1, INCLUDED|CELIAC2|CELIAC3|CELIAC4|CELIAC5|CELIAC6|CELIAC7|CELIAC8|CELIAC9|CELIAC DISEASE, SUSCEPTIBILITY TO, 10|CELIAC DISEASE, SUSCEPTIBILITY TO, 11|CELIAC DISEASE, SUSCEPTIBILITY TO, 12|CELIAC DISEASE, SUSCEPTIBILITY TO, 13|CELIAC DISEASE, SUSCEPTIBILITY TO, 2|CELIAC DISEASE, SUSCEPTIBILITY TO, 3|CELIAC DISEASE, SUSCEPTIBILITY TO, 4|CELIAC DISEASE, SUSCEPTIBILITY TO, 5|CELIAC DISEASE, SUSCEPTIBILITY TO, 6|CELIAC DISEASE, SUSCEPTIBILITY TO, 7|CELIAC DISEASE, SUSCEPTIBILITY TO, 8|CELIAC DISEASE, SUSCEPTIBILITY TO, 9|Celiac Sprue|Disease, Celiac|Enteropathies, Gluten|Enteropathies, Gluten-Sensitive|Enteropathy, Gluten|Enteropathy, Gluten-Sensitive|Gluten Enteropathies|Gluten Enteropathy|Gluten-Sensitive Enteropathies|Gluten Sensitive Enteropathy|Gluten-Sensitive Enteropathy|GLUTEN-SENSITIVE ENTEROPATHY;GSE CELIAC DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 10|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 11|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 12|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 2|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 5|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 6 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 7|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 8|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 9|GSES|Nontropical Sprue|Sprue|Sprue, Celiac|Sprue, Nontropical
D012608||Scrapie|Rida
D004410|127700||Dyslexia|Alexia|Alexias|Blindnesses, Word|Blindness, Word|Developmental Dyslexia|Developmental Dyslexias|Developmental Reading Disabilities|Developmental Reading Disability|Developmental Reading Disorder|Developmental Reading Disorders|Disabilities, Developmental Reading|Disability, Developmental Reading|Disorder, Developmental Reading|Disorder, Reading|Disorders, Developmental Reading|Disorders, Reading|Dyslexia, Developmental|Dyslexias|Dyslexias, Developmental|DYSLEXIA, SUSCEPTIBILITY TO, 1|DYSLEXIA, SUSCEPTIBILITY TO, 2|DYSLEXIA, SUSCEPTIBILITY TO, 3|DYSLEXIA, SUSCEPTIBILITY TO, 5|DYSLEXIA, SUSCEPTIBILITY TO, 6|DYSLEXIA, SUSCEPTIBILITY TO, 7, INCLUDED|DYSLEXIA, SUSCEPTIBILITY TO, 8|DYSLEXIA, SUSCEPTIBILITY TO, 9|DYX1|DYX2|DYX3|DYX4, INCLUDED|DYX5|DYX6|DYX7, INCLUDED|DYX8|DYX9|Reading Disabilities, Developmental|Reading Disability, Developmental|READING DISABILITY, SPECIFIC, 1 DYSLEXIA, SUSCEPTIBILITY TO, 4, INCLUDED|READING DISABILITY, SPECIFIC, 2|Reading Disorder|Reading Disorder, Developmental|Reading Disorders|Reading Disorders, Developmental|Word Blindness|WORD-BLINDNESS, CONGENITAL|Word Blindnesses
C535629||Hanhart syndrome|Oromandibular limb hypogenesis complex
C536959||Temtamy syndrome|Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|Craniofacial Dysmorphism With Ocular Coloboma, Absent Corpus Callosum, And Aortic Dilatation|Dysmorphism, corpus callosum agenesis and colobomas
D012600||Scoliosis|Scolioses
C536953||Tel Hashomer camptodactyly syndrome
C565492||Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy
C564160||Pseudohypoaldosteronism, Type IIa
D054446||Lymphoma, Primary Cutaneous Anaplastic Large Cell|Primary Cutaneous Anaplastic Large Cell Lymphoma|Primary Cutaneous CD30 positive Large T Cell Lymphoma|Primary Cutaneous CD30-positive Large T-Cell Lymphoma
C535621||Halal Setton Wang syndrome|Hidrotic ectodermal dysplasia Halal type
C536954||Telencephalic leukoencephalopathy
C535620||Hairy palms and soles|Circumscribed hairy dysembryoplasia of palms|Hairy cutaneous malformations of palms and soles|Thickened hair-bearing skin on the palms of both hands
C536951||Teebi syndrome
C565494||Hyperphosphatemia, Polyuria, and Seizures
C535623||Hall Riggs mental retardation syndrome|Hall-Riggs Mental Retardation Syndrome
C536952||Teeth noneruption of with maxillary hypoplasia and genu valgum|Teeth, Noneruption of, With Maxillary Hypoplasia and Genu Valgum
C565495||Hyperphosphatasia with Mental Retardation
C535622||Halal syndrome|Microcephaly cleft palate autosomal dominant
C536957||Temporomandibular ankylosis|Ankylosis of the temporomandibular joint (TMJ)
C564164||Hyperpigmentation of Fuldauer and Kuijpers
C535625||Hamano Tsukamoto syndrome
C536958||Temtamy preaxial brachydactyly syndrome|Preaxial brachydactyly syndrome, Temtamy type
C564163||Hyperpigmentation, Familial Progressive|Melanosis Universalis Hereditaria
C535624||Hamanishi Ueba Tsuji syndrome|Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
C536955||Telfer Sugar Jaeger syndrome|Piebald trait neurologic defects|White forelock and leukoderma with neurological impairment
C565490||Hypertrophic Neuropathy And Cataract
C564162||Pseudohypoaldosteronism, Type IIc
C536956||Temporal epilepsy, familial|Epilepsy, familial temporal lobe|Familial temporal lobe epilepsy
C564161||Pseudohypoaldosteronism, Type IIb
C535626||Hand and foot deformity with flat facies
C564168||Hyperostosis Cranialis Interna
241500|C562646||Hypophosphatasia, Infantile|HOPS|Phosphoethanolaminuria|PHOSPHOETHANOLAMINURIA HYPOPHOSPHATASIA, PERINATAL LETHAL, INCLUDED
C564165||Parathyroid Adenomatosis, Familial Cystic
C564291|608098||Heterotopia, Periventricular, associated with Chromosome 5p Anomalies|Periventricular Nodular Heterotopia 3|PVNH3
C565496||Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
C536972||Torulopsis|Neonatal Torulopsis glabrata Fungemia
C565497||Hyperopia, High
C565498||Hypermetabolism due to Defect in Mitochondria
C565499||Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
C565831|603965||Focal Segmental Glomerulosclerosis 2|FSGS2|Glomerulosclerosis, Focal Segmental, 2
C564169||Hereditary Renal Cancer Associated 1|Renal Carcinoma, Familial, Associated 1
C535640||Fried Goldberg Mundel syndrome
C565280|605844||Dermatitis, Atopic, 5|ATOD5
D012612||Scrub Typhus|Diseases, Tsutsugamushi|Disease, Tsutsugamushi|Fevers, Tsutsugamushi|Fever, Tsutsugamushi|Tsutsugamushi Disease|Tsutsugamushi Diseases|Tsutsugamushi Fever|Tsutsugamushi Fevers|Typhus, Scrub
C535639||Frias syndrome|Growth Deficiency, Facial Anomalies, And Brachydactyly
D012610||Screw Worm Infection|Infection, Screw Worm|Infections, Screw Worm|Screw Worm Infections
D013945||Thymoma|Carcinomas, Thymic|Carcinoma, Thymic|Thymic Carcinoma|Thymic Carcinomas|Thymomas
D053120||Respiratory Aspiration|Aspiration, Respiratory
D018813|171400||Multiple Endocrine Neoplasia Type 2a|MEA 2a|MEA II|MEA IIa|MEN 2|MEN2a|MEN 2a|MEN 2A Syndrome|MEN-2A Syndrome|MEN-2A Syndromes|MEN II|MEN IIa|Multiple Endocrine Neoplasia Type 2|Multiple Endocrine Neoplasia, Type IIa|Multiple Endocrine Neoplasms Type 2a|Neoplasia, Multiple Endocrine Type 2a|Neoplasms, Multiple Endocrine Type 2a|Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma|Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma|PTC SYNDROME|Sipple Syndrome|SIPPLE SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
607250|C537313||Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|SCAN1
C536964||Tollner Horst Manzke syndrome|Heptacarpo-octatarso-dactyly combined with multiple malformation
C564171||Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads
C535632||Hardikar syndrome|Cholestasis-pigmentary retinopathy-cleft palate syndrome
C564170||Hyperlipoproteinemia, Type II, and Deafness
C535631||COD (cerebroocular dysgenesis)
C535634||Harlequin syndrome|Sudden onset of unilateral flushing and sweating|Unilateral loss of facial flushing and sweating with contralateral anhidrosis
C535633||Harding ataxia|Ataxia, harding type|Cerebellar ataxia early onset with retained tendon reflex|Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes
C535636||Freiberg&apos;s disease|Freiberg-Kohler syndrome|Freiberg&apos;s infraction|Kohler&apos;s second disease|Second metatarsal osteochondrosis
C536969||Torsion dystonia with onset in infancy|Autosomal dominant torsion dystonia with onset in infancy
C535635||Harrod Doman Keele syndrome|Craniofacial digital genital anomalies|Harrod syndrome
C535638||Frenkel Russe syndrome|Retinal Telangiectasia and Hypogammaglobulinemia|Retinal telangiectasia associated with hypogammaglobulinemia
C536967||Tonoki syndrome|Short stature, brachydactyly, nail dysplasia, and mental retardation
C563250|181030||Salivary Gland Adenoma, Pleomorphic|PSA|SGPA
C564172||Hyperkeratosis-Hyperpigmentation Syndrome
C535637||Freire-Maia odontotrichomelic syndrome|Odontotrichomelic hypohidrotic dysplasia
C563167||Exostoses Of Heel
C563164||Hernia, Double Inguinal
D000724||Ancylostomiasis|Ancylostomiases
C563168||Askin Tumor
D039141|164300||Muscular Dystrophy, Oculopharyngeal|Dystrophies, Oculopharyngeal Muscular|Dystrophy, Oculopharyngeal Muscular|Muscular Dystrophies, Oculopharyngeal|MUSCULAR DYSTROPHY, OCULOPHARYNGEAL|Oculopharyngeal Dystrophy|Oculopharyngeal Muscular Dystrophies|Oculopharyngeal Muscular Dystrophy|OPMD|Progressive Muscular Dystrophy, Oculopharyngeal Type
C566403|603174||Homocysteinemia|HYPERHOMOCYSTEINEMIA
D012707||Sertoli Cell Tumor|Tumor, Sertoli Cell
D056684|153300||Yellow Nail Syndrome|Lymphedema And Yellow Nails|Nail Syndromes, Yellow|Nail Syndrome, Yellow|Syndromes, Yellow Nail|Syndrome, Yellow Nail|Yellow Nail Syndromes|YNS
D012700||Serositis|Serositides
605280|C537485||Spastic paraplegia 13, autosomal dominant|SPG13
C535926||Chitayat Meunier Hodgkinson syndrome|Robin sequence with facial and digital anomalies
C536030|604308||MASS syndrome|Mass phenotype|OCTD|Overlap connective tissue disease
C535928||Chitty Hall Baraitser syndrome|Deafness, femoral epiphyseal dysplasia, short stature and developmental delay|Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
C535927||Chitayat Moore Del Bigio syndrome
C535929||Chitty Hall Webb syndrome
103600||ALBUMIN|ALB DYSALBUMINEMIC HYPERTHYROXINEMIA, INCLUDED|HYPERTHYROXINEMIA, DYSALBUMINEMIC, INCLUDED|ANALBUMINEMIA, INCLUDED|BISALBUMINEMIA, INCLUDED
C535922||Chemke Oliver Mallek syndrome|Multiple ophthalmic anomalies and digital hypoplasia
C536479|276880||Urocanase deficiency
C535921||Cheilitis glandularis
C563171||Methemoglobin Reductase Deficiency|NADPH-Dependent Methemoglobin Reductase Deficiency|TPNH-Methemoglobin Reductase Deficiency
C535923||Chikungunya virus infection|Arbovirus A Chikungunya Type|Chikungunya|Chikungunya Fever
C563178||Aortic Valve Disease
D012719||Setariasis|Setariases
612528|C567280||Diamond-Blackfan Anemia 5|Dba5
C535937||Cholesterol pneumonia|Familiaere Cholesterin-Pneumonie
122100|D053559||Corneal Dystrophy, Juvenile Epithelial of Meesmann|Corneal Dystrophies, Meesmann|CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN|Corneal Dystrophy, Meesmann|Corneal Dystrophy, Meesmann Epithelial|Dystrophies, Meesmann Corneal|Juvenile Hereditary Epithelial Dystrophy|MECD|Meesmann Corneal Dystrophies|Meesmann Corneal Dystrophy|Meesmann Corneal Epithelial Dystrophy|Meesmann Epithelial Corneal Dystrophy
607476|C564391||Newfoundland Rod-Cone Dystrophy|NFRCD
C567453|611943||Riddle Syndrome|Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties
C535939||Chondrocalcinosis due to Apatite crystal deposition|Familial Apatite disease
C563764|609253||Febrile Convulsions, Familial, 6|Convulsions, Familial Febrile, 6|FEB6|FEBRILE SEIZURES, FAMILIAL, 6|Seizures, Familial Febrile, 6
D012713||Serum Sickness|Serum Sicknesses|Sicknesses, Serum|Sickness, Serum
C563142|300047||Mental Retardation, X-Linked 20|MRX20
C563185||Hyperhidrosis Palmaris Et Plantaris
C564527|300360||Mental Retardation, X-Linked, with Short Stature|MRSS
121820|C535477||Corneal dystrophy, epithelial basement membrane|Cogan corneal dystrophy|Corneal dystrophy, anterior basement membrane|Corneal dystrophy, Cogan type|Corneal Dystrophy, Map-Dot-Fingerprint Type|Corneal Dystrophy, Microcystic|EBMD|Map-dot-fingerprint dystrophy of cornea|Microcystic dystrophy of the cornea
D010244|211500||Bulbar Palsy, Progressive|Bulbar Palsies|Bulbar Palsies, Progressive|Bulbar Palsy|Bulbar Palsy, Progressive, Of Childhood|Bulbar Paralyses|Bulbar Paralysis|Childhood Progressive Bulbar Palsy|Fazio-Londe Disease|Fazio Londe Syndrome|Fazio-Londe Syndrome|Palsies, Bulbar|Palsies, Progressive Bulbar|Palsy, Bulbar|Palsy, Progressive Bulbar|Paralysis, Bulbar|Progressive Bulbar Palsies|Progressive Bulbar Palsy|Progressive Bulbar Palsy of Childhood|Syndrome, Fazio-Londe
C537975|610474||CATSHL syndrome|Camptodactyly, tall stature, and hearing loss syndrome|CATSHL SYNDROME
C563148||Mental Retardation, X-Linked 34
C563147||Mental Retardation, X-Linked 31
C564478||Nystagmus 5, Infantile Periodic Alternating|Nystagmus, Infantile Periodic Alternating, X-Linked
C566449|610090||Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency|Epileptic Encephalopathy, Neonatal, PNPO-Related|PNPO Deficiency|PNPO-Related Neonatal Epileptic Encephalopathy|Pyridoxal 5&apos;-Phosphate-Dependent Epilepsy|Pyridoxine-5&apos;-Phosphate Oxidase Deficiency|Seizures, Pyridoxine-Resistant, PLP-Sensitive
C535947||Devriendt syndrome
D000544|104300||Alzheimer Disease|Acute Confusional Senile Dementia|AD|AD1, INCLUDED|Alzheimer Dementia (AD)|Alzheimer Disease, Early Onset|ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY, INCLUDED|Alzheimer Disease, Late Onset|ALZHEIMER DISEASE, PROTECTION AGAINST, INCLUDED|Alzheimer Sclerosis|Alzheimer&apos;s Disease|Alzheimer&apos;s Disease, Focal Onset|Alzheimer Syndrome|Alzheimer Type Dementia|Alzheimer Type Dementia (ATD)|Alzheimer-Type Dementia (ATD)|Alzheimer Type Senile Dementia|Dementia, Alzheimer (AD)|Dementia, Alzheimer Type|Dementia, Alzheimer-Type (ATD)|Dementia, Presenile|Dementia, Primary Senile Degenerative|Dementia, Senile|Disease, Alzheimer|Disease, Alzheimer&apos;s|Early Onset Alzheimer Disease|Familial Alzheimer Disease (FAD)|Focal Onset Alzheimer&apos;s Disease|Late Onset Alzheimer Disease|Presenile Alzheimer Dementia|PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED|Presenile Dementia|Primary Senile Degenerative Dementia|Sclerosis, Alzheimer|Senile Dementia|Senile Dementia, Acute Confusional|Senile Dementia, Alzheimer Type|Syndrome, Alzheimer
C535949||Schofer Beetz Bohl syndrome
D000708||Anaplasia|Anaplasias
C536862|609195||Spastic paraplegia 26, autosomal recessive|SPG26
D000707||Anaphylaxis|Anaphylactic Reaction|Anaphylactic Reactions|Anaphylactic Shock|Reaction, Anaphylactic|Reactions, Anaphylactic|Shock, Anaphylactic
C564483||Mental Retardation, X-Linked 92
C563705|609533||Deafness, Autosomal Recessive 23|DFNB23
C563151||Mental Retardation, X-Linked 47|MRX47
C535945||Desmoplastic cerebral astrocytoma of infancy
C566303|104000||Alopecia Areata 1|AA1 ALOPECIA UNIVERSALIS, INCLUDED|AU, INCLUDED
D000711||Anaplasmataceae Infections|Anaplasmataceae Infection|Haemobartonelloses|Haemobartonellosis|Infection, Anaplasmataceae|Infections, Anaplasmataceae
C563154||Brooks-Wisniewski-Brown Syndrome
C564484||Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate|Hartsfield Syndrome
C563159||Acrorenal Syndrome
C567562|612789||Deafness, Autosomal Recessive 71|DFNB71
614230||CHROMOSOME 8q21.11 DELETION SYNDROME
D000712||Anaplasmosis|Anaplasmoses
C535958||Epidermolysis bullosa inversa dystrophica|Junctional epidermolysis bullosa inversa
C564490||Mental Retardation, X-Linked Nonsyndromic
C535950||Dianzani autoimmune lymphoproliferative syndrome|Autoimmune Lymphoproliferative Disease without Fas Mutations|Autoimmune lymphoproliferative syndrome without FAS mutations|Dianzani Autoimmune Lymphoproliferative Disease|Dianzani form of autoimmune lymphoproliferative disease
C535953||Eosinophilic pustular folliculitis|Eosinophilic folliculitis, pustular|Ofuji disease|Ofuji&apos;s disease
C535952||Eosinophilic enteropathy|Eosinophilic enteritis|Eosinophilic gastritis|Eosinophilic gastroenteritis|Eosinophilic gastroenteropathy
C563163||Stridor, Congenital
C535954||Eosinophilic synovitis|Idiopathic eosinophilic synovitis|Shulman syndrome
C567839|612961||Multiple Synostoses Syndrome 3|SYNS3
C565786||Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
C537265|604777||Lamellar ichthyosis, type 3|ARCI5|Ichthyosis congenita 3|Ichthyosis Congenita III|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5|Ichthyosis lamellar 3|Ichthyosis, Lamellar, 3|ICHTHYOSIS, LAMELLAR, 3, FORMERLY|ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE|LI3, FORMERLY|NNCI|Type 3 lamellar ichthyosis
C538165||Achromatopsia incomplete, X-linked|Incomplete achromatopsia , X-linked|X-linked achromatopsia, incomplete
C564452||Microphthalmia, Isolated, with Cataract 3|Cataract, Congenital, with Microcornea and Microphthalmia|MCOPCT3|Microphthalmia and Cataract 3
C538164||Bowen syndrome|Bowen syndrome of multiple malformations
C565782||Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
C563127||Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence|Toriello-Carey Syndrome
C565783||Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia
C538169||Acitretin embryopathy|Acitretine embryofetopathy
C563124||Spondylometaphyseal Dysplasia, X-Linked|Spondylometaphyseal Dysplasia, Richmond Type
C567212|612649||Ciliary Dyskinesia, Primary, 11|CILD11|CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS
C563129||Van Den Bosch Syndrome
C536198|225400||Ehlers-Danlos syndrome type 6|EDS6|EDS6A, FORMERLY|EDS VI|Ehlers-Danlos syndrome, kyphoscoliotic type|EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE|Ehlers-Danlos syndrome, oculoscoliotic type|Ehlers-Danlos syndrome, type 6|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos Syndrome, Type VI|Ehlers-Danlos Syndrome, Type VIA|EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY|NEVO SYNDROME
C564459||Spina Bifida, X-Linked
614227||HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3|HNFJ3
C538161||McPherson Robertson Cammarano syndrome|Dominantly inherited ptosis, strabismus and ectopic pupils
C538160||McPherson Clemens syndrome|Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease|Cleft Lip/Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease
C537314|302600||Spinocerebellar ataxia, X-linked, 2|Cerebellar ataxia with extrapyramidal involvement, early-onset|SCAX2|Spinocerebellar Ataxia, X-Linked 2
170400||HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1|HOKPP|HOKPP1|HYPOKALEMIC PERIODIC PARALYSIS
C567337|612359||Cowden-Like Syndrome|COWDEN SYNDROME 2|CWS2
D016269||Milk Hypersensitivity|Allergies, Milk|Allergy, Milk|Hypersensitivities, Milk|Hypersensitivity, Milk|Milk Allergies|Milk Allergy|Milk Hypersensitivities
241530|C562793||Hypophosphatemic Rickets with Hypercalciuria, Hereditary|HHRH|Hypercalciuric Rickets
C562901|310468||Nephrolithiasis, X-Linked Recessive, with Renal Failure|Nephrolithiasis 1|Nephrolithiasis, X-Linked Recessive, Type 1|NPHL1|Urolithiasis, X-Linked Recessive, Type 1|XRN
C565791||Acne, Adult
C565792||Microcephaly, Primary Autosomal Recessive, 4
D017118|176000||Porphyria, Acute Intermittent|Acute Intermittent Porphyria|Acute Intermittent Porphyrias|Acute Porphyria|Acute Porphyrias|AIP|Deaminase Deficiencies, Porphobilinogen|Deaminase Deficiency, Porphobilinogen|Deficiencies, Hydroxymethylbilane Synthase|Deficiencies, PBGD|Deficiencies, Porphobilinogen Deaminase|Deficiencies, UPS|Deficiencies, Uroporphyrinogen Synthase|Deficiency, Hydroxymethylbilane Synthase|Deficiency, PBGD|Deficiency, Porphobilinogen Deaminase|Deficiency, UPS|Deficiency, Uroporphyrinogen Synthase|Hydroxymethylbilane Synthase Deficiencies|Hydroxymethylbilane Synthase Deficiency|Intermittent Porphyria, Acute|Intermittent Porphyrias, Acute|PBGD Deficiencies|PBGD Deficiency|PORC, INCLUDED|Porphobilinogen Deaminase Deficiencies|Porphobilinogen Deaminase Deficiency|Porphyria, Acute|PORPHYRIA, CHESTER TYPE, INCLUDED|Porphyrias, Acute|Porphyrias, Acute Intermittent|Porphyrias, Swedish Type|Porphyria, Swedish Type|Swedish Type Porphyria|Swedish Type Porphyrias|Synthase Deficiencies, Hydroxymethylbilane|Synthase Deficiencies, Uroporphyrinogen|Synthase Deficiency, Hydroxymethylbilane|Synthase Deficiency, Uroporphyrinogen|Type Porphyrias, Swedish|Type Porphyria, Swedish|UPS Deficiencies|UPS Deficiency|UPS DEFICIENCY PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED|Uroporphyrinogen Synthase Deficiencies|Uroporphyrinogen Synthase Deficiency
D017599||Neuroectodermal Tumors|Neuroectodermal Tumor|Tumor, Neuroectodermal|Tumors, Neuroectodermal
C565797||Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
C538177||Acrocallosal syndrome, Schinzel type|Schinzel acrocallosal syndrome|Schinzel syndrome 1
C538176||Acquired pure megakaryocytic aplasia
C564463||Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
C538175||Acquired ichthyosis|Fish scale disease, acquired|Ichthyosis acquisita
C567126|611719||Combined Oxidative Phosphorylation Deficiency 5|COXPD5
C565794||Microcephaly, Primary Autosomal Recessive, 2
C538179||Acrodysostosis|Acrodysplasia|Arkless-Graham syndrome|Maroteaux-Malamut syndrome|Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome|Peripheral Dysostosis|Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
C565796||Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome
C538170||Ackerman syndrome|Glaucoma, Juvenile, With Unusual Upper Lip And Dental Roots|Juvenile glaucoma with unusual upper lip and dental roots|Molar Roots, Pyramidal, With Juvenile Glaucoma And Unusual Upper Lip|Pyramidal molars, glaucoma, abnormal upper lip
614211||DEAFNESS, AUTOSOMAL DOMINANT 33|DFNA33
151623|C538639||Sarcoma family syndrome of Li and Fraumeni|LFL, INCLUDED|LFS1|Li-Fraumeni Syndrome 1|Sarcoma, Breast, Leukemia, and Adrenal Gland (SBLA) Syndrome|SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI|SBLA SYNDROME LI-FRAUMENI-LIKE SYNDROME, INCLUDED
C563139||Mental Retardation, X-Linked 16
C538174||Acquired hypoprothrombinemia|Hypoprothrombinemia, acquired
C538173||Acquired angioedema
600060|C564007||Deafness, Autosomal Recessive 2|DFNB2|Neurosensory Nonsyndromic Recessive Deafness 2|NSRD2
C538172||Acquired amegakaryocytic thrombocytopenia
C538171||Acquired agranulocytosis|Agranulocytic Angina|Granulocytopenia, Primary|Neutropenia, Malignant
614207||HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3|HPMRS3|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21|MRT17|MRT21
614208||MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16|MRT16
C567753|613100||Glaucoma 1, Open Angle, O|Glc1o|Primary Open Angle Glaucoma-1O
C536857|312920||Spastic paraplegia 2, X-linked|SPG2|SPPX2
D058490|612965||46, XY Disorders of Sex Development|46,XY Disorders of Sex Development|46, XY DSD|46,XY DSD|46,XY DSDs|46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure|46,XY Sex Reversal 3|46,XY Sex Reversal, Partial or Complete, NR5A1-Related|Disorder of Sex Development, 46,XY|DSD, 46,XY|DSDs, 46,XY|Male Pseudohermaphroditism|Male Pseudohermaphroditisms|Pseudohermaphroditism, Male|Pseudohermaphroditisms, Male|Sex Reversal, XY, With Or Without Adrenal Failure|SRXY3
C563141||Mental Retardation, X-Linked 19
C564470||Mental Retardation, X-Linked 59
C567064|300661||Phosphoribosylpyrophosphate Synthetase Superactivity|Gout, PRPS-Related|PRPS1 SUPERACTIVITY GOUT, PRPS-RELATED, INCLUDED
C564432||Deafness, High-Frequency Sensorineural, X-Linked
C565765||Hypoglobulinemia and Absent B Cells
C538187||Acrogeria, gottron type|Acrometageria|Metageria
C565766||Hyperlipidemia, Combined, 2|FCHL2|Hyperlipidemia, Familial Combined, 2|HYPLIP2
C564430||Epidermodysplasia Verruciformis, X-Linked
C538186||Acrofrontofacionasal dysostosis syndrome|Acro fronto facio nasal dysostosis|Acrofrontofacionasal Dysostosis 1|Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly|Polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate
C565767||VDAC Deficiency
C566468|610498||Combined Oxidative Phosphorylation Deficiency 2|Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis|COXPD2
C565761||Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
C563104||Orofaciodigital Syndrome VII|OFD7|OFDS VII|Oral-Facial-Digital Syndrome, Type VII|Whelan Syndrome
C564435||Deafness-Hypogonadism Syndrome
162200|D009456||Neurofibromatosis 1|Cafe au Lait Spots with Pulmonic Stenosis|Cafe-au-Lait Spots with Pulmonic Stenosis|I, Neurofibromatosis Type|Molluscum Fibrosum|Neurofibromatoses, Peripheral|Neurofibromatoses, Type I|Neurofibromatosis I|Neurofibromatosis, Peripheral|Neurofibromatosis, Peripheral, NF1|Neurofibromatosis, Peripheral, NF 1|Neurofibromatosis, Peripheral Type|Neurofibromatosis Type 1|Neurofibromatosis, Type 1|Neurofibromatosis Type I|Neurofibromatosis, Type I|NF1|NF1 (Neurofibromatosis 1)|Peripheral Neurofibromatoses|Peripheral Neurofibromatosis|Pulmonic Stenosis with Cafe au Lait Spots|Pulmonic Stenosis with Cafe-au-Lait Spots|Recklinghausen Disease, Nerve|Recklinghausen Disease of Nerve|Recklinghausen&apos;s Disease of Nerve|Recklinghausens Disease of Nerve|Syndrome, Watson|Type 1 Neurofibromatosis|Type 1, Neurofibromatosis|Type I Neurofibromatoses|Type I, Neurofibromatosis|von Recklinghausen Disease|von Recklinghausen&apos;s Disease|von Recklinghausens Disease|Watson Syndrome
C535726|223800||Dyggve-Melchior-Clausen syndrome|DMC|Dyggve-Melchior-Clausen Disease|Dyggve-Melchior-Clausen syndrome X linked|Dyggve-Melchior-Clausen Syndrome, X-Linked|X-linked Dyggve-Melchior-Clausen syndrome
C538181||Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
C538180||Acrodysplasia scoliosis
D005599||Fractures, Ununited|Fracture, Ununited|Ununited Fracture|Ununited Fractures
C564439||Cone Dystrophy, X-Linked, 1
C564438||Cone-Rod Dystrophy, X-Linked, Type 1|CORDX1
C538185||Acrofacial dysostosis, Palagonia type|Palagonia type of acrofacial dysostosis
C565768||Alpha-Methylacyl-CoA Racemase Deficiency
D005596||Fractures, Closed|Closed Fracture|Closed Fractures|Fracture, Closed|Fracture, Occult|Fractures, Occult|Occult Fracture|Occult Fractures
C538183||Acrofacial dysostosis Rodriguez type|Acrofacial Dysostosis Syndrome Of Rodriguez|Rodriguez lethal acrofacial dysostosis syndrome
C567936|274300||Thyroid Hormone Resistance, Generalized, Autosomal Recessive|GRTH|GTHR|REFETOFF SYNDROME|THYROID HORMONE UNRESPONSIVENESS
D005598||Fractures, Spontaneous|Fracture, Pathologic|Fracture, Pathological|Fractures, Pathologic|Fractures, Pathological|Fracture, Spontaneous|Pathological Fracture|Pathological Fractures|Pathologic Fracture|Pathologic Fractures|Spontaneous Fracture|Spontaneous Fractures
C538182||Acrofacial dysostosis Catania form|Acrofacial Dysostosis, Catania Type|Opitz Mollica Sorge syndrome
D004266||DNA Virus Infections|DNA Virus Infection|Infection, DNA Virus|Infections, DNA Virus|Virus Infection, DNA|Virus Infections, DNA
D005597||Fractures, Open|Compound Fracture|Compound Fractures|Fracture, Compound|Fracture, Open|Fractures, Compound|Open Fracture|Open Fractures
C536498|273395||Tetra-amelia autosomal recessive|Autosomal recessive tetra-amelia|Tetra-Amelia|Tetraamelia, Autosomal Recessive|Tetra-Amelia, Autosomal Recessive|Tetra-Amelia Syndrome
C535905||Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
C535908||Marcus Gunn phenomenon|Familial Marcus Gunn phenomenon|Jaw-winking|Maxillopalpebral synkinesis
C535909||Marden Walker like syndrome|Blepharophimosis, arachnodactyly, and congenital contractures|Marden Walker like syndrome without psychomotor retardation|Marden-Walker-Like Syndrome Without Psychomotor Retardation|Van den Ende Gupta syndrome|Van Den Ende-Gupta Syndrome|VDEGS
C536801|606232||Telomeric 22q13 Monosomy Syndrome|22q13.3 Deletion Syndrome|22q13 Deletion Syndrome|Chromosome 22q13.3 Deletion Syndrome|Deletion 22q13.3 Syndrome|Deletion 22q13 Syndrome|Monosomy 22q13|Phelan-McDermid Syndrome|TELOMERIC 22q13 MONOSOMY SYNDROME
D017574||Parasystole|Parasystoles
D017577||Cutaneous Fistula|Cutaneous Fistulas|External Fistula|External Fistulas|Fistula, Cutaneous|Fistula, External|Fistulas, Cutaneous|Fistulas, External|Fistula, Skin|Fistulas, Skin|Skin Fistula|Skin Fistulas
115200|D002311|C580047||Cardiomyopathy, Dilated|1A, Dilated cardiomyopathy|1As, Dilated cardiomyopathy|Cardiomyopathies, Congestive|Cardiomyopathies, Dilated|Cardiomyopathies, Familial Idiopathic|Cardiomyopathies, Idiopathic Dilated|cardiomyopathy 1A, Dilated|cardiomyopathy 1As, Dilated|Cardiomyopathy, Congestive|Cardiomyopathy, Dilated, 1a|CARDIOMYOPATHY, DILATED, 1GG|CARDIOMYOPATHY, DILATED, 1R|Cardiomyopathy, Dilated, Autosomal Recessive|Cardiomyopathy, Dilated, CMD1A|Cardiomyopathy, Dilated, LMNA|Cardiomyopathy, Dilated, With Conduction Defect 1|Cardiomyopathy, Dilated, with Conduction Deffect1|Cardiomyopathy, Familial Idiopathic|Cardiomyopathy, Idiopathic Dilated|CDCD1|CMD1A|CMD1GG|CMD1R|Congestive Cardiomyopathies|Congestive Cardiomyopathy|Dilated Cardiomyopathies|Dilated Cardiomyopathies, Idiopathic|Dilated Cardiomyopathy|Dilated cardiomyopathy 1A|Dilated cardiomyopathy 1As|Dilated Cardiomyopathy, Idiopathic|Familial Idiopathic Cardiomyopathies|Familial Idiopathic Cardiomyopathy|Idiopathic Cardiomyopathies, Familial|Idiopathic Cardiomyopathy, Familial|Idiopathic Dilated Cardiomyopathies|Idiopathic Dilated Cardiomyopathy|LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED|LVNC4, INCLUDED|Dmd-Associated Dilated Cardiomyopathy|Cmd3b|Dilated Cardiomyopathy 3b|Dmd-Related Dilated Cardiomyopathy|X-Linked Dilated Cardiomyopathy
C538199||Deafness, autosomal dominant nonsyndromic sensorineural 24
C563111||Absent Eyebrows and Eyelashes with Mental Retardation|Pseudoprogeria Syndrome
D016262||Postpoliomyelitis Syndrome|Muscular Atrophies, Postpoliomyelitis|Muscular Atrophies, Post-Poliomyelitis|Muscular Atrophy, Postpoliomyelitis|Muscular Atrophy, Post-Poliomyelitis|Postpoliomyelitis Muscular Atrophies|Post-Poliomyelitis Muscular Atrophies|Postpoliomyelitis Muscular Atrophy|Post Poliomyelitis Muscular Atrophy|Post-Poliomyelitis Muscular Atrophy|Post Poliomyelitis Syndrome|Post-Poliomyelitis Syndrome|Post-Polio Syndrome|Post-Polio Syndromes
D017593||Kleine-Levin Syndrome|Familial Hibernation (Kleine-Levin) Syndrome|Familial Kleine Levin Syndrome|Familial Kleine-Levin Syndrome|Hibernation Syndrome, Kleine-Levin|Hypersomnia, Periodic|Kleine Levin Critchley Syndrome|Kleine-Levin-Critchley Syndrome|Kleine Levin Hibernation Syndrome|Kleine-Levin Hibernation Syndrome|Kleine Levin Syndrome|Kleine-Levin Syndrome, Familial|Periodic Hypersomnia|Periodic Hypersomnias|Syndrome, Familial Kleine-Levin|Syndrome, Kleine-Levin|Syndrome, Kleine-Levin-Critchley|Syndrome, Kleine-Levin Hibernation
C564442||Cleft Palate with Ankyloglossia
C538198||Deafness, autosomal dominant nonsyndromic sensorineural 23
C565777||Colorectal Cancer, Hereditary Nonpolyposis, Type 7|HNPCC7
D016263||AIDS-Associated Nephropathy|AIDS Associated Nephropathies|AIDS-Associated Nephropathies|AIDS Associated Nephropathy|AIDS Nephropathies|AIDS Nephropathy|HIV Associated Nephropathies|HIV-Associated Nephropathies|HIV Associated Nephropathy|HIV-Associated Nephropathy|HIV Related Nephropathies|HIV-Related Nephropathies|HIV Related Nephropathy|HIV-Related Nephropathy|Human Immunodeficiency Virus Associated Nephropathy|Human Immunodeficiency Virus-Associated Nephropathy|Nephropathies, AIDS|Nephropathies, AIDS Associated|Nephropathies, AIDS-Associated|Nephropathies, HIV Associated|Nephropathies, HIV-Associated|Nephropathies, HIV Related|Nephropathies, HIV-Related|Nephropathy, AIDS|Nephropathy, AIDS Associated|Nephropathy, AIDS-Associated|Nephropathy, HIV Associated|Nephropathy, HIV-Associated|Nephropathy, HIV Related|Nephropathy, HIV-Related
C538197||Deafness, autosomal dominant nonsyndromic sensorineural 22|Deafness, Autosomal Dominant 22|DFNA22|DFNA 22
C564440||Colorblindness, Partial Tritanomaly|Tritanomalous Colorblindness
C565771||Human Herpesvirus Type 6, Integrated
C564446||Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
C565773||Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
D017590||Myelinolysis, Central Pontine|Central Pontine Myelinoclasis|Central Pontine Myelinolysis|Extrapontine Myelinoclases|Extrapontine Myelinoclasis|Extrapontine Myelinolyses|Extrapontine Myelinolysis|Myelinoclases, Extrapontine|Myelinoclasis, Central Pontine|Myelinoclasis, Extrapontine|Myelinolyses, Extrapontine|Myelinolysis, Extrapontine|Pontine Myelinolysis, Central
C538192||Furlong syndrome|Marfanoid disorder with craniosynostosis, type 2
C563119||Sao Paulo MCA/MR Syndrome
C538190||Muscular dystrophy, congenital, with central nervous system involvement|Muscular dystrophy, congenital progressive, with mental retardation
C564449||Cerebral Sclerosis, Diffuse, Scholz Type
C538196||Atlanto-Axial Fusion|Atlantoaxial Fusion|Atlantoaxial joint fusion
C565779||Ataxia Telangiectasia Like Disorder
C538195||Atkin syndrome|Atkin Flaitz Patil Smith syndrome|Atkin-Flaitz syndrome|Mental retardation, X-linked, 21|Mental Retardation, X-Linked 21|Mental retardation X-linked Atkin type|Mental retardation X-linked, Atkin type|Mental retardation, X-linked, nonspecific|Mental retardation, X-linked nonspecific, type 1|MRX21|X-linked mental retardation syndrome, Atkin type
C538194||Furunculous myiasis|Furuncular myiasis
D028227||Amyloid Neuropathies, Familial|Amyloid Neuropathy, Familial|Amyloid Neuropathy Type 1|Amyloidoses, Hereditary Neuropathic|Amyloidoses, Portuguese Polyneuritic|Amyloidosis, Hereditary Neuropathic|Amyloidosis, Portuguese Polyneuritic|Amyloid Polyneuropathies, Familial|Amyloid Polyneuropathy, British Type|Amyloid Polyneuropathy, Familial|Amyloid Polyneuropathy, Iowa Type|Amyloid Polyneuropathy, Swiss Type|Amyloid Syndrome, Neuropathic|Amyloid Syndromes, Neuropathic|Appalachian Type Familial Amyloid Polyneuropathy|British Type Amyloid Polyneuropathy|Familial Amyloid Neuropathies|Familial Amyloid Neuropathy|Familial Amyloid Neuropathy, Andrade Type|Familial Amyloid Neuropathy, Finnish Type|Familial Amyloid Neuropathy, Portuguese Type|Familial Amyloid Polyneuropathies|Familial Amyloid Polyneuropathy|Familial Amyloid Polyneuropathy, Appalachian Type|Familial Amyloid Polyneuropathy, Jewish Type|Familial Amyloid Polyneuropathy, Type I|Familial Amyloid Polyneuropathy, Type II|Familial Amyloid Polyneuropathy, Type III|Familial Amyloid Polyneuropathy, Type IV|Familial Amyloid Polyneuropathy, Type V|Familial Amyloid Polyneuropathy, Type VI|Familial Portuguese Polyneuritic Amyloidosis|Finnish Type Familial Amyloid Neuropathy|Hereditary Neuropathic Amyloidoses|Hereditary Neuropathic Amyloidosis|Iowa Type Amyloid Polyneuropathy|Jewish Type Familial Amyloid Polyneuropathy|Neuropathic Amyloidoses, Hereditary|Neuropathic Amyloidosis, Hereditary|Neuropathic Amyloid Syndrome|Neuropathic Amyloid Syndromes|Neuropathies, Familial Amyloid|Neuropathy, Familial Amyloid|Polyneuritic Amyloidoses, Portuguese|Polyneuritic Amyloidosis, Portuguese|Polyneuropathies, Familial Amyloid|Polyneuropathy, Familial Amyloid|Portuguese Polyneuritic Amyloidoses|Portuguese Polyneuritic Amyloidosis|Portuguese Type Familial Amyloid Neuropathy|Swiss Type Amyloid Polyneuropathy|Syndrome, Neuropathic Amyloid|Syndromes, Neuropathic Amyloid|Syndrome, Wohlwill-Andrade|Syndrome, Wohlwill-Corino Andrade|Type I Familial Amyloid Polyneuropathy|Type II Familial Amyloid Polyneuropathy|Type III Familial Amyloid Polyneuropathy|Type IV Familial Amyloid Polyneuropathy|Type V Familial Amyloid Polyneuropathy|Type VI Familial Amyloid Polyneuropathy|Wohlwill Andrade Syndrome|Wohlwill-Andrade Syndrome|Wohlwill Corino Andrade Syndrome|Wohlwill-Corino Andrade Syndrome
C538193||Furukawa Takagi Nakao syndrome
D028226||Amyloidosis, Familial|Amyloidoses, Familial|Amyloidoses, Hereditary|Amyloidosis - hereditaries|Amyloidosis hereditary|Amyloidosis - hereditary|Amyloidosis, Hereditary|Familial Amyloidoses|Familial Amyloidosis|Hereditary Amyloidoses|Hereditary Amyloidosis
D004283||Dog Diseases|Canine Disease|Canine Diseases|Disease, Canine|Disease, Dog|Diseases, Canine|Diseases, Dog|Dog Disease
C535915||Cartilage hair hypoplasia like syndrome
C535914||Mononen Karnes Senac syndrome
C535917||Cartwright Nelson Fryns syndrome
C565781||Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia
C535911||Marfan Syndrome type 2|Marfan like connective tissue disorder
C535910||Marden-Walker syndrome|Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly|Connective Tissue Disorder, Marden-Walker Type|Generalized connective tissue syndrome
C535913||Marinesco-Sjogren-like syndrome (MSLS)
D017588||Hyperandrogenism
C565742||Hyaluronan Metabolism, Defect in
C538121||Hirschsprung disease type 3
C565744||Mandibulofacial Dysostosis Syndrome, Bauru Type
C538120||Hirschsprung disease polydactyly heart disease
D017562||Postcholecystectomy Syndrome|Post Cholecystectomy Syndrome|Post-Cholecystectomy Syndrome|Postcholecystectomy Syndromes|Post-Cholecystectomy Syndromes|Postcholedochoduodenostomy Syndrome|Post Choledochoduodenostomy Syndrome|Post-Choledochoduodenostomy Syndrome|Postcholedochoduodenostomy Syndromes|Post-Choledochoduodenostomy Syndromes|Postcholedochojejunostomy Syndrome|Post Choledochojejunostomy Syndrome|Post-Choledochojejunostomy Syndrome|Postcholedochojejunostomy Syndromes|Post-Choledochojejunostomy Syndromes|Postcholedochostomy Syndrome|Post Choledochostomy Syndrome|Post-Choledochostomy Syndrome|Postcholedochostomy Syndromes|Post-Choledochostomy Syndromes|Sump Syndrome|Sump Syndromes|Syndrome, Postcholecystectomy|Syndrome, Post-Cholecystectomy|Syndrome, Postcholedochoduodenostomy|Syndrome, Post-Choledochoduodenostomy|Syndrome, Postcholedochojejunostomy|Syndrome, Post-Choledochojejunostomy|Syndrome, Postcholedochostomy|Syndrome, Post-Choledochostomy|Syndromes, Postcholecystectomy|Syndromes, Post-Cholecystectomy|Syndromes, Postcholedochoduodenostomy|Syndromes, Post-Choledochoduodenostomy|Syndromes, Postcholedochojejunostomy|Syndromes, Post-Choledochojejunostomy|Syndromes, Postcholedochostomy|Syndromes, Post-Choledochostomy|Syndromes, Sump|Syndrome, Sump
C538126||Kuster syndrome
C564413||Hernia, Anterior Diaphragmatic
C538125||Kuster Majewski Hammerstein syndrome|Alopecia, macular degeneration, and growth retardation|Alopecia macular degeneration growth retardation
129750|C536185||Ectopia pupillae|Familial ectopic pupil
C538124||Kuskokwim disease|Arthrogryposis-like disorder
C565741||Retinal Dystrophy, Early Onset Severe
C564411||Hhhh Syndrome|Hereditary Hemihypotrophy Hemiparesis Hemiathetosis Syndrome
C563256|121850||Corneal Dystrophy, Fleck|CFD|Corneal Dystrophy, Francois-Neetens Speckled or Flecked|FCD|Fleck Corneal Dystrophy
C564416||Gynecomastia, Familial
C564415||Hemophilia A with Vascular Abnormality
C565746||Microcephaly, Primary Autosomal Recessive, 3
C566589|603511||Muscular Dystrophy, Limb-Girdle, Type 1E|LGMD1D, FORMERLY|LGMD1E|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D, FORMERLY
D004244||Dizziness|Dizzyness|Lightheadedness|Light Headedness|Light-Headedness|Orthostasis
C565749||Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
D011504|226300||Protein-Losing Enteropathies|Enteropathies, Exudative|Enteropathies, Protein-Losing|Enteropathy, Exudative|Enteropathy, Protein-Losing|Exudative Enteropathies|Exudative Enteropathy|Hypercatabolic Hypoproteinemia, Idiopathic|Hypercatabolic Hypoproteinemias, Idiopathic|Hypoproteinemia, Idiopathic Hypercatabolic|Hypoproteinemias, Idiopathic Hypercatabolic|Idiopathic Hypercatabolic Hypoproteinemia|Idiopathic Hypercatabolic Hypoproteinemias|Protein Losing Enteropathies|Protein Losing Enteropathy|Protein-Losing Enteropathy
301050||ALPORT SYNDROME, X-LINKED|ATS|NEPHROPATHY AND DEAFNESS, X-LINKED
D018888||Aphasia, Primary Progressive|Aphasias, Primary Progressive|Mesulam&apos;s Syndrome|Mesulam Syndrome|Primary Progressive Aphasia|Primary Progressive Aphasias|Progressive Aphasia, Primary|Progressive Aphasias, Primary|Syndrome, Mesulam|Syndrome, Mesulam&apos;s
C538119||Hirschsprung disease ganglioneuroblastoma|Neuroblastoma with Hirschsprung disease
D018887||Landau-Kleffner Syndrome|Acquired Aphasia with Convulsive Disorder|Acquired Childhoood Aphasia with Convulsive Disorder|Acquired Epileptic Aphasia|Acquired Epileptic Aphasias|Acquired Epileptiform Aphasia|Acquired Epileptiform Aphasias|Aphasia, Acquired Epileptic|Aphasia, Acquired, With Convulsive Disorder|Aphasia, Epileptic, Acquired|Epileptic Aphasia, Acquired|Epileptic Aphasias, Acquired|Epileptiform Aphasia, Acquired|Epileptiform Aphasias, Acquired|Landau Kleffner Acquired Epileptiform Aphasia|Landau-Kleffner Acquired Epileptiform Aphasia|Landau Kleffner Syndrome|Syndrome, Landau-Kleffner
C538117||Human Herpesvirus 6 encephalitis
231550|C536008||Achalasia Addisonianism Alacrimia syndrome|AAAS|Aaa Syndrome|Achalasia-Addisonianism-Alacrima Syndrome|Achalasia-Addisonian Syndrome|Achalasia-Alacrima Syndrome|Achalasia alacrimia syndrome|Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima|ACTH resistant adrenal insufficiency, achalasia and alacrima|ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME, INCLUDED|Addisonian achalasia syndrome|Addisonian-Achalasia Syndrome|Alacrima-Achalasia-Addisonianism|Alacrima-achalasia-adrenal insufficiency neurologic disorder|Allgrove syndrome|Glucocorticoid deficiency and achalasia|Hypoadrenalism with achalasia|Infantile achalasia with alacrima|Triple A syndrome|Triple-A Syndrome
D018883||Heat Stroke|Heatstroke|Heatstrokes|Heat Strokes|Stroke, Heat|Strokes, Heat
D018886||Aphasia, Conduction|Aphasia, Associative|Aphasias, Associative|Aphasias, Conduction|Associative Aphasia|Associative Aphasias|Associative Dysphasia|Associative Dysphasias|Conduction Aphasia|Conduction Aphasias|Conduction Dysphasia|Conduction Dysphasias|Dysphasia, Associative|Dysphasia, Conduction|Dysphasias, Associative|Dysphasias, Conduction
C538134||Lactic acidosis congenital infantile
C564421||Liver Glycogenosis, X-Linked, Type II
C535664|605967||Acropectoral syndrome|ACRPS|ACRP SYNDROME|Syndactyly, preaxial polydactyly, and sternal deformity
C565755||Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia|ROCA Syndrome|ROCA-Weidemann Syndrome
C538131||Lachiewicz Sibley syndrome|Hereditary renal disease and preauricular pits
D017573||Focal Epithelial Hyperplasia|Disease, Heck|Disease, Heck&apos;s|Epithelial Hyperplasia, Focal|Epithelial Hyperplasias, Focal|Focal Epithelial Hyperplasia, Oral|Focal Epithelial Hyperplasias|Heck Disease|Heck&apos;s Disease|Hecks Disease|Hyperplasia, Focal Epithelial|Hyperplasias, Focal Epithelial
C564425||Fingerprint Body Myopathy
C564424||Genitourinary Tract Anomalies
190900||TRITANOPIA|BLUE COLORBLINDNESS|CBT|COLORBLINDNESS, TRITAN|COLORBLINDNESS, TRITANOPIC
C538135||Ladda Zonana Ramer syndrome|Arthrogryposis, ectodermal dysplasia, cleft lip palate and developmental delay|Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment
C564422||Glutamyl Ribose-5-Phosphate Storage Disease|ADP-Ribose Protein Hydrolase Deficiency
C564429||Anemia, X-Linked, without Thrombocytopenia
D005588||Fox-Fordyce Disease|Apocrine Miliaria|Disease, Fox-Fordyce|Fox Fordyce Disease|Fox Fordyce Syndrome|Fox-Fordyce Syndrome|Miliaria, Apocrine|Syndrome, Fox-Fordyce
C564428||Exudative Vitreoretinopathy, Familial, X-Linked Recessive|Exudative Vitreoretinopathy, Familial, 2|FEVR, X-Linked
C564427||Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
610725||NEPHROTIC SYNDROME, TYPE 3|NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3|NPHS3
C538130||Kyrle disease|Hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle&apos;s disease
D005585||Influenza in Birds|Avian Flu|Avian Influenza|Avian Influenzas|Flu, Avian|Fowl Plague|Influenza, Avian|Influenza in Bird|Influenzas, Avian|Plague, Fowl
C565758||Aortic Aneurysm, Giant Congenital
D005586||Fowlpox|Birdpox|Bird Pox|Diphtheria, Fowl|Diphtherias, Fowl|Epithelioma Contagiosum|Fowl Diphtheria|Fowl Diphtherias|Fowl Pox|Pox, Bird|Pox, Fowl|Variola Avium
608410||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7|BMIQ7|OBESITY, SUSCEPTIBILITY TO
C537201|610245||Spinocerebellar ataxia 23|SCA23
C537841|250800||NADH cytochrome B5 reductase deficiency|Diaphorase deficiency|Methemoglobinemia, Congenital, Autosomal Recessive|METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I, INCLUDED|Methemoglobinemia due to deficiency of methemoglobin reductase|Methemoglobinemia, Type I|Methemoglobinemia, Type Ii|METHEMOGLOBINEMIA, TYPE II, INCLUDED|Nadh-Cytochrome B5 Reductase Deficiency|Nadh-Cytochrome B5 Reductase Deficiency, Type I|Nadh-Cytochrome B5 Reductase Deficiency, Type Ii|NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II, INCLUDED|NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I, INCLUDED|NADH-dependent methemoglobin reductase deficiency|NADH diaphorase deficiency|NADH methemoglobin reductase deficiency
250460|C563574||Metaphyseal Dysplasia without Hypotrichosis|Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency|Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only|CHHV
C567129|611705||Myopathy, Early-Onset, with Fatal Cardiomyopathy|EOMFC
D059409||Stroke, Lacunar|Infarction, Lacunar|Infarctions, Lacunar|Infarct, Lacunar|Infarcts, Lacunar|Lacunar Infarct|Lacunar Infarction|Lacunar Infarctions|Lacunar Infarcts|Lacunar Stroke|Lacunar Strokes|Lacunar Syndrome|Lacunar Syndromes|Strokes, Lacunar|Syndrome, Lacunar|Syndromes, Lacunar
C565309|605670||Late-Onset Retinal Degeneration|LORD|Retinal Degeneration, Late-Onset, Autosomal Dominant
C538128||Kyphomelic dysplasia|Bowing, congenital, with short bones
D017563||Lung Diseases, Interstitial|Diffuse Parenchymal Lung Diseases|Interstitial Lung Disease|Interstitial Lung Diseases|Interstitial Pneumonia|Interstitial Pneumonias|Interstitial Pneumonitides|Interstitial Pneumonitis|Lung Disease, Interstitial|Pneumonia, Interstitial|Pneumonias, Interstitial|Pneumonitides, Interstitial|Pneumonitis, Interstitial
D017564||Radiation Pneumonitis|Fibrosis, Radiation|Pneumonia, Radiation|Pneumonias, Radiation|Pneumonitides, Radiation|Pneumonitis, Radiation|Radiation Fibrosis|Radiation Pneumonia|Radiation Pneumonias|Radiation Pneumonitides
D059407||Pinguecula|Pingueculas
D017565||Sarcoidosis, Pulmonary|Pulmonary Sarcoidoses|Pulmonary Sarcoidosis|Sarcoidoses, Pulmonary
D017566||Microvascular Angina|Angina, Microvascular|Angina Pectoris with Normal Coronary Arteriogram|Angina Syndrome X|Angina Syndrome Xs|Angina X Syndrome|Angina X Syndromes|Cardiac Syndrome X|Syndrome, Angina X|Syndrome X, Angina|Syndrome X, Cardiac|Syndrome Xs, Angina|X Syndrome, Angina
C538145||Sutton disease 2|Aphthous Stomatitis, Recurrent|Aphthous Ulcer, Recurrent|Major Aphthous Ulcer|Major Canker Sore|Recurrent Scarring Aphthae
C538144||Supraumbilical midabdominal raphe and facial cavernous hemangiomas|Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe|Hemangiomas cavernous of face supraumbilical midline raphe|Raphe, supraumbilical midline, with cavernous facial hemangiomas|Sternal nonunion with supraumbilical raphe
C565722||Encephalopathy, Spastic Tetraparesis, and Hypogonadism
C538142||Summitt syndrome|Recessive acrocephalosyndactyly with normal intelligence|Summitt&apos;s acrocephalosyndactyly
C538148||Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch|Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch
C566418|603010||Deafness, Autosomal Recessive 17|DFNB17
C538147||Symmastia|Medial confluence of the breasts
612463|D011556||Pseudopseudohypoparathyroidism|Albright Hereditary Osteodystrophy without Multiple Hormone Resistance|PPHP|Pseudopseudo Hypoparathyroidism|Pseudopseudo-Hypoparathyroidism|Pseudo Pseudohypoparathyroidism|Pseudo-Pseudohypoparathyroidism|Pseudopseudohypoparathyroidisms|Pseudopseudo-Hypoparathyroidisms|Pseudo-Pseudohypoparathyroidisms
C565728||Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
C565729||Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia
250790|C567102||Methemoglobinemia Type IV|Methemoglobinemia due to Deficiency of Cytochrome B5
D059411||Lower Urinary Tract Symptoms
D059413||Intraabdominal Infections|Infection, Intraabdominal|Infection, Intra-Abdominal|Infections, Intraabdominal|Infections, Intra-Abdominal|Intraabdominal Infection|Intra-Abdominal Infection|Intra Abdominal Infections|Intra-Abdominal Infections
C567456|611928||Prostate Cancer, Hereditary, 13|HPC13
194470||ZINC, ELEVATED PLASMA|ALBUMIN BINDING OF ZINC, ELEVATED|HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC HYPERZINCEMIA AND HYPERCALPROTECTINEMIA, INCLUDED
D031845||Hajdu-Cheney Syndrome|Acroosteolysis with Osteoporosis and Changes in Skull and Mandible|Arthrodentoosteodysplasia|Arthrodentoosteodysplasias|Cheney Syndrome|Hajdu Cheney Syndrome|Multicentric Osteolyses|Multicentric Osteolysis|Osteolyses, Multicentric|Osteolysis, Multicentric
C566605|613705||Orofacial Cleft 10|Cleft Lip with or without Cleft Palate, Nonsyndromic, 10|OFC10
C566612|601868||Deafness, Autosomal Dominant 13|DFNA13
C538156||Synostoses, tarsal, carpal, and digital|Calcaneonavicular coalition
C565731||Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
D018880||Atrial Premature Complexes|Atrial Beat, Premature|Atrial Beats, Premature|Atrial Complex, Premature|Atrial Complices, Premature|Atrial Contraction, Premature|Atrial Contractions, Premature|Atrial Ectopic Beat|Atrial Ectopic Beats|Atrial Extrasystole|Atrial Extrasystoles|Atrial Premature Complex|Atrial Premature Complices|Ectopic Beat, Atrial|Ectopic Beats, Atrial|Extrasystole, Atrial|Extrasystoles, Atrial|Premature Atrial Beat|Premature Atrial Beats|Premature Atrial Complex|Premature Atrial Complices|Premature Atrial Contraction|Premature Atrial Contractions|Premature Complex, Atrial|Premature Complexes, Atrial|Premature Complices, Atrial|Premature Supraventricular Beat|Premature Supraventricular Beats|Supraventricular Beat, Premature|Supraventricular Beats, Premature
D000742|105600||Anemia, Dyserythropoietic, Congenital|Anemia, Congenital Dyserythropoietic|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia|Anemia, Congenital Dyserythropoietic, Type II|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV|Anemia, Dyserythropoietic, Congenital Type 1|Anemia, Dyserythropoietic, Congenital Type 2|Anemia, Dyserythropoietic Congenital, Type I|Anemia, Dyserythropoietic, Congenital, Type I|Anemia, Dyserythropoietic Congenital, Type II|Anemia, Dyserythropoietic, Congenital, Type II|Anemia, Dyserythropoietic Congenital, Type III|Anemia, Dyserythropoietic, Congenital, Type III|Anemias, Congenital Dyserythropoietic|Anemia With Multinucleated Erythroblasts|CDA Ia|CDA II|CDA III|CDAN1A|CDAN2|CDAN3|CDAN4|CDA, TYPE IV|Congenital Dyserythropoietic Anemia|Congenital Dyserythropoietic Anemias|Congenital Dyserythropoietic Anemia Type 1|Congenital Dyserythropoietic Anemia, Type I|Congenital Dyserythropoietic Anemia Type II|Congenital Dyserythropoietic Anemia, Type III|Dyserythropoietic Anemia, Congenital|Dyserythropoietic Anemia, Congenital Type 1|Dyserythropoietic Anemia, Congenital Type 2|Dyserythropoietic Anemia, Congenital, Type I|DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia|Dyserythropoietic Anemia, Congenital, Type II|Dyserythropoietic Anemia, Congenital, Type III|Dyserythropoietic Anemia, HEMPAS Type|Dyserythropoietic Anemias, Congenital|ERYTHRORETICULOSIS, HEREDITARY BENIGN|HEMPAS|HEMPAS Anemia|HEMPAS Anemias|Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test|Hereditary Erythroblast Multinuclearity with Positive Acidified Serum|Type I Congenital Dyserythropoietic Anemia
D018882||Heat Stress Disorders|Cramp, Heat|Cramps, Heat|Disorder, Heat Stress|Disorders, Heat Stress|Heat Cramp|Heat Cramps|Heat Stress Disorder|Heat Stress Syndrome|Heat Stress Syndromes|Stress Disorder, Heat|Stress Disorders, Heat|Stress Syndrome, Heat|Stress Syndromes, Heat|Syndrome, Heat Stress|Syndromes, Heat Stress
C538153||Syndactyly, type 2|Synpolydactyly
C565734||Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
D046110||Hypertension, Pregnancy-Induced|Gestational Hypertension|Hypertension, Gestational|Hypertension, Pregnancy Induced|Hypertension, Pregnancy Transient|Hypertensions, Pregnancy Induced|Induced Hypertension, Pregnancy|Induced Hypertensions, Pregnancy|Pregnancy Induced Hypertension|Pregnancy-Induced Hypertension|Pregnancy Transient Hypertension|Transient Hypertension, Pregnancy
C564403||Coenzyme Q10 Deficiency|Coenzyme Q Deficiency|Coq10 Deficiency, Primary|CoQ Deficiency|Ubiquinone Deficiency
D004239||Diverticulitis, Colonic|Colonic Diverticulitis
C538158||McDonough syndrome|Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect
C567403|612165||Retinitis Pigmentosa 29|RP29
C565730||Diabetes Mellitus, Congenital Autoimmune
C565739||Asthma and Nasal Polyps
C564407||Hydrocephalus With Cerebellar Agenesis
C564406||Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
D004238||Diverticulitis|Diverticulitides
C564405||Hypouricemia, Familial Renal, due to Tubular Hypersecretion
190351|C566033||Trichorhinophalangeal Syndrome, Type III|Sugio-Kajii Syndrome|TRPS3
C538152||Filippi syndrome|Syndactyly type I with microcephaly and mental retardation|Syndactyly, Type I, With Microcephaly And Mental Retardation
C565735||Becker Nevus Syndrome
C565736||Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation|Okamoto Syndrome
C536159|308800||Keratosis Follicularis Spinulosa Decalvans, X-Linked|Keratosis follicularis spinulosa decalvans|Keratosis follicularis spinulosa decalvans cum ophiasi|Kfsdx
C566284|105800||Aneurysm, Intracranial Berry, 1|Aneurysmal Subarachnoid Hemorrhage, Familial|ANIB1
C564409||Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence
C565738||Bardet-Biedl Syndrome 6
C564408||Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction
256810||MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)|MTDPS6|NAVAJO NEUROHEPATOPATHY|NAVAJO NEUROPATHY;NN NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED|NNH
D004241||Diverticulum, Colon|Colon Diverticula|Colon Diverticulum|Colonic Diverticula|Colonic Diverticulum|Diverticula, Colon|Diverticula, Colonic|Diverticulum, Colonic
D004240||Diverticulum|Diverticula|Diverticulosis
115650||CATARACT 32, MULTIPLE TYPES|CAP|CATARACT, ANTERIOR POLAR|CATARACT, ANTERIOR POLAR, 1|CATARACT, POSTERIOR POLAR, 5|CTAA1|CTPP5|CTRCT32
D017545||Aortic Aneurysm, Thoracic|Aneurysms, Thoracoabdominal Aortic|Aneurysm, Thoracic Aortic|Aneurysm, Thoracoabdominal Aortic|Aortic Aneurysms, Thoracic|Aortic Aneurysms, Thoracoabdominal|Aortic Aneurysm, Thoracoabdominal|Thoracic Aortic Aneurysm|Thoracic Aortic Aneurysms|Thoracoabdominal Aortic Aneurysm|Thoracoabdominal Aortic Aneurysms
D018877||Sick Building Syndrome|Syndrome, Sick Building
C535739|212065||Congenital disorder of glycosylation type 1A|Carbohydrate-deficient glycoprotein syndrome type 1A|Carbohydrate-Deficient Glycoprotein Syndrome Type Ia|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY|CDG1A|CDGIa|CDG Ia|Congenital Disorder of Glycosylation Type Ia|Congenital Disorder of Glycosylation, Type Ia|Jaeken syndrome|Phosphomannomutase 2 deficiency
D018876||Environmental Illness|Environmental Hypersensitivities|Environmental Hypersensitivity|Environmental Illnesses|Hypersensitivities, Environmental|Hypersensitivity, Environmental|Illness, Environmental|Illnesses, Environmental
D018879||Ventricular Premature Complexes|Ectopic Beats, Ventricular|Ectopic Beat, Ventricular|Extrasystole, Ventricular|Premature Ventricular Beat|Premature Ventricular Beats|Premature Ventricular Complex|Premature Ventricular Contraction|Premature Ventricular Contractions|Ventricular Beat, Premature|Ventricular Beats, Premature|Ventricular Complex, Premature|Ventricular Contraction, Premature|Ventricular Contractions, Premature|Ventricular Ectopic Beat|Ventricular Ectopic Beats|Ventricular Extrasystole|Ventricular Extrasystoles|Ventricular Premature Complex
D017541||Aneurysm, False|Aneurysms, False|False Aneurysm|False Aneurysms|Pseudoaneurysm|Pseudoaneurysms
D017542||Aneurysm, Ruptured|Aneurysms, Ruptured|Ruptured Aneurysm|Ruptured Aneurysms
D017543||Iliac Aneurysm|Aneurysm, Iliac|Aneurysms, Iliac|Iliac Aneurysms
D017544||Aortic Aneurysm, Abdominal|Abdominal Aortic Aneurysm|Abdominal Aortic Aneurysms|Aneurysm, Abdominal Aortic|Aneurysms, Abdominal Aortic|Aortic Aneurysms, Abdominal
C536457|124500||Vohwinkel syndrome|Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes|DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES|Keratoderma hereditarium mutilans|KHM|Mutilating keratoderma|Palmoplantar Keratoderma Mutilans|Palmoplantar Keratoderma Mutilans Vohwinkel|Ppk Mutilans Vohwinkel|VOHWINKEL SYNDROME
C535380|301830||Arthrogryposis multiplex congenita, distal, X-linked|AMC, distal, X-linked|Amcx1|ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED|Arthrogryposis, X-Linked, Type I|Smax2|Spinal Muscular Atrophy, Infantile X-Linked|Spinal Muscular Atrophy, X-Linked 2|Spinal Muscular Atrophy, X-Linked Lethal Infantile|Xlsma
D006869||Hydronephrosis|Hydronephroses
D005534||Foot Diseases|Disease, Foot|Diseases, Foot|Foot Disease
D005533||Foot Dermatoses|Dermatoses, Foot|Dermatosis, Foot|Foot Dermatosis
D005536||Foot-and-Mouth Disease|Disease, Foot-and-Mouth|Diseases, Foot-and-Mouth|Foot and Mouth Disease|Foot-and-Mouth Diseases
D004204||Dislocations|Dislocation
217300|C565677||Cornea Plana 2|CNA2
D005535||Foot Rot|Foot Rots|Rot, Foot|Rots, Foot
D005530||Foot Deformities|Cavus Deformities|Cavus Deformity|Deformities, Cavus|Deformities, Foot|Deformities, Metatarsal|Deformity, Cavus|Deformity, Foot|Deformity, Metatarsal|Foot Deformity|Metatarsal Deformities|Metatarsal Deformity|Pes Cavus|Talipes Cavus
D060426||Anti-N-Methyl-D-Aspartate Receptor Encephalitis|Anti-NMDA Receptor Encephalitides|Anti NMDA Receptor Encephalitis|Anti-NMDA Receptor Encephalitis|Anti-NMDAR Encephalitides|Anti-NMDAR Encephalitides, Non-paraneoplastic|Anti-NMDAR Encephalitides, Paraneoplastic|Anti NMDAR Encephalitis|Anti-NMDAR Encephalitis|Anti-NMDAR Encephalitis, Non-paraneoplastic|Anti-NMDAR Encephalitis, Paraneoplastic|Anti-N-Methyl-D-Aspartate Receptor Encephalitides|Anti N Methyl D Aspartate Receptor Encephalitis|Encephalitides, Anti-NMDAR|Encephalitides, Anti-NMDA Receptor|Encephalitides, Anti-N-Methyl-D-Aspartate Receptor|Encephalitides, Non-paraneoplastic Anti-NMDAR|Encephalitides, Paraneoplastic Anti-NMDAR|Encephalitis, Anti-NMDAR|Encephalitis, Anti-NMDA Receptor|Encephalitis, Anti-N-Methyl-D-Aspartate Receptor|Encephalitis, Non-paraneoplastic Anti-NMDAR|Encephalitis, Paraneoplastic Anti-NMDAR|Non paraneoplastic Anti NMDA Receptor Encephalitis|Non-paraneoplastic Anti-NMDA Receptor Encephalitis|Non-paraneoplastic Anti-NMDAR Encephalitides|Non paraneoplastic Anti NMDAR Encephalitis|Non-paraneoplastic Anti-NMDAR Encephalitis|Non paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis|Non-paraneoplastic Anti-N-Methyl-D-Aspartate Receptor Encephalitis|Paraneoplastic Anti NMDA Receptor Encephalitis|Paraneoplastic Anti-NMDA Receptor Encephalitis|Paraneoplastic Anti-NMDAR Encephalitides|Paraneoplastic Anti NMDAR Encephalitis|Paraneoplastic Anti-NMDAR Encephalitis|Paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis|Paraneoplastic Anti-N-Methyl-D-Aspartate Receptor Encephalitis|Receptor Encephalitides, Anti-NMDA|Receptor Encephalitis, Anti-NMDA
D005532||Foot Deformities, Congenital|Congenital Foot Deformities|Congenital Foot Deformity|Deformities, Congenital Foot|Deformity, Congenital Foot|Foot Deformity, Congenital
D060425||Cerebral Phaeohyphomycosis|Central Nervous System Phaeohyphomycosis|Central Nervous System Phaeohyphomycosis, Primary|Cerebral Phaeohyphomycoses|Phaeohyphomycoses, Cerebral|Phaeohyphomycosis, Central Nervous System|Phaeohyphomycosis, Central Nervous System, Primary|Phaeohyphomycosis, Cerebral|Primary Central Nervous System Phaeohyphomycosis
D004200||Diseases in Twins|Diseases in Twin|in Twin, Diseases|in Twins, Diseases|Twin, Diseases in|Twins, Diseases in
D005531||Foot Deformities, Acquired|Acquired Foot Deformities|Acquired Foot Deformity|Deformities, Acquired Foot|Deformity, Acquired Foot|Foot Deformity, Acquired
D029502||Anemia, Hypoplastic, Congenital|Anemia, Congenital Hypoplastic|Anemias, Congenital Hypoplastic|Congenital Hypoplastic Anemia|Congenital Hypoplastic Anemias|Hypoplastic Anemia, Congenital|Hypoplastic Anemias, Congenital
C563538|613426||Cardiomyopathy, Dilated, 1s|CMD1S|LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED|LVNC5, INCLUDED
D017512||Lichenoid Eruptions|Eruption, Licheniform|Eruption, Lichenoid|Eruptions, Licheniform|Eruptions, Lichenoid|Licheniform Eruption|Licheniform Eruptions|Lichenoid Eruption
D017513||Lichen Nitidus
D017514||Pityriasis Lichenoides|Acute Pityriasis Lichenoides|Chronic Pityriasis Lichenoides|Disease, Habermann|Disease, Habermann&apos;s|Disease, Mucha-Habermann|Habermann Disease|Habermann&apos;s Disease|Habermanns Disease|Mucha Habermann Disease|Mucha-Habermann Disease|Pityriasis Lichenoides, Acute|Pityriasis Lichenoides, Chronic|Pityriasis Lichenoides Chronica|Pityriasis Lichenoides et Varioliformis Acuta
172700|D020774||Pick Disease of the Brain|Atrophies, Lobar (Brain)|Atrophy, Lobar (Brain)|Brain Atrophy, Circumscribed Lobar|Circumscribed Lobar Atrophy of the Brain|Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions|Disease, Pick|Disease, Pick&apos;s|Lobar Atrophies (Brain)|Lobar Atrophy (Brain)|Lobar Atrophy Of Brain|Lobar Atrophy of the Brain|Pick Disease|Pick Disease Of Brain|Pick&apos;s Disease|Picks Disease|Picks Disease of Brain
D017515||Pityriasis Rosea
153600|D008258||Waldenstrom Macroglobulinemia|Familial Waldenstrom Macroglobulinaemia|Familial Waldenstrom&apos;s Macroglobulinaemia|Familial Waldenstroms Macroglobulinaemia|Lymphoma, Lymphocytic, Plasmacytoid|Lymphoma, Lymphoplasmacytoid|Lymphomas, Lymphoplasmacytoid|Lymphoplasmacytoid Lymphoma|Lymphoplasmacytoid Lymphomas|Macroglobulinaemia, Familial Waldenstrom&apos;s|Macroglobulinaemia, Waldenstrom&apos;s|Macroglobulinemia|Macroglobulinemia, Primary|Macroglobulinemia, Waldenstrom|Macroglobulinemia, Waldenstrom&apos;s|MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, INCLUDED|MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1|MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2|Primary Macroglobulinemia|Waldenstrom Macroglobulinaemia|Waldenstrom&apos;s Macroglobulinaemia|Waldenstroms Macroglobulinaemia|Waldenstrom&apos;s Macroglobulinaemia, Familial|Waldenstrom&apos;s Macroglobulinemia|Waldenstroms Macroglobulinemia|WM1|WM2
C536174|604809||Diffuse panbronchiolitis|DPB|Panbronchiolitis, diffuse|PBLT
C563975|600209||Exostoses, Multiple, Type III|EXT3
D017511||Pyoderma Gangrenosum
251260|D049932||Nijmegen Breakage Syndrome|Ataxia Telangiectasia Variant 1|Ataxia-Telangiectasia Variant 1|Ataxia-Telangiectasia Variant 1s|Ataxia Telangiectasia Variant V1|Ataxia-Telangiectasia Variant V1|Ataxia-Telangiectasia Variant V1s|ATAXIA-TELANGIECTASIA VARIANT V2, INCLUDED|At-V1|AT-V2, INCLUDED|BBS, INCLUDED|Berlin Breakage Syndrome|Breakage Syndrome, Berlin|Breakage Syndrome, Nijmegen|Immunodeficiency, Microcephaly, And Chromosomal Instability|IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME, INCLUDED|Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies|NBS|Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence|Seemanova Syndrome 2|Seemanova Syndrome II|Syndrome, Berlin Breakage|Syndrome, Nijmegen Breakage|Variant 1s, Ataxia-Telangiectasia|Variant V1, Ataxia-Telangiectasia|Variant V1s, Ataxia-Telangiectasia
D013274|137215||Stomach Neoplasms|Cancer, Gastric|Cancer of Stomach|Cancer of the Stomach|Cancers, Gastric|Cancers, Stomach|Cancer, Stomach|Gastric Cancer|Gastric Cancer, Familial Diffuse|GASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFT PALATE, INCLUDED|GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR, INCLUDED|GASTRIC CANCER, HEREDITARY DIFFUSE|GASTRIC CANCER, INTESTINAL, INCLUDED|Gastric Cancers|Gastric Neoplasm|Gastric Neoplasms|HDGC|LBC, INCLUDED|Neoplasm, Gastric|Neoplasms, Gastric|Neoplasms, Stomach|Neoplasm, Stomach|Stomach Cancer|Stomach Cancers|Stomach Neoplasm
D018860||Sneddon Syndrome|Livedo Reticularis And Cerebrovascular Accidents|Livedo Reticularis, Systemic Involvement|Sneddon Champion Syndrome|Sneddon-Champion Syndrome|Syndrome, Sneddon|Syndrome, Sneddon-Champion
D005549||Foreign-Body Reaction|Foreign Body Reaction|Reaction, Foreign-Body
D005548||Foreign-Body Migration|Foreign Body Migration|Foreign-Body Migrations|Migration, Foreign-Body|Migrations, Foreign-Body
C537627|245010||Keratosis palmoplantaris with periodontopathia and onychogryposis|Cochin Jewish disorder|Haim-Munk syndrome|HMS|KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS
D004213||Dissociative Disorders|Disorder, Dissociative|Disorders, Dissociative|Dissociation|Dissociative Disorder|Dissociative Hysteria|Dissociative Reaction|Dissociative Reactions|Fugue|Hysteria, Dissociative|Hysterias, Dissociative|Reaction, Dissociative|Reactions, Dissociative
D004216||Distemper|Canine Distemper|Canine Distempers|Distemper, Canine|Distempers|Distempers, Canine
D005547||Foreign Bodies|Bodies, Foreign|Body, Foreign|Foreign Body
313000||SPATIAL VISUALIZATION, APTITUDE FOR|VISUOSPATIAL/PERCEPTUAL ABILITIES;VSPA TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE, INCLUDED
D006876||Hydrothorax
D060437||Artificial Lens Implant Migration|Artificial Intra ocular Implant Dislocation|Artificial Intra-ocular Implant Dislocation|Artificial Lens Implant Dislocation
607731|C535415||Charcot-Marie-Tooth disease, Type 2H|Charcot-Marie-Tooth disease, axonal, Type 2H|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive|Cmt2h
D005543||Forearm Injuries|Forearm Injury|Injuries, Forearm|Injury, Forearm
D006871||Hydrophthalmos|Buphthalmos
D004211||Disseminated Intravascular Coagulation|Coagulation, Disseminated Intravascular|Coagulation, Intravascular Disseminated|Coagulations, Disseminated Intravascular|Coagulations, Intravascular Disseminated|Coagulopathies, Consumption|Coagulopathy, Consumption|Consumption Coagulopathies|Consumption Coagulopathy|Disseminated Coagulation, Intravascular|Disseminated Coagulations, Intravascular|Disseminated Intravascular Coagulations|Intravascular Coagulation, Disseminated|Intravascular Coagulations, Disseminated|Intravascular Disseminated Coagulation|Intravascular Disseminated Coagulations
D006872||Hydropneumothorax
D059445||Anhedonia|Anhedonia, Physical|Anhedonias|Anhedonia, Social|Anhedonias, Physical|Anhedonias, Social|Physical Anhedonia|Physical Anhedonias|Social Anhedonia|Social Anhedonias
144120|C564173||Hyperimmunoglobulin G1(A1) Syndrome|IGHR|IMMUNOGLOBULIN HEAVY CHAIN REGULATOR, INCLUDED
D018856||Cystitis, Interstitial|Chronic Interstitial Cystitides|Chronic Interstitial Cystitis|Cystitides, Chronic Interstitial|Cystitides, Interstitial|Cystitis, Chronic Interstitial|Interstitial Cystitides|Interstitial Cystitides, Chronic|Interstitial Cystitis|Interstitial Cystitis, Chronic|Painful Bladder Syndrome
D017520||Mucinoses|Mucinosis
C538100||Pagon Stephan syndrome|Septo-optic dysplasia with digital anomalies
C538105||Pallister Killian syndrome|Hexasomy 12p, Mosaic|Isochromosome 12p syndrome|Pallister-Killian Mosaic Syndrome|Pallister-Killian Syndrome|Teschler-Nicola-Killian Syndrome|Tetrasomy 12p, mosaic
D006848||Testicular Hydrocele|Hydrocele, Scrotal|Hydroceles, Scrotal|Hydroceles, Testicular|Hydroceles, Vaginal|Hydrocele, Testicular|Hydrocele, Vaginal|Scrotal Hydrocele|Scrotal Hydroceles|Testicular Hydroceles|Vaginal Hydrocele|Vaginal Hydroceles
C538103||Palindromic rheumatism|Palindromic rheumatism syndrome
C538102||Palant cleft palate syndrome|Unusual facies, cleft palate, mental retardation, and limb abnormalities
D005517||Foodborne Diseases|Disease, Foodborne|Disease, Food-borne|Diseases, Foodborne|Diseases, Food-borne|Food-borne Disease|Foodborne Disease|Food borne Diseases|Food-borne Diseases|Food borne Illnesses|Food-borne Illnesses|Foodborne Illnesses|Food Poisoning|Food Poisonings|Illnesses, Foodborne|Illnesses, Food-borne|Poisoning, Food|Poisonings, Food
D005512||Food Hypersensitivity|Allergies, Food|Allergy, Food|Food Allergies|Food Allergy|Food Hypersensitivities|Hypersensitivities, Food|Hypersensitivity, Food
600740|C537147||Familial benign hypercalcemia, type 3|Familial benign hypercalcemia, Oklahoma variant|Familial Benign Hypercalcemia, Type III|FBH3|HHC3|Hypercalcemia, familial benign, Oklahoma type|Hypercalcemia, familial benign, type 3|Hypercalcemia, Familial Benign, Type III|Hypocalciuric hypercalcemia, familial, type 3|Hypocalciuric Hypercalcemia, Familial, Type III
C566446|610093||Microphthalmia, Isolated 2|ANOPHTHALMIA, CLINICAL, ISOLATED|MCOP2
D034081||Wasting Disease, Chronic|Chronic Wasting Disease
D060446||Phaeohyphomycosis|Cutaneous Phaeohyphomycoses|Cutaneous Phaeohyphomycosis|Phaeohyphomycoses|Phaeohyphomycoses, Cutaneous|Phaeohyphomycoses, Subcutaneous|Phaeohyphomycosis, Cutaneous|Phaeohyphomycosis, Subcutaneous|Subcutaneous Phaeohyphomycoses|Subcutaneous Phaeohyphomycosis
C537686|601349||Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism|MCOPS8|MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM|Microphthalmia, syndromic 8|MMEP
C537111|211530||Brown-Vialetto-Van Laere syndrome|BROWN-VIALETTO-VAN LAERE SYNDROME 1|Bulbar Palsy, Progressive, With Sensorineural Deafness|BVVLS1|Pontobulbar palsy and neurosensory deafness|Pontobulbar Palsy With Deafness|Progressive Bulbar Palsy with Sensorineural Deafness
C564622|607116||Alzheimer Disease 8|AD8|Alzheimer Disease, Familial, 8
D018827||Carcinoma, Lewis Lung|Lewis Lung Carcinoma|Lung Carcinoma, Lewis
611107|C567008||Mental Retardation, Autosomal Recessive 4|MRT4
D046151||Lingual Thyroid|Lingual Thyroids|Thyroid, Lingual|Thyroids, Lingual
D047489||Preconception Injuries|Injuries, Preconception|Injury, Preconception|Preconception Injury
C538112||Hernandez Aguirre-Negrete syndrome|Ehlers-Danlos syndrome with progeroid facies and mild mental retardation|Hern&#225;ndez Aguirre-Negrete syndrome
C538110||Pancreatic adenoma
C538115||Heterochromia iridis|Asymmetry in the pigmentation of the irides|Pigmentary abnormality of the anterior segment of the eye
C537394|243180||Neuronal intestinal pseudoobstruction|Argyrophil myenteric plexus, deficiency of|Intestinal pseudoobstruction due to neuronal disease|Neuronal intestinal dysplasia, type A|Neuronal Intestinal Dysplasia, Type B|NID A, INCLUDED|NID B|Pseudoobstruction, chronic idiopathic intestinal, neuronal type|PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE NEURONAL INTESTINAL DYSPLASIA, TYPE A, INCLUDED|Visceral Neuropathy, Familial, Autosomal Recessive
C538114||Hersh Podruch Weisskopk syndrome|Toluene embryopathy
C538113||Herrmann syndrome|Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
C564461|301220||Pigmentary Disorder, Reticulate, with Systemic Manifestations|Amyloidosis, Familial Cutaneous|PDR
C567681|613255||Cardiomyopathy, Familial Hypertrophic, 15|CMH15
D059466||White Coat Hypertension|Clinic Hypertension, Isolated|Hypertension, Isolated Clinic|Hypertension, White Coat|Isolated Clinic Hypertension|Syndrome, White Coat|White Coat Syndrome
C535941|302950||Chondrodysplasia punctata, brachytelephalangic|Brachytelephalangic Chondrodysplasia Punctata|CDPX1|Chondrodysplasia punctata 1, X-linked recessive|CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC|Chondrodysplasia Punctata, Brachytelephalangic, Autosomal|CPXR
D059468||Masked Hypertension|Hypertension, Masked|Hypertensions, Masked|Masked Hypertensions
C538109||Pancreas agenesis, dorsal|Agenesis of the dorsal pancreas|Pancreas, dorsal, agenesis of
C538107||Palmer Pagon syndrome
C536690|604454||Welander distal myopathy, Swedish type|Distal myopathy, Swedish type|MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT|MYOPATHY, DISTAL, SWEDISH|WDM|WELANDER DISTAL MYOPATHY
C538106||Pallister W syndrome|Median cleft upper lip, mental retardation and pugilistic facies|W syndrome
D006949||Hyperlipidemias|Hyperlipemia|Hyperlipemias|Hyperlipidemia|Lipemia|Lipemias|Lipidemia|Lipidemias
D006947||Hyperkalemia|Hyperkalemias|Hyperpotassemia|Hyperpotassemias
D006948||Hyperkinesis|Generalized Hyperkinesia|Generalized Hyperkinesias|Hyperactivity, Motor|Hyperkinesia|Hyperkinesia, Generalized|Hyperkinesias, Generalized|Hyperkinetic Movement|Hyperkinetic Movements|Motor Hyperactivity|Movement, Hyperkinetic|Movements, Hyperkinetic
D031901||Gestational Trophoblastic Disease|Disease, Gestational Trophoblastic|Diseases, Gestational Trophoblastic|Gestational Trophoblastic Diseases|Gestational Trophoblastic Neoplasia|Gestational Trophoblastic Neoplasm|Gestational Trophoblastic Neoplasms|Neoplasia, Gestational Trophoblastic|Neoplasm, Gestational Trophoblastic|Neoplasms, Gestational Trophoblastic|Trophoblastic Disease, Gestational|Trophoblastic Diseases, Gestational|Trophoblastic Neoplasia, Gestational|Trophoblastic Neoplasm, Gestational|Trophoblastic Neoplasms, Gestational
D006945||Hyperhidrosis
D006946||Hyperinsulinism|Compensatory Hyperinsulinemia|Endogenous Hyperinsulinism|Exogenous Hyperinsulinism|Hyperinsulinemia|Hyperinsulinemia, Compensatory|Hyperinsulinism, Endogenous|Hyperinsulinism, Exogenous
C570377||Benign Pseudohypertrophic Muscular Dystrophy
D005611||Freemartinism
D006943||Hyperglycemia|Hyperglycemia, Postprandial|Hyperglycemias|Hyperglycemias, Postprandial|Postprandial Hyperglycemia|Postprandial Hyperglycemias
D006944||Hyperglycemic Hyperosmolar Nonketotic Coma|Coma, Hyperglycemic Hyperosmolar Nonketotic|Coma, Nonketotic Hyperglycemic|Hyperglycemic Coma, Nonketotic|Hyperosmolar Hyperglycemic Nonketotic Coma|Nonketotic Hyperglycemic Coma
D006941||Hyperesthesia|Hyperesthesias|Hyperesthesias, Tactile|Hyperesthesias, Thermal|Hyperesthesia, Tactile|Hyperesthesia, Thermal|Hyperesthetic Sensation|Hyperesthetic Sensations|Oxyesthesia|Oxyesthesias|Sensation, Hyperesthetic|Sensations, Hyperesthetic|Tactile Hyperesthesia|Tactile Hyperesthesias|Thermal Hyperesthesia|Thermal Hyperesthesias
C562787|176400||Precocious Puberty, Central|CPPB1|PRECOCIOUS PUBERTY, CENTRAL, 1
D006942||Hypergammaglobulinemia|Hypergammaglobulinemias|Hyperimmunoglobulinemia|Hyperimmunoglobulinemias
C537168|120330||Papillorenal syndrome|CAKUT WITH OCULAR ABNORMALITIES|Coloboma of optic nerve with renal disease|Coloboma-Ureteral-Renal Syndrome|CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OCULAR ABNORMALITIES|Optic coloboma, vesicoureteral reflux, and renal anomalies|Optic Nerve Coloboma Renal Syndrome|Optic nerve coloboma with renal disease|PAPRS|Renal-coloboma syndrome|Renal Coloboma Syndrome|Renal-Coloboma Syndrome With Macular Abnormalities|Renal Hypoplasia, Isolated
D006940||Hyperemia|Active Hyperemia|Arterial Hyperemia|Congestion, Venous|Engorgement, Venous|Hyperemia, Active|Hyperemia, Arterial|Hyperemia, Passive|Hyperemia, Reactive|Hyperemias|Hyperemias, Reactive|Passive Hyperemia|Reactive Hyperemia|Reactive Hyperemias|Venous Congestion|Venous Engorgement
D061686||Premature Ejaculation|Ejaculation, Premature|Ejaculations, Premature|Ejaculatio Praecox|Ejaculatio Praecoxs|Praecox, Ejaculatio|Praecoxs, Ejaculatio|Premature Ejaculations
C567470|300716||Mental Retardation, X-Linked 95|MRX95
607053||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2|HDLCQ2
D014897|158600||Spinal Muscular Atrophies of Childhood|Atrophies, Infantile Muscular|Atrophies, Juvenile Muscular|Atrophy, Infantile Muscular|Atrophy, Juvenile Muscular|HMN (Hereditary Motor Neuropathy) Proximal Type I|Hoffman Diseases, Werdnig|Hoffman Disease, Werdnig|Infantile Muscular Atrophies|Infantile Muscular Atrophy|Infantile Spinal Muscular Atrophy|Juvenile Muscular Atrophies|Juvenile Muscular Atrophy|Juvenile Spinal Muscular Atrophy|Kugelberg Welander Disease|Kugelberg-Welander Disease|Kugelberg Welander Syndrome|Kugelberg-Welander Syndrome|KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT|Kugelberg-Welander Syndromes|KWS|Muscular Atrophies, Juvenile|Muscular Atrophy, Infantile|Muscular Atrophy, Juvenile|Muscular Atrophy, Spinal, Infantile|MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM|MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE|Muscular Atrophy, Spinal, Type I|Muscular Atrophy, Spinal, Type II|Muscular Atrophy, Spinal, Type III|Proximal Hereditary Motor Neuropathy Type I|SMA1|SMA2|SMA3|SMA I|SMA II|SMA III|SMA, Infantile Acute Form|SMA-LED|SMALED1|Spinal Muscular Atrophy 1|SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT|Spinal Muscular Atrophy, Infantile|Spinal Muscular Atrophy, Juvenile|SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT|SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT|Spinal Muscular Atrophy, Mild Childhood and Adolescent Form|Spinal Muscular Atrophy Type 2|Spinal Muscular Atrophy, Type 3|Spinal Muscular Atrophy Type I|Spinal Muscular Atrophy, Type I|Spinal Muscular Atrophy Type II|Spinal Muscular Atrophy, Type II|Spinal Muscular Atrophy Type III|Spinal Muscular Atrophy, Type III|Type III Spinal Muscular Atrophy|Type II Spinal Muscular Atrophy|Type I Spinal Muscular Atrophy|Werdnig Hoffman Disease|Werdnig Hoffman Diseases|Werdnig Hoffmann Disease|Werdnig-Hoffmann Disease
D006828|231090||Hydatidiform Mole|CHM|Complete Hydatidiform Mole|Complete Hydatidiform Moles|GESTATIONAL TROPHOBLASTIC DISEASE|HYDATIDIFORM MOLE|Hydatidiform Mole, Complete|Hydatidiform Mole, Partial|HYDATIDIFORM MOLE, RECURRENT, 1|Hydatidiform Moles|Hydatidiform Moles, Complete|Hydatidiform Moles, Partial|Hydatid Mole|Hydatid Moles|HYDM|HYDM1|Molar Pregnancies|Molar Pregnancy|Mole, Complete Hydatidiform|Mole, Hydatid|Mole, Hydatidiform|Mole, Partial Hydatidiform|Moles, Complete Hydatidiform|Moles, Hydatid|Moles, Hydatidiform|Moles, Partial Hydatidiform|Partial Hydatidiform Mole|Partial Hydatidiform Moles|Pregnancies, Molar|Pregnancy, Molar
D006210|234100||Hallermann&apos;s Syndrome|Dyscephalic Syndrome, Francois|Dyscephalic Syndromes, Francois|Francois Dyscephalic Syndrome|Francois Dyscephalic Syndromes|Hallermanns Syndrome|Hallermann Streiff Francois Syndrome|Hallermann Streiff Syndrome|Hallermann-Streiff Syndrome|Hallermann Syndrome|HSS|Syndrome, Francois Dyscephalic|Syndrome, Hallermann&apos;s|Syndrome, Hallermann-Streiff|Syndromes, Francois Dyscephalic
D059352||Musculoskeletal Pain|Musculoskeletal Pains|Pain, Musculoskeletal|Pains, Musculoskeletal
178300|C566737||Ptosis, Hereditary Congenital 1|PTOS1
D018921||Leukostasis|Leukostases|Leukostasis Syndrome|Leukostasis Syndromes|Syndrome, Leukostasis|Syndromes, Leukostasis
C566429|602685||Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration|MRST
D018923||Persian Gulf Syndrome|Gulf War Syndrome|Syndrome, Gulf War|Syndrome, Persian Gulf
C535414|608591||Charcot-Marie-Tooth disease, Type 2G|Charcot-Marie-Tooth disease, axonal, Type 2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth Neuropathy, Type 2g|Cmt2g|CMT 2G
C564706|606451||Deafness, Autosomal Dominant 30|DFNA30
D006959||Hyperoxaluria|Oxalosis|Oxaluria
D006956||Hyperopia|Farsightedness|Hypermetropia
D005627||Frostbite|Frostbites
D006957||Hyperostosis Frontalis Interna|Leontiasis Ossium|Morgagni Stewart Morel Syndrome|Morgagni-Stewart-Morel Syndrome|Syndrome, Morgagni-Stewart-Morel
D005621||Friedreich Ataxia|Ataxia, Friedreich|Ataxia, Friedreich Familial|Ataxia, Friedreich Hereditary|Ataxia, Friedreich&apos;s|Ataxia, Friedreich&apos;s Familial|Ataxia, Friedreich&apos;s Hereditary|Ataxia, Friedreich Spinocerebellar|Ataxias, Friedreich|Ataxias, Friedreich&apos;s Hereditary|Disease, Friedreich|Disease, Friedreich&apos;s|Familial Ataxia, Friedreich|Familial Ataxia, Friedreich&apos;s|Friedreich Ataxias|Friedreich Disease|Friedreich Familial Ataxia|Friedreich Hereditary Ataxia|Friedreich Hereditary Spinal Ataxia|Friedreich&apos;s Ataxia|Friedreich&apos;s Disease|Friedreich&apos;s Familial Ataxia|Friedreichs Familial Ataxia|Friedreich&apos;s Hereditary Ataxia|Friedreichs Hereditary Ataxia|Friedreich&apos;s Hereditary Ataxias|Friedreich&apos;s Hereditary Spinal Ataxia|Friedreich Spinocerebellar Ataxia|Hereditary Ataxia, Friedreich|Hereditary Ataxia, Friedreich&apos;s|Hereditary Ataxias, Friedreich&apos;s|Hereditary Spinal Ataxia, Friedreich|Hereditary Spinal Ataxia, Friedreich&apos;s|Hereditary Spinal Scleroses|Hereditary Spinal Sclerosis|Scleroses, Hereditary Spinal|Sclerosis, Hereditary Spinal|Spinal Scleroses, Hereditary|Spinal Sclerosis, Hereditary|Spinocerebellar Ataxia, Friedreich
D006955||Hypernatremia|Hypernatremias
D059373||Mastodynia|Breast Pain|Breast Pains|Mammalgia|Mammalgias|Mastalgia|Mastalgias|Mastodynias|Pain, Breast|Pains, Breast
D006952||Hyperlipoproteinemia Type III|Broad Beta Disease|Broad-beta Hyperlipoproteinemia|Dysbetalipoproteinemia|Dysbetalipoproteinemia, Familial|Familial Dysbetalipoproteinemia|Familial Hypercholesterolemia with Hyperlipemia|Hyperlipoproteinemia, Broad beta|Hyperlipoproteinemia, Broad-beta|Hyperlipoproteinemias, Type III|Hyperlipoproteinemia, Type III|Type III Hyperlipoproteinemia|Type III Hyperlipoproteinemias
C566470|610478||Retinal Cone Dystrophy 4|RCD4
D006951||Hyperlipoproteinemias|Hyperlipoproteinemia
C563881|608664||Seckel Syndrome 3|SCKL3
D059369||Pott Puffy Tumor|Pott&apos;s Puffy Tumor|Potts Puffy Tumor|Puffy Tumor, Pott|Puffy Tumor, Pott&apos;s|Tumor, Pott Puffy|Tumor, Pott&apos;s Puffy
D059366||Asthma, Occupational|Asthmas, Occupational|Occupational Asthma|Occupational Asthmas
C565344|605289||Split-Hand/Foot Malformation 4|SHFM4
D017600||Neuroectodermal Tumor, Melanotic|Anlage Tumor, Retinal|Anlage Tumors, Retinal|Melanoameloblastoma|Melanoameloblastomas|Melanotic Neuroectodermal Tumor|Melanotic Neuroectodermal Tumors|Melanotic Progonoma|Melanotic Progonomas|Neuroectodermal Tumors, Melanotic|Progonoma, Melanotic|Progonomas, Melanotic|Retinal Anlage Tumor|Retinal Anlage Tumors|Tumor, Melanotic Neuroectodermal|Tumor, Retinal Anlage|Tumors, Melanotic Neuroectodermal|Tumors, Retinal Anlage
D018934||Fournier Gangrene|Fournier Disease|Fournier&apos;s Disease|Fourniers Disease|Fournier&apos;s Gangrene|Fourniers Gangrene|Gangrene, Fournier|Gangrene, Fournier&apos;s
D006929||Hyperaldosteronism|Aldosteronism|Conn&apos;s Syndrome|Conns Syndrome|Conn Syndrome|Hyperaldosteronism, Primary|Primary Hyperaldosteronism|Syndrome, Conn|Syndrome, Conn&apos;s
C538329|600737||Inclusion body myopathy autosomal recessive|IBM2|Inclusion body myopathy 2, autosomal recessive|Inclusion Body Myopathy, Autosomal Recessive|Inclusion body myopathy quadriceps sparing|Inclusion Body Myopathy, Quadriceps-Sparing|QSM
D006925||Hymenolepiasis|Hymenolepiases|Hymenolepis Infection|Hymenolepis Infections|Infection, Hymenolepis|Infections, Hymenolepis
D010192||Pancreatic Pseudocyst|Pancreatic Pseudocysts|Pseudocyst, Pancreatic|Pseudocysts, Pancreatic
D034161||Pelvic Infection|Infection, Pelvic|Infections, Pelvic|Pelvic Infections
C567505|611880||Cardiomyopathy, Dilated, 2a|CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE|CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE|CMD2A
C565223|609815||Zygodactyly 1|ZD1
D060368||Lobomycosis|Blastomycoses, Keloidal|Blastomycosis, Keloidal|Disease, Jorge Lobo|Disease, Jorge Lobo&apos;s|Jorge Lobo Disease|Jorge Lobo&apos;s Disease|Jorge Lobos Disease|Keloidal Blastomycoses|Keloidal Blastomycosis|Lacazioses|Lacaziosis|Lobomycoses
D018908||Muscle Weakness|Muscle Weaknesses|Muscular Weakness|Muscular Weaknesses|Weaknesses, Muscle|Weaknesses, Muscular|Weakness, Muscle|Weakness, Muscular
300537|C564492||Heterotopia, Periventricular, Ehlers-Danlos Variant|Periventricular Nodular Heterotopia 4|PVNH4
D018902||Chondrodysplasia Punctata, Rhizomelic|Chondrodysplasia Punctata, Rhizomelic Form|Chondrodysplasia Punctatas, Rhizomelic|Punctata, Rhizomelic Chondrodysplasia|Punctatas, Rhizomelic Chondrodysplasia|Rhizomelic Chondrodysplasia Punctata|Rhizomelic Chondrodysplasia Punctatas
D010182||Pancreatic Diseases|Disease, Pancreatic|Diseases, Pancreatic|Pancreatic Disease
D018901||Peroxisomal Disorders|Acidemia, Hyperpipecolic|Acidemias, Hyperpipecolic|Adrenoleukodystrophies, Neonatal|Adrenoleukodystrophy, Autosomal Neonatal Form|Adrenoleukodystrophy, Autosomal, Neonatal Form|Adrenoleukodystrophy, Neonatal|Dysfunction, General Peroxisomal|Dysfunction, Multiple Peroxisomal|Dysfunctions, General Peroxisomal|Dysfunction, Single Peroxisomal|Dysfunctions, Multiple Peroxisomal|Dysfunctions, Single Peroxisomal|General Peroxisomal Dysfunction|General Peroxisomal Dysfunctions|Hyperpipecolatemia|Hyperpipecolic Acidemia|Hyperpipecolic Acidemias|Multiple Peroxisomal Dysfunction|Multiple Peroxisomal Dysfunctions|Neonatal Adrenoleukodystrophies|Neonatal Adrenoleukodystrophy|Peroxisomal Disorder|Peroxisomal Dysfunction, General|Peroxisomal Dysfunction, Multiple|Peroxisomal Dysfunctions, General|Peroxisomal Dysfunction, Single|Peroxisomal Dysfunctions, Multiple|Peroxisomal Dysfunctions, Single|Single Peroxisomal Dysfunction|Single Peroxisomal Dysfunctions
D010185||Pancreatic Fistula|Fistula, Pancreatic|Fistulas, Pancreatic|Pancreatic Fistulas
300581|C564480||Fg Syndrome 5|FGS5
D010188||Exocrine Pancreatic Insufficiency|Exocrine Pancreatic Insufficiencies|Insufficiencies, Exocrine Pancreatic|Insufficiencies, Pancreatic|Insufficiency, Exocrine Pancreatic|Insufficiency, Pancreatic|Pancreatic Insufficiencies|Pancreatic Insufficiencies, Exocrine|Pancreatic Insufficiency|Pancreatic Insufficiency, Exocrine
167200|D053549||Pachyonychia Congenita|Congenital Pachyonychia|Congenital Pachyonychias|Congenita, Pachyonychia|Congenita Syndrome, Pachyonychia|Congenita Syndromes, Pachyonychia|Jackson-Lawler Syndrome (Pc-2)|Jackson Lawler Type Pachyonychia Congenita|Jackson-Lawler Type Pachyonychia Congenita|Jadassohn-Lewandowski Syndrome (Pc-1)|Jadassohn Lewandowsky Syndrome|Jadassohn-Lewandowsky Syndrome|JADASSOHN-LEWANDOWSKY SYNDROME, FORMERLY|PACHYONYCHIA CONGENITA 1|PACHYONYCHIA CONGENITA 2|Pachyonychia Congenita Jackson Lawler Type|Pachyonychia Congenita, Jackson Lawler Type|Pachyonychia Congenita, Jackson-Lawler Type|PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE, FORMERLY|Pachyonychia Congenita, Jadassohn Lewandowsky Type|Pachyonychia Congenita, Jadassohn-Lewandowsky Type|PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE, FORMERLY|Pachyonychia, Congenital|Pachyonychia Congenita Syndrome|Pachyonychia Congenita Syndromes|Pachyonychia Congenita Tarda, Type 1|Pachyonychia Congenita Type 1|Pachyonychia Congenita, Type 1|Pachyonychia Congenita, Type 2|Pachyonychias, Congenital|PC1|PC2|Syndrome, Pachyonychia Congenita|Syndromes, Pachyonychia Congenita|Type 1 Pachyonychia Congenita|Type 2 Pachyonychia Congenita
D006939||Hyperemesis Gravidarum|Pernicious Vomiting of Pregnancy|Pregnancy Pernicious Vomiting
D006936||Hypercementosis|Hypercementoses
D006937||Hypercholesterolemia|Elevated Cholesterol|Hypercholesteremia|Hypercholesteremias|Hypercholesterolemias
D006934||Hypercalcemia|Hypercalcemias|Milk Alkali Syndrome|Milk-Alkali Syndrome|Syndrome, Milk-Alkali
D006935||Hypercapnia
D006932||Hyperbilirubinemia|Bilirubinemia|Bilirubinemias|Hyperbilirubinemias
D006933||Hyperbilirubinemia, Hereditary|Hereditary Hyperbilirubinemia|Hereditary Hyperbilirubinemias|Hyperbilirubinemia, Rotor Type|Hyperbilirubinemias, Hereditary|Rotor Syndrome|Rotor Type Hyperbilirubinemia|Syndrome, Rotor
D006930||Hyperalgesia|Allodynia|Allodynia, Mechanical|Allodynias, Mechanical|Allodynias, Tactile|Allodynias, Thermal|Allodynia, Tactile|Allodynia, Thermal|Hyperalgesia, Mechanical|Hyperalgesia, Primary|Hyperalgesias|Hyperalgesia, Secondary|Hyperalgesias, Mechanical|Hyperalgesias, Primary|Hyperalgesias, Secondary|Hyperalgesias, Tactile|Hyperalgesias, Thermal|Hyperalgesia, Tactile|Hyperalgesia, Thermal|Hyperalgesic Sensations|Mechanical Allodynia|Mechanical Hyperalgesia|Tactile Allodynia|Thermal Allodynia|Thermal Hyperalgesia
D059390||Breakthrough Pain|Breakthrough Pains|Pain, Breakthrough|Pains, Breakthrough
D018917||Optic Neuropathy, Ischemic|Anterior Ischemic Optic Neuropathy|Ischemia, Optic Nerve|Ischemias, Optic Nerve|Ischemic Optic Neuropathies|Ischemic Optic Neuropathy|Nerve Ischemia, Optic|Nerve Ischemias, Optic|Neuropathies, Ischemic Optic|Neuropathy, Ischemic Optic|Optic Nerve Ischemia|Optic Nerve Ischemias|Optic Neuropathies, Ischemic|Optic Neuropathy, Anterior Ischemic|Optic Neuropathy, Posterior Ischemic|Posterior Ischemic Optic Neuropathy
201750||ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS|ABS1
234050|D054463||Trichothiodystrophy Syndromes|ABHS|Amish Brittle Hair Brain Syndrome|Amish Brittle Hair Syndrome|BIDS Syndrome|BIDS Syndromes|Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome|Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome|Hair Brain Syndrome|Hair-Brain Syndrome|Hair-Brain Syndromes|IBIDS Syndrome|IBIDS Syndromes|Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation|Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature|Nonphotosensitive 1 Trichothiodystrophies|Nonphotosensitive 1 Trichothiodystrophy|Photosensitive Trichothiodystrophies|Photosensitive Trichothiodystrophy|PIBIDS Syndrome|PIBIDS Syndromes|Tay Syndrome|Trichothiodystrophies|Trichothiodystrophies, Nonphotosensitive 1|Trichothiodystrophies, Photosensitive|Trichothiodystrophy|Trichothiodystrophy, Nonphotosensitive 1|Trichothiodystrophy, Photosensitive|Trichothiodystrophy Syndrome|Trichothiodystrophy with Congenital Ichtyosis|TTDN1
D034141||Hypoalbuminemia
D059388||Pelvic Girdle Pain|Dysfunctions, Symphysis Pubis|Dysfunction, Symphysis Pubis|Girdle Pain, Pelvic|Girdle Pains, Pelvic|Pain, Pelvic Girdle|Pains, Pelvic Girdle|Pelvic Girdle Pains|Pubis Dysfunctions, Symphysis|Pubis Dysfunction, Symphysis|Symphysis Pubis Dysfunction|Symphysis Pubis Dysfunctions
C563461|255110||Carnitine Palmitoyltransferase II Deficiency, Late-Onset|Carnitine Palmitoyltransferase II Deficiency, Adult-Onset|Carnitine Palmitoyltransferase II Deficiency, Myopathic|CPT2 Deficiency, Late-Onset|CPT II Deficiency, Myopathic
D010195||Pancreatitis|Pancreatitides
D010198||Pancytopenia|Pancytopenias
C535461|603523||Chylothorax, congenital|Hydrothorax, Congenital
C536409|601634||Neural tube defect, folate-sensitive|Neural Tube Defects, Folate-Sensitive|NTD, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE, INCLUDED
D046088||Hearing Loss, Unilateral|Unilateral Hearing Loss
609060|C563797||Combined Oxidative Phosphorylation Deficiency 1|COXPD1|Hepatoencephalopathy, Early Fatal Progressive
D046089||Hearing Loss, Mixed Conductive-Sensorineural|Hearing Loss, Mixed|Hearing Loss, Mixed Conductive Sensorineural|Losses, Mixed Hearing|Loss, Mixed Hearing|Mixed Hearing Loss
108420||SPERMATOGENIC FAILURE 2|ASG|ASPERMIOGENESIS FACTOR|SPGF2
D058070||Asymptomatic Diseases|Asymptomatic Condition|Asymptomatic Conditions|Asymptomatic Disease|Asymptomatic State|Asymptomatic States|Condition, Asymptomatic|Conditions, Asymptomatic|Disease, Asymptomatic|Disease, Presymptomatic|Disease, Pre-Symptomatic|Diseases, Asymptomatic|Diseases, Presymptomatic|Diseases, Pre-Symptomatic|Presymptomatic Disease|Pre-Symptomatic Disease|Presymptomatic Diseases|Pre-Symptomatic Diseases
D058069||Neglected Diseases|Disease, Neglected|Diseases, Neglected|Neglected Disease
142945|C564181||Holoprosencephaly 3|HLP3|HPE3
D009188||Myelitis, Transverse|Acute Transverse Myelitis|Demyelinative Myelitis|Myelitides, Subacute Transverse|Myelitis, Acute Transverse|Myelitis, Demyelinative|Myelitis, Necrotizing|Myelitis, Paraneoplastic|Myelitis, Postinfectious|Myelitis, Postvaccinal|Myelitis, Subacute Transverse|Necrotizing Myelitis|Paraneoplastic Myelitis|Postinfectious Myelitis|Postvaccinal Myelitis|Subacute Transverse Myelitis|Transverse Myelitis|Transverse Myelitis, Acute|Transverse Myelitis, Subacute|Transverse Myelopathy Syndrome|Transverse Myelopathy Syndromes
D058066||Digital Dermatitis|Bovine Digital Dermatitides|Bovine Digital Dermatitis|Bovine Foot Wart|Bovine Foot Warts|Bovine Hairy Footwart|Bovine Hairy Footwarts|Dermatitides, Bovine Digital|Dermatitides, Digital|Dermatitis, Bovine Digital|Dermatitis, Digital|Digital Dermatitides|Digital Dermatitides, Bovine|Digital Dermatitides, Ovine|Digital Dermatitides, Papillomatous|Digital Dermatitis, Bovine|Digital Dermatitis, Ovine|Digital Dermatitis, Papillomatous|Digital Papillomatoses|Digital Papillomatosis|Foot Wart, Bovine|Footwart, Bovine Hairy|Foot Warts, Bovine|Footwarts, Bovine Hairy|Hairy Footwart, Bovine|Hairy Footwarts, Bovine|Ovine Digital Dermatitides|Ovine Digital Dermatitis|Papillomatoses, Digital|Papillomatosis, Digital|Papillomatous Digital Dermatitides|Papillomatous Digital Dermatitis|Wart, Bovine Foot|Warts, Bovine Foot
D009187||Myelitis|Infectious Myelitis|Inflammation, Spinal Cord|Inflammations, Spinal Cord|Inflammatory Myelopathies|Inflammatory Myelopathy|Myelitides|Myelitis, Infectious|Myelitis, Subacute Necrotising|Myelopathies, Inflammatory|Myelopathy, Inflammatory|Necrotising Myelitis, Subacute|Spinal Cord Inflammation|Spinal Cord Inflammations|Subacute Necrotising Myelitis
D058065||Diabetic Cardiomyopathies|Cardiomyopathies, Diabetic|Cardiomyopathy, Diabetic|Diabetic Cardiomyopathy
D009182||Mycosis Fungoides
D009181||Mycoses|Disease, Fungus|Diseases, Fungus|Fungus Disease|Fungus Diseases
D009180||Mycoplasmatales Infections|Infection, Mycoplasmatales|Infections, Mycoplasmatales|Mycoplasmatales Infection
D010167||Pallor|Pallors
C565832|603964||Deafness, Autosomal Dominant 16|DFNA16
D010181||Pancreatic Cyst|Cyst, Pancreatic|Cysts, Pancreatic|Pancreatic Cysts
610644||PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL|PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, INCLUDED
267010|C537756||Renal hepatic pancreatic dysplasia Dandy Walker cyst|Goldston syndrome|Meckel like syndrome|Meckel-Like Syndrome|MECKEL SYNDROME, TYPE 7|MKS7|Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst
D009198||Myiasis|Infestation, Maggot|Infestations, Maggot|Maggot Infestation|Maggot Infestations|Myiases
D009196||Myeloproliferative Disorders|Disorder, Myeloproliferative|Disorders, Myeloproliferative|Myeloproliferative Disorder
D009190||Myelodysplastic Syndromes|Dysmyelopoietic Syndrome|Dysmyelopoietic Syndromes|Hematopoetic Myelodysplasia|Hematopoetic Myelodysplasias|Myelodysplasia, Hematopoetic|Myelodysplasias, Hematopoetic|Myelodysplastic Syndrome|Syndrome, Dysmyelopoietic|Syndrome, Myelodysplastic|Syndromes, Dysmyelopoietic|Syndromes, Myelodysplastic
C536841|604218||Familial encephalopathy with neuroserpin inclusion bodies|Encephalopathy, familial, with Collins bodies|Encephalopathy, Familial, With Neuroserpin Inclusion Bodies|Familial Dementia with Neuroserpin Inclusion Bodies|FENIB
D010178||Pancoast Syndrome|Pancoast&apos;s Syndrome|Pancoasts Syndrome|Pancoast Tumor|Syndrome, Pancoast|Syndrome, Pancoast&apos;s|Tumor, Pancoast
600634|D015175||Prolactinoma|Adenoma, Lactotroph|Adenoma, Prolactin-Secreting, Pituitary|Adenomas, Lactotroph|Lactotroph Adenoma|Lactotroph Adenomas|Macroprolactinoma|Macroprolactinomas|Microprolactinoma|Microprolactinomas|Pituitary Adenoma, PRL-Secreting|Pituitary Adenoma, Prolactin-Producing|Pituitary Adenoma, Prolactin Secreting|Pituitary Adenoma, Prolactin-Secreting|Pituitary Adenomas, PRL-Secreting|Pituitary Adenomas, Prolactin-Producing|Pituitary Adenomas, Prolactin-Secreting|PRL Secreting Pituitary Adenoma|PRL-Secreting Pituitary Adenoma|PRL-Secreting Pituitary Adenomas|Prolactinoma, Familial|Prolactinomas|Prolactin Producing Pituitary Adenoma|Prolactin-Producing Pituitary Adenoma|Prolactin-Producing Pituitary Adenomas|Prolactin Secreting Pituitary Adenoma|Prolactin-Secreting Pituitary Adenoma|Prolactin-Secreting Pituitary Adenomas
109730||AORTIC VALVE DISEASE 1|AORTIC STENOSIS, CALCIFIC|AORTIC VALVE, BICUSPID|AORTIC VALVE, CALCIFICATION OF|AORTIC VALVE DISEASE|AOVD1|BAV|BICUSPID AORTIC VALVE
608415|C564243||Prolonged Electroretinal Response Suppression|Bradyopsia|PERRS
C567932|300000||Opitz GBBB Syndrome, X-Linked|BBBG1|GGGB1|HYPERTELORISM-HYPOSPADIAS SYNDROME|HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS|OGS1|Opitz BBBG Syndrome, Type I|Opitz GBBB Syndrome, Type I|Opitz-G Syndrome, Type I|Opitz Syndrome|Opitz Syndrome, X-Linked|OS|OSX|TELECANTHUS-HYPOSPADIAS SYNDROME|X-Linked Opitz Syndrome (XLOS)
D010146||Pain|Ache|Aches|Burning Pain|Burning Pains|Crushing Pain|Crushing Pains|Migratory Pain|Migratory Pains|Pain, Burning|Pain, Crushing|Pain, Migratory|Pain, Radiating|Pains, Burning|Pains, Crushing|Pains, Migratory|Pain, Splitting|Pains, Radiating|Pains, Splitting|Physical Suffering|Physical Sufferings|Radiating Pain|Radiating Pains|Splitting Pain|Splitting Pains|Suffering, Physical|Sufferings, Physical
D010149||Pain, Postoperative|Postoperative Pain|Postoperative Pains
C567448|611958||Prostate Cancer, Hereditary, 14|HPC14
D010148||Pain, Intractable|Intractable Pain|Intractable Pains|Pain, Refractory|Pains, Intractable|Pains, Refractory|Refractory Pain|Refractory Pains
D009164||Mycobacterium Infections|Infection, Mycobacterium|Infections, Mycobacterium|Mycobacterium Infection
D011470||Prostatic Hyperplasia|Adenoma, Prostatic|Adenomas, Prostatic|Benign Prostatic Hyperplasia|Benign Prostatic Hypertrophy|Hyperplasia, Prostatic|Hypertrophy, Benign Prostatic|Prostatic Adenoma|Prostatic Adenomas|Prostatic Hyperplasia, Benign|Prostatic Hypertrophy|Prostatic Hypertrophy, Benign
C537592|610738||Neutropenia, Severe Congenital, Autosomal Recessive 3|Agranulocytosis, Infantile|Agranulocytosis, infantile genetic|Autosomal dominant or sporadic congenital neutropenia|Congenital Agranulocytosis|Congenital Neutropenia|Infantile genetic agranulocytosis|Kostmann disease|Kostmann&apos;s Agranulocytosis|Kostmann&apos;s Syndrome|Kostmann syndrome|NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE|SCN3|Severe congenital neutropenia|Severe Infantile Genetic Neutropenia
D011472||Prostatitis|Acute Bacterial Prostatitides|Acute Bacterial Prostatitis|Asymptomatic Inflammatory Prostatitides|Asymptomatic Inflammatory Prostatitis|Bacterial Prostatitides, Acute|Bacterial Prostatitides, Chronic|Bacterial Prostatitis, Acute|Bacterial Prostatitis, Chronic|Chronic Bacterial Prostatitides|Chronic Bacterial Prostatitis|Chronic Prostatitis with Chronic Pelvic Pain Syndrome|Inflammatory Prostatitis, Asymptomatic|Prostatitides|Prostatitides, Chronic Bacterial
D010145||Paget Disease, Extramammary|Extramammary Paget Disease|Extramammary, Paget Disease|Extra Mammary Paget Disease|Extra-Mammary Paget Disease|Extramammary Paget&apos;s Disease|Extramammary Pagets Disease|Extra Mammary Paget&apos;s Disease|Extra-Mammary Paget&apos;s Disease|Extra-Mammary Pagets Disease|Paget Disease Extramammary|Paget Disease, Extra Mammary|Paget Disease, Extra-Mammary|Paget&apos;s Disease, Extramammary|Pagets Disease, Extramammary|Paget&apos;s Disease, Extra Mammary|Paget&apos;s Disease, Extra-Mammary|Pagets Disease, Extra-Mammary
D011475||Prosthesis Failure|Durabilities, Prosthesis|Durability, Prosthesis|Failure, Prosthesis|Failures, Prosthesis|Loosening, Prosthesis|Loosenings, Prosthesis|Migration, Prosthesis|Migrations, Prosthesis|Prosthesis Durabilities|Prosthesis Durability|Prosthesis Failures|Prosthesis Loosening|Prosthesis Loosenings|Prosthesis Migration|Prosthesis Migrations|Prosthesis Survival|Prosthesis Survivals|Survival, Prosthesis|Survivals, Prosthesis
D010144||Paget&apos;s Disease, Mammary|Disease, Mammary Paget|Disease, Mammary Paget&apos;s|Mammary Paget Disease|Mammary Paget&apos;s Disease|Mammary Pagets Disease|Paget Disease, Breast|Paget Disease, Mammary|Paget Disease of Breast|Pagets Disease, Breast|Pagets Disease, Mammary|Paget&apos;s Disease of Breast|Paget&apos;s Disease of the Breast|Paget&apos;s Disease of the Nipple|Paget&apos;s Disease of the Nipple and Areola
D022125||Lacerations|Laceration
607483|C537658||Basal ganglia disease, biotin-responsive|BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE|BBGD|Biotin-responsive basal ganglia disease|ENCEPHALOPATHY, THIAMINE-RESPONSIVE|THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)|THMD2
C563761|609256||Myopia 7|MYP7
612587|C567237||Aneurysm, Intracranial Berry, 10|ANIB10
D006850|236690||Hydrocephalus, Normal Pressure|Hakim&apos;s Syndrome|Hakims Syndrome|Hakim&apos;s Syndromes|Hakim Syndrome|Hakim Syndromes|Hydrocephalus, Normal-Pressure|Normal Pressure Hydrocephalus|NPH (Normal Pressure Hydrocephalus)|NPHs (Normal Pressure Hydrocephalus)|Syndrome, Hakim|Syndrome, Hakim&apos;s|Syndromes, Hakim|Syndromes, Hakim&apos;s
D022124||Hyperammonemia
D011488||Protein Deficiency|Deficiencies, Protein|Deficiency, Protein|Protein Deficiencies
D010157||Palatal Neoplasms|Neoplasm, Palatal|Neoplasms, Palatal|Palatal Neoplasm
611960||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7|ASRT7
D009175||Mycoplasma Infections|Eperythrozoonoses|Eperythrozoonosis|Infection, Mycoplasma|Infections, Mycoplasma|Mycoplasma Infection
607778|C564334||Acrocapitofemoral Dysplasia|ACFD
C536850|175780||Familial porencephaly|ADT1P|Autosomal Dominant Porencephaly Type 1|Familial porencephalic white matter disease|Hemiplegia, infantile, with porencephaly|HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1|Infantile Hemiplegia with Porencephaly|POREN1|PORENCEPHALY 1|Porencephaly, Familial|Porencephaly Type 1|Porencephaly, Type 1|Porencephaly, Type 1, Autosomal Dominant|T1P
C548084|613224||Noonan Syndrome 6|NS6
C567215|612643||Deafness, Autosomal Dominant 3B|DFNA3B
D054508||Acute Radiation Syndrome|Acute Radiation Syndromes|Radiation Syndrome, Acute|Radiation Syndromes, Acute
D054506||Chloracne|Acne, Chlorine|Acnes, Chlorine|Chloracnes|Chlorine Acne|Chlorine Acnes
C565359|605115||Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
D009139||Musculoskeletal Abnormalities|Abnormalities, Musculoskeletal|Abnormality, Musculoskeletal|Musculoskeletal Abnormality
129500|D004476||Ectodermal Dysplasia|Anhidrotic Ectodermal Dysplasia|Anhidrotic, Ectodermal Dysplasia|Anhidrotic Ectodermal Dysplasias|Anhidrotics, Ectodermal Dysplasia|Anhydrotic Ectodermal Dysplasia|Anhydrotic Ectodermal Dysplasias|Aplasia Cutis Congenita|Aplasia Cutis Congenita, Nonsyndromic|Autosomal Dominant Hidrotic Ectodermal Dysplasia|Clouston Hidrotic Ectodermal Dysplasia|Clouston&apos;s Hidrotic Ectodermal Dysplasia|Clouston&apos;s Syndrome|Cloustons Syndrome|Clouston Syndrome|Congenital Ectodermal Defect|Congenital Ectodermal Defects|Defect, Congenital Ectodermal|Defects, Congenital Ectodermal|Dysplasia Anhidrotic, Ectodermal|Dysplasia, Anhidrotic Ectodermal|Dysplasia Anhidrotics, Ectodermal|Dysplasia, Anhydrotic Ectodermal|Dysplasia, Ectodermal|Dysplasia, Hidrotic Ectodermal|Dysplasia, Hydrotic Ectodermal|Dysplasias, Anhidrotic Ectodermal|Dysplasias, Anhydrotic Ectodermal|Dysplasias, Ectodermal|Dysplasias, Hidrotic Ectodermal|Dysplasias, Hydrotic Ectodermal|ECTD2|Ectodermal Defect, Congenital|Ectodermal Defects, Congenital|ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE|Ectodermal Dysplasia 2, Hidrotic|Ectodermal Dysplasia Anhidrotic|Ectodermal Dysplasia, Anhidrotic|Ectodermal Dysplasia, Anhydrotic|Ectodermal Dysplasia, Hidrotic|ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY|Ectodermal Dysplasia, Hidrotic, Autosomal Dominant|Ectodermal Dysplasia, Hydrotic|Ectodermal Dysplasias|Ectodermal Dysplasias, Anhidrotic|Ectodermal Dysplasias, Anhydrotic|Ectodermal Dysplasias, Hydrotic|HED2, FORMERLY|Hidrotic Ectodermal Dysplasia|Hidrotic Ectodermal Dysplasia, Autosomal Dominant|Hidrotic Ectodermal Dysplasias|Hydrotic Ectodermal Dysplasia|Hydrotic Ectodermal Dysplasias|Syndrome, Clouston|Syndrome, Clouston&apos;s
D009137||Muscular Dystrophy, Animal|Animal Muscular Dystrophies|Animal Muscular Dystrophy|Dystrophies, Animal Muscular|Dystrophy, Animal Muscular|Muscular Dystrophies, Animal
D009145||Mushroom Poisoning|Mushroom Poisonings|Poisoning, Mushroom|Poisonings, Mushroom
C567373|612274||Ciliary Dyskinesia, Primary, 8|CILD8|Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus
D055653|158320||Muir-Torre Syndrome|CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS|MRTES|Muir Torre Syndrome|Syndrome, Muir-Torre
120100||FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1|CAPS1|COLD HYPERSENSITIVITY|COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL|COLD URTICARIA, FAMILIAL|CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1|FCAS|FCAS1|FCU
D009140||Musculoskeletal Diseases|Disease, Musculoskeletal|Diseases, Musculoskeletal|Musculoskeletal Disease
C535699|601888||Malignant hyperthermia susceptibility type 6|Malignant hyperpyrexia susceptibility type 6|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6|MHS6
252150|C535811||Molybdenum cofactor deficiency|MOCODA|MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A|SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
D012784||Shoulder Fractures|Fracture, Proximal Humeral|Fracture, Shoulder|Fractures, Proximal Humeral|Fractures, Shoulder|Humeral Fracture, Proximal|Humeral Fractures, Proximal|Proximal Humeral Fracture|Proximal Humeral Fractures|Shoulder Fracture
D010123||Oxyuriasis|Aspiculariases|Aspiculariasis|Oxyuriases
D012783||Shoulder Dislocation|Dislocation, Glenohumeral|Dislocations, Glenohumeral|Dislocation, Shoulder|Dislocations, Shoulder|Glenohumeral Dislocation|Glenohumeral Dislocations|Glenohumeral Subluxation|Glenohumeral Subluxations|Shoulder Dislocations|Subluxation, Glenohumeral|Subluxations, Glenohumeral
239500|C538384||Hyperprolinemia|HPI|Hyperprolinemia type 1|Hyperprolinemia, Type I|Proline hydrogenase deficiency|Prolinemia|Proline oxidase deficiency|Pyrroline-5-Carboxylate Dehydrogenase Deficiency|Pyrroline Carboxylate Dehydrogenase Deficiency
132100||PHOTOPAROXYSMAL RESPONSE 1|EPILEPSY, PHOTOGENIC|PHOTOCONVULSIVE REACTION|PHOTOSENSITIVITY|PPR|PPR1
D054517||Orbital Cellulitis|Cellulitides, Orbital|Cellulitis, Orbital|Orbital Cellulitides
225753||PONTOCEREBELLAR HYPOPLASIA, TYPE 4|ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA|PCH4
C563677|610357||Spastic Paraplegia 30, Autosomal Recessive|SPG30
D009157||Myasthenia Gravis|Generalized Myasthenia Gravis|Myasthenia Gravis, Generalized|Myasthenia Gravis, Ocular|Ocular Myasthenia Gravis
D012797||Sialometaplasia, Necrotizing|Necrotizing Sialometaplasia|Necrotizing Sialometaplasias|Sialometaplasias, Necrotizing
C537449|300218||Mental retardation X-linked syndromic 7|Ahmad X-linked Mental retardation syndrome|Mental Retardation, X-Linked, Syndromic 7|Mrxs7
D011469||Prostatic Diseases|Disease, Prostatic|Diseases, Prostatic|Prostatic Disease
C565274|605934||Holoprosencephaly 6|HPE6
D012798||Sialorrhea|Drooling|Hypersalivation
D009155||Mutism|Aphasia, Kussmaul|Aphasia, Kussmaul&apos;s|Conversion Mutism|Conversion Mutisms|Elective Mutism|Elective Mutisms|Kussmaul Aphasia|Kussmaul&apos;s Aphasia|Kussmauls Aphasia|Mutism, Conversion|Mutism, Elective|Mutism, Organic|Mutisms|Mutisms, Conversion|Mutisms, Elective|Mutism, Selective|Mutisms, Organic|Mutisms, Voluntary|Mutism, Voluntary|Organic Mutism|Organic Mutisms|Selective Mutism|Voluntary Mutism|Voluntary Mutisms
D005199|227650||Fanconi Anemia|Anemia, Fanconi|Anemia, Fanconi&apos;s|Anemias, Fanconi|ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA, INCLUDED|ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA, INCLUDED|FANCA|FANCONI ANEMIA, COMPLEMENTATION GROUP A|FANCONI ANEMIA;FA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED|Fanconi Anemias|Fanconi Hypoplastic Anemia|Fanconi Pancytopenia|Fanconi Panmyelopathy|Fanconi&apos;s Anemia
D012791||Shy-Drager Syndrome|Autonomic Failure, Progressive|Autonomic Failures, Progressive|Dysautonomia Orthostatic Hypotension Syndrome|Dysautonomia-Orthostatic Hypotension Syndrome|Dysautonomia-Orthostatic Hypotension Syndromes|Dysautonomic Orthostatic Hypotension|Dysautonomic Orthostatic Hypotensions|Failure, Progressive Autonomic|Failures, Progressive Autonomic|Hypotension, Dysautonomic Orthostatic|Hypotensions, Dysautonomic Orthostatic|Hypotension Syndrome, Dysautonomia-Orthostatic|Hypotension Syndromes, Dysautonomia-Orthostatic|Idiopathic Orthostatic Hypotension, Shy Drager Type|Idiopathic Orthostatic Hypotension, Shy-Drager Type|Orthostatic Hypotension, Dysautonomic|Orthostatic Hypotensions, Dysautonomic|Progressive Autonomic Failure|Progressive Autonomic Failures|Shy Drager Syndrome|Syndrome, Dysautonomia Orthostatic Hypotension|Syndrome, Dysautonomia-Orthostatic Hypotension|Syndromes, Dysautonomia-Orthostatic Hypotension|Syndrome, Shy-Drager
605389|C537160||Hypotrichosis simplex|Hereditary hypotrichosis simplex|HHS|HTS|HYPOTRICHOSIS 1|HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY|HYPT1
D012790||Shwartzman Phenomenon|Phenomenon, Schwartzman|Phenomenon, Shwartzman|Schwartzman Phenomenon|Schwartzman Reaction|Schwartzman Reactions|Shwartzman Reaction
D054515||Vulvar Vestibulitis|Vestibulitides, Vulvar|Vestibulitis, Vulvar|Vulvar Vestibulitides|Vulvar Vestibulitis Syndrome
D012793||Sialadenitis|Adenitides, Salivary Gland|Adenitis, Salivary Gland|Chronic Sialadenitides|Chronic Sialadenitis|Inflammation, Salivary Gland|Inflammations, Salivary Gland|Irradiation-Induced Sialadenitides|Irradiation Induced Sialadenitis|Irradiation-Induced Sialadenitis|Salivary Gland Adenitides|Salivary Gland Adenitis|Salivary Gland Inflammation|Salivary Gland Inflammations|Sialadenitides|Sialadenitides, Chronic|Sialadenitides, Irradiation-Induced|Sialadenitis, Chronic|Sialadenitis, Irradiation-Induced|Sialitides|Sialitis|Sialoadenitides|Sialoadenitis
D054514||Persistent Hyperplastic Primary Vitreous|Persistent Fetal Vasculature Syndrome|Persistent Hyaloid Arteries|Persistent Hyaloid Artery|Persistent Hyaloid Vasculature|Persistent Hyaloid Vasculatures
C537839|609628||Majeed syndrome|Chronic recurrent multifocal osteomyelitis, congenital|Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis|Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|Dyserythropoietic anemia, and neutrophilic dermatosis
D000788||Angina Pectoris, Variant|Angina, Prinzmetal|Angina, Prinzmetal&apos;s|Prinzmetal Angina|Prinzmetal&apos;s Angina|Prinzmetals Angina|Variant Angina Pectoris
C536833|231670||Glutaric aciduria 1|GA I|Glutaric acidemia 1|Glutaric Acidemia I|Glutaric Acidemia Type 1|Glutaric Acidemia Type I|Glutaric Aciduria I|Glutaryl-CoA dehydrogenase deficiency
D000787||Angina Pectoris|Angor Pectoris|Stenocardia|Stenocardias
C564563|300215||Lissencephaly, X-Linked, 2|Hydranencephaly and Abnormal Genitalia|Lissencephaly, X-Linked, with Ambiguous Genitalia|LISX2|XLAG|XLISG HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED
C541083|613282||Non-alcoholic Fatty Liver Disease|FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1|FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2|Fatty Liver, Nonalcoholic|LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1, INCLUDED|NAFLD|NAFLD1|NAFLD2|Nonalcoholic Fatty Liver Disease
D000785||Aneurysm, Infected|Aneurysm, Bacterial|Aneurysm, Fungal|Aneurysm, Mycotic|Aneurysms, Bacterial|Aneurysms, Fungal|Aneurysms, Infected|Aneurysms, Mycotic|Bacterial Aneurysm|Bacterial Aneurysms|Fungal Aneurysm|Fungal Aneurysms|Infected Aneurysm|Infected Aneurysms|Mycotic Aneurysm|Mycotic Aneurysms
D000789||Angina, Unstable|Angina at Rest|Angina Pectoris, Unstable|Angina Pectori, Unstable|Angina, Preinfarction|Anginas, Preinfarction|Anginas, Unstable|Myocardial Preinfarction Syndrome|Myocardial Preinfarction Syndromes|Preinfarction Angina|Preinfarction Anginas|Preinfarction Syndrome, Myocardial|Preinfarction Syndromes, Myocardial|Syndrome, Myocardial Preinfarction|Syndromes, Myocardial Preinfarction|Unstable Angina|Unstable Angina Pectori|Unstable Angina Pectoris|Unstable Anginas
C563278|160120||Episodic Ataxia, Type 1|AEM|AEMK|Ataxia, Episodic, with Myokymia|CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED|EA1|EAM|Episodic Ataxia with Myokymia|ISAACS-MERTENS SYNDROME, INCLUDED|Myokymia 1 With Or Without Hypomagnesemia|MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED|Myokymia with Periodic Ataxia|MYOKYMIA WITH PERIODIC ATAXIA MYOKYMIA 1, INCLUDED|Paroxysmal Ataxia with Neuromyotonia, Hereditary
D000784||Aneurysm, Dissecting|Aneurysms, Dissecting|Dissecting Aneurysm|Dissecting Aneurysms
D000783||Aneurysm|Aneurysm, Fusiform|Aneurysms|Aneurysms, Fusiform|Fusiform Aneurysm|Fusiform Aneurysms|Saccular Aneurysm
D000782||Aneuploidy|Aneuploid|Aneuploid Cell|Aneuploid Cells|Aneuploidies|Aneuploids|Cell, Aneuploid|Cells, Aneuploid
C566450|610071||Hyperparathyroidism 3|HRPT3|Hyperparathyroidism, Familial Isolated
D012766||Pasteurellosis, Pneumonic|Fever, Shipping|Pneumonic Pasteurellosis|Shipping Fever
D012614|240400||Scurvy|GULO, NONFUNCTIONAL, INCLUDED|GULOP, INCLUDED|Hypoascorbemia|Hypoascorbemias|L-GULONOLACTONE OXIDASE, NONFUNCTIONAL, INCLUDED|Scorbutus|Scurvies|SCURVY|VITAMIN C, INABILITY TO SYNTHESIZE L-GULONOLACTONE OXIDASE PSEUDOGENE, INCLUDED
D009123||Muscle Hypotonia|Decreased Muscle Tone|Flaccidity, Muscle|Flaccidity, Muscular|Flaccid Muscle Tone|Floppy Muscle|Floppy Muscles|Hypomyotonia|Hypotonia|Hypotonia, Muscle|Hypotonia, Muscular|Hypotonia, Neonatal|Hypotonias, Neonatal|Hypotonias, Unilateral|Hypotonia, Unilateral|Hypotony, Muscle|Muscle Flaccidity|Muscle, Floppy|Muscle Hypotony|Muscles, Floppy|Muscle Tone Atonic|Muscle Tone Atonics|Muscle Tone, Decreased|Muscle Tone, Flaccid|Muscle Tone Poor|Muscular Flaccidities|Muscular Flaccidity|Muscular Hypotonia|Neonatal Hypotonia|Neonatal Hypotonias|Tone Atonic, Muscle|Tone Poor, Muscle|Unilateral Hypotonia
D009122||Muscle Hypertonia|Detrusor Muscle Hypertonia|Detrusor Muscle Hypertonias|Hypermyotonia|Hypermyotonias|Hypertonia, Detrusor Muscle|Hypertonia, Infantile|Hypertonia, Muscle|Hypertonia, Neonatal|Hypertonias, Detrusor Muscle|Hypertonias, Infantile|Hypertonias, Muscle|Hypertonias, Neonatal|Hypertonia, Sphincter|Hypertonias, Sphincter|Hypertonias, Transient|Hypertonia, Transient|Hypertonicities, Muscular|Hypertonicity, Muscular|Increased, Muscle Tone|Infantile Hypertonia|Infantile Hypertonias|Muscle Hypertonia, Detrusor|Muscle Hypertonias|Muscle Hypertonias, Detrusor|Muscle Tone Increased|Muscular Hypertonicities|Muscular Hypertonicity|Neonatal Hypertonia|Neonatal Hypertonias|Sphincter Hypertonia|Sphincter Hypertonias|Tone Increased, Muscle|Transient Hypertonia|Transient Hypertonias
D009120||Muscle Cramp|Cramp|Cramp, Limb|Cramp, Muscle|Cramp, Muscular|Cramps|Cramps, Limb|Cramps, Muscle|Cramps, Muscular|Limb Cramp|Limb Cramps|Muscle Cramps|Muscular Cramp|Muscular Cramps
D012769||Shock|Circulatory Collapse|Circulatory Failure|Collapse, Circulatory|Failure, Circulatory|Hypovolemic Shock|Shock, Hypovolemic
145900|D015417||Hereditary Sensory and Motor Neuropathy|ALPHA-METHYLACYL-CoA RACEMASE|AMACR|Charcot-Marie-Tooth Disease, Demyelinating, Type 4f|Charcot Marie Tooth Disease, Type 3|Charcot-Marie-Tooth Disease, Type 3|CMT3|CMT4f|Dejerine Sottas Disease|Dejerine-Sottas Disease|Dejerine-Sottas Hypertrophic Neuropathy|Dejerine Sottas Neuropathy|Dejerine-Sottas Neuropathy|Dejerine Sottas Syndrome|Dejerine-Sottas Syndrome|Disease, Dejerine-Sottas|DSN|DSS|Herditary Sensory and Motor Neuropathy|Hereditary Motor and Sensory Neuropathies|Hereditary Motor and Sensory Neuropathy|Hereditary Motor and Sensory Neuropathy 3|Hereditary Motor and Sensory Neuropathy Type III|Hereditary, Type III, Motor and Sensory Neuropathy|Hereditary, Type VII, Motor and Sensory Neuropathy|HMSN|HMSN3|HMSN Type III|HMSN Type IIIs|HMSN Type VII|HMSN Type VIIs|Hypertrophic Neuropathy of Dejerine Sottas|Hypertrophic Neuropathy of Dejerine-Sottas|Neuropathies, Hereditary Motor and Sensory|Neuropathy, Dejerine-Sottas|Syndrome, Dejerine-Sottas|Type VII, HMSN
608219|C564273||Deafness, Autosomal Recessive 38|DFNB38
D000799||Angioedema|Angioedemas|Angioneurotic Edema|Angioneurotic Edemas|Edema, Angioneurotic|Edema, Quincke&apos;s|Edemas, Angioneurotic|Giant Urticaria|Giant Urticarias|Quincke Edema|Quincke&apos;s Edema|Quinckes Edema|Urticaria, Giant|Urticarias, Giant
D000798||Angiomatosis|Angiomatoses
D054882|613571||Antley-Bixler Syndrome Phenotype|Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency|Antley Bixler Syndrome|Antley-Bixler Syndrome|Antley Bixler Syndrome, Autosomal Dominant|Antley-Bixler Syndrome, Autosomal Dominant|Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis|Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis|Antley Bixler Syndrome Phenotype|Antley Bixler Syndrome with Disordered Steroidogenesis|Antley-Bixler Syndrome with Disordered Steroidogenesis|Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase|Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency|Cytochrome P450 Oxidoreductase Deficiency|Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency|DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY|Multisynostotic Osteodysgenesis|Multisynostotic Osteodysgenesis With Long Bone Fractures|Osteodysgenesis, Multisynostotic|Osteodysgenesis, Multisynostotic, With Fractures|Phenotype, Antley-Bixler Syndrome|POR Deficiency|Syndrome, Antley-Bixler|Syndrome Phenotype, Antley-Bixler|Syndromes, Trapezoidocephaly-Synostosis|Syndrome, Trapezoidocephaly-Synostosis|Trapezoidocephaly Synostosis Syndrome|Trapezoidocephaly-Synostosis Syndrome|Trapezoidocephaly-Synostosis Syndromes
C566603|601941||Diabetes Mellitus, Insulin-Dependent, 6|AITD5, INCLUDED|IDDM6|Insulin-Dependent Diabetes Mellitus 6|INSULIN-DEPENDENT DIABETES MELLITUS 6 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED
C565311|605637||Inclusion Body Myopathy 3, Autosomal Dominant|IBM3|Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles
D000796||Angiolymphoid Hyperplasia with Eosinophilia|Disease, Kimura|Eosinophilic Granuloma of Soft Tissue|Eosinophilic Hyperplastic Lymphogranuloma|Eosinophilic Hyperplastic Lymphogranulomas|Eosinophilic Lymphofollicular Granuloma|Eosinophilic Lymphofollicular Granulomas|Eosinophilic Lymphofolliculoses|Eosinophilic Lymphofolliculosis|Granuloma, Eosinophilic Lymphofollicular|Granuloma, Pseudopyogenic|Granulomas, Eosinophilic Lymphofollicular|Granulomas, Pseudopyogenic|Hyperplastic Lymphogranuloma, Eosinophilic|Hyperplastic Lymphogranulomas, Eosinophilic|Kimura Disease|Lymphofollicular Granuloma, Eosinophilic|Lymphofollicular Granulomas, Eosinophilic|Lymphofolliculoses, Eosinophilic|Lymphofolliculosis, Eosinophilic|Lymphogranuloma, Eosinophilic Hyperplastic|Lymphogranulomas, Eosinophilic Hyperplastic|Pseudopyogenic Granuloma|Pseudopyogenic Granulomas
C537706|259690||Kaler Garrity Stern syndrome|Osteopenia and sparse hair|Osteopenia mental retardation sparse hair
D009128||Muscle Spasticity|Clasp Knife Spasticity|Clasp-Knife Spasticity|Spastic|Spasticity, Clasp-Knife|Spasticity, Muscle
D000794||Angiokeratoma|Angiokeratomas
D009127||Muscle Rigidity|Catatonic Rigidity|Cogwheel Rigidities|Cogwheel Rigidity|Extensor Rigidity|Extrapyramidal Rigidity|Gegenhalten|Gegenhaltens|Muscular Rigidity|Nuchal Rigidity|Rigidities, Cogwheel|Rigidity, Catatonic|Rigidity, Cogwheel|Rigidity, Extensor|Rigidity, Extrapyramidal|Rigidity, Muscle|Rigidity, Muscular|Rigidity, Nuchal
D000793||Angioid Streaks|Angioid Streak|Streak, Angioid|Streaks, Angioid
D024741||Cardiomyopathy, Hypertrophic, Familial|Asymmetric Septal Hypertrophy, Familial|Cardiomyopathies, Familial Hypertrophic|Cardiomyopathy, Familial Hypertrophic|Familial Hypertrophic Cardiomyopathies|Familial Hypertrophic Cardiomyopathy|Familial Ventricular Hypertrophies|Familial Ventricular Hypertrophy|Hereditary Ventricular Hypertrophies|Hereditary Ventricular Hypertrophy|Hypertrophic Cardiomyopathies, Familial|Hypertrophic Cardiomyopathy, Familial|Hypertrophic Subaortic Stenosis, Idiopathic|Hypertrophies, Hereditary Ventricular|Hypertrophy, Familial Ventricular|Hypertrophy, Hereditary Ventricular|Obstructive Asymmetric Septal Hypertrophy|Ventricular Hypertrophies, Familial|Ventricular Hypertrophies, Hereditary|Ventricular Hypertrophy, Familial|Ventricular Hypertrophy, Hereditary
D009136||Muscular Dystrophies|Dystrophies, Muscular|Dystrophy, Muscular|Muscular Dystrophy|Myodystrophica|Myodystrophicas|Myodystrophies|Myodystrophy
D012778||Short Bowel Syndrome|Bowel Syndrome, Short|Bowel Syndromes, Short|Short Bowel Syndromes|Syndrome, Short Bowel|Syndromes, Short Bowel
D009135||Muscular Diseases|Muscle Disorder|Muscle Disorders|Muscular Disease|Myopathic Condition|Myopathic Conditions|Myopathies|Myopathy
D009134||Muscular Atrophy, Spinal|Adult Onset Spinal Muscular Atrophy|Adult-Onset Spinal Muscular Atrophy|Adult Spinal Muscular Atrophy|Amyotrophies, Spinal|Amyotrophy, Neurogenic Scapuloperoneal, New England Type|Amyotrophy, Spinal|Atrophies, Progressive Muscular|Atrophy, Myelopathic Muscular|Atrophy, Progressive Muscular|Atrophy, Spinal Muscular|Bulbospinal Neuronopathies|Bulbospinal Neuronopathy|Distal Spinal Muscular Atrophy|Hereditary Motor Neuronopathies|Hereditary Motor Neuronopathy|Motor Neuronopathies, Hereditary|Motor Neuronopathy, Hereditary|Muscular Atrophies, Progressive|Muscular Atrophy, Adult Spinal|Muscular Atrophy, Myelopathic|Muscular Atrophy, Progressive|Myelopathic Muscular Atrophy|Myelopathic Muscular Atrophy, Progressive|Neuronopathies, Bulbospinal|Neuronopathies, Hereditary Motor|Neuronopathy, Bulbospinal|Neuronopathy, Hereditary Motor|Oculopharyngeal Spinal Muscular Atrophy|Progressive Muscular Atrophies|Progressive Muscular Atrophy|Progressive Myelopathic Muscular Atrophy|Progressive Proximal Myelopathic Muscular Atrophy|Proximal Myelopathic Muscular Atrophy, Progressive|Scapuloperoneal Form of Spinal Muscular Atrophy|Scapuloperoneal Spinal Muscular Atrophy|Spinal Amyotrophies|Spinal Amyotrophy|Spinal Muscular Atrophy|Spinal Muscular Atrophy, Distal|Spinal Muscular Atrophy, Oculopharyngeal|Spinal Muscular Atrophy, Scapuloperoneal|Spinal Muscular Atrophy, Scapuloperoneal Form
D009133||Muscular Atrophy|Atrophies, Muscle|Atrophies, Muscular|Atrophies, Neurogenic Muscular|Atrophies, Neurotrophic Muscular|Atrophy, Muscle|Atrophy, Muscular|Atrophy, Neurogenic Muscular|Atrophy, Neurotrophic Muscular|Muscle Atrophies|Muscle Atrophy|Muscular Atrophies|Muscular Atrophies, Neurogenic|Muscular Atrophies, Neurotrophic|Muscular Atrophy, Neurogenic|Muscular Atrophy, Neurotrophic|Neurogenic Muscular Atrophies|Neurogenic Muscular Atrophy|Neurotrophic Muscular Atrophies|Neurotrophic Muscular Atrophy
246200|D056731||Donohue Syndrome|Leprechaunism|LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN, INCLUDED|Leprechaunisms|Mendenhall Syndrome|Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities|Rabson Mendenhall Syndrome|Rabson-Mendenhall Syndrome|Syndrome, Donohue|Syndrome, Mendenhall|Syndrome, Rabson-Mendenhall
D012770||Shock, Cardiogenic|Cardiogenic Shock
D053202||Urinary Incontinence, Urge|Incontinence, Urge|Incontinence, Urinary Reflex|Urge Incontinence|Urinary Reflex Incontinence|Urinary Urge Incontinence
D053201||Urinary Bladder, Overactive|Bladder, Overactive|Detrusor Function, Overactive|Detrusor, Overactive|Overactive Bladder|Overactive Detrusor|Overactive Detrusor Function|Overactive Urinary Bladder
D012773||Shock, Surgical|Surgical Shock|Surgical Shocks
D053207||Diurnal Enuresis|Daytime Urinary Incontinence|Daytime Wetting|Enuresis, Diurnal|Incontinence, Daytime Urinary|Urinary Incontinence, Daytime|Wetting, Daytime
D012774||Shock, Traumatic|Traumatic Shock
D054537||Atrioventricular Block|Atrioventricular Blocks|Atrioventricular Conduction Block|Atrioventricular Conduction Blocks|AV Block|AV Blocks|Block, AV|Blocks, AV|Conduction Block, Atrioventricular|Conduction Blocks, Atrioventricular
D012771||Shock, Hemorrhagic|Hemorrhagic Shock
D008527|155255||Medulloblastoma|Adult Medulloblastoma|Adult Medulloblastomas|Arachnoidal Cerebellar Sarcoma, Circumscribed|Childhood Medulloblastoma|Childhood Medulloblastomas|Desmoplastic Medulloblastoma|Desmoplastic Medulloblastomas|MBEN, INCLUDED|MDB|Medulloblastoma, Adult|Medulloblastoma, Childhood|Medulloblastoma, Desmoplastic|MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED|Medulloblastoma, Melanocytic|Medulloblastomas|Medulloblastomas, Adult|Medulloblastomas, Childhood|Medulloblastomas, Desmoplastic|Medulloblastomas, Melanocytic|MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY, INCLUDED|Medullomyoblastoma|Medullomyoblastomas|Melanocytic Medulloblastoma|Melanocytic Medulloblastomas|Sarcoma, Cerebellar, Circumscribed Arachnoidal
D012772||Shock, Septic|Endotoxic Shock|Septic Shock|Shock, Endotoxic|Shock Syndromes, Toxic|Shock Syndrome, Toxic|Shock, Toxic|Syndromes, Toxic Shock|Syndrome, Toxic Shock|Toxic Shock|Toxic Shock Syndrome|Toxic Shock Syndromes
C538215|125400||Dentin dysplasia, type 1|DENTIN DYSPLASIA, SHIELDS TYPE I|Dentin Dysplasia, Type I|DTDP1|Radicular dentin dysplasia|RADICULAR DENTIN DYSPLASIA DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH, INCLUDED|Rootless teeth
D046150|262500||Laron Syndrome|Dwarfism II, Pituitary|Dwarfism IIs, Pituitary|Dwarfism, Laron|GH Resistance, Primary|Growth Hormone Insensitivity Syndrome|Growth Hormone Receptor Defect|Growth Hormone Receptor Deficiency|Laron Dwarfism|Laron Type Dwarfism I|Pituitary Dwarfism II|Pituitary Dwarfism IIs|Primary GH Resistance|Primary Growth Hormone Resistance|Severe GH Insensitivity|Syndrome, Laron
D013661|272800||Tay-Sachs Disease|Amaurotic Familial Idiocy|Amaurotic Idiocy, Familial|B Variant GM2-Gangliosidoses|B Variant GM2 Gangliosidosis|B Variant GM2-Gangliosidosis|Deficiency Disease Hexosaminidase A|Deficiency, Hexosaminidase A|Deficiency, Hexosaminidase alpha-Subunit (Variant B)|Familial Amaurotic Idiocy|Gangliosidosis GM2, B Variant|Gangliosidosis GM2 , Type 1|Gangliosidosis G(M2), Type I|Gangliosidosis GM2, Type I|GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED|GM2 Gangliosidosis, B Variant|GM2-Gangliosidosis, B Variant|GM2 Gangliosidosis, Type 1|G(M2) Gangliosidosis, Type I|GM2 Gangliosidosis, Type I|GM2-Gangliosidosis, Type I|GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED|HexA Deficiency|HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE, INCLUDED|Hexosaminidase A Deficiency|HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED|Hexosaminidase A Deficiency Disease|Hexosaminidase alpha Subunit Deficiency (Variant B)|Hexosaminidase alpha-Subunit Deficiency (Variant B)|Sphingolipidosis, Tay Sachs|Sphingolipidosis, Tay-Sachs|Tay Sachs Disease|Tay Sachs Disease, B Variant|Tay-Sachs Disease, B Variant|TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED|TAY-SACHS DISEASE, VARIANT B1, INCLUDED|Tay-Sachs Sphingolipidosis|TSD|Type I GM2-Gangliosidosis
226700|D016109||Epidermolysis Bullosa, Junctional|Bullosa, Herlitz-Pearson-Type Epidermolysis|Bullosa Letali, Epidermolysis|Bullosa Letalis, Epidermolysis|Disease, Herlitz|Disease, Herlitz&apos;s|Epidermolysis Bullosa, Generalized Atrophic Benign|Epidermolysis Bullosa, Herlitz-Pearson-Type|Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type|Epidermolysis Bullosa, Junctional, Herlitz Type|Epidermolysis Bullosa Junctionalis, Disentis Type|Epidermolysis Bullosa Junctionalis, Herlitz Type|Epidermolysis Bullosa Junctionalis, Progressive|Epidermolysis Bullosa Junctionalis, Severe Nonlethal|Epidermolysis Bullosa Letali|Epidermolysis Bullosa Letalis|Epidermolysis Bullosa Progressiva|Herlitz Disease|Herlitz Pearson Type Epidermolysis Bullosa|Herlitz-Pearson Type Epidermolysis Bullosa|Herlitz-Pearson-Type Epidermolysis Bullosa|Herlitz&apos;s Disease|Herlitzs Disease|JEB-HERLITZ TYPE|Junctional Epidermolysis Bullosa|Letali, Epidermolysis Bullosa|Letalis, Epidermolysis Bullosa|Lethal Junctional Epidermolysis Bullosa
C535971||Coloboma, cleft lip/palate and mental retardation syndrome|Coloboma-microphthalmos syndrome|Coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|Uveal coloboma-cleft lip/palate-mental retardation syndrome
C536093|600080||Myelocytic leukemia-like syndrome, familial, chronic|Cml-Like Syndrome, Familial
259100||HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1|CIO, INCLUDED|COA, INCLUDED|CURRARINO IDIOPATHIC OSTEOARTHROPATHY, INCLUDED|FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD, INCLUDED|PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE|PDP, AUTOSOMAL RECESSIVE|PHOAR1|PHO, AUTOSOMAL RECESSIVE|TOURAINE-SOLENTE-GOLE SYNDROME CRANIOOSTEOARTHROPATHY, INCLUDED
188580||THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1|TTPP1
D009102||Multiple Organ Failure|Failure, Multiple Organ|MODS|Multiple Organ Dysfunction Syndrome|Multiple Organ Failures|Organ Dysfunction Syndrome, Multiple|Organ Failure, Multiple
C535969||Coloboma of macula type B brachydactyly|Coloboma Of Macula With Type B Brachydactyly|Sorsby syndrome
D009100||Multiple Carboxylase Deficiency|Carboxylase Deficiencies, Combined|Carboxylase Deficiencies, Multiple|Carboxylase Deficiency, Combined|Carboxylase Deficiency, Multiple|Combined Carboxylase Deficiencies|Combined Carboxylase Deficiency|Deficiencies, Combined Carboxylase|Deficiencies, Multiple Carboxylase|Deficiency, Combined Carboxylase|Deficiency, Multiple Carboxylase|Multiple Carboxylase Deficiencies
D010022|166600||Osteopetrosis|Albers Schoenberg Disease|Albers-Schoenberg Disease|Albers Schonberg Disease|Albers-Schonberg Disease|Albers Sch&#246;nberg Disease|Albers-Sch&#246;nberg Disease|Albers Schonberg Disease, Autosomal Dominant|Albers-Schonberg Disease, Autosomal Dominant|Autosomal Dominant Osteopetrosis Type 2|Congenital Osteopetrosis|Disease, Albers-Schoenberg|Disease, Albers-Schonberg|Disease, Albers-Sch&#246;nberg|Disease, Marble Bone|Marble Bone Disease|Marble Bones, Autosomal Dominant|OPTA2|Osteopetroses|Osteopetrosis, Autosomal Dominant 2|Osteopetrosis Autosomal Dominant Type 2|Osteopetrosis, Autosomal Dominant, Type II|Osteosclerosis Fragilis|Osteosclerosis Fragilis Generalisata|Osteosclerosis Fragilis Generalisatas
D012749||Sexually Transmitted Diseases|Disease, Sexually Transmitted|Diseases, Sexually Transmitted|Diseases, Venereal|Disease, Venereal|Sexually Transmitted Disease|STDs|Venereal Disease|Venereal Diseases
C537472|309605||Miles-Carpenter x-linked mental retardation syndrome|MCS|Mental retardation, X-linked, syndromic 4|Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches|MRXS4
C564507|300476||Cone-Rod Dystrophy, X-Linked, 3|CORDX3
C535964||Collagenopathy, type 2 alpha 1|Cartilage collagen
C535963||Cole Carpenter syndrome|Cole-Carpenter Syndrome
C535966||Colloid cysts of third ventricle|Neuroepithelial cysts of third ventricle
D054549||Takotsubo Cardiomyopathy|Apical Ballooning Syndrome|Broken Heart Syndrome|Cardiomyopathy, Stress|Cardiomyopathy, Takotsubo|Cardiomyopathy, Tako-tsubo|Left Ventricular Apical Ballooning Syndrome|Stress Cardiomyopathy|Syndrome, Apical Ballooning|Syndrome, Broken Heart|Syndromes, Broken Heart|Syndromes, Tako-tsubo|Syndrome, Tako-tsubo|Tako tsubo Cardiomyopathy|Tako-tsubo Cardiomyopathy|Tako tsubo Syndrome|Tako-tsubo Syndrome|Takotsubo Syndrome|Tako-tsubo Syndromes|Transient Apical Ballooning Syndrome
C535968||Hereditary macular coloboma|Agenesis of macula|Coloboma of macula|Macular coloboma
C535967||Coloboma of Alar-nasal cartilages with telecanthus|Alar-Nasal Cartilages, Coloboma Of, With Telecanthus|Frontonasal dysplasia with alar clefts
C566501|609633||Major Affective Disorder 3|Bipolar Affective Disorder, Early-Onset|BPEO|MAFD3
604804||MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE|MCPH3
C536534|192350||VATER association|VACTERL ASSOCIATION, INCLUDED|Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, and Radial dysplasia
277180|C535984||Congenital bilateral aplasia of vas deferens|Absence of Vas Deferens|Absent Vasa|CAVD|CBAVD|Congenital Absence of Vas Deferens|Congenital Aplasia of Vas Deferens|Congenital bilateral absence of the vas deferens|Congenital Bilateral Absence of Vas Deferens|Vas Deferens, Congenital Bilateral Aplasia Of
C535981||Congenital alopecia X-linked|Alopecia congenital|Alopecia, Congenital|Congenital alopecia
606764|D046152||Gastrointestinal Stromal Tumors|Gastrointestinal Stromal Neoplasm|Gastrointestinal Stromal Neoplasms|Gastrointestinal Stromal Sarcoma|Gastrointestinal Stromal Tumor|GIST|Neoplasm, Gastrointestinal Stromal|Neoplasms, Gastrointestinal Stromal|Stromal Neoplasm, Gastrointestinal|Stromal Neoplasms, Gastrointestinal|Stromal Tumor, Gastrointestinal|Stromal Tumors, Gastrointestinal|Tumor, Gastrointestinal Stromal|Tumors, Gastrointestinal Stromal
D009107||Mumps|Epidemic Parotitides|Epidemic Parotitis|Parotitides, Epidemic|Parotitis, Epidemic
C565504|236680||Hydrolethalus Syndrome 1|HLS1
D009105||Multiple Personality Disorder|Disorder, Dissociative Identity|Disorder, Multiple Identity|Disorder, Multiple Personality|Dissociative Identity Disorder|Dual Personality|Identity Disorder, Dissociative|Identity Disorder, Multiple|Multiple Identity Disorder|Multiple Identity Disorders|Multiple Personalities|Multiple Personality|Multiple Personality Disorders|Personalities, Dual|Personalities, Multiple|Personality Disorder, Multiple|Personality Disorders, Multiple|Personality, Dual|Personality, Multiple
D009104||Multiple Trauma|Injuries, Multiple|Injury, Multiple|Multiple Injuries|Multiple Injury|Multiple Traumas|Multiple Wound|Multiple Wounds|Polytrauma|Polytraumas|Trauma, Multiple|Traumas, Multiple|Wound, Multiple|Wounds, Multiple
D055882||Nevus, Halo|Halo Nevi|Halo Nevus|Leukoderma Acquisitum Centrifugum of Sutton|Nevi, Halo
D012753||Shared Paranoid Disorder|Disorder, Shared Paranoid|Disorder, Shared Psychotic|Disorders, Shared Paranoid|Disorders, Shared Psychotic|Folie a Deux|Folie a Trois|Paranoid Disorder, Shared|Paranoid Disorders, Shared|Psychotic Disorder, Shared|Psychotic Disorders, Shared|Shared Paranoid Disorders|Shared Psychotic Disorder|Shared Psychotic Disorders
249420|C537274||Ter Haar syndrome|Frank Ter Haar syndrome|Frank-Ter Haar Syndrome|FTHS|Megalocornea, multiple skeletal anomalies, and developmental delay|MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY|TER HAAR SYNDROME
D009110||Munchausen Syndrome|Hospital Addiction Syndrome|Hospital-Addiction Syndrome|Hospital-Addiction Syndromes|Munchhausen Syndrome|Syndrome, Hospital Addiction|Syndrome, Hospital-Addiction|Syndrome, Munchausen|Syndrome, Munchhausen|Syndromes, Hospital-Addiction
D012757||Sheep Diseases|Disease, Ovine|Disease, Sheep|Diseases, Ovine|Diseases, Sheep|Ovine Disease|Ovine Diseases|Sheep Disease
C562465|608251||Phobia, Specific|Phobia, Simple
208530|D059446||Heterotaxy Syndrome|Ambiguus, Situs|Ambiguus Viscerum, Situs|Ambiguus Viscerums, Situs|Asplenia Syndrome|Asplenia Syndromes|Asplenia with Cardiovascular Anomalies|Atrial Isomerism, Left|Atrial Isomerism, Right|Atrial Isomerisms, Left|Atrial Isomerisms, Right|Heterotaxies, Visceral|Heterotaxy Syndromes|Heterotaxy, Visceral|HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE, INCLUDED|Isomerism, Left Atrial|Isomerism, Right Atrial|Isomerisms, Left Atrial|Isomerisms, Right Atrial|Ivemark Syndrome|IVEMARK SYNDROME POLYSPLENIA SYNDROME, INCLUDED|Left Atrial Isomerism|Left Atrial Isomerisms|Left Atrial Isomerism with Polysplenia|POLYASPLENIA, INCLUDED|Polysplenia Syndrome|Polysplenia Syndromes|RAI|Right Atrial Isomerism|Right Atrial Isomerisms|Right Atrial Isomerism with Asplenia|Situs Ambiguus|Situs Ambiguus Viscerum|Situs Ambiguus Viscerums|Situs Ambiguus with Asplenia|Situs Ambiguus with Polysplenia|Syndrome, Asplenia|Syndrome, Heterotaxy|Syndrome, Ivemark|Syndrome, Polysplenia|Syndromes, Asplenia|Syndromes, Heterotaxy|Syndromes, Polysplenia|VAH, AUTOSOMAL RECESSIVE, INCLUDED|Visceral Heterotaxies|Visceral Heterotaxy|Viscerum, Situs Ambiguus|Viscerums, Situs Ambiguus
215100|C531651||Rhizomelic chondrodysplasia punctata, type 1|CDPR|CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM|Chondrodystrophia calcificans punctata|PBD9|PEROXISOME BIOGENESIS DISORDER 9|RCDP1
C535973||Colpocephaly
D054556||Venous Thromboembolism|Thromboembolism, Venous
C535972||Colorectal cancer, hereditary nonpolyposis, type 1|Colon cancer, familial nonpolyposis, type 1
C535975||Cone dystrophy, x-linked, with tapetal-like sheen
C535974||Complete atrioventricular septal defect|Common atrioventricular canal|Complete atrioventricular canal
D012751||Sezary Syndrome|Erythroderma, Sezary|Lymphoma, Sezary&apos;s|Sezary Erythroderma|Sezary Lymphoma|Sezary&apos;s Lymphoma|Sezarys Lymphoma|Syndrome, Sezary
C535977||Congenital absence of the sternocleidomastoid muscle
C535976||Cone rod dystrophy amelogenesis imperfecta
D054559||Hyperphosphatemia|Hyperphosphatemias
D000743||Anemia, Hemolytic|Acquired Hemolytic Anemia|Anemia, Acquired Hemolytic|Anemia, Hemolytic, Acquired|Anemia, Microangiopathic|Hemolytic Anemia|Hemolytic Anemia, Acquired|Microangiopathic Anemia|Microangiopathic Hemolytic Anemia
C535991||De Hauwere Leroy Adriaenssens syndrome|Iris dysplasia, orbital hypertelorism, and psychomotor retardation
D000748||Anemia, Macrocytic|Anemias, Macrocytic|Macrocytic Anemia|Macrocytic Anemias
C535990||De Barsy syndrome|Corneal clouding cutis laxa mental retardation|Cutis Laxa, Corneal Clouding, And Mental Retardation|De Barsy Moens Diercks syndrome|Progeroid syndrome of De Barsy
D000747||Anemia, Hypochromic|Anemias, Hypochromic|Chloroses|Chlorosis|Hypochromic Anemia|Hypochromic Anemias
C535993||Deafness conductive ptosis skeletal anomalies|Deafness, Conductive, with Ptosis and Skeletal Anomalies|Jackson Barr syndrome
D000746||Anemia, Hemolytic, Congenital Nonspherocytic|Anemia, Congenital Nonspherocytic Hemolytic|Anemia, Hemolytic Congenital, Nonspherocytic|Congenital Nonspherocytic Hemolytic Anemia|Hemolytic Anemia, Congenital Nonspherocytic
D000745||Anemia, Hemolytic, Congenital|Anemia, Congenital Hemolytic|Anemia, Hemolytic, Hereditary|Anemia, Hereditary Hemolytic|Anemias, Congenital Hemolytic|Anemias, Hereditary Hemolytic|Congenital Hemolytic Anemia|Congenital Hemolytic Anemias|Hemolytic Anemia, Congenital|Hemolytic Anemia, Hereditary|Hemolytic Anemias, Congenital|Hemolytic Anemias, Hereditary|Hereditary Hemolytic Anemia|Hereditary Hemolytic Anemias
D012729||Sex Chromosome Aberrations|Aberration, Sex Chromosome|Aberrations, Sex Chromosome|Abnormalities, Sex Chromosome|Abnormality, Sex Chromosome|Chromosome Aberration, Sex|Chromosome Aberrations, Sex|Chromosome Abnormalities, Sex|Chromosome Abnormality, Sex|Sex Chromosome Aberration|Sex Chromosome Abnormalities|Sex Chromosome Abnormality
C562479|153800||Macular Degeneration, Age-Related, 2|Armd2|Macular Degeneration, Senile|Maculopathy, Age-Related, 2
D000740||Anemia|Anemias
C565697|610612||Leber Congenital Amaurosis 12|LCA12
C535986||Daneman Davy Mancer syndrome|Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies|Multinodular goiter, cystic renal disease, and digital anomalies|Multinodular Goiter/Cystic Renal Disease/Digital Anomalies
C566925|611528||Arrhythmogenic Right Ventricular Dysplasia, Familial, 12|Arrhythmogenic Right Ventricular Cardiomyopathy 12|ARVC12|ARVD12
C535985||Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy|Facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation
D000749||Anemia, Megaloblastic|Anemias, Megaloblastic|Megaloblastic Anemia|Megaloblastic Anemias
C535988||Davenport Donlan syndrome|Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis
D006013|232700||Glycogen Storage Disease Type VI|Disease, Hers|Disease, Hers&apos;|Glycogenosis 6|Glycogenosis Type VI|Glycogenosis VI|GLYCOGEN STORAGE DISEASE VI|GSD6|GSD VI|Hepatic Glycogen Phosphorylase Deficiency|Her Disease|Hers Disease|Hers&apos; Disease|Liver Phosphorylase Deficiency Syndrome|PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER|Type VI, Glycogenosis
C535989||Davis Lafer syndrome|Lafer Davis syndrome|Mental retardation unusual facies Davis Lafer type
D000754||Anemia, Refractory, with Excess of Blasts|Leukemia, Smoldering|Leukemia, Smouldering|Leukemias, Smoldering|RAEB|RAEM|Refractory Anemia with Excess of Blasts|Smoldering Leukemia|Smoldering Leukemias|Smouldering Leukemia
C564832|268200||Myoglobinuria, Acute Recurrent, Autosomal Recessive|Myoglobinuria, Familial Paroxysmal Paralytic|Rhabdomyolysis, Acute Recurrent
D000753||Anemia, Refractory|Anemias, Refractory|Refractory Anemia|Refractory Anemias
D000752||Anemia, Pernicious|Addison Anemia|Addison&apos;s Anemia|Addisons Anemia|Anemia, Addison|Anemia, Addisons|Anemia, Addison&apos;s|Pernicious Anemia
D000756||Anemia, Sideroblastic|Anemias, Sideroblastic|Sideroblastic Anemia|Sideroblastic Anemias
C537027|201710||Lipoid congenital adrenal hyperplasia|Adrenal hyperplasia 1|Adrenal Hyperplasia I|LCAH|Lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism
608391||AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2|AIS2|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED|VAMAS3|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 3
608392||AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3|AIS3|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED|VAMAS4|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 4
608393||MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE|MCPH6
C537580|266900||Senior Loken Syndrome|Juvenile nephronophthisis with Leber amaurosis|Loken-Senior Syndrome|Renal Dysplasia And Retinal Aplasia|Renal dysplasia retinal aplasia|Renal-retinal syndrome|Senior-Loken Syndrome|Senior-L&#248;ken Syndrome|Senior-Loken Syndrome 1|SLSN1
D000751||Anemia, Neonatal|Anemia Neonatorum|Anemias, Neonatal|Neonatal Anemia|Neonatal Anemias
D000750||Anemia, Myelophthisic|Anemia, Leukoerythroblastic|Anemias, Leukoerythroblastic|Anemias, Myelophthisic|Leukoerythroblastic Anemia|Leukoerythroblastic Anemias|Myelophthisic Anemia|Myelophthisic Anemias
607060||PARKINSON DISEASE 8, AUTOSOMAL DOMINANT|PARK8
C536643|300266||Spastic paraplegia 16, X-linked|SPG16
D012734||Disorders of Sex Development|Ambiguities, Genital|Ambiguity, Genital|Ambiguous Genitalia|Condition, Intersex|Conditions, Intersex|Differentiation Disorder, Sex|Differentiation Disorder, Sexual|Differentiation Disorders, Sex|Differentiation Disorders, Sexual|Disorder, Sex Differentiation|Disorder, Sexual Differentiation|Disorders of Sexual Development|Disorders, Sex Differentiation|Disorders, Sexual Differentiation|Genital Ambiguities|Genital Ambiguity|Genitalia, Ambiguous|Hermaphroditism|Intersex Condition|Intersex Conditions|Intersexualities|Intersexuality|Pseudohermaphroditism|Sex Development Disorder|Sex Development Disorders|Sex Differentiation Disorder|Sex Differentiation Disorders|Sexual Development Disorder|Sexual Development Disorders|Sexual Differentiation Disorder|Sexual Differentiation Disorders
D012735||Sexual Dysfunction, Physiological|Physiological Sexual Disorder|Physiological Sexual Disorders|Physiological Sexual Dysfunction|Physiological Sexual Dysfunctions|Sex Disorders|Sexual Disorder, Physiological|Sexual Disorders, Physiological|Sexual Dysfunctions, Physiological
606369|C535500||Epileptic encephalopathy, Lennox-Gastaut type|Childhood Epileptic Encephalopathy with Diffuse Slow Spikes and Waves|Encephalopathy of childhood|Lennox-Gastaut syndrome|MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
C535995||Deafness hyperuricemia neurologic ataxia
C535994||Deafness enamel hypoplasia nail defects|Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects|Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects|Heimler syndrome|Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
C535996||Deafness nephritis ano rectal malformation|Dominant ano-rectal malformation, nephritis and nerve-deafness
C535998||Galactocele|Galactocoele|Galactocoele of childhood|Lacteal cyst|Lactocele
C564377||Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
C538209|117300||Dementia, familial Danish|CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS|Cerebral Amyloid Angiopathy, Itm2b-Related, 2|DEMENTIA, FAMILIAL DANISH|Familial Danish dementia|FDD|Heredopathia ophthalmootoencephalica|HOOE
C538088||Oculocerebrocutaneous syndrome|Delleman syndrome|Oculo-cerebro-cutaneous syndrome|Orbital cyst with cerebral and focal dermal malformations
C564375||Spastic Paraplegia 24, Autosomal Recessive
C538087||Distal Trisomy 10q Syndrome|Chromosome 10, distal trisomy 10q|Chromosome 10, Partial Trisomy 10q24-qter|Chromosome 10, Trisomy 10q2|Distal Duplication 10q
C563047||Cleft Palate-Lateral Synechia Syndrome|CPLS Syndrome
C564378||Spastic Paraplegia, Ataxia, And Mental Retardation
D000844||Ankylosis|Ankyloses
D012829||Silicosis|Silicoses
C538082||Chromosome 1, q42 11 q42 12 duplication|Duplication 1q42 11 q42 12|Trisomy 1q42 11 q42 12
C564717|300085||Cone-Rod Dystrophy, X-Linked, 2|COD2|CONE DYSTROPHY 2, X-LINKED|Cone Dystrophy, X-Linked, 2|CORDX2
C538081||Congenital dislocation of the patella|Congenital patellar dislocation
D016518|101000||Neurofibromatosis 2|2 Neurofibromatosis, Type|ACN|Acoustic Neurinoma, Bilateral|Acoustic Neurinomas, Bilateral|Acoustic Neurofibromatoses, Bilateral|Acoustic Neurofibromatosis, Bilateral|Acoustic Neuroma, Familial|Acoustic Neuromas, Familial|Acoustic Schwannoma, Bilateral|Acoustic Schwannomas, Bilateral|BANF|Bilateral Acoustic Neurinoma|Bilateral Acoustic Neurinomas|Bilateral Acoustic Neurofibromatoses|Bilateral Acoustic Neurofibromatosis|Bilateral Acoustic Schwannoma|Bilateral Acoustic Schwannomas|Central Neurofibromatoses|Central Neurofibromatosis|Central NF2 Neurofibromatoses|Central NF2 Neurofibromatosis|Familial Acoustic Neuroma|Familial Acoustic Neuromas|Neurinoma, Bilateral Acoustic|Neurinomas, Bilateral Acoustic|Neurofibromatoses, Bilateral Acoustic|Neurofibromatoses, Central|Neurofibromatoses, Central NF2|Neurofibromatoses, Type 2|Neurofibromatoses, Type II|Neurofibromatosis, Acoustic, Bilateral|Neurofibromatosis, Bilateral Acoustic|Neurofibromatosis, Central|Neurofibromatosis, Central NF2|Neurofibromatosis, Central, NF2|Neurofibromatosis, Central, NF 2|Neurofibromatosis, central type|Neurofibromatosis II|Neurofibromatosis IIs|Neurofibromatosis Type 2|Neurofibromatosis, Type 2|Neurofibromatosis Type II|Neurofibromatosis, Type II|Neuroma, Acoustic, Bilateral|Neuroma, Familial Acoustic|Neuromas, Familial Acoustic|NF2|NF2 (Neurofibromatosis 2)|NF2s (Neurofibromatosis 2)|Schwannoma, Acoustic, Bilateral|Schwannoma, Bilateral Acoustic|Schwannomas, Bilateral Acoustic|Type 2 Neurofibromatoses|Type 2 Neurofibromatosis|Type II Neurofibromatoses|Type II Neurofibromatosis
C538086||Chromosome 10 ring|Ring chromosome 10
614149||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9|ANONYCHIA-ONYCHOLYSIS, ISOLATED|NAIL DYSPLASIA|NDNC9|ONYCHODYSTROPHY
C538085||Chromosome 1, uniparental disomy 1q12 q21|Mosaic trisomy 1q12 q21|Uniparental disomy 1q12 q21
C538084||Chromosome 1, trisomy 1q42 qter|Duplication 1q42 qter|Trisomy 1q42 qter
C538083||Chromosome 1, trisomy 1q32 qter|Duplication 1q32 qter|Trisomy 1q32 qter
C564597|610283||Cone-Rod Dystrophy 10|CORD10
C535806||Moebius axonal neuropathy hypogonadism
C535809||Mollica Pavone Antener syndrome|Dwarfism, mental retardation, and eye abnormality|Mollica syndrome|Short stature, mental retardation and ocular alterations
D000849||Anomia|Amnesic Aphasia|Anomia, Color|Anomias, Color|Anomic Aphasia|Anomic Dysphasia|Anomic Dysphasias|Aphasia, Amnesic|Aphasia, Anomic|Aphasia, Nominal|Color Anomia|Color Anomias|Dysnomia|Dysnomias|Dysphasia, Anomic|Dysphasia, Nominal|Dysphasias, Anomic|Dysphasias, Nominal|Nominal Aphasia|Nominal Dysphasia|Nominal Dysphasias
C563655|610840||Mitral Valve Prolapse, Myxomatous 3|MMVP3|Myxomatous Mitral Valve Prolapse 3
125853|D003924||Diabetes Mellitus, Type 2|Adult-Onset Diabetes Mellitus|Diabetes Mellitus, Adult Onset|Diabetes Mellitus, Adult-Onset|Diabetes Mellitus, Ketosis Resistant|Diabetes Mellitus, Ketosis-Resistant|Diabetes Mellitus, Maturity Onset|Diabetes Mellitus, Maturity-Onset|Diabetes Mellitus, Noninsulin Dependent|Diabetes Mellitus, Noninsulin-Dependent|Diabetes Mellitus, Non Insulin Dependent|Diabetes Mellitus, Non-Insulin-Dependent|Diabetes Mellitus, Slow Onset|Diabetes Mellitus, Slow-Onset|Diabetes Mellitus, Stable|Diabetes Mellitus, Type II|Ketosis-Resistant Diabetes Mellitus|Maturity-Onset Diabetes|MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED|Maturity Onset Diabetes Mellitus|Maturity-Onset Diabetes Mellitus|MODY|NIDDM|Noninsulin-Dependent Diabetes Mellitus|Non-Insulin-Dependent Diabetes Mellitus|Slow-Onset Diabetes Mellitus|Stable Diabetes Mellitus|T2D|Type 2 Diabetes Mellitus
C535801||Spranger Schinzel Myers syndrome|Arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits|Cerebroarthrodigital syndrome
C563052||Digitorenocerebral Syndrome|Brachydactyly due to Absence of Distal Phalanges|Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome|DOOR Syndrome|Eronen Syndrome
C564383||Camptosynpolydactyly, Complex|Camptopolydactyly, Disorganization Type
C535800||Amyloidosis, Cerebral, with Spongiform Encephalopathy|Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits In CNS|Prion Dementia
C563051||Edinburgh Malformation Syndrome
C564382||Secretory Diarrhea, Myopathy, and Deafness
C535802||Sprengel deformity|High scapula|Maladie de Sprengel familiale|Sprengel&apos;s shoulder
C562718|611881||Glycogen Storage Disease XII|ALDOA Deficiency|Aldolase A Deficiency|Aldolase Deficiency, Red Cell|GSD12|GSD XII|Red Cell Aldolase Deficiency
D000853||Anophthalmos|Anophthalmia|Anophthalmias
D024801||Tauopathies|Tauopathy
C538098||Familial Paget&apos;s disease of bone|Paget disease of bone, type 1
C564385||Migraine, Familial Hemiplegic, 4
D000858||Anovulation|Anovulations
D000857||Olfaction Disorders|Anosmia|Cacosmia|Cacosmias|Dysosmia|Dysosmias|Olfaction Disorder|Paraosmia|Paraosmias|Smell Disorder|Smell Disorders
C564560|300220||Mental Retardation, X-Linked, Syndromic 10|CAMR|Chorioathetosis With Mental Retardation And Abnormal Behavior|Mental Retardation With Chorioathetosis And Abnormal Behavior|MRXS10
D000855||Anorexia|Anorexias
C538092||Pachygyria, frontotemporal|Autosomal recessive frontotemporal pachygyria
D011507||Proteinuria|Proteinurias
C538091||Kuzniecky syndrome|Pachygyria, mental retardation and epilepsy|Pachygyria with mental retardation and seizures
C536089|254300||Congenital myasthenic syndrome ib|CMS1B|CMS Ib|Congenital Myasthenic Syndrome Type Ib|LGM|Myasthenia, familial limb-girdle|Myasthenia, Limb-Girdle, Familial|MYASTHENIC MYOPATHY, FORMERLY
C538090||Ovarian epithelial cancer|Epithelial ovarian cancer|Ovarian cancer, epithelial
C538095||Pacman dysplasia|Epiphyseal stippling with osteoclastic hyperplasia|Pacman syndrome
C538094||Pachyonychia congenita recessive|Autosomal recessive pachyonychia congenita|Pachyonychia Congenita, Recessive
D012832||Silo Filler&apos;s Disease|Disease, Silo Filler|Disease, Silo Fillers|Disease, Silo Filler&apos;s|Disease, Silo Fillers&apos;|Silo Filler Disease|Silo Fillers Disease|Silo Fillers&apos; Disease
C535816||Nevi flammei, familial multiple|Port-wine stain familial multiple
C566902|611631||Epilepsy, Familial Temporal Lobe, 4|Epilepsy, Occipitotemporal Lobe, And Migraine With Aura|EPOLM|ETL4
C535815||Neutropenia, severe chronic|Leukopenia, benign familial|Neutropenia, chronic familial
D012830||Silicotuberculosis|Silicotuberculoses
D011502||Protein-Energy Malnutrition|Malnutrition, Protein-Calorie|Malnutrition, Protein-Energy|Malnutritions, Protein-Energy|Marasmus|Protein Calorie Malnutrition|Protein-Calorie Malnutrition|Protein Energy Malnutrition
C535818||Pseudo-Zellweger syndrome|Pseudo Zellweger syndrome leukodystrophy
C535817||Pruritic urticarial papules plaques of pregnancy|Polymorphic eruption of pregnancy|Pruritic Urticarial Papules And Plaques of Pregnancy|Pruritic urticarial papules and plaques of pregnancy, familial
182290|D058496||Smith-Magenis Syndrome|17p11.2 Monosomy|Chromosome 17p11.2 Deletion Syndrome|CHROMOSOME 17p11.2 DELETION SYNDROME SMITH-MAGENIS CHROMOSOME REGION, INCLUDED|SMCR, INCLUDED|Smith Magenis Syndrome|SMS|Syndrome, Smith-Magenis
612371|C567529||Major Affective Disorder 7|BIPOLAR AFFECTIVE DISORDER|MAFD7
C564650|606864||Carney-Stratakis Syndrome|CARNEY-STRATAKIS SYNDROME|GIST|Paraganglioma and Gastric Stromal Sarcoma|Paraganglioma and Gastrointestinal Stromal Tumor
C566342|603694||Diabetes Mellitus, Noninsulin-Dependent, 3|NIDDM3|Noninsulin-Dependent Diabetes Mellitus 3
C535810||Moloney syndrome|Choroidal atrophy alopecia|Regional choroidal atrophy and alopecia
C564395||Spinocerebellar Ataxia with Epilepsy|Myoclonic Epilepsy Myopathy Sensory Ataxia
C535812||Macrosomia obesity macrocephaly ocular abnormalities|Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)|Macrosomia, Obesity, Macrocephaly, And Ocular Abnormalities|MOMO syndrome
194300||WOOLLY HAIR, AUTOSOMAL DOMINANT|ADWH
C564393||Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2|VKCFD2
C538202|609941||Deafness, autosomal recessive 51|DFNB51
C535814||Neurosarcoidosis|Nervous system sarcoidosis
202010|C535978||Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency|11-Beta-hydroxylase deficiency|11 Beta Hydroxylase Deficiency|11B Hydroxylase Deficiency|Adrenal hyperplasia 4|Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency|Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency|Adrenal Hyperplasia, Hypertensive Form|Adrenal Hyperplasia IV|Congenital adrenal hyperplasia type 4|Hypertensive form of adrenal hyperplasia|P450C11B1 deficiency|Steroid 11 Beta Hydroxylase Deficiency|Steroid 11-Beta-Hydroxylase Deficiency
C565687||Collagenosis, Familial Reactive Perforating
C563024||Spastic Pseudosclerosis|Corticopallidodegeneration|Disseminated Encephalomyelopathy
D000820||Animal Diseases|Diseases, Animal
C564353||Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy
C565279|605845||Dermatitis, Atopic, 6|ATOD6
C563028||Splenic Hypoplasia|Asplenia, Familial|Hyposplenia, Isolated Congenital
C565684||Combined Inflammatory and Immunologic Defect
C564357||Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
C565686||Coloboma of Macula and Skeletal Anomalies
C564356||Acute Tubulointerstitial Nephritis
120050||COXSACKIEVIRUS B3 SUSCEPTIBILITY|CB3S|CXB3S
D012805||Sickle Cell Trait|Cell Trait, Sickle|Cell Traits, Sickle|Sickle Cell Traits|Trait, Sickle Cell|Traits, Sickle Cell
D012806||Siderosis|Sideroses
611094|C567015||Mental Retardation, Autosomal Recessive 8|MRT8
C564256|608340||Charcot-Marie-Tooth Disease, Recessive Intermediate A|Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A|CMTRIA|RI-CMTA
614129||PERRAULT SYNDROME 3|DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY|DFNB81, FORMERLY|PRLTS3
D051359|267700||Lymphohistiocytosis, Hemophagocytic|Erythrophagocytic Lymphohistiocytoses, Familial|Erythrophagocytic Lymphohistiocytosis, Familial|Familial Erythrophagocytic Lymphohistiocytoses|Familial Erythrophagocytic Lymphohistiocytosis|Familial Hemophagocytic Histiocytoses|Familial Hemophagocytic Histiocytosis|Familial Hemophagocytic Lymphocytoses|Familial Hemophagocytic Lymphocytosis|Familial Hemophagocytic Lymphohistiocytoses|Familial Hemophagocytic Lymphohistiocytosis|Familial Hemophagocytic Reticuloses|Familial Hemophagocytic Reticulosis|Familial Histiocytic Reticuloses|Familial Histiocytic Reticulosis|FEL|FHL|FHL1|FHLH|Hemophagocytic Histiocytoses, Familial|Hemophagocytic Histiocytosis, Familial|Hemophagocytic Hymphohistiocytoses, Primary|Hemophagocytic Hymphohistiocytosis, Primary|Hemophagocytic Lymphocytoses, Familial|Hemophagocytic Lymphocytosis, Familial|Hemophagocytic Lymphohistiocytoses|Hemophagocytic Lymphohistiocytoses, Familial|Hemophagocytic Lymphohistiocytoses, Primary|Hemophagocytic Lymphohistiocytosis|Hemophagocytic Lymphohistiocytosis, Familial|Hemophagocytic Lymphohistiocytosis Familial 1|Hemophagocytic Lymphohistiocytosis Familial -1|Hemophagocytic Lymphohistiocytosis, Familial, 1|Hemophagocytic Lymphohistiocytosis, Primary|Hemophagocytic Reticuloses, Familial|Hemophagocytic Reticulosis, Familial|Hemophagocytic Syndrome|Hemophagocytic Syndrome, Infection Associated|Hemophagocytic Syndrome, Infection-Associated|Hemophagocytic Syndrome, Reactive|Hemophagocytic Syndromes|Histiocytic Reticuloses, Familial|Histiocytic Reticulosis, Familial|Histiocytoses, Familial Hemophagocytic|Histiocytosis, Familial Hemophagocytic|HLH1|HPLH|HPLH1|Hymphohistiocytoses, Primary Hemophagocytic|Hymphohistiocytosis, Primary Hemophagocytic|Infection-Associated Hemophagocytic Syndrome|Lymphocytoses, Familial Hemophagocytic|Lymphocytosis, Familial Hemophagocytic|Lymphohistiocytoses, Familial Erythrophagocytic|Lymphohistiocytoses, Familial Hemophagocytic|Lymphohistiocytoses, Hemophagocytic|Lymphohistiocytoses, Primary Hemophagocytic|Lymphohistiocytosis, Familial Erythrophagocytic|Lymphohistiocytosis, Familial Hemophagocytic|Lymphohistiocytosis, Primary Hemophagocytic|Primary Hemophagocytic Hymphohistiocytoses|Primary Hemophagocytic Hymphohistiocytosis|Primary Hemophagocytic Lymphohistiocytoses|Primary Hemophagocytic Lymphohistiocytosis|Reactive Hemophagocytic Syndrome|Reticuloses, Familial Hemophagocytic|Reticuloses, Familial Histiocytic|Reticulosis, Familial Hemophagocytic|Reticulosis, Familial Histiocytic
C535827||Pseudohyperkalemia Cardiff|Cryohydrocytosis|Stomatocytosis, cold-sensitive
C535826||Pseudodiastrophic dysplasia|Pseudodiastrophic dwarfism
C535829||Pseudotrisomy 13 syndrome|Holoprosencephaly polydactyly syndrome|Holoprosencephaly-Polydactyly Syndrome|Pseudo trisomy 13 syndrome
C566472|610475||Pigmented Nodular Adrenocortical Disease, Primary, 2|Cushing Syndrome, Adrenal, Due To PPNAD2|Pigmented Micronodular Adrenocortical Disease, Primary, 2|PPNAD2
C535828||Pseudoinflammatory fundus dystrophy, Finnish type|Fundus dystrophy, pseudoinflammatory recessive form|Fundus Dystrophy, Pseudoinflammatory, Recessive Form|Pseudoinflammatory fundus dystrophy|Pseudoinflammatory fundus dystrophy, Lavia type
D052065||Vaginismus
D012804||Sick Sinus Syndrome|Dysfunction, Sinus Node|Dysfunctions, Sinus Node|Sick Sinus Node Syndrome|Sinus Node Disease|Sinus Node Diseases|Sinus Node Dysfunction|Syndrome, Sick Sinus
146350|C564145||Hypophosphatemic Bone Disease|HBD
C535821||Pseudoainhum
C565693||Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
C535820||Pseudoachondroplastic dysplasia 2|Recessive pseudoachondroplasia|Spondyloepiphyseal dysplasia pseudoachondroplastic 2
C535823||Pseudoaminopterin syndrome|Aminopterin syndrome sine aminopterin
C566928|611521||Tyrosine Kinase 2 Deficiency|HIES with Atypical Mycobacteriosis, Autosomal Recessive|Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive|TYK2 Deficiency
C535824||Pseudoangiomatous stromal hyperplasia|Mammary pseudoangiomatous stromal hyperplasia|Pseudoangiomatous stromal hyperplasia of the breast
C564366||Niemann-Pick Disease, Type F
C565699||NBIA2B|Neuroaxonal Dystrophy, Atypical|Neurodegeneration With Brain Iron Accumulation 2B|Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related
C565696||Kallmann Syndrome 4
C563037||Arthritis, Sacroiliac
C564368||Epidermolysis Bullosa Simplex Superficialis
C535575|275355||Carcinoma, squamous cell of head and neck|HNSCC|Squamous Cell Carcinoma, Head And Neck|Squamous cell carcinoma of the head and neck
D012818||Signs and Symptoms, Respiratory
604173|C565820||Poikiloderma with Neutropenia|PN|Poikiloderma with Neutropenia, Clericuzio-Type
D012816||Signs and Symptoms|Symptoms and Signs
D012817||Signs and Symptoms, Digestive
C563908|608565||Deafness, Autosomal Recessive 35|DFNB35
D012810||Sigmoid Diseases|Colon Disease, Sigmoid|Colon Diseases, Sigmoid|Disease, Sigmoid|Disease, Sigmoid Colon|Diseases, Sigmoid|Diseases, Sigmoid Colon|Sigmoid Colon Disease|Sigmoid Colon Diseases|Sigmoid Disease
C535838||Pancreatic islet cell tumors|Islet of Langerhans tumor
D012811||Sigmoid Neoplasms|Cancer of Sigmoid|Cancer of the Sigmoid|Cancer, Sigmoid|Cancer, Sigmoid Colon|Colon Cancer, Sigmoid|Colon Neoplasms, Sigmoid|Neoplasm, Sigmoid|Neoplasm, Sigmoid Colon|Neoplasms, Sigmoid|Neoplasms, Sigmoid Colon|Sigmoidal Cancer|Sigmoid Cancer|Sigmoid Colon Cancer|Sigmoid Colon Neoplasm|Sigmoid Colon Neoplasms|Sigmoid Neoplasm
C535837||Pancreatic carcinoma, familial|Familial Pancreatic carcinoma
C535839||Pancreatic lipomatosis duodenal stenosis|Pancreatic lipomatosis and duodenal atresia
D012544|181440||Scheuermann Disease|Adolescent Kyphoses|Adolescent Kyphosis|Juvenile Kyphoses|Juvenile Kyphoses, Scheuermann|Juvenile Kyphosis|Juvenile Kyphosis, Scheuermann|Juvenile Osteochondrosis of Spine|Kyphoses, Adolescent|Kyphoses, Juvenile|Kyphoses, Scheuermann|Kyphoses, Scheuermann Juvenile|Kyphoses, Scheuermann&apos;s|Kyphosis, Adolescent|Kyphosis, Juvenile|Kyphosis, Scheuermann|Kyphosis, Scheuermann Juvenile|Kyphosis, Scheuermann&apos;s|Scheuermann Juvenile Kyphoses|Scheuermann Juvenile Kyphosis|Scheuermann Kyphoses|Scheuermann Kyphosis|Scheuermann&apos;s Disease|Scheuermanns Disease|Scheuermann&apos;s Kyphoses|Scheuermann&apos;s Kyphosis|Scheuermanns Kyphosis|SPINAL OSTEOCHONDROSIS|Spine Juvenile Osteochondroses|Spine Juvenile Osteochondrosis
C566400|603204||Epilepsy, Nocturnal Frontal Lobe, Type 2|ENFL2|EPILEPSY, NOCTURNAL FRONTAL LOBE, 2
D000839||Aniseikonia
C535832||Pulmonary alveolar proteinosis, congenital|Congenital pulmonary alveolar proteinosis
C535831||Pterygium colli mental retardation digital anomalies|Khalifa Graham syndrome|Pterygium colli and mental retardation with facial and digital anomalies
C535833||Pulmonary edema of mountaineers|High altitude pulmonary hypertension
603467||FANCONI ANEMIA, COMPLEMENTATION GROUP F|FANCF
C535836||Pancreatic cancer, adult
C564370||Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
C535835||Schwartz Cohen-Addad Lambert syndrome|Congenital melanocytosis with myelomeningocele and hydrocephalus
C538046||Chromosome 17 ring|Ring chromosome 17
C565665||Craniosynostosis with Fibular Aplasia
C563002||Opticocochleodentate Degeneration
D016393||Lymphoma, B-Cell|B Cell Lymphoma|B-Cell Lymphoma|B-Cell Lymphomas|Lymphoma, B Cell|Lymphomas, B-Cell
D018500|125800||Diabetes Insipidus, Nephrogenic|Acquired Nephrogenic Diabetes Insipidus|ADH-Resistant Diabetes Insipidus|Congenital Nephrogenic Diabetes Insipidus|Diabetes Insipidus, Nephrogenic, Autosomal|Diabetes Insipidus, Nephrogenic, Type 1|Diabetes Insipidus, Nephrogenic, Type I|Diabetes Insipidus, Nephrogenic, Type II|Diabetes Insipidus, Nephrogenic, X-Linked|Diabetes Insipidus Renalis|NDI|Nephrogenic Diabetes Insipidus|Nephrogenic Diabetes Insipidus, Type I|Nephrogenic Diabetes Insipidus, Type II|Vasopressin-Resistant Diabetes Insipidus
C538045||Chromosome 17 deletion|17p- Syndrome|Chromosome 17p Deletion Syndrome|Deletion 17p Syndrome|Interstitial deletion 17p|Partial Monosomy 17p
C566997||Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts
C565666||Craniosynostosis with Anomalies of the Cranial Base and Digits
C538044||Chromosome 17 trisomy|Chromosome 17 duplication|Trisomy 17|Trisomy 17 mosaicism
C562594|232220||Glycogen Storage Disease IB|Glucose-6-Phosphate Transport Defect|GSD1B|GSD Ib
C565667||Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
C538043||Chromosome 16, uniparental disomy|Uniparental disomy of 16
C567857|612937||Congenital Disorder of Glycosylation, Type Io|CDG1(DPM3)|CDG1o|CDGIo|CDG Io
C565661||Cutis Verticis Gyrata and Mental Deficiency
C538049||Deafness oligodontia syndrome|Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|Congenital profound sensorineural deafness and oligodontia|Deafness-Oligodontia Syndrome
C566993||Ataxia, Spastic, 1, Autosomal Dominant
C538048||Chromosome 17, trisomy 17p|Duplication 17p|Trisomy 17p
C566994||Tooth Agenesis, Selective, With Orofacial Cleft
C565663||Craniosynostosis Mental Retardation Clefting Syndrome
C538047||Chromosome 17, deletion 17q23 q24|Deletion 17q23 q24|Monosomy 17q23 q24
C566995||Hypodontia Oligodontia with Orofacial Cleft
C565664||Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
C563003||Pallidopontonigral Degeneration
C563009||Glycinuria with or without Oxalate Urolithiasis|Glycinuria with or without Oxalate Nephrolithiasis|Iminoglycinuria Type II
145000|C564166||Hyperparathyroidism 1|Familial Isolated Hyperparathyroidism|HRPT1|Hyperparathyroidism, Familial Isolated Primary|HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY;FIHP PARATHYROID ADENOMA, FAMILIAL, INCLUDED|Parathyroid Adenoma, Familial
C563007||Hypochondrogenesis
263000|C562470||Interstitial Pneumonitis, Desquamative, Familial|DIP|ILD, DESQUAMATIVE|Interstitial Lung Disease, Desquamative|Pneumonia, Desquamative Interstitial, Familial|Pneumonitis, Desquamative Interstitial, Familial
C538042||Chromosome 16, trisomy 16q|Duplication 16q|Trisomy 16q
C538041||Chromosome 16, trisomy|Mosaic trisomy 16|Trisomy 16
C538040||Chromosome 15q, trisomy|Duplication 15q|Trisomy 15q
C566815|169100||Char syndrome|CHAR|Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
D056807|207900||Argininosuccinic Aciduria|Acidemia, Argininosuccinate|Acidemias, Argininosuccinate|Aciduria, Argininosuccinic|Acidurias, Argininosuccinic|Arginino Succinase Deficiencies|Argininosuccinase Deficiency|Arginino Succinase Deficiency|Argininosuccinate Acidemia|Argininosuccinate Acidemias|Argininosuccinate Lyase Deficiencies|Argininosuccinate Lyase Deficiency|Argininosuccinic Acidemia|Argininosuccinic Acid Lyase Deficiency|Argininosuccinicaciduria|Argininosuccinicacidurias|Argininosuccinic Acidurias|Argininosuccinyl-Coa Lyase Deficiency|Arginosuccinase Deficiency|ASA Deficiencies|ASA Deficiency|Asauria|ASL Deficiencies|ASL Deficiency|Deficiencies, Arginino Succinase|Deficiencies, Argininosuccinate Lyase|Deficiencies, ASA|Deficiencies, ASL|Deficiency, Arginino Succinase|Deficiency, Argininosuccinate Lyase|Deficiency, ASA|Deficiency, ASL|Inborn Error of Urea Synthesis, Arginino Succinic Type|Urea Cycle Disorder, Arginino Succinase Type
D003085||Colic|Abdominal Cramp|Abdominal Cramps|Colic, Infantile|Colicky Pain|Cramp, Abdominal|Cramps, Abdominal|Infantile Colic|Pain, Colicky
C567650|613308||Diamond-Blackfan Anemia 9|DBA9
261800|D010855||Pierre Robin Syndrome|Glossoptosis, Micrognathia, and Cleft Palate|Pierre Robin Sequence|Pierre Robin&apos;s Sequence|Pierre Robins Sequence|Pierre-Robin Syndrome|Robin Syndrome, Pierre|Sequence, Pierre Robin|Sequence, Pierre Robin&apos;s|Syndrome, Pierre Robin|Syndrome, Pierre-Robin
612554|C567259||Myopia 16|MYOPIA 16, AUTOSOMAL DOMINANT|MYP16
D016388||Tooth Loss|Loss, Tooth
C564683|606664||Glycine N-Methyltransferase Deficiency|Deficiency of Methionine Adenosyltransferase|GNMT Deficiency|Hepatic Methionine Adenosyltransferase Deficiency|Hypermethioninemia|Methioninemia|S-Adenosylhomocysteine Hydrolase Deficiency
C563013||Membranous Obstruction of Inferior Vena Cava
C536017|200610||Achondrogenesis type 2|ACG2|Achondrogenesis, Langer-Saldino type|ACHONDROGENESIS, TYPE IB, FORMERLY HYPOCHONDROGENESIS, INCLUDED|Achondrogenesis, Type II|Chondrogenesis imperfecta|Langer-Saldino achondrogenesis
C564344||Leukodystrophy, Dysmyelinating, with Oligodontia|Dentoleukoencephalopathy
C538056||Agammaglobulinemia, non-Bruton type|Agammaglobulinemia, autosomal recessive|Agammaglobulinemia due to early proB cell defect|Agammaglobulinemia, Non-Bruton Type, Autosomal Recessive
C538055||Agammaglobulinemia, microcephaly, and severe dermatitis
C565678||Convulsive Disorder, Familial, with Prenatal or Early Onset
C564342||Noonan-Like Syndrome With Loose Anagen Hair
C538054||Aerobic actinomyces infection
C565679||Contractures, Congenital, Torticollis, and Malignant Hyperthermia
C565672||Cranial Nerves, Recurrent Paresis Of
C563017||Gigantiform Cementoma, Familial|Cemental Dysplasia, Periapical|Cementomas, Familial Multiple
C565673||Cranial Nerves, Congenital Paresis Of
C538059||Agnathia-microstomia-synotia|Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment|Plurimalformative syndrome
C565674||Cortical Blindness, Retardation, and Postaxial Polydactyly
C538058||Aganglionosis, total intestinal|Near-total intestinal aganglionosis
C563014||Facial Hemihypertrophy|Hemifacial Hyperplasia
C564345||Parkinson Disease 11|PARK11
D047508||Massive Hepatic Necrosis|Acute Yellow Atrophies|Acute Yellow Atrophy|Acute Yellow Atrophy of Liver|Hepatic Necrosis, Massive|Yellow Atrophy, Acute
D064068||Collagenous Sprue|Collagenous Sprues|Sprue, Collagenous|Sprues, Collagenous
D038921|303600||Coffin-Lowry Syndrome|CLS|Coffin Lowry Syndrome|Coffin Syndrome|Mental Retardation with Osteocartilaginous Abnormalities|Syndrome, Coffin|Syndrome, Coffin-Lowry
D003398|123100||Craniosynostoses|Acrocephaly|Anterior Plagiocephalies, Synostotic|Anterior Plagiocephaly, Synostotic|Brachycephalies|Brachycephaly|Coronal Synostoses, Unilateral|Coronal Synostosis, Unilateral|Craniostenoses|Craniostenosis|Craniosynostoses, Lambdoidal|Craniosynostosis|CRANIOSYNOSTOSIS 1|CRANIOSYNOSTOSIS 4|Craniosynostosis, Lambdoidal|Craniosynostosis Plagiocephalies|Craniosynostosis Plagiocephaly|Craniosynostosis, Type 1|CRS|CRS1|CRS4|Lambdoidal Craniosynostoses|Lambdoidal Craniosynostosis|Lambdoid Synostoses|Lambdoid Synostosis|Metopic Synostoses|Metopic Synostosis|Oxycephaly|Plagiocephalies, Craniosynostosis|Plagiocephalies, Synostotic|Plagiocephalies, Synostotic Anterior|Plagiocephalies, Synostotic Posterior|Plagiocephaly, Craniosynostosis|Plagiocephaly, Synostotic|Plagiocephaly, Synostotic Anterior|Plagiocephaly, Synostotic Posterior|Posterior Plagiocephalies, Synostotic|Posterior Plagiocephaly, Synostotic|Sagittal Synostoses|Sagittal Synostosis|Scaphocephalies|Scaphocephaly|Synostoses, Lambdoid|Synostoses, Metopic|Synostoses, Sagittal|Synostoses, Unilateral Coronal|Synostosis, Lambdoid|Synostosis, Metopic|Synostosis, Sagittal|Synostosis, Unilateral Coronal|Synostotic Anterior Plagiocephalies|Synostotic Anterior Plagiocephaly|Synostotic Plagiocephalies|Synostotic Plagiocephaly|Synostotic Posterior Plagiocephalies|Synostotic Posterior Plagiocephaly|Trigonocephalies|Trigonocephaly|Unilateral Coronal Synostoses|Unilateral Coronal Synostosis
C535424|176860||Congenital thrombotic disease, due to Protein C deficiency|PROC deficiency|PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED, INCLUDED|PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT|THPH3|THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT|Thrombophilia, hereditary, due to pc deficiency
C536771|601706||Yemenite deaf-blind hypopigmentation syndrome|Warburg Thomsen syndrome|Yemenite (Warburg) deaf-blind hypopigmentation syndrome
C538051||Adrenomyodystrophy
D003095||Collagen Diseases|Collagen Disease|Disease, Collagen|Diseases, Collagen
D003092||Colitis|Colitides
604772||VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY|CPVT1|VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC|VTSIP
C565681||Terminal Transverse Defects of Arm
C565682||Amputation, Congenital
121050|C536211||Congenital contractural arachnodactyly|Arachnodactyly, contractural Beals type|Arthrogryposis, Distal, Type 9|Beals-Hecht syndrome|Beals syndrome|CCA|Contractural Arachnodactyly, Congenital|Contractures, multiple with arachnodactyly|DA9|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
C566930|611498||Nephronophthisis 7|NPHP7
D016399||Lymphoma, T-Cell|Lymphomas, T-Cell|Lymphoma, T Cell|T Cell Lymphoma|T-Cell Lymphoma|T-Cell Lymphomas
C566975||Febrile Convulsions, Familial, 8
C565644||Deafness, Conductive, with Malformed External Ear
C565645||Deafness, Cochlear, with Myopia and Intellectual Impairment
C566557|613313||Hemochromatosis, Type 2B|HFE2B
C563854|608807||Muscular Dystrophy, Limb-Girdle, Type 2J|LGMD2J
C538065||Frontonasal dysplasia|Frontonasal Malformation|Frontorhiny|Median facial cleft syndrome
C565646||Deafness, Congenital, with Total Albinism
D015043||Zollinger-Ellison Syndrome|Syndrome, Zollinger-Ellison|Zollinger Ellison Syndrome
C565640||Deafness, Neural, Congenital Moderate
C564680|606675||Inflammatory Bowel Disease 4|IBD4
C564313||Epilepsy, Myoclonic, Benign Adult Familial, Type 2|BAFME2|Benign Adult Familial Myoclonic Epilepsy 2|Cortical Myoclonus And Epilepsy, Autosomal Dominant|Epilepsy, Familial Adult Myoclonic 2|FAME2
C538069||Fryns Hofkens Fabry syndrome|Ulna hypoplasia|Ulnar hypoplasia|Upper limb mesomelic dysplasia
C566973||Dystonia, Focal, Task-Specific|Focal Hand Dystonia|Focal Task-Specific Dystonia|Occupational Cramp|Occupational Dystonia|Task-Specific Dystonia|Task-Specific Focal Dystonia
C565642||Deafness, Congenital, with Vitiligo and Achalasia
C564312||Hypotrichosis, Localized, Autosomal Recessive 1|Hypotrichosis, Localized, Autosomal Recessive
C564317||Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
C566978||COPD, Severe Early-Onset
C538063||Fronto-facio-nasal dysplasia|Fronto-facio-nasal dysostosis|Frontofacionasal Dysostosis|Frontofacionasal Dysplasia
C538062||Frints De Smet Fabry Fryns syndrome|Symbrachydactyly of the hand and foot
C565649||Deafness, Congenital, and Familial Myoclonic Epilepsy
C538061||Friedreich ataxia congenital glaucoma|Congenital glaucoma and Friedreich ataxia|Friedreich Ataxia and Congenital Glaucoma
D004393||Dwarfism, Pituitary|Dwarfism, Growth Hormone Deficiency|Growth Hormone Deficiency Dwarfism|Hypophysial Dwarf|Hyposomatotrophic Dwarfism|Isolated GH Deficiency|Isolated Growth Hormone Deficiency|Isolated HGH Deficiency|Isolated Human Growth Hormone Deficiency|Isolated Somatotropin Deficiency|Isolated Somatotropin Deficiency Disorder|Nanism, Pituitary|Pituitary Dwarf|Pituitary Dwarfism|Pituitary Nanism
D004392||Dwarfism|Nanism
C536048|610682||Osteogenesis imperfecta, type 7|OI2B, FORMERLY|OI7|OI, TYPE VII|OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY|OSTEOGENESIS IMPERFECTA, TYPE VII
C536213|606785||Crigler Najjar syndrome, type 2|Crigler-Najjar Syndrome, Type II|HBLRCN2|HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
D028361||Mitochondrial Diseases|Deficiencies, Oxidative Phosphorylation|Deficiencies, Respiratory Chain|Deficiency, Oxidative Phosphorylation|Deficiency, Respiratory Chain|Disease, Mitochondrial|Disorder, Mitochondrial|Disorders, Mitochondrial|Electron Transport Chain Deficiencies, Mitochondrial|Mitochondrial Disease|Mitochondrial Disorder|Mitochondrial Disorders|Mitochondrial Electron Transport Chain Deficiencies|Mitochondrial Respiratory Chain Deficiencies|Oxidative Phosphorylation Deficiencies|Oxidative Phosphorylation Deficiency|Phosphorylation Deficiencies, Oxidative|Phosphorylation Deficiency, Oxidative|Respiratory Chain Deficiencies, Mitochondrial|Respiratory Chain Deficiency
D017699||Pelvic Pain|Pain, Pelvic|Pains, Pelvic|Pelvic Pains
D016369||Smear Layer|Layer, Smear
D017695||Soft Tissue Injuries|Injuries, Soft Tissue|Injury, Soft Tissue|Soft Tissue Injury
D017696||Myopathies, Nemaline|Adult Onset Nemaline Myopathy|Autosomal Dominant Nemaline Myopathy|Autosomal Recessive Nemaline Myopathy|Childhood Onset Nemaline Myopathy|Late Onset Nemaline Myopathy|Myopathies, Rod|Myopathies, Rod-Body|Myopathy, Nemaline|Myopathy, Rod|Myopathy, Rod Body|Myopathy, Rod-Body|Nemaline Body Disease|Nemaline Myopathies|Nemaline Myopathy|Nemaline Myopathy, Adult Onset|Nemaline Myopathy, Autosomal Dominant|Nemaline Myopathy, Autosomal Recessive|Nemaline Myopathy, Childhood Onset|Nemaline Myopathy, Late Onset|Nemaline Rod Disease|Rod Body Disease|Rod-Body Myopathies|Rod Body Myopathy|Rod-Body Myopathy|Rod Myopathies|Rod Myopathy
C538079||Charcot-Marie-Tooth disease with ptosis and parkinsonism
C566985||Microphthalmia, Syndromic 10|MCOPS10|Microphthalmia and Brain Atrophy
C538078||Charcot-Marie-Tooth disease and deafness|Deafness with Charcot-Marie-Tooth Disease|Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers
C565655||Cystinosis, Infantile Nephropathic
C538077||Charcot Marie Tooth type 1 aplasia cutis congenita|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita
C566988||Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
C565657||Cystic Kidney Disease with Ventriculomegaly
142330|C564190||Hepatic Adenomas, Familial|Liver Cell Adenomas, Familial
C566981||Creutzfeldt-Jakob Disease, Heidenhain Variant
C564325||Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k
C565652||Cystinuria, Type A|Cystinuria, Type A/B|Cystinuria, Type B
D015051||Zygomatic Fractures|Fractures, Zygomatic|Fracture, Zygomatic|Zygomatic Fracture
C564323||Neuroticism
C538071||Fuchs atrophia gyrata chorioideae et retinae|Fuchs gyrate atrophy|Fuchs gyrate atrophy of the choroid and retina
C538070||Fryns syndrome|Diaphragmatic hernia, abnormal face, and distal limb anomalies|Moerman Van den berghe Fryns syndrome
C564329||Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
C538075||Chang Davidson Carlson syndrome
C566989||Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting
C565658||Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
C538074||Curly hair-ankyloblepharon-nail dysplasia syndrome|CHANDS
C565659||Cysteine Peptiduria
182230|C531815||Hypopituitarism and septooptic &apos;dysplasia&apos;|CPHD5, INCLUDED|DE MORSIER SYNDROME PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED|GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED|SEPTOOPTIC DYSPLASIA
C538072||Cervical ribs sprengel anomaly anal atresia urethral obstruction|Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction|Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction
D003072||Cognition Disorders|Disorder, Cognition|Disorders, Cognition|Overinclusion
D003074||Solitary Pulmonary Nodule|Coin Lesion, Pulmonary|Coin Lesions, Pulmonary|Lesion, Pulmonary Coin|Lesions, Pulmonary Coin|Nodule, Solitary Pulmonary|Nodules, Solitary Pulmonary|Pulmonary Coin Lesion|Pulmonary Coin Lesions|Pulmonary Nodule, Solitary|Pulmonary Nodules, Solitary|Solitary Pulmonary Nodules
C565633|221900||Retinal Nonattachment, Nonsyndromic Congenital|Detachment of Retina, Congenital|NCRNA|RETINAL DETACHMENT, CONGENITAL|RNANC
D015047||Zoonoses|Diseases, Zoonotic|Diseases, Zoonotic Infectious|Disease, Zoonotic|Disease, Zoonotic Infectious|Infections, Zoonotic|Infection, Zoonotic|Infectious Diseases, Zoonotic|Infectious Disease, Zoonotic|Zoonotic Disease|Zoonotic Diseases|Zoonotic Infection|Zoonotic Infections|Zoonotic Infectious Disease|Zoonotic Infectious Diseases
C565660||Cyanosis and Hepatic Disease
D064090||Intraocular Lymphoma|Intraocular Lymphomas|Lymphoma, Intraocular|Lymphomas, Intraocular
611277|C565811||Generalized Epilepsy With Febrile Seizures Plus, Type 3|FEB8, INCLUDED|GEFSP3|GEFS, Type 3|GEFS+, TYPE 3;GEFS+3 FEBRILE SEIZURES, FAMILIAL, 8, INCLUDED
C567097|611722||Krabbe Disease, Atypical, due to Saposin A Deficiency|Saposin A Deficiency
C540322||Hemorrhagic jaundice|Icterohemorrhagic fever
C565621||Disseminated Sclerosis with Narcolepsy
C538000||Dystelephalangy|Kirner deformity
D017682||Myocardial Stunning|Hibernation, Myocardial|Myocardial Hibernation|Myocardium, Stunned|Stunned Myocardium|Stunning, Myocardial
C565624||2,4-Dienoyl-CoA Reductase Deficiency
C538004||Dystonia musculorum deformans 4|Dystonia 4, Torsion, Autosomal Dominant|Torsion dystonia 4, autosomal dominant type
C566950||Hypotrichosis, Localized, Autosomal Recessive, 3
C565620||Diverticulosis, Small Intestinal
D004368||Dry Socket|Alveolalgia|Alveolalgias|Alveolar Osteitides|Alveolar Osteitis|Alveolar Periostitides|Alveolar Periostitis|Alveolitis Sicca Dolorosa|Dry Sockets|Osteitides, Alveolar|Osteitis, Alveolar|Periostitides, Alveolar|Periostitis, Alveolar|Socket, Dry|Sockets, Dry
C566956||Ataxia, Spastic, 3, Autosomal Recessive|Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
C565626||Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
600628|D058247||Loose Anagen Hair Syndrome|Anagen Syndrome, Loose|Anagen Syndromes, Loose|Loose Anagen Syndrome|Loose Anagen Syndromes|Syndrome, Loose Anagen|Syndromes, Loose Anagen
C565627||Trichohepatoenteric Syndrome|Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa|Diarrhea, Syndromic
304400|C536424||Progressive hearing loss stapes fixation|Deafness 3, conductive, with stapes fixation|Deafness, Conductive, with Stapes Fixation|Deafness, mixed, with perilymphatic gusher|Deafness, X-Linked 2|DFN3|DFNX2|Nance deafness|Perilymphatic gusher-deafness syndrome|Sensorineural deafness, profound, with or without a conductive component|Sensorineural Deafness, Profound, with or without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear
C538374|602485||Hyperinsulinemic hypoglycemia, familial, 3|HHF3
D015012||Yersinia pseudotuberculosis Infections|Infections, Yersinia pseudotuberculosis|Pasteurella Pseudotuberculoses|Pasteurella Pseudotuberculosis|Pseudotuberculoses, Pasteurella|Pseudotuberculosis, Pasteurella
D017674||Hypophosphatemia|Hypophosphatemias
D017675||CREST Syndrome|Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia|Calcinosis-Raynaud Phenomenon-Sclerodactyly-Telangiectasia|Calcinosis, Raynaud&apos;s phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome|CREST Syndromes|CRST Syndrome|CRST Syndromes|Phenomenon-Sclerodactyly-Telangiectasia, Calcinosis-Raynaud|Syndrome, CREST|Syndrome, CRST
D017676||Lichen Planus, Oral|Oral Lichen Planus
103580||PSEUDOHYPOPARATHYROIDISM, TYPE IA|ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE|PHP1A|PHP IA
C565632||Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification
D006502|600880||Budd-Chiari Syndrome|BDCHS|Budd Chiari Syndrome|Chiari&apos;s Syndrome|Chiaris Syndrome|Chiari Syndrome|Hepatic Vein Thromboses|Hepatic Vein Thrombosis|Hepatic Venous Outflow Obstruction|MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED|MOVC, INCLUDED|Thromboses, Hepatic Vein|Thrombosis, Hepatic Vein|Vein Thromboses, Hepatic|Vein Thrombosis, Hepatic
C538011||Eales disease|Idiopathic obliterative vasculopathy|Idiopathic recurrent vitreal hemorrhage
C538010||Eagle syndrome|Eagle&apos;s syndrome|Elongated styloid process syndrome|Styloid-stylohoid syndrome
C566966||Persistent Hyperplastic Primary Vitreous, Autosomal Recessive|Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
C538016||Ectodermal dysplasia alopecia preaxial polydactyly|Absence of body &amp; scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance
C564303||Thai Symphalangism Syndrome
C538015||Ectodermal dysplasia adrenal cyst|Adrenal cyst with ectodermal dysplasia|Ectodermal Dysplasia with Adrenal Cyst
C565630||Diaminopentanuria|Cystine-Lysinuria
165800||OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS|OD
611938||VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2|CPVT2|VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC|VTSIP
C565631||Wolfram-Like Syndrome, Autosomal Dominant
D003047||Coccidioidomycosis|Coccidioides immitis Infection|Coccidioides immitis Infections|Coccidioidomycoses|Infection, Coccidioides immitis|Infections, Coccidioides immitis|San Joaquin Valley Fever|Valley Fever|Valley Fevers
D004379||Duodenal Neoplasms|Cancer, Duodenal|Cancer of Duodenum|Cancer of the Duodenum|Duodenal Cancer|Duodenal Neoplasm|Duodenum Cancer|Neoplasm, Duodenal|Neoplasms, Duodenal
D003048||Coccidiosis|Besnoitiases|Besnoitiasis|Besnoitioses|Besnoitiosis|Coccidioses
D004378||Duodenal Diseases|Disease, Duodenal|Diseases, Duodenal|Duodenal Disease
C564307||Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia|Spondyloenchondrodysplasia with Immune Dysregulation
C564305||Diaphanospondylodysostosis|Vertebral Ossification, Defect in, with Nephrogenic Rests
D003043||Cocarcinogenesis|Cocarcinogeneses
C565637||Deafness, Sensorineural, Autosomal-Mitochondrial Type
D004377||Dumping Syndrome|Dumping Syndromes|Syndrome, Dumping|Syndromes, Dumping
C566969||Ataxia, Spastic, 2, Autosomal Recessive
C565111|125480||Major Affective Disorder 1|BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD1|MANIC-DEPRESSIVE PSYCHOSIS|Manic-Depressive Psychosis, Autosomal|MD1
C565639||Deafness, Neural, with Atypical Atopic Dermatitis
C563713|609469||Nephropathy, Progressive, with Deafness|Alport Focal Segmental Glomerulosclerosis-Like Syndrome|ALPORT/FOCAL SEGMENTAL GLOMERULOSCLEROSIS-LIKE SYNDROME|NEDE
D004382||Duodenitis|Duodenitis, Erosive|Erosive Duodenitis
D004381||Duodenal Ulcer|Curling&apos;s Ulcer|Curlings Ulcer|Curling Ulcer|Duodenal Ulcers|Ulcer, Curling|Ulcer, Duodenal|Ulcers, Duodenal
D004383||Duodenogastric Reflux|Duodenal Reflux|Duodenal Refluxs|Duodeno Gastric Reflux|Duodeno-Gastric Reflux|Reflux, Duodenal|Reflux, Duodenogastric|Reflux, Duodeno-Gastric
C537914|215045||Chondrodysplasia, blomstrand type|Blomstrand lethal osteochondrodysplasia|Blomstrand osteochondrodysplasia|Blomstrand syndrome|BOCD|Lethal congenital dwarfism with accelerated skeletal maturation
D004380||Duodenal Obstruction|Duodenal Obstructions|Obstruction, Duodenal|Obstructions, Duodenal
C535696|154276||Malignant hyperthermia susceptibility type 3|Malignant hyperpyrexia susceptibility type 3|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3|MHS3
D017688||Cholera Morbus|Choleras, Summer|Cholera, Summer|Summer Cholera|Summer Choleras
D017689||Polydactyly|Hyperdactylies|Hyperdactyly|Polydactylia|Polydactylias|Polydactylies|Polydactylism|Polydactylisms
C538133|612933||Lactate dehydrogenase deficiency type A|GLYCOGEN STORAGE DISEASE XI|GSD11|GSD XI|Lactate Dehydrogenase A Deficiency
184252|C535797||Spondylometaphyseal dysplasia, Kozlowski type|SMDK|SMD, Kozlowski Type
D059525||Supraglottitis|Supraglottitides
C565740|604864||Osteoarthritis with Mild Chondrodysplasia
C538024||Chromosome 9p Deletion Syndrome|Chromosome 9, monosomy 9p|Monosomy 9p|Monosomy 9p Syndrome
C538023||Chromosome 9, duplication 9q21|Disomy 9q21|Duplication 9q21
C565600||Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality|Ehlers-Danlos Syndrome, Dysfibronectinemic Type|Ehlers-Danlos Syndrome, Type X
C538022||Chromosome 9 Ring|Ring 9, Chromosome
C565601||Ectrodactyly-Polydactyly
C538021||Chromosome 9 inversion or duplication|Trisomy 9 translocation
C566933||Osteopetrosis, Autosomal Recessive 4|Osteopetrosis, Infantile Malignant 2
C536987|257300||Mosaic variegated aneuploidy syndrome|Chromosomal mosaicism due to mitotic instability|Instability mitotic non disjunction syndrome|Mixoploidy, Familial|Mosaicism, Chromosomal|MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1|MVA1|MVA SYNDROME|Nondisjunction
C538028||Chromosome 9, trisomy|Duplication 9|Trisomy 9
C538027||Chromosome 9, tetrasomy 9p|Chromosome 9, tetrasomy 9p mosaicism|Mosaic tetrasomy 9p|Tetrasomy 9p|Tetrasomy, short arm of chromosome 9
C538026||Chromosome 9, partial trisomy 9p|Duplication 9p partial|Trisomy 9p partial
C538025||Chromosome 9, partial monosomy 9p|9p Partial Monosomy|9p- syndrome, partial|Deletion 9p syndrome, partial|Distal Monosomy 9p|Partial deletion of short arm of chromosome 9
C567463|300756||Alzheimer Disease 16|AD16
C566938||MPGN II with Complement Factor H Deficiency
D003015||Clostridium Infections|Clostridium Infection|Infection, Clostridium|Infections, Clostridium
C565334|605375||Epilepsy, Nocturnal Frontal Lobe, Type 3|ENFL3|EPILEPSY, NOCTURNAL FRONTAL LOBE, 3
C566939||Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency|Membranoproliferative Glomerulonephritis, Type Ii, With Complement Factor H Deficiency
C565608||Dystonia with Ringbinden
D004342||Drug Hypersensitivity|Allergies, Drug|Allergy, Drug|Drug Allergies|Drug Allergy|Drug Hypersensitivities|Hypersensitivities, Drug|Hypersensitivity, Drug
C538020||Chromosome 8, trisomy 8q|Duplication 8q|Trisomy 8q
C566934||Corticosteroid-Binding Globulin, Elevated
C565603||Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
C565604||Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia
C565605||Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum
C563791|609128||Arthrogryposis, Distal, Type 4|Arthrogryposis, Distal, Type Iid|Arthrogryposis With Severe Scoliosis|DA4|DAIID
D005674||Fusobacterium Infections|Fusobacterium Infection|Infection, Fusobacterium|Infections, Fusobacterium|Infection, Sphaerophorus|Infections, Sphaerophorus|Necrobacilloses|Necrobacillosis|Sphaerophorus Infection|Sphaerophorus Infections
C565606||Ectodermal Dysplasia and Neurosensory Deafness
C553654||Congenital Deficiency of Pulmonary Surfactant Protein B|Congenital Surfactant Protein-B Deficiency|Pulmonary Surfactant Protein B, Deficiency of|Surfactant Protein B Deficiency
253600|C535895||Limb-girdle muscular dystrophy type 2A|Calpainopathy|CALPAINOPATHY MYOSITIS, EOSINOPHILIC, INCLUDED|Leyden-Moebius muscular dystrophy|LGMD2|LGMD2A|Limb-girdle muscular dystrophy type 2|Muscular Dystrophy, Limb-Girdle, Type 2|Muscular Dystrophy, Limb-Girdle, Type 2A|Muscular dystrophy, pelvofemoral
114480|D001943||Breast Neoplasms|Breast Cancer|BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED|Breast Carcinoma|Breast Neoplasm|Breast Tumor|Breast Tumors|Cancer, Breast|Cancer of Breast|Cancer of the Breast|Carcinoma, Human Mammary|Carcinomas, Human Mammary|Human Mammary Carcinoma|Human Mammary Carcinomas|Human Mammary Neoplasm|Human Mammary Neoplasms|Malignant Neoplasm of Breast|Malignant Tumor of Breast|Mammary Cancer|Mammary Carcinoma, Human|Mammary Carcinomas, Human|Mammary Neoplasm, Human|Mammary Neoplasms, Human|Neoplasm, Breast|Neoplasm, Human Mammary|Neoplasms, Breast|Neoplasms, Human Mammary|Tumor, Breast|Tumors, Breast
C566976|611276||Glaucoma 1, Open Angle, H|GLC1H
C562704|173100||Isolated Growth Hormone Deficiency, Type II|Growth Hormone Deficiency, Isolated, Autosomal Dominant|IGHD2|IGHD II|Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant
C537421|114030||Cafe au lait spots, multiple|Cafe-au-Lait Spots, Multiple|Multiple cafe-au-lait spots
C538019||Chromosome 8, trisomy 8p|Duplication 8p|Trisomy 8p
C567676|613269||Corneal Dystrophy, Fuchs Endothelial, 5|CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD3 LOCUS|FECD5
C538018||Ectodermal dysplasia mental retardation syndactyly|Ectodermal dysplasia with mental retardation and syndactyly
C538035||Chromosome 15 ring|Ring 15, Chromosome|Ring 15, Chromosome (mosaic pattern)
C565610||Dysmyelination With Jaundice
C538034||Chromosome 14q, terminal duplication|Duplication 14qter|Trisomy 14qter
C538033||Chromosome 14q, terminal deletion|Deletion 14qter|Monosomy 14qter
C538032||Chromosome 14q, proximal duplication|Duplication 14q proximal|Trisomy 14q proximal
C538039||Chromosome 15q, tetrasomy|Tetrasomy 15q
C538038||Chromosome 15q, partial deletion|Deletion 15q1|Deletion 15q25|Monosomy 15q1|Monosomy 15q25
C538037||Chromosome 15, trisomy mosaicism|Trisomy 15 mosaicism|Uniparental disomy of 15
C538036||Partial Duplication 15q Syndrome|Chromosome 15, distal trisomy 15q|Chromosome 15, Trisomy 15q2|Distal Duplication 15q
C566949||Tremor, Hereditary Essential, 3
C565618||DK Phocomelia Syndrome|Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations|Von Voss-Cherstvoy Syndrome
D005687||Galactorrhea|Galactorrheas
C565619||Diverticulosis of Bowel, Hernia, and Retinal Detachment
D003027||Cluster Headache|Atypical Cluster Headache|Atypical Cluster Headaches|Cephalgia, Histamine|Cephalgias, Histamine|Chronic Cluster Headache|Chronic Cluster Headaches|Ciliary Neuralgia|Ciliary Neuralgias|Cluster Headache, Atypical|Cluster Headache, Chronic|Cluster Headache, Episodic|Cluster Headaches|Cluster Headaches, Atypical|Cluster Headaches, Chronic|Cluster Headaches, Episodic|Cluster Headache Syndrome|Cluster Headache Syndromes|Episodic Cluster Headache|Episodic Cluster Headaches|Headache, Atypical Cluster|Headache, Chronic Cluster|Headache, Cluster|Headache, Episodic Cluster|Headaches, Atypical Cluster|Headaches, Chronic Cluster|Headaches, Cluster|Headaches, Episodic Cluster|Headache Syndrome, Cluster|Headache Syndromes, Cluster|Histamine Cephalgia|Histamine Cephalgias|Horton&apos;s Syndrome|Hortons Syndrome|Horton Syndrome|Migraine, Neuralgic|Migraines, Neuralgic|Neuralgia, Ciliary|Neuralgias, Ciliary|Neuralgic Migraine|Neuralgic Migraines|Syndrome, Cluster Headache|Syndrome, Horton|Syndrome, Horton&apos;s|Syndromes, Cluster Headache
C538031||Chromosome 14q, partial deletions|Deletion 14q11|Deletion 14q31|Monosomy 14q11|Monosomy 14q31
C565614||Dwarfism, Proportionate, with Hip Dislocation
C538030||Chromosome 9, trisomy 9q|Duplication 9q|Trisomy 9q
D005683||Gagging|Pharyngeal Reflex|Reflex, Pharyngeal
C565615||Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
C566948||Kallmann Syndrome 2 with Selective Tooth Agenesis
C565617||Dohle Bodies and Leukemia
610446|D054312||Buruli Ulcer|Buruli Ulcer Disease|Buruli Ulcer Diseases|BURULI ULCER, SUSCEPTIBILITY TO|Disease, Buruli Ulcer|Diseases, Buruli Ulcer|Infection, Mycobacterium ulcerans|Infections, Mycobacterium ulcerans|Mycobacterium ulcerans Infection|Mycobacterium ulcerans Infections|MYCOBACTERIUM ULCERANS, SUSCEPTIBILITY TO|Ulcer, Buruli|Ulcer Disease, Buruli|Ulcer Diseases, Buruli
D015009||Yersinia Infections|Infections, Yersinia|Infection, Yersinia|Yersinia Infection
D059545||Paraneoplastic Syndromes, Ocular|Bilateral Diffuse Uveal Melanocytic Proliferation, Paraneoplastic|Cancer-Associated Retinopathies|Cancer Associated Retinopathy|Cancer-Associated Retinopathy|Disease, Ocular Paraneoplastic|Diseases, Ocular Paraneoplastic|Melanocytic Proliferation, Paraneoplastic|Melanocytic Proliferations, Paraneoplastic|Melanoma-Associated Retinopathies|Melanoma Associated Retinopathy|Melanoma-Associated Retinopathy|Ocular Paraneoplastic Disease|Ocular Paraneoplastic Diseases|Ocular Paraneoplastic Syndrome|Ocular Paraneoplastic Syndromes|Paraneoplastic Disease, Ocular|Paraneoplastic Diseases, Ocular|Paraneoplastic Melanocytic Proliferation|Paraneoplastic Melanocytic Proliferations|Paraneoplastic Syndrome, Ocular|Retinopathies, Cancer-Associated|Retinopathies, Melanoma-Associated|Retinopathy, Cancer-Associated|Retinopathy, Melanoma-Associated|Syndrome, Ocular Paraneoplastic|Syndromes, Ocular Paraneoplastic
D031954||Choriocarcinoma, Non-gestational|Choriocarcinoma, Non gestational|Choriocarcinomas, Non-gestational|Non gestational Choriocarcinoma|Non-gestational Choriocarcinoma|Non-gestational Choriocarcinomas
D020165|237300||Carbamoyl-Phosphate Synthase I Deficiency Disease|Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease|Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)|Carbamoyl Phosphate Synthetase I Deficiency|Carbamoylphosphate Synthetase I Deficiency Disease|Carbamoyl Phosphate Synthetase I Deficiency Disease|Carbamoyl-Phosphate Synthetase I Deficiency Disease|Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To|Carbamyl Phosphate Synthetase (CPS) Deficiency|Carbamyl Phosphate Synthetase Deficiency Disease|Carbamyl Phosphate Synthetase I Deficiency Disease|Carbamyl-Phosphate Synthetase I Deficiency Disease|CPS 1 Deficiencies|CPS 1 Deficiency|CPS I Deficiencies|CPS I Deficiency|Deficiencies, CPS 1|Deficiencies, CPS I|Deficiency, CPS 1|Deficiency, CPS I|Deficiency Disease, Carbamoyl Phosphate Synthase|Deficiency Disease, Carbamoyl-Phosphate Synthase|Deficiency Disease, Carbamoyl Phosphate Synthase (Ammonia)|Deficiency Disease, Carbamoylphosphate Synthetase I|Deficiency Disease, Carbamyl Phosphate Synthetase|Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
D015001||Yaws|Frambesia|Frambesias|Frambesia Tropica|Frambesia Tropicas
C538029||Chromosome 9, trisomy 9p
D015004||Yellow Fever|Fevers, Yellow|Fever, Yellow|Yellow Fevers
C566911||Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
D006030|233100||Glycosuria, Renal|GLYCOSURIA, RENAL|GLYS1|Renal Glucosuria|Renal Glycosuria
129490|D053359||Ectodermal Dysplasia 3, Anhidrotic|ECTD10A|ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT|Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant|HED
C567317|612421||Alopecia, Androgenetic, 3|AGA3
614187||HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS|HPPD
C563689|609913||Retinitis Pigmentosa 32|RP32
D006987||Hypesthesia|Hypesthesias|Hypesthesias, Tactile|Hypesthesias, Thermal|Hypesthesia, Tactile|Hypesthesia, Thermal|Hypoesthesia|Hypoesthesias|Impaired Sensation|Impaired Sensations|Numbness|Reduced Sensation|Reduced Sensations|Sensation, Impaired|Sensation, Reduced|Sensations, Impaired|Sensations, Reduced|Tactile Hypesthesia|Tactile Hypesthesias|Thermal Hypesthesia|Thermal Hypesthesias
C566513|602639||Tooth Agenesis, Selective, 2|HYD2|Hypodontia/Oligodontia 2|STHAG2
D006988||Hyphema|Hyphemas
C566918||Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
D006985||Hyperventilation|Hyperventilations
D006986||Hypervitaminosis A
D004320||Dracunculiasis|Disease, Guinea Worm|Diseases, Guinea Worm|Dracunculiases|Dracunculoses|Dracunculosis|Guinea Worm Disease|Guinea Worm Diseases|Guinea Worm Infection|Infection, Guinea Worm|Worm Disease, Guinea
C566912||Muscular Dystrophy, Limb-Girdle, Type 2M|LGMD2M
D006983||Hypertrichosis|Hypertrichoses
D006984||Hypertrophy|Hypertrophies
D046248||Pyloric Stenosis, Hypertrophic|Hypertrophic Pyloric Stenosis|Stenosis, Hypertrophic Pyloric
D006981||Hyperthyroxinemia|Hyperthyroxinemias
D060545||Pudendal Neuralgia|Entrapment, Pudendal Nerve|Entrapments, Pudendal Nerve|Nerve Entrapment, Pudendal|Nerve Entrapments, Pudendal|Neuralgia, Pudendal|Neuralgias, Pudendal|Neuropathies, Pudendal|Neuropathy, Pudendal|Pudendal Canal Entrapment Syndrome|Pudendal Nerve Entrapment|Pudendal Nerve Entrapments|Pudendal Nerve Entrapment Syndrome|Pudendal Neuralgias|Pudendal Neuropathies|Pudendal Neuropathy
613545|D008265||Macrostomia|COMMISSURAL CLEFT, ISOLATED|LATERAL CLEFT, ISOLATED|MACROSTOMIA, ISOLATED|Macrostomias|TRANSVERSE CLEFT, ISOLATED
D005660||Funnel Chest|Chest, Funnel|Chests, Funnel|Excavatum, Pectus|Funnel Chests|Pectus Excavatum
D058226||Plaque, Atherosclerotic|Arterial Fatty Streak|Arterial Fatty Streaks|Atheroma|Atheromas|Atheromatous Plaques|Atherosclerotic Plaque|Atherosclerotic Plaques|Fatty Streak, Arterial|Fatty Streaks, Arterial|Fibroatheroma|Fibroatheromas|Fibroatheromatous Plaque|Fibroatheromatous Plaques|Plaque, Fibroatheromatous|Plaques, Atherosclerotic|Plaques, Fibroatheromatous|Streak, Arterial Fatty|Streaks, Arterial Fatty
C565532|233700||Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I|CGD, Autosomal Recessive Cytochrome B-Positive, Type I|Granulomatous Disease, Chronic, due to NCF1 Deficiency|NCF1, DEFICIENCY OF|Neutrophil Cytosol Factor 1, Deficiency of|P47-Phox, Deficiency of|SOC2, DEFICIENCY OF|Soluble Oxidase Component II, Deficiency of
D058225||Plaque, Amyloid|Amyloid Deposit|Amyloid Deposits|Amyloid Plaque|Amyloid Plaques|Deposit, Amyloid|Deposits, Amyloid|Neuritic Plaque|Neuritic Plaques|Plaque, Neuritic|Plaques, Amyloid|Plaque, Senile|Plaques, Neuritic|Plaques, Senile|Senile Plaque|Senile Plaques
C537525|269500||Sclerosteosis|Cortical hyperostosis with syndactyly|SCLEROSTEOSIS 1|SOST|SOST1
D031941||Hemorrhagic Septicemia, Viral|Haemorrhagic Septicaemia, Viral|Septicaemia, Viral Haemorrhagic|Septicemia, Viral Hemorrhagic|Viral Haemorrhagic Septicaemia|Viral Hemorrhagic Septicemia
C535303|302802||Charcot-Marie-Tooth disease, X-linked recessive, 3|Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3|CMTX3
D016301||Alveolar Bone Loss|Alveolar Bone Atrophies|Alveolar Bone Atrophy|Alveolar Bone Losses|Alveolar Process Atrophies|Alveolar Process Atrophy|Alveolar Resorption|Alveolar Resorptions|Bone Atrophies, Alveolar|Bone Atrophy, Alveolar|Bone Loss, Alveolar|Bone Losses, Periodontal|Bone Loss, Periodontal|Periodontal Bone Loss|Periodontal Bone Losses|Periodontal Resorption|Periodontal Resorptions|Resorption, Alveolar|Resorption, Periodontal|Resorptions, Alveolar
D018981||Congenital Disorders of Glycosylation|Carbohydrate Deficient Glycoprotein Syndrome|Carbohydrate-Deficient Glycoprotein Syndrome|Carbohydrate-Deficient Glycoprotein Syndromes|Glycoprotein Syndrome, Carbohydrate-Deficient|Syndrome, Carbohydrate-Deficient Glycoprotein|Syndromes, Carbohydrate-Deficient Glycoprotein
C564972|255125||Myopathy with Lactic Acidosis, Hereditary|Hereditary Myopathy with Lactic Acidosis|HML|Iron-Sulfur Cluster Deficiency Myopathy|Myoglobinuria due to Abnormal Glycolysis|Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme|Myopathy with Deficiency of ISCU|Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase|Myopathy with Exercise Intolerance, Swedish Type
304100|C564115||Corpus Callosum, Partial Agenesis of, X-Linked
D003003||Clonorchiasis|Clonorchiases
D006998||Hypochondriasis|Hypochondriacal Neuroses|Hypochondriacal Neurosis|Neurosis, Hypochondriacal
D006996||Hypocalcemia|Hypocalcemias
D005667||Furunculosis|Boils|Furuncle|Furuncles|Furunculoses
D006994||Hypoaldosteronism|Acidosis, Renal Tubular Type IV|Hypoaldosteronism, Hyporeninemic|Hyporeninemic Hypoaldosteronism|Renal Tubular Acidosis, Type IV|Type IV Renal Tubular Acidosis
C563681|610333||Aicardi-Goutieres Syndrome 4|AGS4
D006995||Hypobetalipoproteinemias|Familial Hypobetalipoproteinemia|Hypobetalipoproteinemia|Hypo beta Lipoproteinemia|Hypo beta Lipoproteinemias
D004332||Drowning|Drownings
C538398|609273||Nemaline myopathy 6|NEM6
C535579|115150||Cardiofaciocutaneous syndrome|Cardio-Facio-Cutaneous Syndrome|CARDIOFACIOCUTANEOUS SYNDROME 1|CFC1|CFCS|CFC SYNDROME
D005671||Fused Teeth|Double Tooth|Double Tooths|Fused Mandibular Incisor|Fused Mandibular Incisors|Incisor, Fused Mandibular|Incisors, Fused Mandibular|Mandibular Incisor, Fused|Mandibular Incisors, Fused|Teeth, Fused|Tooth, Double|Tooths, Double
602197||CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3|CDR3
C536865|182601||Spastic paraplegia 4, autosomal dominant|Autosomal dominant, spastic paraplegia 4|Familial spastic paraplegia autosomal dominant 2|Familial Spastic Paraplegia, Autosomal Dominant, 2|FSP2|SPG4
C567365|612284||Meckel Syndrome, Type 6|MKS6
C563457|600674||Microtia-Anotia
C536662|264470||Peroxisomal ACYL-COA oxidase deficiency|Pseudoneonatal adrenoleukodystrophy|Straight-chain ACYL-COA oxidase deficiency
224900|D053360||Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive|Anhidridic Ectodermal Dysplasia, Autosomal Recessive|Anhidrotic Ectodermal Dysplasia, Autosomal Recessive|Anhydridic Ectodermal Dysplasia, Autosomal Recessive|Autosomal Recessive Anhidrotic Ectodermal Dysplasia|Autosomal Recessive Anhydrotic Ectodermal Dysplasia|ECTD10B|ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE|ECTODERMAL DYSPLASIA, ANHIDROTIC|Ectodermal Dysplasia, Anhidrotic, Autosomal Recessive|ECTODERMAL DYSPLASIA, HYPOHIDROTIC|Ectodermal Dysplasia, Hypohydrotic, Autosomal Recessive|EDA|HED
D006969||Hypersensitivity, Immediate|Atopic Hypersensitivities|Atopic Hypersensitivity|Hypersensitivities, Atopic|Hypersensitivities, IgE-Mediated|Hypersensitivities, Immediate|Hypersensitivities, Type I|Hypersensitivity, Atopic|Hypersensitivity, IgE-Mediated|Hypersensitivity, Type I|IgE-Mediated Hypersensitivities|IgE Mediated Hypersensitivity|IgE-Mediated Hypersensitivity|Immediate Hypersensitivities|Immediate Hypersensitivity|Type I Hypersensitivities|Type I Hypersensitivity
612562|C567254||Diamond-Blackfan Anemia 7|DBA7
D006967||Hypersensitivity|Allergic Reaction|Allergic Reactions|Allergies|Allergy|Hypersensitivities|Reaction, Allergic|Reactions, Allergic
D006968||Hypersensitivity, Delayed|Delayed Hypersensitivities|Delayed Hypersensitivity|Hypersensitivities, Delayed|Hypersensitivities, Tuberculin-Type|Hypersensitivities, Type IV|Hypersensitivity, Tuberculin Type|Hypersensitivity, Tuberculin-Type|Hypersensitivity, Type IV|Tuberculin-Type Hypersensitivities|Tuberculin Type Hypersensitivity|Tuberculin-Type Hypersensitivity|Type IV Hypersensitivities|Type IV Hypersensitivity
614166||MYOPIA 20, AUTOSOMAL DOMINANT|MYP20
D006965||Hyperplasia|Hyperplasias
D006966||Hyperprolactinemia|Hyperprolactinaemia|Hyperprolactinemias|Hypersecretion Syndrome, Prolactin|Inappropriate Prolactin Secretion|Inappropriate Prolactin Secretion Syndrome|Inappropriate Secretion Prolactin|Prolactin Hypersecretion Syndrome|Prolactin, Inappropriate Secretion|Prolactin Secretion, Inappropriate|Secretion, Inappropriate Prolactin|Secretion Prolactin, Inappropriate|Syndrome, Prolactin Hypersecretion
D006963||Hyperphagia|Overeating
C540309||Abetalipoproteinemia neuropathy
D006964||Hyperpituitarism|Follicle Stimulating Hormone, Inappropriate Secretion|FSH Hypersecretion, Pituitary|Hypersecretion, Pituitary FSH|Hypersecretion, Pituitary LH|Hypersecretion, Pituitary TSH|Inappropriate Follicle Stimulating Hormone Secretion|Inappropriate FSH Secretion Syndrome|Inappropriate LH Secretion Syndrome|Inappropriate Luteinizing Hormone Secretion|Inappropriate Thyroid Stimulating Hormone Secretion|Inappropriate TSH Secretion Syndrome|LH Hypersecretion, Pituitary|Luteinizing Hormone, Inappropriate Secretion|Pituitary FSH Hypersecretion|Pituitary LH Hypersecretion|Pituitary TSH Hypersecretion|Thyroid Stimulating Hormone, Inappropriate Secretion|TSH Hypersecretion, Pituitary
D006961||Hyperparathyroidism
D006962||Hyperparathyroidism, Secondary|Hyperparathyroidisms, Secondary|Secondary Hyperparathyroidism|Secondary Hyperparathyroidisms
D006960||Hyperoxaluria, Primary|Hyperoxalurias, Primary|Oxaloses, Primary|Oxalosis, Primary|Oxaluria, Primary|Oxalurias, Primary|Primary Hyperoxaluria|Primary Hyperoxalurias|Primary Oxaloses|Primary Oxalosis|Primary Oxaluria|Primary Oxalurias
107970|C566254||Arrhythmogenic Right Ventricular Dysplasia, Familial, 1|Arrhythmogenic Right Ventricular Cardiomyopathy 1|ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1;ARVC1 UHL ANOMALY, INCLUDED|ARVD1|CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED
D058246||Prehypertension|Pre Hypertension|Pre-Hypertension|Prehypertensions|Pre-Hypertensions
C567735|613119||Brugada Syndrome 6|BRGDA6
277400|C537359||Methylmalonic acidemia with homocystinuria|Cobalamin-C methylmalonic acidemia and homocystinuria|Methylmalonic acidemia and homocystinemia|Methylmalonic acidemia and homocystinuria cblC type|Methylmalonic Acidemia and Homocystinuria, CblC Type|Methylmalonic Aciduria and Homocystinuria, CblC Type|Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive|VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE
193400|D056725||von Willebrand Disease, Type 1|Type 1 von Willebrand Disease|Type I von Willebrand Disease|von Willebrand Disease, Type I|VWD1|VWD, TYPE 1
C567594|300580||Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked|CFTDX
149400|C538136||Hyperexplexia hereditary|Congenital stiff person syndrome|Exagerrated startle reflex|EXAGGERATED STARTLE REACTION|Familial startle disease|HKPX1|HYPEREKPLEXIA, HEREDITARY 1|Kok disease|STARTLE DISEASE, FAMILIAL|STARTLE REACTION, EXAGGERATED|STHE|Stiff baby syndrome|STIFF-BABY SYNDROME|STIFF-MAN SYNDROME, CONGENITAL|STIFF-PERSON SYNDROME, CONGENITAL
D006978||Hypertension, Renovascular|Goldblatt Hypertension|Goldblatt Syndrome|Hypertension, Goldblatt|Renovascular Hypertension|Syndrome, Goldblatt
D004313||Dourine|Dourines
C566906||Cakut|Congenital Anomalies Of Kidney And Urinary Tract
D006977||Hypertension, Renal|Hypertensions, Renal|Renal Hypertension|Renal Hypertensions
C565788|604352||Febrile Convulsions, Familial, 4|Convulsions, Familial Febrile, 4|FEB4|FEBRILE SEIZURES, FAMILIAL, 4|Seizures, Familial Febrile, 4
D006974||Hypertension, Malignant|Malignant Hypertension
D006975||Hypertension, Portal|Cruveilhier Baumgarten Syndrome|Cruveilhier-Baumgarten Syndrome|Hypertensions, Portal|Portal Hypertension|Portal Hypertensions|Syndrome, Cruveilhier-Baumgarten
D006972||Hypertelorism|Hypertelorisms
D006973||Hypertension|Blood Pressure, High|Blood Pressures, High|High Blood Pressure|High Blood Pressures
C566903||Epilepsy, Familial Mesial Temporal Lobe
D005642||Fuchs&apos; Endothelial Dystrophy|Dystrophy, Fuch&apos;s Endothelial|Dystrophy, Fuchs&apos; Endothelial|Endothelial Dystrophy, Fuch&apos;s|Endothelial Dystrophy, Fuchs&apos;|Fuch Endothelial Dystrophy|Fuchs Atrophy|Fuchs Corneal Dystrophy|Fuchs Dystrophy|Fuchs Endothelial Corneal Dystrophy|Fuch&apos;s Endothelial Dystrophy|Fuchs Endothelial Dystrophy
D006970||Disorders of Excessive Somnolence|DOES (Disorders of Excessive Somnolence)|DOESs (Disorders of Excessive Somnolence)|Excessive Somnolence Disorder|Excessive Somnolence Disorders|Hypersomnia|Hypersomnia, Recurrent|Hypersomnias|Hypersomnias, Recurrent|Hypersomnolence|Hypersomnolence Disorder|Hypersomnolence Disorder, Primary|Hypersomnolence Disorders|Hypersomnolence Disorder, Secondary|Hypersomnolence Disorders, Primary|Hypersomnolence Disorders, Secondary|Primary Hypersomnolence Disorder|Primary Hypersomnolence Disorders|Recurrent Hypersomnia|Recurrent Hypersomnias|Secondary Hypersomnolence Disorder|Secondary Hypersomnolence Disorders|Somnolence Disorder, Excessive|Somnolence Disorders, Excessive
D004310||Double Outlet Right Ventricle|Anomaly, Taussig-Bing|Double-Outlet Right Ventricle|Double Outlet Right Ventricle, Noncommitted VSD|Double Outlet Right Ventricle, Subaortic VSD|Double Outlet Right Ventricle, Subpulmonary VSD|Taussig Bing Anomaly|Taussig-Bing Anomaly
C566904||Preauricular Tag, Isolated, Autosomal Dominant, 1
D006971||Hypersplenism|Anemia, Splenic|Anemias, Splenic|Splenic Anemia|Splenic Anemias
D006980||Hyperthyroidism|Hyperthyroidism, Primary|Primary Hyperthyroidism|Primary Hyperthyroidisms
C565545|231900||Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to|GSSDE
D058252||Necrobiotic Xanthogranuloma|Necrobiotic Xanthogranulomas|Xanthogranuloma, Necrobiotic|Xanthogranulomas, Necrobiotic
C536637|269250||Schneckenbecken dysplasia|Chondrodysplasia, lethal neonatal, with snail-like pelvis
D017622||Periodontal Attachment Loss|Attachment Loss, Periodontal|Loss, Periodontal Attachment
D004409||Dyskinesia, Drug-Induced|Drug-Induced Dyskinesia|Drug-Induced Dyskinesias|Dyskinesia, Drug Induced|Dyskinesia, Medication Induced|Dyskinesia, Medication-Induced|Dyskinesias, Drug-Induced|Dyskinesias, Medication-Induced|Medication Induced Dyskinesia|Medication-Induced Dyskinesia|Medication-Induced Dyskinesias
D004408||Dysgeusia|Altered Taste|Distorted Taste|Dysgeusias|Parageusia|Parageusias|Taste, Altered|Taste, Distorted
D005739||Gas Poisoning|Gas Poisonings|Poisoning, Gas|Poisonings, Gas
D004405||Dysentery, Bacillary|Bacillary Dysentery|boydii Dysenteries, Shigella|boydii Dysentery, Shigella|dysenteriae Dysenteries, Shigella|dysenteriae Dysentery, Shigella|Dysenteries, Shigella|Dysenteries, Shigella boydii|Dysenteries, Shigella dysenteriae|Dysenteries, Shigella flexneri|Dysenteries, Shigella sonnei|Dysentery, Shiga bacillus|Dysentery, Shigella|Dysentery, Shigella boydii|Dysentery, Shigella dysenteriae|Dysentery, Shigella dysenteriae type 1|Dysentery, Shigella flexneri|Dysentery, Shigella sonnei|flexneri Dysenteries, Shigella|flexneri Dysentery, Shigella|Shiga bacillus Dysentery|Shigella boydii Dysenteries|Shigella boydii Dysentery|Shigella dysenteriae Dysenteries|Shigella dysenteriae Dysentery|Shigella Dysenteries|Shigella Dysentery|Shigella flexneri Dysenteries|Shigella flexneri Dysentery|Shigella sonnei Dysenteries|Shigella sonnei Dysentery|Shigellosis|sonnei Dysenteries, Shigella|sonnei Dysentery, Shigella
D005736||Gardner Syndrome|Gardner&apos;s Syndrome|Gardners Syndrome|Gardner&apos;s Syndromes|Gardner Syndromes|Syndrome, Gardner|Syndrome, Gardner&apos;s|Syndromes, Gardner|Syndromes, Gardner&apos;s
D004404||Dysentery, Amebic|Amebiases, Intestinal|Amebiasis, Intestinal|Amebic Colitides|Amebic Colitis|Amebic Dysenteries|Amebic Dysentery|Amoebiases, Intestinal|Amoebiasis, Intestinal|Amoebic Colitides|Amoebic Colitis|Amoebic Dysenteries|Amoebic Dysentery|Colitides, Amebic|Colitides, Amoebic|Colitis, Amebic|Colitis, Amoebic|Dysenteries, Amebic|Dysenteries, Amoebic|Dysentery, Amoebic|Entamoebiases, Intestinal|Entamoebiasis, Intestinal|Intestinal Amebiases|Intestinal Amebiasis|Intestinal Amoebiases|Intestinal Amoebiasis|Intestinal Entamoebiases|Intestinal Entamoebiasis
D004407||Dysgerminoma|Disgerminoma|Disgerminomas|Dysgerminomas
D005738||Gas Gangrene|Gangrene, Gas|Gangrenes, Gas|Gas Gangrenes
D004406||Dysgammaglobulinemia|Dysgammaglobulinemias
255300|D009224||Myotonia Congenita|Batten Turner Congenital Myopathy|Batten-Turner Congenital Myopathy|Becker Disease|Becker Generalized Myotonia|Congenital Myotonia|Disease, Becker|Disease, Thomsen|Disease, Thomsens|Disease, Thomsen&apos;s|Generalized Myotonia|Generalized Myotonia, Becker|Generalized Myotonia of Becker|Generalized Myotonia of Thomsen|Generalized Myotonias|Myopathy, Congenital|Myotonia, Becker Generalized|Myotonia Congenita, Autosomal Dominant|Myotonia Congenita, Autosomal Recessive|Myotonia, Generalized|Myotonia, Generalized, Becker|Myotonia Levior|Myotonias, Generalized|Thomsen Disease|Thomsen Generalized Myotonia|Thomsen&apos;s Disease|Thomsens Disease
D004401||Dysarthria|Dysarthoses|Dysarthosis|Dysarthria, Flaccid|Dysarthria, Guttural|Dysarthria, Mixed|Dysarthrias|Dysarthria, Scanning|Dysarthrias, Flaccid|Dysarthrias, Guttural|Dysarthrias, Mixed|Dysarthria, Spastic|Dysarthrias, Scanning|Dysarthrias, Spastic|Flaccid Dysarthria|Flaccid Dysarthrias|Guttural Dysarthria|Guttural Dysarthrias|Mixed Dysarthria|Mixed Dysarthrias|Scanning Dysarthria|Scanning Dysarthrias|Spastic Dysarthria|Spastic Dysarthrias
C565214|610244||Spastic Paraplegia 33, Autosomal Dominant|SPG33
D004403||Dysentery|Diarrheal Disease, Infectious|Infectious Diarrheal Disease|Infectious Diarrheal Diseases
D005734||Gangrene|Gangrenes
D005733||Gangliosidoses|Ganglioside Storage Disease|Ganglioside Storage Diseases|Ganglioside Storage Disorder|Ganglioside Storage Disorders|Gangliosidosis|Storage Disease, Ganglioside|Storage Diseases, Ganglioside|Storage Disorder, Ganglioside|Storage Disorders, Ganglioside
D060467||Disease Resistance|Disease Resistances|Resistance, Disease|Resistances, Disease
D017719||Diabetic Foot|Diabetic Feet|Feet, Diabetic|Foot, Diabetic|Foot Ulcer, Diabetic
D017714||Community-Acquired Infections|Community-Acquired Infection|Community Acquired Infections|Infection, Community-Acquired|Infections, Community Acquired|Infections, Community-Acquired
C545036|308990||Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis|Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis
C536351|228100||Visceral Steatosis, Congenital|Fatal neonatal hepatic steatosis|Fatty Liver Disease, Congenital|FATTY METAMORPHOSIS OF VISCERA|STEATOSIS OF LIVER|White liver disease
D016532|309900||Mucopolysaccharidosis II|Deficiency, I2S|Deficiency, Iduronate 2-Sulfatase|Deficiency, Iduronate Sulfatase|Deficiency, Sulfoiduronate Sulfatase|Gargoylism, Hunter Syndrome|Hunter&apos;s Syndrome|Hunters Syndrome|Hunter Syndrome|Hunter Syndrome Gargoylism|I2S Deficiency|IDS DEFICIENCY|Iduronate 2 Sulfatase Deficiency|Iduronate 2-Sulfatase Deficiency|Iduronate Sulfatase Deficiency|MPS2|MPS II|Mucopolysaccharidosis 2|Mucopolysaccharidosis Type 2|Mucopolysaccharidosis Type II|MUCOPOLYSACCHARIDOSIS, TYPE II|SIDS DEFICIENCY|Sulfoiduronate Sulfatase Deficiency|Syndrome, Hunter|Syndrome, Hunter&apos;s
D004416||Dysplastic Nevus Syndrome|B K Mole Syndrome|B-K Mole Syndrome|Dysplastic Nevi|Dysplastic Nevus|Familial Atypical Multiple Mole Melanoma|Familial Atypical Multiple Mole-Melanoma|Nevi, Dysplastic|Nevus, Dysplastic|Nevus Syndrome, Dysplastic|Syndrome, B-K Mole|Syndrome, Dysplastic Nevus
D005747||Gastric Fistula|Fistula, Gastric|Fistula, Stomach|Stomach Fistula
D004415||Dyspepsia|Dyspepsias|Indigestion|Indigestions
D004418||Dyspnea, Paroxysmal|Asthma, Cardiac|Dyspnea, Paroxysmal Nocturnal|Dyspneas, Paroxysmal|Paroxysmal Dyspnea|Paroxysmal Dyspneas
D004417||Dyspnea|Breath Shortness|Breath Shortnesses|Dyspneas|Shortness of Breath
D004412||Dysmenorrhea|Dysmenorrheas|Menstrual Pain|Menstrual Pains|Menstruation, Painful|Menstruations, Painful|Painful Menstruation|Painful Menstruations|Pain, Menstrual|Pains, Menstrual
D004411||Dyslexia, Acquired|Acquired Alexia|Acquired Dyslexia|Acquired Global Dyslexia|Acquired Reading Disabilities|Acquired Reading Disability|Acquired Spelling Dyslexia|Acquired Word Blindness|Acquired Word Blindnesses|Alexia, Acquired|Blindness, Acquired Word|Blindnesses, Acquired Word|Disabilities, Acquired Reading|Disability, Acquired Reading|Dyslexia, Acquired Global|Dyslexia, Acquired Spelling|Global Dyslexia, Acquired|Reading Disabilities, Acquired|Reading Disability, Acquired|Spelling Dyslexia, Acquired|Word Blindness, Acquired|Word Blindnesses, Acquired
D004414||Dyspareunia
D004413||Dysostoses|Dysostosis
C567572|600638||Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement|CFEOM3A|FEOM3 LOCUS
277000||MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME|CONGENITAL ABSENCE OF UTERUS AND VAGINA;CAUV UROGENITAL ADYSPLASIA, INCLUDED|MRK ANOMALY|MRKH ANOMALY|MRKH SYNDROME|MULLERIAN APLASIA/DYSGENESIS|UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA|VON MAYER-ROKITANSKY-KUSTER ANOMALY
C536920|275210||Tight skin contracture syndrome, lethal|Fetal hypokinesia sequence due to restrictive dermopathy|Hyperkeratosis-contracture syndrome|Restrictive dermopathy, lethal|TIGHT SKIN CONTRACTURE SYNDROME, LETHAL
D005359|174800||Fibrous Dysplasia, Polyostotic|Albright-Mccune-Sternberg Syndrome|Albright&apos;s Disease|Albright&apos;s Disease of Bone|Albright&apos;s Syndrome|Albright&apos;s Syndrome with Precocious Puberty|Albright-Sternberg Syndrome|Albright Syndrome|ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED|Dysplasia, Polyostotic Fibrous|Dysplasias, Polyostotic Fibrous|Fibrous Dysplasias, Polyostotic|Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty|MAS|McCune Albright Syndrome|McCune-Albright Syndrome|PFD, INCLUDED|POFD, INCLUDED|Polyostotic Fibrous Dysplasia|Polyostotic Fibrous Dysplasias|Syndrome, Albright|Syndrome, Albright&apos;s|Syndrome, McCune-Albright
C537342|147250||Single upper central incisor|Fused incisors|Incisors, Fused|Single central maxillary incisor|SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED|SINGLE UPPER CENTRAL INCISOR|SMMCI|SMMCI Syndrome|SMMCI SYNDROME, INCLUDED|Solitary median maxillary central incisor|Solitary median maxillary central incisor syndrome
D017726||Cytomegalovirus Retinitis|Cytomegaloviral Retinitis|Retinitis, Cytomegaloviral|Retinitis, Cytomegalovirus
D017728||Lymphoma, Large-Cell, Anaplastic|Anaplastic Large Cell Lymphoma|Anaplastic Large-Cell Lymphoma|Anaplastic Large-Cell Lymphomas|CD30+ Anaplastic Large Cell Lymphoma|CD30+ Anaplastic Large-Cell Lymphoma|CD30 Positive Anaplastic Large Cell Lymphoma|CD30-Positive Anaplastic Large-Cell Lymphoma|Ki 1 Lymphoma|Ki-1 Lymphoma|Ki-1 Lymphomas|Large-Cell Lymphoma, Anaplastic|Large-Cell Lymphomas, Anaplastic|Lymphoma, Anaplastic Large-Cell|Lymphoma, Ki-1|Lymphoma, Large-Cell, Ki-1|Lymphomas, Anaplastic Large-Cell|Lymphomas, Ki-1|Systemic Anaplastic Large Cell Lymphoma|Systemic Anaplastic Large-Cell Lymphoma
C536835|266130||Glutathione synthetase deficiency|5-oxoprolinemia|5-oxoprolinuria|Deficiency of Glutathione Synthase|Deficiency of Glutathione Synthetase|GSSD|Pyroglutamic Acidemia|Pyroglutamic aciduria
D017241|540000||MELAS Syndrome|MELAS|MELAS SYNDROME|Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes|Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes|Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode|Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke|Syndrome, MELAS
D005715||Gambling|Gambling, Pathologic|Gambling, Pathological|Gamblings|Gamblings, Pathological|Pathological Gambling|Pathological Gamblings
C537724|309520||Lujan Fryns syndrome|Lujan-Fryns Syndrome|Lujan Syndrome|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies|Mental retardation, X-linked, with marfanoid habitus|X-Linked Intellectual Deficit with Marfanoid Habitus|X-Linked Mental Retardation with Marfanoid Habitus|XLMR with Marfanoid Features
D060487||Alternariosis|Alternarioses|Alternarioses, Cutaneous|Alternarioses, Dermal|Alternarioses, Subcutaneous|Alternariosis, Cutaneous|Alternariosis, Dermal|Alternariosis, Subcutaneous|Cutaneous Alternarioses|Cutaneous Alternariosis|Dermal Alternarioses|Dermal Alternariosis|Subcutaneous Alternarioses|Subcutaneous Alternariosis
D060486||Ophthalmoplegic Migraine|Migraine, Ophthalmoplegic|Migraines, Ophthalmoplegic|Migraine Syndrome, Ophthalmoplegic|Migraine Syndromes, Ophthalmoplegic|Ophthalmoplegic Migraines|Ophthalmoplegic Migraine Syndrome|Ophthalmoplegic Migraine Syndromes|Syndrome, Ophthalmoplegic Migraine|Syndromes, Ophthalmoplegic Migraine
D058165||22q11 Deletion Syndrome|22q11 Deletion Syndromes|Deletion Syndrome, 22q11|Deletion Syndromes, 22q11|Syndrome, 22q11 Deletion|Syndromes, 22q11 Deletion
611891||AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 3|AAA3
609572||PHOTOPAROXYSMAL RESPONSE 2|PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY|PPR2
248390|C535707||Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive|MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE|TCS3|TREACHER COLLINS SYNDROME 3
212500||CATARACT, CONGENITAL OR JUVENILE|CATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED
C567207|612656||Episodic Ataxia, Type 6|EA6
D005729||Ganglioneuroma|Gangliocytoma|Gangliocytomas|Ganglioneuromas
C567466|300749||Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia|MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE|MICPCH|MICPCH Syndrome|MRXSNA
C567648|613310||Exudative Vitreoretinopathy 5|EVR5
300555|C564487||Dent Disease 2
D017703||Retropharyngeal Abscess|Abscesses, Retropharyngeal|Abscess, Retropharyngeal|Retropharyngeal Abscesses
609560||MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)|MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED|MTDPS2
D017700||Embolism, Cholesterol|Atheroembolism|Atheroembolisms|Cholesterol Embolism|Cholesterol Embolisms|Embolisms, Cholesterol
176430||PREMATURE CHROMATID SEPARATION TRAIT|PCS|TOTAL PREMATURE CHROMATID SEPARATION TRAIT
C538514|269160||Familial schizencephaly|SCHIZENCEPHALY
301201||AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2|AIH3, FORMERLY|AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY|ENAMEL HYPOPLASIA, X-LINKED
D010291||Paresis|Brachial Pareses|Brachial Paresis|Crural Pareses|Crural Paresis|Extremity Pareses, Lower|Extremity Pareses, Upper|Extremity Paresis, Lower|Extremity Paresis, Upper|Hemipareses|Hemiparesis|Lower Extremity Pareses|Lower Extremity Paresis|Monopareses|Monoparesis|Muscle Pareses|Muscle Paresis|Muscular Pareses|Muscular Paresis|Pareses|Pareses, Brachial|Pareses, Crural|Pareses, Lower Extremity|Pareses, Muscle|Pareses, Muscular|Pareses, Upper Extremity|Paresis, Brachial|Paresis, Crural|Paresis, Lower Extremity|Paresis, Muscle|Paresis, Muscular|Paresis, Upper Extremity|Upper Extremity Pareses|Upper Extremity Paresis
122600||SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT|COSTOVERTEBRAL SEGMENTATION ANOMALIES POLYDYSSPONDYLY, INCLUDED|SCDO5|SPONDYLOCOSTAL DYSPLASIA, DOMINANT FORM|SPONDYLOTHORACIC DYSOSTOSIS, AUTOSOMAL DOMINANT
C537236|268900||Sarcosinemia|Hypersarcosinemia|SARCOS|Sarcosin dehydrogenase complex, deficiency of|SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY|Sarcosine Dehydrogenase Complex, Deficiency Of|SARD Deficiency|SARDHD|SARDH Deficiency
D035583||Rare Diseases|Disease, Orphan|Disease, Rare|Diseases, Orphan|Diseases, Rare|Orphan Disease|Orphan Diseases|Rare Disease
D058186||Acute Kidney Injury|Acute Kidney Failure|Acute Kidney Failures|Acute Kidney Injuries|Acute Kidney Insufficiencies|Acute Kidney Insufficiency|Acute Renal Failure|Acute Renal Failures|Acute Renal Injuries|Acute Renal Injury|Acute Renal Insufficiencies|Acute Renal Insufficiency|Kidney Failure, Acute|Kidney Failures, Acute|Kidney Injuries, Acute|Kidney Injury, Acute|Kidney Insufficiencies, Acute|Kidney Insufficiency, Acute|Renal Failure, Acute|Renal Failures, Acute|Renal Injuries, Acute|Renal Injury, Acute|Renal Insufficiencies, Acute|Renal Insufficiency, Acute
D010284||Paratyphoid Fever|Fever, Paratyphoid|Fevers, Paratyphoid|Paratyphoid Fevers
D010283||Paratuberculosis|Disease, Johne|Disease, Johne&apos;s|Johne Disease|Johne&apos;s Disease|Johnes Disease|Paratuberculoses
D019294|213700||Xanthomatosis, Cerebrotendinous|Bogaert-Scherer-Epstein Disease, Van|Cerebral Cholesterinoses|Cerebral Cholesterinosis|Cerebrotendinous Xanthomatoses|Cerebrotendinous Xanthomatosis|CTX|Disease, Van Bogaert-Scherer-Epstein|Van Bogaert Scherer Epstein Disease|Van Bogaert-Scherer-Epstein Disease|Xanthomatoses, Cerebrotendinous
C565790|604326||Spinocerebellar Ataxia 12|SCA12
D005706||Gallbladder Neoplasms|Bladder Cancer, Gall|Bladder Cancers, Gall|Cancer, Gallbladder|Cancer, Gall Bladder|Cancer of Gallbladder|Cancer of the Gallbladder|Cancers, Gallbladder|Cancers, Gall Bladder|Gallbladder Cancer|Gall Bladder Cancer|Gallbladder Cancers|Gall Bladder Cancers|Gallbladder Neoplasm|Neoplasm, Gallbladder|Neoplasms, Gallbladder
264600|C535830||Pseudovaginal Perineoscrotal Hypospadias|5-Alpha Reductase Deficiency|Familial Incomplete Male Pseudohermaphroditism, Type 2|Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency|PPSH|Steroid 5-Alpha-Reductase Deficiency
D005705||Gallbladder Diseases|Bladder Disease, Gall|Bladder Diseases, Gall|Disease, Gallbladder|Disease, Gall Bladder|Diseases, Gallbladder|Diseases, Gall Bladder|Gallbladder Disease|Gall Bladder Disease|Gall Bladder Diseases
118200|D002607||Charcot-Marie-Tooth Disease|Areflexic Dystasia, Hereditary|Areflexic Dystasias, Hereditary|Atrophies, Peroneal Muscular|Atrophy, Muscular, Peroneal|Atrophy, Peroneal Muscular|Charcot Marie Disease|Charcot-Marie Disease|Charcot Marie Tooth Disease|Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A|Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B|Charcot-Marie-Tooth Disease, Demyelinating, Type 1A|Charcot-Marie-Tooth Disease, Demyelinating, Type 1B|Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy|Charcot Marie Tooth Disease, Type 1A|Charcot-Marie-Tooth Disease, Type 1A|Charcot Marie Tooth Disease, Type 1B|Charcot-Marie-Tooth Disease, Type 1B|Charcot Marie Tooth Disease, Type I|Charcot-Marie-Tooth Disease, Type I|Charcot Marie Tooth Disease, Type IA|Charcot-Marie-Tooth Disease, Type IA|Charcot Marie Tooth Disease, Type IB|Charcot-Marie-Tooth Disease, Type IB|Charcot Marie Tooth Disease, Type II|Charcot-Marie-Tooth Disease, Type II|Charcot Marie Tooth Hereditary Neuropathy|Charcot-Marie-Tooth Hereditary Neuropathy|Charcot Marie Tooth Neuropathy, Type 1A|Charcot-Marie-Tooth Neuropathy, Type 1A|Charcot Marie Tooth Neuropathy, Type 1B|Charcot-Marie-Tooth Neuropathy, Type 1B|Charcot Marie Tooth Syndrome|Charcot-Marie-Tooth Syndrome|CMT1A|CMT1B|Dystasia, Hereditary Areflexic|Dystasias, Hereditary Areflexic|Hereditary Areflexic Dystasia|Hereditary Areflexic Dystasias|Hereditary Motor and Sensory Neuropathy 1A|Hereditary Motor and Sensory Neuropathy 1B|HEREDITARY MOTOR AND SENSORY NEUROPATHY I|Hereditary Motor and Sensory Neuropathy IA|Hereditary Motor And Sensory Neuropathy IB|Hereditary Motor, and Sensory Neuropathy Type I|Hereditary Motor and Sensory Neuropathy Type II|Hereditary Motor and Sensory-Neuropathy Type II|Hereditary Neuropathy, Charcot-Marie-Tooth|Hereditary Type I Motor and Sensory Neuropathy|HMN Distal Type I|HMSN1|HMSN1A|HMSN 1A|HMSN1B|HMSN 1B|HMSN I|HMSN IA|HMSN IB|HMSN II|HMSN Type I|HMSN Type II|Muscular Atrophies, Peroneal|Muscular Atrophy, Peroneal|Neuropathy, Type I Hereditary Motor and Sensory|Neuropathy, Type II Hereditary Motor and Sensory|Peroneal Muscular Atrophies|Peroneal Muscular Atrophy|Roussy Levy Disease|Roussy-Levy Disease|Roussy Levy Hereditary Areflexic Dystasia|Roussy-Levy Hereditary Areflexic Dystasia|Roussy Levy Syndrome|Roussy-Levy Syndrome|Syndrome, Charcot-Marie-Tooth|Syndrome, Roussy-Levy
211180|C537081||Bowen-Conradi syndrome|Bowen-Conradi Hutterite syndrome|BOWEN HUTTERITE SYNDROME, FORMERLY|BWCNS
C537199|608687||Spinocerebellar ataxia 20|CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB|SCA20|Spinocerebellar ataxia type 20|Spinocerebellar Ataxia With Dysphonia|Spinocerebellar Ataxia With Spasmodic Cough
D057770|228600||Hyalinosis, Systemic|Fibromatosis Hyalinica Multiplex Juvenilis|Fibromatosis Juvenile Hyaline|Fibromatosis, Juvenile Hyaline|Fibromatosis Syndrome, Hyaline|Fibromatosis Syndromes, Hyaline|HFS|Hyaline Fibromatosis Juvenile|Hyaline Fibromatosis, Juvenile|Hyaline Fibromatosis Syndrome|Hyaline Fibromatosis Syndromes|Hyalinoses, Infantile Systemic|Hyalinoses, Juvenile|Hyalinoses, Systemic|Hyalinoses, Systemic Juvenile|Hyalinosis, Infantile Systemic|Hyalinosis, Juvenile|HYALINOSIS, SYSTEMIC|Hyalinosis, Systemic Juvenile|Infantile Systemic Hyalinoses|Infantile Systemic Hyalinosis|Juvenile Hyaline Fibromatoses|Juvenile Hyaline Fibromatosis|Juvenile Hyalinoses|Juvenile Hyalinoses, Systemic|Juvenile Hyalinosis|Juvenile Hyalinosis, Systemic|Murray Syndrome|Puretic Syndrome|Puretic Syndromes|Syndrome, Hyaline Fibromatosis|Syndrome, Murray|Syndrome, Puretic|Syndromes, Hyaline Fibromatosis|Syndromes, Puretic|Systemic Hyalinoses|Systemic Hyalinoses, Infantile|Systemic Hyalinosis|Systemic Hyalinosis, Infantile|Systemic Juvenile Hyalinoses|Systemic Juvenile Hyalinosis
D010292||Paresthesia|Distal Paresthesia|Distal Paresthesias|Dysesthesia|Dysesthesias|Formication|Formications|Painful Paresthesia|Painful Paresthesias|Paresthesia, Distal|Paresthesia, Painful|Paresthesias|Paresthesias, Distal|Paresthesias, Painful
303800||COLORBLINDNESS, PARTIAL, DEUTAN SERIES|CBD|DCB|DEUTAN COLORBLINDNESS|DEUTERANOPIA|GREEN COLORBLINDNESS DEUTERANOMALY, INCLUDED
C567707|613206||Spastic Paraplegia 44, Autosomal Recessive|SPG44
C536962|601005||Timothy syndrome|Long Qt Syndrome 8|Long QT syndrome with syndactyly|LQT8|TS
C567530|612357||Major Affective Disorder 8|BIPOLAR AFFECTIVE DISORDER|MAFD8
D010267||Parapsoriasis|Dermatoses, Digitate|Dermatosis, Digitate|Digitate Dermatoses|Digitate Dermatosis|Erythroderma, Maculopapular|Erythrodermas, Maculopapular|Maculopapular Erythroderma|Maculopapular Erythrodermas|Parakeratosis Variegata|Parapsoriases|Parapsoriasis en Plaque|Parapsoriasis en Plaques
C564696|606574||Oculocutaneous Albinism, Type IV|Albinism, Oculocutaneous, Type IV|OCA4|OCULOCUTANEOUS ALBINISM, TYPE IV
105250|C562643||Amyloidosis IX|Amyloidosis, Familial Cutaneous Lichen|AMYLOIDOSIS IX|AMYLOIDOSIS, PRIMARY CUTANEOUS, 1|AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1|Lichen Amyloidosis, Familial|PCA|PCA1|PLCA1
C564653|606852||Parkinson Disease 10|AAOPD|PARK10|Parkinson Disease, Age At Onset Of
D010260||Paranoid Personality Disorder|Disorder, Paranoid Personality|Disorders, Paranoid Personality|Paranoid Personalities|Paranoid Personality|Paranoid Personality Disorders|Personalities, Paranoid|Personality Disorder, Paranoid|Personality Disorders, Paranoid|Personality, Paranoid
D010262||Paraphilias|Deviation, Sex|Deviations, Sex|Paraphilia|Sex Deviation|Sex Deviations
D011595||Psychomotor Agitation|Agitation, Psychomotor|Akathisia|Excitement, Psychomotor|Hyperactivity, Psychomotor|Psychomotor Excitement|Psychomotor Hyperactivity|Psychomotor Restlessness|Restlessness|Restlessness, Psychomotor
D010264||Paraplegia|Ataxic Paraplegia|Ataxic Paraplegias|Cerebral Paraplegia|Cerebral Paraplegias|Flaccid Paraplegia|Flaccid Paraplegias|Paralysis, Legs|Paralysis, Lower Extremities|Paralysis, Lower Limbs|Paraplegia, Ataxic|Paraplegia, Cerebral|Paraplegia, Flaccid|Paraplegias|Paraplegias, Ataxic|Paraplegias, Cerebral|Paraplegias, Flaccid|Paraplegia, Spastic|Paraplegia, Spinal|Paraplegias, Spastic|Paraplegias, Spinal|Spastic Paraplegia|Spastic Paraplegias|Spinal Paraplegia|Spinal Paraplegias
C536980|227050||Transient erythroblastopenia of childhood|Erythroblastopenia, transient|Familial transient erythroblastopenia of childhood|TEC
D010263||Paraphimosis|Paraphimoses
D011596||Psychomotor Disorders|Developmental Psychomotor Disorder|Developmental Psychomotor Disorders|Impairment, Psychomotor|Impairments, Psychomotor|Psychomotor Disorder, Developmental|Psychomotor Disorders, Developmental|Psychomotor Impairment|Psychomotor Impairments
D010265||Paraproteinemias|Cell Dyscrasia, Plasma|Cell Dyscrasias, Plasma|Dyscrasia, Plasma Cell|Dyscrasias, Plasma Cell|Gammapathies, Monoclonal|Gammapathy, Monoclonal|Gammopathies, Monoclonal|Gammopathy, Monoclonal|Monoclonal Gammapathies|Monoclonal Gammapathy|Monoclonal Gammopathies|Monoclonal Gammopathy|Paraimmunoglobulinemia|Paraimmunoglobulinemias|Paraproteinemia|Plasma Cell Dyscrasia|Plasma Cell Dyscrasias
C535506|108500||Episodic ataxia with nystagmus|Acetazolamide-responsive episodic ataxia syndrome|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia|APCA|Ataxia, Episodic, With Nystagmus|Ataxia, familial, paroxysmal|Ataxia, Familial Paroxysmal|CAPA|Cerebellar ataxia, paroxysmal, Acetazolamide-responsive|Cerebellopathy, hereditary paroxysmal|EA2|Episodic Ataxia, Nystagmus-Associated|Episodic ataxia type 2|Episodic Ataxia, Type 2|Nystagmus-associated episodic ataxia
D055948||Sarcopenia|Sarcopenias
D055949||Vasa Previa|Praevias, Vasa|Praevia, Vasa|Previas, Vasa|Previa, Vasa|Vasa Praevia|Vasa Praevias|Vasa Previas
242500|C538424||Harlequin type ichthyosis|ARCI4B|&apos;HARLEQUIN FETUS&apos;|HARLEQUIN ICHTHYOSIS|HI|Ichthyosis congenita, Harlequin fetus type|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B|Ichthyosis, Harlequin type
C565238|606324||Parkinson Disease 7, Autosomal Recessive Early-Onset|PARK7
116800|C535342||Cataract, zonular|CAM|CATARACT 5, MULTIPLE TYPES|Cataract, lamellar|Cataract, Marner Type|CTM|CTRCT5|Perinuclear cataract
D043963||Diverticulosis, Colonic|Colonic Diverticulosis
C537124|125250||Optic atrophy 1 and deafness|DOA+|DOMINANT OPTIC ATROPHY PLUS SYNDROME|OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
D010279||Parathyroid Diseases|Disease, Parathyroid|Diseases, Parathyroid|Disorder, Parathyroid|Disorders, Parathyroid|Parathyroid Disease|Parathyroid Disorder|Parathyroid Disorders
D009298||Nasal Polyps|Nasal Polyp|Polyp, Nasal|Polyps, Nasal
C563928|608445||Speech-Sound Disorder|SSD
C563874|608695||Glaucoma 1, Open Angle, J|Glaucoma, Primary Open Angle, Juvenile-Onset, 2|GLC1J|JOAG2
D010273||Parasitic Diseases, Animal|Animal Parasitic Disease|Animal Parasitic Diseases|Disease, Animal Parasitic|Diseases, Animal Parasitic|Parasitic Disease, Animal
D010272||Parasitic Diseases|Disease, Parasitic|Diseases, Parasitic|Parasitic Disease
C566395|603266||Diabetes Mellitus, Insulin-Dependent, 17|IDDM17|Insulin-Dependent Diabetes Mellitus 17
C565211|610248||Deafness, Autosomal Recessive 65|DFNB65
C535890||Levator syndrome|Levator ani spasm syndrome|Levator ani syndrome
D055958||Piriformis Muscle Syndrome|Muscle Syndrome, Piriformis|Muscle Syndromes, Piriformis|Piriformis Muscle Syndromes|Piriformis syndrome|Piriformis syndromes|syndrome, Piriformis|Syndrome, Piriformis Muscle|syndromes, Piriformis|Syndromes, Piriformis Muscle
C565753|604757||Craniosynostosis, Type 2|CRANIOSYNOSTOSIS 2|Craniosynostosis, Boston-Type|CRS2|CSB
C535892||Lichen planus follicularis|Follicular lichen planus tumidus|Lichen planus follicularis tumidus|Lichen planus tumidus follicularis
D055959||Intervertebral Disc Degeneration|Degeneration, Disc|Degeneration, Disk|Degeneration, Intervertebral Disc|Degeneration, Intervertebral Disk|Degenerations, Disc|Degenerations, Disk|Degenerations, Intervertebral Disc|Degenerations, Intervertebral Disk|Degenerative Intervertebral Disc|Degenerative Intervertebral Discs|Degenerative Intervertebral Disk|Degenerative Intervertebral Disks|Degradation, Disc|Degradation, Disk|Degradations, Disc|Degradations, Disk|Disc Degeneration|Disc Degeneration, Intervertebral|Disc Degenerations|Disc Degenerations, Intervertebral|Disc, Degenerative Intervertebral|Disc Degradation|Disc Degradations|Discs, Degenerative Intervertebral|Disk Degeneration|Disk Degeneration, Intervertebral|Disk Degenerations|Disk Degenerations, Intervertebral|Disk, Degenerative Intervertebral|Disk Degradation|Disk Degradations|Disks, Degenerative Intervertebral|Intervertebral Disc Degenerations|Intervertebral Disc, Degenerative|Intervertebral Discs, Degenerative|Intervertebral Disk Degeneration|Intervertebral Disk Degenerations|Intervertebral Disk, Degenerative|Intervertebral Disks, Degenerative
C535891||Familial popliteal pterygium syndrome|Lewis Pashayan syndrome
C535894||Lichtenstein syndrome
C567421|612096||Otosclerosis 8|OTSC8
607080|C567773||46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
D010246||Paralysis, Obstetric|Obstetrical Paralyses|Obstetrical Paralysis|Obstetric Paralyses|Obstetric Paralysis|Paralyses, Obstetric|Paralyses, Obstetrical|Paralysis, Obstetrical
D010245||Paralyses, Familial Periodic|Familial Periodic Paralyses|Familial Periodic Paralysis|Normokalemic Periodic Paralyses|Normokalemic Periodic Paralysis|Paralyses, Normokalemic Periodic|Paralysis, Familial Periodic|Paralysis, Normokalemic Periodic|Periodic Paralyses, Familial|Periodic Paralyses, Normokalemic|Periodic Paralysis, Familial|Periodic Paralysis, Normokalemic
208000|C537440||Arterial calcification of infancy|Arterial Calcification, Generalized, Of Infancy|ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1|Arterial Calcification, Idiopathic Infantile|Arteriopathy, Occlusive Infantile|ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED|GACI|GACI1|Generalized arterial calcification in infancy|Idiopathic infantile arterial calcification|IIAC|Occlusive infantile arteriopathy
D009265||Nairobi Sheep Disease|Disease, Nairobi Sheep|Sheep Disease, Nairobi
D009264||Nails, Malformed|Abnormalities, Nail|Abnormality, Nail|Abnormal Nail|Abnormal Nails|Malformed Nail|Malformed Nails|Nail, Abnormal|Nail Abnormalities|Nail Abnormality|Nail, Malformed|Nails, Abnormal|Pachyonychia
D009263||Nails, Ingrown|Ingrown Nail|Ingrown Nails|Nail, Ingrown
D010249||Parametritis|Cellulitides, Pelvic|Cellulitis, Pelvic|Parametritides|Pelvic Cellulitides|Pelvic Cellulitis
C536345|192950||Vertical talus, congenital|CVT|Pes valgus, congenital convex|Rocker-bottom foot
C567758|613093||Cone Dystrophy 4|ACHM5, INCLUDED|ACHROMATOPSIA 5, INCLUDED|COD4
D055954||Corneal Endothelial Cell Loss|Corneal Endothelial Cell Damage|Endothelial Cell Loss, Corneal
D009260||Nail Diseases|Disease, Nail|Diseases, Nail|Nail Disease
C535885||Jones Hersh Yusk syndrome|Aplasia cutis cleft palate epidermolysis|Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|Ptosis, ectropion, thin skin, beaked nose
D055955||Susac Syndrome|Retinocochleocerebral Vasculopathies|Retinocochleocerebral Vasculopathy|Susac&apos;s Syndrome|Susacs Syndrome|Syndrome, Susac|Syndrome, Susac&apos;s|Vasculopathies, Retinocochleocerebral|Vasculopathy, Retinocochleocerebral
C535884||Joint laxity, familial|Articular hypermobility syndrome|Familial joint instability syndrome|Joint instability syndrome
D055956||Diffuse Neurofibrillary Tangles with Calcification|Disease, Kosaka-Shibayama|Kosaka Shibayama Disease|Kosaka-Shibayama Disease
C535886||Jones syndrome|Fibromatosis gingival progressive deafness|Fibromatosis, Gingival, With Progressive Deafness|Gingival fibromatosis with progressive deafness|Gingival fibromatosis with sensorineural hearing loss
C535889||Leukonychia totalis|Hereditary white nails|Porcelain nails
D010241||Parakeratosis|Parakeratoses
C535888||Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia
D055952||Cogan Syndrome|Cogan&apos;s Syndrome|Cogans Syndrome|Syndrome, Cogan|Syndrome, Cogans|Syndrome, Cogan&apos;s
D055953||Microscopic Polyangiitis|Microscopic Polyangiitides|Polyangiitides, Microscopic|Polyangiitis, Microscopic
D010243||Paralysis|Palsies|Palsy|Paralyses|Paralysis, Todd|Paralysis, Todd&apos;s|Plegia|Plegias|Todd Paralysis|Todd&apos;s Paralysis|Todds Paralysis
193007|C535431||Benign paroxysmal positional vertigo|BPPV|BRV|BRV1, INCLUDED|BRV2|Familial benign recurrent vertigo|Familial vestibulopathy|Vertigo, Benign Paroxysmal Positional|VERTIGO, BENIGN RECURRENT|VERTIGO, BENIGN RECURRENT, 2|Vestibulopathy, Familial|VESTIBULOPATHY, FAMILIAL VERTIGO, BENIGN RECURRENT, 1, INCLUDED
C565778|604393||Leber Congenital Amaurosis 4|Cone-Rod Dystrophy, Aipl1-Related|CONE-ROD DYSTROPHY, AIPL1-RELATED, INCLUDED|LCA4|Retinitis Pigmentosa, Juvenile, Aipl1-Related|RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED, INCLUDED
D010257||Paraneoplastic Syndromes|Paraneoplastic Syndrome|Syndrome, Paraneoplastic|Syndromes, Paraneoplastic
D010259||Paranoid Disorders|Disorder, Paranoid|Disorders, Paranoid|Paranoia|Paranoias|Paranoid Disorder|Paranoid Psychoses|Psychoses, Paranoid
D010253||Respirovirus Infections|Infections, Respirovirus
C537985|607678||Charcot-Marie-Tooth disease, Type 1D|Charcot-Marie-Tooth disease, demyelinating, Type 1D|Charcot-Marie-Tooth Neuropathy, Type 1D|CMT1D|Hereditary motor and sensory neuropathy 1D|HMSN1D|HMSN 1D|HMSNID|HMSN ID
D055963||Asthma, Aspirin-Induced|Aspirin Induced Asthma|Aspirin-Induced Asthma|Aspirin Induced Asthmas|Aspirin-Induced Asthmas|Aspirin Induced Asthma Syndrome|Aspirin-Induced Asthma Syndrome|Aspirin-Induced Asthma Syndromes|Asthma, Aspirin Induced|Asthma, NSAID induced|Asthma, NSAID-induced|Asthmas, Aspirin Induced|Asthmas, Aspirin-Induced|Asthmas, NSAID-induced|Asthma Syndrome, Aspirin-Induced|Asthma Syndromes, Aspirin-Induced|Induced Asthma, Aspirin|Induced Asthmas, Aspirin|NSAID-induced Asthma|NSAID-induced Asthmas|Syndrome, Aspirin-Induced Asthma|Syndromes, Aspirin-Induced Asthma
D010255||Paranasal Sinus Neoplasms|Cancer of Paranasal Sinus|Cancer, Paranasal Sinus|Cancers, Paranasal Sinus|Neoplasm, Paranasal Sinus|Neoplasms, Paranasal Sinus|Paranasal Sinus Cancer|Paranasal Sinus Cancers|Paranasal Sinus Neoplasm
D055964||Alien Hand Syndrome|Alien Hand Syndromes|Anarchic Hand Syndrome|Anarchic Hand Syndromes|Hand Syndrome, Alien|Hand Syndrome, Anarchic|Hand Syndromes, Alien|Hand Syndromes, Anarchic|Syndrome, Alien Hand|Syndrome, Anarchic Hand|Syndromes, Alien Hand|Syndromes, Anarchic Hand
C567748|613107||Neutropenia, Severe Congenital, Autosomal Dominant 2|NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT|SCN2|Severe Congenital Neutropenia-2
D010254||Paranasal Sinus Diseases|Disease, Paranasal Sinus|Diseases, Paranasal Sinus|Paranasal Sinus Disease|Sinus Disease, Paranasal|Sinus Diseases, Paranasal
C566963|611363||Atrial Septal Defect 4|ASD4
D009236||Myxosarcoma|Myxosarcomas
D012887||Skull Fractures|Fracture, Non-Depressed Skull|Fracture, Skull|Fractures, Linear Skull|Fractures, Non-Depressed Skull|Fractures, Skull|Linear Skull Fracture|Linear Skull Fractures|Non Depressed Skull Fracture|Non-Depressed Skull Fracture|Non-Depressed Skull Fractures|Skull Fracture|Skull Fracture, Linear|Skull Fracture, Non Depressed|Skull Fracture, Non-Depressed|Skull Fractures, Linear|Skull Fractures, Non-Depressed
C566146|117210||Spinocerebellar Ataxia 31|SCA31|Spinocerebellar Ataxia, 16q22-Linked
D012888||Skull Neoplasms|Neoplasm, Skull|Neoplasms, Skull|Skull Neoplasm
D011557||Pseudorabies|Aujeszky Disease|Aujeszky&apos;s Disease|Aujeszkys Disease
D011559||Pseudotumor Cerebri|Benign Intracranial Hypertension|Hypertension, Benign Intracranial|Hypertension, Idiopathic Intracranial|Idiopathic Intracranial Hypertension|Intracranial Hypertension, Benign|Intracranial Hypertension, Idiopathic
C566310|102900||Adenosine Triphosphate, Elevated, Of Erythrocytes|Pyruvate Kinase Hyperactivity
607842|C564321||Aural Atresia, Congenital|Caa
C566458|609649||Trichilemmal Cyst 1|PILAR CYST|Tricholemmal Cyst|TRICY1
C567787|605714||Cerebral Amyloid Angiopathy, App-Related|Amyloidosis, Cerebroarterial, App-Related|AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant|HCHWAD
D010229||Paracoccidioidomycosis|Blastomycosis, South American|Paracoccidioidomycoses|South American Blastomycosis
C567512|611863||Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
D012883||Skin Ulcer|Skin Ulcers|Ulcer, Skin|Ulcers, Skin
D011553||Pseudomyxoma Peritonei|Ascites, Gelatinous|Gelatinous Ascites|Pseudomyxoma Peritonei Syndrome|Pseudomyxoma Peritonei Syndromes|Syndrome of Pseudomyxoma Peritonei
C566999|611154||Alzheimer Disease 14|AD14
D011552||Pseudomonas Infections|Infection, Pseudomonas|Infections, Pseudomonas|Pseudomonas Infection
109660||BETA-AMINO ACIDS, RENAL TRANSPORT OF|AABT|TAURINE RENAL REABSORPTION
252900|D009084||Mucopolysaccharidosis III|Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies|Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency|Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency|Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase|Deficiencies, N-Acetyl-alpha-D-Glucosaminidase|Deficiencies, N-Acetylglucosamine-6-Sulfatase|Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase|Deficiencies, NAGLU|Deficiencies, Sulfamidase|Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase|Deficiency, N-Acetyl-alpha-D-Glucosaminidase|Deficiency, N-Acetylglucosamine-6-Sulfatase|Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase|Deficiency, NAGLU|Deficiency, Sulfamidase|Heparan Sulfate Sulfatase Deficiency|IIIBs, Mucopolysaccharidosis Type|MPS3A|MPS 3 A|MPS3B|MPS 3 B|MPS3C|MPS 3 C|MPS3D|MPS 3 D|MPS IIIA|MPS III A|MPS IIIB|MPS III B|MPS IIIC|MPS III C|MPS IIID|MPS III D|MPS IIIDs|Mucopolysaccharidosis 3|Mucopolysaccharidosis IIIs|Mucopolysaccharidosis Type 3 A|Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome|Mucopolysaccharidosis Type 3 B|Mucopolysaccharidosis Type 3 C|Mucopolysaccharidosis Type 3 D|Mucopolysaccharidosis Type IIIA|MUCOPOLYSACCHARIDOSIS, TYPE IIIA|Mucopolysaccharidosis Type IIIAs|Mucopolysaccharidosis Type IIIB|MUCOPOLYSACCHARIDOSIS, TYPE IIIB|Mucopolysaccharidosis Type IIIBs|Mucopolysaccharidosis Type IIIC|MUCOPOLYSACCHARIDOSIS, TYPE IIIC|Mucopolysaccharidosis Type IIICs|Mucopolysaccharidosis Type IIID|MUCOPOLYSACCHARIDOSIS, TYPE IIID|Mucopolysaccharidosis Type IIIDs|N-Acetyl-alpha-D-Glucosaminidase Deficiencies|N Acetyl alpha D Glucosaminidase Deficiency|N-Acetyl-alpha-D-Glucosaminidase Deficiency|N-Acetylglucosamine-6-Sulfatase Deficiencies|N Acetylglucosamine 6 Sulfatase Deficiency|N-Acetylglucosamine-6-Sulfatase Deficiency|N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies|N Acetylglucosamine 6 Sulfate Sulfatase Deficiency|N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency|N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide|N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide|NAGLU Deficiencies|NAGLU Deficiency|Oligophrenia, Polydystrophic|Oligophrenias, Polydystrophic|Polydystrophic Oligophrenia|Polydystrophic Oligophrenias|Sanfilippo&apos;s Syndrome|Sanfilippos Syndrome|San Filippo&apos;s Syndrome|San Filippos Syndrome|Sanfilippo Syndrome|San Filippo Syndrome|Sanfilippo Syndrome A|Sanfilippo Syndrome B|Sanfilippo Syndrome C|Sanfilippo Syndrome D|Sanfilippo Syndromes|Sulfamidase Deficiencies|Sulfamidase Deficiency|Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate|Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate|Syndrome, Sanfilippo|Syndrome, Sanfilippo&apos;s|Syndrome, San Filippo&apos;s|Syndromes, Sanfilippo
D012899||Smallpox|Alastrim|Minors, Variola|Minor, Variola|Variola|Variola Minor|Variola Minors|Variolas
D010237||Paragonimiasis|Infection, Paragonimus westermani|Infections, Paragonimus westermani|Paragonimiases|Paragonimus westermani Infection|Paragonimus westermani Infections|westermani Infection, Paragonimus|westermani Infections, Paragonimus
D012897||Slow Virus Diseases|Disease, Slow Virus|Diseases, Slow Virus|Slow Virus Disease|Virus Disease, Slow|Virus Diseases, Slow
D010236||Paraganglioma, Extra-Adrenal|Chemodectoma|Chemodectomas|Extra-Adrenal Paraganglioma|Extra-Adrenal Paragangliomas|Nonchromaffin Paraganglioma|Non-Chromaffin Paraganglioma|Nonchromaffin Paragangliomas|Non-Chromaffin Paragangliomas|Paraganglioma, Extra Adrenal|Paraganglioma, Nonchromaffin|Paraganglioma, Non Chromaffin|Paraganglioma, Non-Chromaffin|Paragangliomas, Extra-Adrenal|Paragangliomas, Familial Nonchromaffin, 1|Paragangliomas, Nonchromaffin|Paragangliomas, Non-Chromaffin
D017074|240500||Common Variable Immunodeficiency|Acquired Hypogammaglobulinemia|Acquired Hypogammaglobulinemias|ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT|ANTIBODY DEFICIENCY DUE TO CD19 DEFECT|ANTIBODY DEFICIENCY DUE TO CD20 DEFECT|ANTIBODY DEFICIENCY DUE TO CD81 DEFECT|ANTIBODY DEFICIENCY DUE TO ICOS DEFECT IMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED|ANTIBODY DEFICIENCY DUE TO TACI DEFECT|Common Variable Hypogammaglobulinemia|Common Variable Hypogammaglobulinemias|Common Variable Immune Deficiency|Common Variable Immunodeficiencies|CVID1|CVID2|CVID3|CVID4|CVID5|CVID6|CVID, INCLUDED|Deficiencies, Late-Onset Immunoglobulin|Deficiency, Late-Onset Immunoglobulin|Hypogammaglobulinemia, Acquired|Hypogammaglobulinemia, Common Variable|HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY|Hypogammaglobulinemias, Acquired|Hypogammaglobulinemias, Common Variable|Immunodeficiencies, Common Variable|Immunodeficiency, Common Variable|IMMUNODEFICIENCY, COMMON VARIABLE, 1|IMMUNODEFICIENCY, COMMON VARIABLE, 2|IMMUNODEFICIENCY, COMMON VARIABLE, 3|IMMUNODEFICIENCY, COMMON VARIABLE, 4|IMMUNODEFICIENCY, COMMON VARIABLE, 5|IMMUNODEFICIENCY, COMMON VARIABLE, 6|Immunoglobulin Deficiencies, Late-Onset|Immunoglobulin Deficiency, Late Onset|Immunoglobulin Deficiency, Late-Onset|Late-Onset Immunoglobulin Deficiencies|Late-Onset Immunoglobulin Deficiency|Variable Hypogammaglobulinemia, Common|Variable Hypogammaglobulinemias, Common
D012891||Sleep Apnea Syndromes|Apnea, Sleep|Apneas, Sleep|Apnea Syndrome, Sleep|Apnea Syndromes, Sleep|Breathing, Sleep-Disordered|Hypersomnia with Periodic Respiration|Hypopnea, Sleep|Hypopneas, Sleep|Mixed Central and Obstructive Sleep Apnea|Mixed Sleep Apnea|Mixed Sleep Apneas|Sleep Apnea|Sleep Apnea, Mixed|Sleep Apnea, Mixed Central and Obstructive|Sleep Apneas|Sleep Apneas, Mixed|Sleep Apnea Syndrome|Sleep Disordered Breathing|Sleep-Disordered Breathing|Sleep Hypopnea|Sleep Hypopneas
C567587|300779||Corneal Dystrophy, Endothelial, X-Linked|Endothelial Corneal Dystrophy, X-Linked|XECD
D012892||Sleep Deprivation|Deprivation, REM Sleep|Deprivation, Sleep|Deprivations, REM Sleep|Deprivations, Sleep|Fragmentation, Sleep|Fragmentations, Sleep|Insufficient Sleep Syndrome|Insufficient Sleep Syndromes|REM Sleep Deprivation|REM Sleep Deprivations|Sleep Deprivation, REM|Sleep Deprivations|Sleep Deprivations, REM|Sleep Fragmentation|Sleep Fragmentations|Syndrome, Insufficient Sleep|Syndromes, Insufficient Sleep
D055985||Latent Tuberculosis|Infection, Latent Tuberculosis|Infections, Latent Tuberculosis|Latent Tuberculoses|Latent Tuberculosis Infection|Latent Tuberculosis Infections|Tuberculoses, Latent|Tuberculosis Infection, Latent|Tuberculosis Infections, Latent|Tuberculosis, Latent
D036841||Ciguatera Poisoning|Ciguatera|Ciguatera Fish Poisoning|Ciguatera Fish Poisonings|Ciguatera Poisonings|Poisoning, Ciguatera|Poisoning, Ciguatera Fish|Poisonings, Ciguatera|Poisonings, Ciguatera Fish
D012893||Sleep Disorders|Long Sleeper Syndrome|Long Sleeper Syndromes|Neurogenic Tachypnea, Sleep-Related|Neurogenic Tachypneas, Sleep-Related|Phenotype, Short Sleep|Phenotypes, Short Sleep|Short Sleeper Syndrome|Short Sleeper Syndromes|Short Sleep Phenotype|Short Sleep Phenotypes|Sleep Related Neurogenic Tachypnea|Sleep-Related Neurogenic Tachypnea|Sleep-Related Neurogenic Tachypneas|Subwakefullness Syndrome|Subwakefullness Syndromes|Syndrome, Long Sleeper|Syndrome, Short Sleeper|Syndromes, Long Sleeper|Syndromes, Short Sleeper|Syndromes, Subwakefullness|Syndrome, Subwakefullness|Tachypnea, Sleep-Related Neurogenic|Tachypneas, Sleep-Related Neurogenic
C563087||Mexican Cardiomelic Dysplasia|Mesoaxial Hexadactyly and Cardiac Malformation
C537931|228900||Fibular hypoplasia and complex brachydactyly|Du Pan syndrome
C535850||Heart defects limb shortening|Cardioskeletal syndrome, Kuwaiti type|Congenital heart disease and skeletal malformations
C536737|300421||Wittwer syndrome|WTRS
607745|C564274||Epilepsy, Benign Neonatal, 3|BFIC3|BFIS3|BFNIS|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3|Convulsions, Benign Familial Neonatal, 3|SEIZURES, BENIGN FAMILIAL INFANTILE, 3|SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
D009217||Myosarcoma|Myosarcomas
D000881||Anthrax
D023521||Chlamydophila Infections|Chlamydophila Infection|Infection, Chlamydophila|Infections, Chlamydophila
D009214||Myoma|Myomas
D010202||Panophthalmitis|Panophthalmitides
C535849||Heart defect, tongue hamartoma and polysyndactyly|Ostravik lindemann solberg syndrome
D009223||Myotonic Dystrophy|Congenital Myotonic Dystrophies|Congenital Myotonic Dystrophy|Dystrophia Myotonica|Dystrophies, Congenital Myotonic|Dystrophies, Myotonic|Dystrophy, Congenital Myotonic|Dystrophy, Myotonic|Myotonia Atrophica|Myotonia Dystrophica|Myotonic Dystrophies|Myotonic Dystrophies, Congenital|Myotonic Dystrophy, Congenital|Steinert Disease|Steinert&apos;s Disease
D010201||Panniculitis, Nodular Nonsuppurative|Disease, Weber-Christian|Nodular Nonsuppurative Panniculitides|Nodular Nonsuppurative Panniculitis|Nonsuppurative Panniculitides, Nodular|Nonsuppurative Panniculitis, Nodular|Panniculitides, Nodular Nonsuppurative|Weber Christian Disease|Weber-Christian Disease
D009222||Myotonia|Myotonia, Percussion|Myotonias|Myotonias, Percussion|Myotonic Phenomenon|Myotonic Phenomenons|Percussion Myotonia|Percussion Myotonias|Phenomenon, Myotonic|Phenomenons, Myotonic
D009220||Myositis|Focal Myositides|Focal Myositis|Idiopathic Inflammatory Myopathies|Idiopathic Inflammatory Myopathy|Idiopathic Inflammatory Myositis|Infectious Myositides|Infectious Myositis|Inflammatory Muscle Disease|Inflammatory Muscle Diseases|Inflammatory Myopathies|Inflammatory Myopathies, Idiopathic|Inflammatory Myopathy|Inflammatory Myopathy, Idiopathic|Muscle Disease, Inflammatory|Muscle Diseases, Inflammatory|Myopathies, Idiopathic Inflammatory|Myopathies, Inflammatory|Myopathy, Idiopathic Inflammatory|Myopathy, Inflammatory|Myositides|Myositides, Focal|Myositides, Infectious|Myositides, Proliferative|Myositis, Focal|Myositis, Infectious|Myositis, Proliferative|Proliferative Myositides|Proliferative Myositis
D011537||Pruritus|Itching|Pruritis
D011536||Prurigo
D011539||Pruritus Vulvae
D012868||Skin Abnormalities|Abnormalities, Skin|Abnormality, Skin|Skin Abnormality
D011538||Pruritus Ani
C537117|611554||LEOPARD syndrome, 2|Leopard Syndrome 2
D011125|175100||Adenomatous Polyposis Coli|AAPC, INCLUDED|Adenomatous Intestinal Polyposes|Adenomatous Intestinal Polyposis|Adenomatous Polyposes, Familial|ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED|Adenomatous Polyposis Coli, Familial|Adenomatous Polyposis Colus|Adenomatous Polyposis, Familial|Adenomatous Polyposis of the Colon|AFAP, INCLUDED|APC|BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED|BTPS2, INCLUDED|Coli, Adenomatous Polyposis|Coli, Familial Polyposis|Coli, Hereditary Polyposis|Coli, Polyposis|Colus, Adenomatous Polyposis|Colus, Familial Polyposis|Colus, Hereditary Polyposis|Colus, Polyposis|Familial Adenomatous Polyposes|Familial Adenomatous Polyposis|FAMILIAL ADENOMATOUS POLYPOSIS 1|FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED|Familial Adenomatous Polyposis Coli|Familial Adenomatous Polyposis of the Colon|Familial Intestinal Polyposes|Familial Intestinal Polyposis|Familial Multiple Polyposes|Familial Multiple Polyposi|Familial Multiple Polyposis|Familial Multiple Polyposis Syndrome|Familial Multiple Polyposus|Familial Polyposis Coli|Familial Polyposis Colus|Familial Polyposis of the Colon|Familial Polyposis Syndrome|Familial Polyposis Syndromes|FAP1|FPC|GS, INCLUDED|Hereditary Polyposis Coli|Hereditary Polyposis Colus|Intestinal Polyposes, Familial|Intestinal Polyposis, Adenomatous|Intestinal Polyposis, Familial|Multiple Polyposes, Familial|Multiple Polyposi, Familial|Multiple Polyposis, Familial|Multiple Polyposus, Familial|Myh-Associated Polyposes|Myh Associated Polyposis|Myh-Associated Polyposis|Polyposes, Familial Adenomatous|Polyposes, Familial Multiple|Polyposes, Myh-Associated|Polyposi, Familial Multiple|Polyposis, Adenomatous Intestinal|POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME, INCLUDED|Polyposis Coli|Polyposis Coli, Adenomatous|Polyposis Coli, Familial|Polyposis Coli, Hereditary|Polyposis Colus|Polyposis Colus, Adenomatous|Polyposis Colus, Familial|Polyposis Colus, Hereditary|Polyposis, Familial Adenomatous|Polyposis, Familial Multiple|Polyposis, Myh-Associated|Polyposis Syndrome, Familial|Polyposus, Familial Multiple
C536601|204100||Amaurosis congenita of Leber, type 2|Amaurosis Congenita Of Leber Ii|LCA2|Leber Congenital Amaurosis 2|Leber congenital amaurosis type 2
C535841||Hashimoto&apos;s encephalitis|Autoimmune encephalitis|Hashimoto&apos;s encephalopathy|Steroid-responsive encephalopathy associated with autoimmune thyroiditis
C535840||Selig Benacerraf Greene syndrome|Renal dysplasia, megalocystis, and sirenomelia
C535843||Hashimoto-Pritzker syndrome|Hashimoto-Pritzker disease|Hashimoto-Pritzker histiocytosis
C535842||Thyroiditis, Chronic
C565716|610154||Deafness, Autosomal Recessive 44|DFNB44
C535844||Haspeslagh Fryns Muelenaere syndrome|Distinctive craniofacial features with Pterygia and mental retardation|Haspeslagh syndrome|Mental retardation with pterygia, shortness and distinct facial appearance|Pterygia, Mental Retardation, And Distinctive Craniofacial Features
C563095||Mental Retardation, Buenos Aires Type|Mutchinick Syndrome
C563094||Mucopolysaccharidosis Type VIII|Diferrante Syndrome|Glucosamine-6-Sulfate Sulfatase Deficiency|MPS VIII
C535846||Hay Wells syndrome recessive type|Ankyloblepharon, ectodermal defects, and cleft lip and palate and congenital adhesions between the upper and lower jaws (alveolar synechiae)
C537555|605013||Microhydranencephaly|Hydranencephaly and microcephaly|MHAC
C535861||Hemangiomatosis, familial pulmonary capillary|Familial pulmonary capillary hemangiomatosis
C563733|609338||Carotid Intimal Medial Thickness 1|CIMT1|Intimal Medial Thickness of Internal Carotid Artery
D012876||Skin Diseases, Parasitic|Disease, Parasitic Skin|Diseases, Parasitic Skin|Parasitic Skin Disease|Parasitic Skin Diseases|Skin Disease, Parasitic
D036821||Endometrial Stromal Tumors|Endolymphatic Stromal Myoses|Endolymphatic Stromal Myosis|Endometrial Stromal Tumor|Myoses, Endolymphatic Stromal|Myosis, Endolymphatic Stromal|Sarcoma, Endometrial Stromal, Low-Grade|Stromal Myoses, Endolymphatic|Stromal Myosis, Endolymphatic|Stromal Tumor, Endometrial|Stromal Tumors, Endometrial|Tumor, Endometrial Stromal|Tumors, Endometrial Stromal
D012877||Skin Manifestations|Manifestation, Skin|Manifestations, Skin|Skin Manifestation
D009234||Myxomatosis, Infectious|Infectious Myxomatoses|Infectious Myxomatosis|Myxomatoses, Infectious
D010212||Papilloma|Papillomas|Papilloma, Squamous Cell|Papillomas, Squamous Cell|Papillomatoses|Papillomatosis|Squamous Cell Papilloma|Squamous Cell Papillomas
D012874||Skin Diseases, Infectious|Disease, Infectious Skin|Diseases, Infectious Skin|Infectious Skin Disease|Infectious Skin Diseases|Skin Disease, Infectious
C537255|235510||Hennekam lymphangiectasia lymphedema syndrome|Hennekam Lymphangiectasia-Lymphedema Syndrome|Lymphangiectasies and lymphedema Hennekam type|Lymphatic Dysplasia, Generalized
D012875||Skin Diseases, Metabolic|Disease, Metabolic Skin|Diseases, Metabolic Skin|Metabolic Skin Disease|Metabolic Skin Diseases|Skin Disease, Metabolic
C567732|613123||Brugada Syndrome 8|BRGDA8
D009232||Myxoma|Angiomyxoma|Angiomyxomas|Myxomas
D010217||Phlebotomus Fever|Pappataci Fever|Pappataci Fevers|Phlebotomus Fevers|Sandfly Fever|Sandfly Fevers
C563759|609258||Myopia 9|MYP9
D009230||Myxedema|Myxedemas
D011547||Pseudohypoparathyroidism|Albright Hereditary Osteodystrophy with Multiple Hormone Resistance|PHD1b|PHD Ib|PHD Ibs|PHP Ia|Pseudohypoparathyroidisms|Pseudohypoparathyroidisms, Type Ia|Pseudohypoparathyroidisms, Type Ib|Pseudohypoparathyroidism, Type Ia|Pseudohypoparathyroidism, Type Ib|Type Ia Pseudohypoparathyroidism|Type Ia Pseudohypoparathyroidisms|Type Ib Pseudohypoparathyroidism|Type Ib Pseudohypoparathyroidisms
D012878||Skin Neoplasms|Cancer of Skin|Cancer of the Skin|Cancer, Skin|Cancers, Skin|Neoplasm, Skin|Neoplasms, Skin|Skin Cancer|Skin Cancers|Skin Neoplasm
C535854||Heavy Metal Toxicity|Chronic heavy metal poisoning|Heavy metal poisoning
C535853||Heart-hand syndrome, Spanish type|Brachydactyly and intraventricular conduction defect|Upper limb malformations and congenital cardiac anomalies
D012872||Skin Diseases, Vesiculobullous|Bullous Dermatoses|Bullous Skin Disease|Bullous Skin Diseases|Dermatoses, Bullous|Dermatoses, Subcorneal Pustular|Dermatoses, Vesiculobullous|Dermatosis, Subcorneal Pustular|Pustular Dermatoses, Subcorneal|Pustular Dermatosis, Subcorneal|Skin Disease, Bullous|Skin Diseases, Bullous|Skin Diseases, Vesicular|Skin Disease, Vesicular|Skin Disease, Vesiculobullous|Sneddon Wilkinson Disease|Sneddon-Wilkinson Disease|Subcorneal Pustular Dermatoses|Subcorneal Pustular Dermatosis|Vesicular Skin Disease|Vesicular Skin Diseases|Vesiculobullous Dermatoses|Vesiculobullous Skin Disease|Vesiculobullous Skin Diseases
C535856||Hecht Scott syndrome|Limb deficiency-heart malformation syndrome
D012873||Skin Diseases, Genetic|Disease, Genetic Skin|Diseases, Genetic Skin|Genetic Skin Disease|Genetic Skin Diseases|Skin Disease, Genetic
C535855||Hydrocephalus, endocardial fibroelastosis, and cataracts|Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts
D052016||Mucositis|Mucositides
D011542||Pseudarthrosis|Pseudarthroses|Pseudoarthroses|Pseudoarthrosis
D010211||Papilledema|Choked Disk|Choked Disks|Decreased Intraocular Pressure Associated Papilledema|Decreased Intraocular Pressure-Associated Papilledema|Disk, Choked|Disks, Choked|Edema, Optic Disk|Edema, Optic Papilla|Edema, Retinal|Edemas, Optic Disk|Edemas, Optic Papilla|Edemas, Retinal|Increased Intracranial Pressure Associated Papilledema|Increased Intracranial Pressure-Associated Papilledema|Nerve Papillitides, Optic|Nerve Papillitis, Optic|Optic Disk Edema|Optic Disk Edemas|Optic Nerve Papillitides|Optic Nerve Papillitis|Optic Papilla Edema|Optic Papilla Edemas|Optic Papillitis|Papilledema Associated with Decreased Intraocular Pressure|Papilledema Associated with Increased Intracranial Pressure|Papilledemas|Papillitides|Papillitides, Optic Nerve|Papillitis|Papillitis, Optic|Papillitis, Optic Nerve|Retinal Edema|Retinal Edemas
C535858||HEM dysplasia|Chondrodystrophy, Hydropic And Prenatally Lethal Type|Greenberg dysplasia|Greenberg Skeletal Dysplasia|Hem Skeletal Dysplasia|Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia|Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia|Moth-Eaten Skeletal Dysplasia
D012871||Skin Diseases|Dermatoses|Dermatosis|Disease, Skin|Diseases, Skin|Skin Disease
C563067||Hypospadias-Mental Retardation Syndrome
C535870||Rombo syndrome
D000868||Anterior Compartment Syndrome|Anterior Compartment Syndromes|Anterior Tibial Syndrome|Anterior Tibial Syndromes|Compartment Syndrome, Anterior|Compartment Syndromes, Anterior|Syndrome, Anterior Compartment|Syndrome, Anterior Tibial|Syndromes, Anterior Compartment|Syndromes, Anterior Tibial|Tibial Syndrome, Anterior|Tibial Syndromes, Anterior
C535871||Rommen Mueller Sybert syndrome|Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies|Short stature, heart defect and craniofacial anomalies
D000860||Anoxia|Anoxemia|Anoxemias|Anoxias|Deficiencies, Oxygen|Deficiency, Oxygen|Hypoxemia|Hypoxemias|Hypoxia|Hypoxias|Oxygen Deficiencies|Oxygen Deficiency
D009202||Cardiomyopathies|Cardiomyopathies, Primary|Cardiomyopathies, Secondary|Cardiomyopathy|Cardiomyopathy, Primary|Cardiomyopathy, Secondary|Disease, Myocardial|Disease, Primary Myocardial|Disease, Secondary Myocardial|Diseases, Myocardial|Diseases, Primary Myocardial|Diseases, Secondary Myocardial|Myocardial Disease|Myocardial Disease, Primary|Myocardial Diseases|Myocardial Disease, Secondary|Myocardial Diseases, Primary|Myocardial Diseases, Secondary|Myocardiopathies|Myocardiopathy|Primary Cardiomyopathies|Primary Cardiomyopathy|Primary Myocardial Disease|Primary Myocardial Diseases|Secondary Cardiomyopathies|Secondary Cardiomyopathy|Secondary Myocardial Disease|Secondary Myocardial Diseases
306000||GLYCOGEN STORAGE DISEASE IXa1|GLYCOGEN STORAGE DISEASE VIII, FORMERLY|GSD9A1|GSD9A2, INCLUDED|GSD IXa2, INCLUDED|GSD VIII, FORMERLY;GSD8, FORMERLY GLYCOGEN STORAGE DISEASE IXa2, INCLUDED|LIVER GLYCOGENOSIS, X-LINKED, TYPE I|LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED|XLG1|XLG2, INCLUDED
D011512||Proteus Infections|Infection, Proteus|Infections, Proteus|Proteus Infection
D012848||Sinoatrial Block|Block, Sinoatrial|Block, Sinoatrial Exit|Blocks, Sinoatrial|Blocks, Sinoatrial Exit|Exit Block, Sinoatrial|Exit Blocks, Sinoatrial|Sinoatrial Blocks|Sinoatrial Exit Block|Sinoatrial Exit Blocks
C535862||Hemifacial myohyperplasia|Hypertrophy and asymmetry of the facial muscles
C535865||Rodrigues blindness
D054685||Lymphoma, Primary Effusion|Effusion Lymphoma, Primary|Effusion Lymphomas, Primary|Lymphomas, Primary Effusion|Primary Effusion Lymphoma|Primary Effusion Lymphomas
C535864||Robinson Miller Bensimon syndrome|Deafness and onychodystrophy, dominant form
C535869||Rokitansky-Aschoff sinuses of the gallbladder|Intramural diverticulosis of the gallbladder|Rokitansky-Aschoff sinuses
415000|C564030||Spermatogenic Failure, Nonobstructive, Y-Linked|AZF REGIONS, INCLUDED|Azoospermia, Nonobstructive, Y-Linked|Oligospermia, Nonobstructive, Y-Linked|Oligozoospermia, Nonobstructive, Y-Linked|Spermatogenic Arrest, Y-Linked|SPERMATOGENIC ARREST, Y-LINKED AZOOSPERMIA FACTOR REGIONS, INCLUDED|SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED|SPERMATOGENIC FAILURE, Y-LINKED, 2|SPGFY2
309300|C562829||Megalocornea|MGC1|MGCN
D024821||Metabolic Syndrome X|Cardiovascular Syndrome, Metabolic|Cardiovascular Syndromes, Metabolic|Dysmetabolic Syndrome X|Insulin Resistance Syndrome X|Metabolic Cardiovascular Syndrome|Metabolic X Syndrome|Reaven Syndrome X|Syndrome, Metabolic Cardiovascular|Syndrome, Metabolic X|Syndrome X, Dysmetabolic|Syndrome X, Insulin Resistance|Syndrome X, Metabolic|Syndrome X, Reaven|X Syndrome, Metabolic
D000874||Anthracosilicosis|Anthracosilicoses
C567867|612900||Cerebral Palsy, Spastic Quadriplegic, 2|CPSQ2
C535881||Johnson Munson syndrome|Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|Aphalangy with Hemivertebrae
C535883||Johnston Aarons Schelley syndrome|Arthrogryposis with Hyperkeratosis|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns
C535882||Johnson neuroectodermal syndrome|AADH syndrome|Alopecia anosmia deafness hypogonadism syndrome|Alopecia-Anosmia-Deafness-Hypogonadism Syndrome|Johnson-Mcmillin syndrome
D009209||Myofascial Pain Syndromes|Myofascial Pain Syndrome|Myofascial Trigger Point Pain|Pain Syndrome, Myofascial|Pain Syndromes, Myofascial|Syndrome, Myofascial Pain|Syndromes, Myofascial Pain|Trigger Point Pain, Myofascial
D011529||Protozoan Infections, Animal|Animal Protozoan Infection|Animal Protozoan Infections|Infection, Animal Protozoan|Infections, Animal Protozoan|Protozoan Infection, Animal
C538363|601777||Retinal cone dystrophy 2|Cone degeneration, autosomal dominant progressive|Cone-Rod Dystrophy 6|CORD6|RCD2|RETINAL CONE DYSTROPHY 2
D009208||Myoepithelioma|Myoepithelial Tumor|Myoepithelial Tumors|Myoepitheliomas|Tumor, Myoepithelial|Tumors, Myoepithelial
D009207||Myoclonus|Action Myoclonus|Extremity Myoclonus, Lower|Extremity Myoclonus, Upper|Eyelid Myoclonus|Intention Myoclonus|Jerking, Myoclonic|Jerk, Myoclonic|Jerks, Myoclonic|Lower Extremity Myoclonus|Myoclonic Jerk|Myoclonic Jerking|Myoclonic Jerks|Myoclonus, Action|Myoclonus, Eyelid|Myoclonus, Intention|Myoclonus, Lower Extremity|Myoclonus, Nocturnal|Myoclonus, Oculopalatal|Myoclonus, Palatal|Myoclonus, Segmental|Myoclonus Simplex|Myoclonus, Sleep|Myoclonus, Upper Extremity|Nocturnal Myoclonus|Oculopalatal Myoclonus|Palatal Myoclonus|Polymyoclonus|Segmental Myoclonus|Simplex, Myoclonus|Sleep Myoclonus|Upper Extremity Myoclonus
D009205||Myocarditis|Carditis|Myocarditides
261515||D-BIFUNCTIONAL PROTEIN DEFICIENCY|17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY|DBP DEFICIENCY|PBFE DEFICIENCY|PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY
C565733|604928||Wolfram Syndrome 2|WFS2
D009212||Myoglobinuria|Myoglobinurias
D012852||Sinusitis|Sinusitides
C566608|601885||Cataract, Zonular Pulverulent 3|CAE3|CATARACT 14, MULTIPLE TYPES|CATARACT, ZONULAR PULVERULENT 3|CTRCT14|CZP3
219500|C535408||Gamma-cystathionase deficiency|CYSTATHIONASE DEFICIENCY|Cystathioninuria
D011528||Protozoan Infections|Histomoniases|Histomoniasis|Infection, Protozoan|Infections, Protozoan|Protozoan Infection
D012857||Situs Inversus|Inversus, Situs|Situs Inversus Viscerum
116860|D020786||Hemangioma, Cavernous, Central Nervous System|Angioma, Familial Cavernous|Angiomas, Familial Cavernous|Angiomatous Malformation, Cavernous|Angiomatous Malformations, Cavernous|Brain Cavernous Hemangioma|Brain Cavernous Hemangiomas|CAM|Capillary Malformation, Cerebral|Capillary Malformations, Cerebral|Cavernous Angioma, Central Nervous System|Cavernous Angioma, Familial|Cavernous Angiomas, Familial|Cavernous Angiomatous Malformation|Cavernous Angiomatous Malformations|Cavernous Hemangioma, Central Nervous System|Cavernous Hemangioma, Cerebral|Cavernous Hemangioma, Extracerebral|Cavernous Hemangioma, Intracerebral|Cavernous Hemangioma of Brain|Cavernous Hemangiomas, Cerebral|Cavernous Hemangiomas, Extracerebral|Cavernous Hemangiomas, Intracerebral|Cavernous Malformation, Cerebral|Cavernous Malformation, Familial|Cavernous Malformations, Cerebral|Cavernous Malformations, Familial|CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED|CCM|CCM1, INCLUDED|Central Nervous System Cavernous Hemangioma|Cerebral Capillary Malformation|Cerebral Capillary Malformations|CEREBRAL CAPILLARY MALFORMATIONS CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED|Cerebral Cavernous Hemangioma|Cerebral Cavernous Hemangiomas|Cerebral Cavernous Malformation|Cerebral Cavernous Malformations|Extracerebral Cavernous Hemangioma|Extracerebral Cavernous Hemangiomas|Familial Cavernous Angioma|Familial Cavernous Angiomas|Familial Cavernous Malformation|Familial Cavernous Malformations|Hemangioma, Cerebral Cavernous|Hemangioma, Extracerebral Cavernous|Hemangioma, Intracerebral Cavernous|Hemangiomas, Cerebral Cavernous|Hemangiomas, Extracerebral Cavernous|Hemangiomas, Intracerebral Cavernous|HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED|Intracerebral Cavernous Hemangioma|Intracerebral Cavernous Hemangiomas|Malformation, Cavernous Angiomatous|Malformation, Cerebral Capillary|Malformation, Cerebral Cavernous|Malformation, Familial Cavernous|Malformations, Cavernous Angiomatous|Malformations, Cerebral Capillary|Malformations, Cerebral Cavernous|Malformations, Familial Cavernous
C535874||Rowley-Rosenberg syndrome|Growth retardation, pulmonary hypertension, and aminoaciduria|Growth Retardation, Pulmonary Hypertension, and Amino Aciduria
C563080||Lysine Malabsorption Syndrome
C538416|302960||Chondrodysplasia punctata 2, X-linked dominant|CDPX2|CDPXD|CONRADI-HUNERMANN-HAPPLE SYNDROME|CONRADI-HUNERMANN SYNDROME|CPXD|HAPPLE SYNDROME
C535876||Rozin Hertz Goodman syndrome|Camptodactyly, joint contractures, facial skeletal defects|Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
C535875||Roy Maroteaux Kremp syndrome|Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia
C563086||Ataxia-Microcephaly-Cataract Syndrome|AMC Syndrome
C535878||Rud Syndrome|Dwarfism ichthyosiform erythroderma mental deficiency syndrome|Ichthyosis hypogonadism mental retardation epilepsy syndrome|Ichthyosis male hypogonadism syndrome|Ichthyosis mental retardation-epilepsy hypogonadism syndrome|Ichthyosis oligophrenia epilepsy syndrome|Neuroichthyosis hypogonadism syndrome|Rud&apos;s syndrome
D012851||Sinus Thrombosis, Intracranial|Cranial Sinus Thromboses|Cranial Sinus Thrombosis|Intracranial Sinus Thrombophlebitides|Intracranial Sinus Thrombophlebitis|Intracranial Sinus Thromboses|Intracranial Sinus Thrombosis|Petrous Sinus Thrombophlebitides|Petrous Sinus Thrombophlebitis|Petrous Sinus Thromboses|Petrous Sinus Thrombosis|Sinus Thrombophlebitides, Intracranial|Sinus Thrombophlebitides, Petrous|Sinus Thrombophlebitis, Intracranial|Sinus Thrombophlebitis, Petrous|Sinus Thromboses|Sinus Thromboses, Cranial|Sinus Thromboses, Intracranial|Sinus Thromboses, Petrous|Sinus Thrombosis|Sinus Thrombosis, Cranial|Sinus Thrombosis, Petrous|Thrombophlebitides, Intracranial Sinus|Thrombophlebitides, Petrous Sinus|Thrombophlebitis, Intracranial Sinus|Thrombophlebitis, Petrous Sinus|Thromboses, Cranial Sinus|Thromboses, Intracranial Sinus|Thromboses, Petrous Sinus|Thromboses, Sinus|Thrombosis, Cranial Sinus|Thrombosis, Intracranial Sinus|Thrombosis, Petrous Sinus|Thrombosis, Sinus|Venous Sinus Thrombosis, Cranial
C563085||Mercaptolactate-Cysteine Disulfiduria|Disulfiduria, Mixed
C535877||Rubinstein Taybi like syndrome
C535879||Rudd Klimek syndrome|Caudal dysgenesis familial type|Familial caudal dysgenesis
C563162|118600||Chondrocalcinosis 2|Calcium Gout|Calcium Pyrophosphate Arthropathy|Calcium Pyrophosphate Dihydrate Deposition Disease|CCAL2|Chondrocalcinosis, Familial Articular|CPPDD
D040181||Genetic Diseases, X-Linked|Diseases, X-Linked Genetic|Disease, X-Linked Genetic|Genetic Diseases, X Chromosome Linked|Genetic Diseases, X-Chromosome Linked|Genetic Diseases, X Linked|Genetic Disease, X-Linked|X-Linked Genetic Disease|X Linked Genetic Diseases|X-Linked Genetic Diseases
C567763||Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth|Clapo|Lopez-Gutierrez Syndrome
C566433||Chromosome 16p13.3 Deletion Syndrome|RSTS, Severe|Rubinstein-Taybi Syndrome, Severe
614021||VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3|CPVT3
261100||MEGALOBLASTIC ANEMIA 1|ENTEROCYTE COBALAMIN MALABSORPTION|ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF|IGS|IMERSLUND-GRASBECK SYNDROME|MGA1|PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA
C565103||Dermoodontodysplasia
C566434||Myasthenia, Limb-Girdle, with Tubular Aggregates
C567228|612631||Adenylate Kinase Deficiency, Hemolytic Anemia Due To
D011618||Psychotic Disorders|Brief Reactive Psychoses|Brief Reactive Psychosis|Disorder, Psychotic|Disorder, Schizoaffective|Disorder, Schizophreniform|Disorders, Psychotic|Disorders, Schizoaffective|Disorders, Schizophreniform|Psychoses|Psychoses, Brief Reactive|Psychosis|Psychosis, Brief Reactive|Psychotic Disorder|Reactive Psychoses, Brief|Reactive Psychosis, Brief|Schizoaffective Disorder|Schizoaffective Disorders|Schizophreniform Disorder|Schizophreniform Disorders
C565109||Dermal Ridges, Patternless
C566594|601992||Friedreich Ataxia 2|FRDA2
C538141|272300||Sulfite oxidase deficiency|SULFITE OXIDASE DEFICIENCY|Sulfocysteinuria
174900|C537702||Juvenile polyposis syndrome|Bmpr1a-Related Juvenile Polyposis|JIP|JPS|Juvenile intestinal polyposis|Juvenile Polyposis Coli|JUVENILE POLYPOSIS COLI, INCLUDED|Juvenile Polyposis, Infantile|Juvenile Polyposis Of Infancy|Juvenile Polyposis Of Stomach|PJI|Polyposis, familial, of entire gastrointestinal tract|POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT JUVENILE POLYPOSIS OF STOMACH, INCLUDED|Polyposis, juvenile intestinal|Smad4-Related Juvenile Polyposis
C567074|611535||Major Affective Disorder 5|BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD5
D048909||Diabetes Complications|Complications of Diabetes Mellitus|Diabetes Complication|Diabetes Mellitus Complication|Diabetes Mellitus Complications|Diabetes-Related Complication|Diabetes Related Complications|Diabetes-Related Complications|Diabetic Complication|Diabetic Complications
C565357|605192||Deafness, Autosomal Dominant 23|DFNA23
C566924|611543||Cavitary Optic Disc Anomalies
C565110||Dermal Ridges, Nelson Syndrome
C566436|610535||Glaucoma 1, Open Angle, M|GLC1M
C565115||Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques
C565117||Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
C566448||Microphthalmia, Cataracts, and Iris Abnormalities
C565118||Deafness-Craniofacial Syndrome
C565112||Deoxyribose-5-Phosphate Aldolase Deficiency
C565221|609820||Erythrocytosis, Familial, 3|ECYT3
C566444||Giant Axonal Neuropathy, Autosomal Dominant
C566445||Myopathy, Distal 3
D064146||Chemotherapy-Induced Febrile Neutropenia|Chemotherapy Induced Febrile Neutropenia|Chemotherapy-Induced Febrile Neutropenias|Drug Induced Febrile Neutropenia|Drug-Induced Febrile Neutropenia|Drug-Induced Febrile Neutropenias|Febrile Neutropenia, Chemotherapy-Induced|Febrile Neutropenia, Drug-Induced|Febrile Neutropenias, Chemotherapy-Induced|Febrile Neutropenias, Drug-Induced|Neutropenia, Chemotherapy-Induced Febrile|Neutropenia, Drug-Induced Febrile|Neutropenias, Chemotherapy-Induced Febrile|Neutropenias, Drug-Induced Febrile
D011629||Puberty, Precocious|Precocious Puberty
D011628||Puberty, Delayed|Delayed Puberty
D064147||Febrile Neutropenia|Febrile Neutropenias|Neutropenia, Febrile|Neutropenias, Febrile
C565119||Deafness with Anhidrotic Ectodermal Dysplasia
D009304||Nasopharyngitis|Nasopharyngitides
D009303||Nasopharyngeal Neoplasms|Cancer, Nasopharyngeal|Cancer, Nasopharynx|Cancer of Nasopharynx|Cancer of the Nasopharynx|Cancers, Nasopharyngeal|Cancers, Nasopharynx|Nasopharyngeal Cancer|Nasopharyngeal Cancers|Nasopharyngeal Neoplasm|Nasopharynx Cancer|Nasopharynx Cancers|Nasopharynx Neoplasm|Nasopharynx Neoplasms|Neoplasm, Nasopharyngeal|Neoplasm, Nasopharynx|Neoplasms, Nasopharyngeal|Neoplasms, Nasopharynx
D009302||Nasopharyngeal Diseases|Disease, Nasopharyngeal|Diseases, Nasopharyngeal|Diseases of Nasopharynx|Nasopharyngeal Disease|Nasopharynx Disease|Nasopharynx Diseases
D011625||Pterygium|Pterygiums
D029424|606963||Pulmonary Disease, Chronic Obstructive|Airflow Obstruction, Chronic|Airflow Obstructions, Chronic|Chronic Airflow Obstruction|Chronic Airflow Obstructions|Chronic Obstructive Airway Disease|Chronic Obstructive Lung Disease|Chronic Obstructive Pulmonary Disease|COAD|COPD|COPD, SEVERE EARLY-ONSET, INCLUDED|PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN, INCLUDED|PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET, INCLUDED
C579754||abc disease
602032||ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE|ECTD4|ECTODERMAL DYSPLASIA, &apos;PURE&apos; HAIR/NAIL TYPE
C567781||Bifid Nose, Autosomal Dominant
C535418|607831||Charcot-Marie-Tooth disease, Type 2K|Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K|Charcot-Marie-Tooth disease, axonal, Type 2K|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED|Cmt2k|CMT 2K
C565120||Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease
D052177||Kidney Diseases, Cystic|Cystic Kidney|Cystic Kidney Disease|Cystic Kidney Diseases|Cystic Kidneys|Cystic Renal Disease|Cystic Renal Diseases|Disease, Cystic Kidney|Disease, Cystic Renal|Diseases, Cystic Kidney|Diseases, Cystic Renal|Kidney, Cystic|Kidney Disease, Cystic|Kidneys, Cystic|Renal Disease, Cystic|Renal Diseases, Cystic
C566574|602111||Spondyloepimetaphyseal Dysplasia, Missouri Type|MANDP1, INCLUDED|SEMD, Missouri Type|SEMD, MISSOURI TYPE METAPHYSEAL ANADYSPLASIA 1, INCLUDED
D052178||Cephalopelvic Disproportion|Disproportion, Cephalopelvic
254500|D009101||Multiple Myeloma|AL AMYLOIDOSIS, INCLUDED|AL, INCLUDED|AMYLOIDOSIS, SYSTEMIC, INCLUDED|Cell Myeloma, Plasma|Cell Myelomas, Plasma|Disease, Kahler|Kahler Disease|Multiple Myelomas|Myeloma Multiple|Myeloma-Multiple|Myeloma, Multiple|Myeloma-Multiples|Myeloma, Plasma Cell|Myeloma, Plasma-Cell|Myelomas, Multiple|Myelomas, Plasma Cell|Myelomas, Plasma-Cell|Myelomatoses|Myelomatosis|Plasma Cell Myeloma|Plasma-Cell Myeloma|Plasma Cell Myelomas|Plasma-Cell Myelomas
D007184|308300||Incontinentia Pigmenti|Bloch-Siemens-Sulzberger Syndrome|Bloch-Siemens Syndrome|Bloch Sulzberger Syndrome|Bloch-Sulzberger Syndrome|INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE|INCONTINENTIA PIGMENTI, TYPE II, FORMERLY|IP|IP2, FORMERLY|Syndrome, Bloch-Sulzberger
C567745||Epilepsy, Benign Neonatal, 1, Atypical Severe
C567744||Convulsions, Benign Familial Neonatal, 1, And/Or Myokymia
C567746||Convulsions, Benign Familial Neonatal, 1, Atypical Severe
C567743||Epilepsy, Benign Neonatal, 1, And/Or Myokymia
C566417||Endotoxin Hyporesponsiveness
C567749||Vertigo, Benign Recurrent, 2
C567217|612639||Inflammatory Bowel Disease 26|IBD26
145650|C564154||Thyroid Hormone Resistance, Selective Pituitary|Hyperthyroidism, Familial, due to Inappropriate Thyrotropin Secretion|PRTH
602025||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9|BMIQ9|OBESITY, SUSCEPTIBILITY TO
D018979|147421||Myositis, Inclusion Body|IBM|Inclusion Body Myopathy, Sporadic|Inclusion Body Myositides|Inclusion Body Myositis|Inclusion Body Myositis, Sporadic|Myopathy, Inclusion Body, Sporadic|Myositides, Inclusion Body|Myositis, Inclusion Body, Sporadic|Sporadic Inclusion Body Myositis
C538348|609284||Nemaline myopathy 1|CAPM1, INCLUDED|CAP MYOPATHY 1, INCLUDED|Cap Myopathy, Tpm3-Related|NEM1|Nemaline myopathy caused by mutation in the tropomyosin 3 gene
C567752||Hemophagocytic Lymphohistiocytosis, Familial, 5|Fhl5
208050|C565942||Arterial Tortuosity Syndrome|Arterial Tortuosity|ATS
C537688|610188||Joubert syndrome 5|JBTS5
C566422||Peroxisome Biogenesis Disorder, Complementation Group 7|Peroxisome Biogenesis Disorder, Complementation Group B
D005166|227400||Factor V Deficiency|Deficiencies, Factor V|Deficiencies, Labile Factor|Deficiency, Factor V|Deficiency, Labile Factor|Disease, Owren|Disease, Owren&apos;s|Factor V Deficiencies|Labile Factor Deficiencies|Labile Factor Deficiency|Owren Disease|Owren Parahemophilia|Owren&apos;s Disease|Owrens Disease|Parahemophilia|Parahemophilia, Owren|Parahemophilias
C566428||Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
194080|D030321||Denys-Drash Syndrome|DDS|Denys Drash Syndrome|Drash Syndrome|Nephropathy, Wilms Tumor, and Genital Anomalies|Pseudohermaphroditism, Nephron Disorder and Wilms&apos; Tumor|Syndrome, Denys-Drash|Syndrome, Drash|Wilms Tumor and Pseudohermaphroditism|WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM
C567759||Achromatopsia 5
D011602||Psychophysiologic Disorders|Psychophysiological Disorder|Psychophysiological Disorders|Psychophysiologic Disorder|Psychosomatic Disorder|Psychosomatic Disorders
D011605||Psychoses, Substance-Induced|Drug Psychoses|Psychoses, Drug|Psychoses, Substance Induced|Psychoses, Toxic|Substance Induced Psychoses|Substance-Induced Psychoses|Toxic Psychoses
D011604||Psychoses, Alcoholic|Alcoholic Psychoses
C567761||Asphyxiating Thoracic Dystrophy 3
C567760||Hyperuricemic Nephropathy, Familial Juvenile 2|Early-Onset Hyperuricemia, Anemia, And Progressive Kidney Failure|Hnfj2
C567683|613252||Cardiomyopathy, Dilated, 1EE|CMD1EE
C564835|268100||Enhanced S-Cone Syndrome|ESCS|Favre Hyaloideoretinal Degeneration|FAVRE HYALOIDEORETINAL DEGENERATION, INCLUDED|Goldmann-Favre Syndrome|GOLDMANN-FAVRE SYNDROME, INCLUDED|Retinoschisis with Early Hemeralopia|RETINOSCHISIS WITH EARLY HEMERALOPIA, INCLUDED
C536430|216360||COACH syndrome|Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis|Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis|JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS
D048949||Labor Pain|Obstetric Pain|Pain, Labor|Pain, Obstetric
C567727||Walker-Warburg Syndrome, Fktn-Related|Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A
C543759||Juvenile-onset scleroderma|Juvenile Scleroderma
C543758||Juvenile linear scleroderma
D012909||Snake Bites|Bite, Snake|Bites, Snake|Envenomation, Snake|Envenomations, Snake|Snakebite|Snake Bite|Snakebites|Snake Envenomation|Snake Envenomations
C531767||Edema of the optic disc
C531768||Colangite esclerosante porracoccidiodomicose
605990||NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO|UAN|UROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO
C537849|310600||Norrie disease|Anderson-Warburg Syndrome|Atrophia bulborum hereditaria|Congenital Progressive Oculo-Acoustico-Cerebral Degeneration|Episkopi blindness|Fetal Iritis Syndrome|ND|Norrie&apos;s Disease|Norrie syndrome|Norrie-Warburg syndrome|Oligophrenia Microphthalmus|Pseudoglioma|Pseudoglioma Congenita|Whitnall-Norman Syndrome
144150|C538377||Hyperkeratosis lenticularis perstans|Flegel disease|Flegel&apos;s disease|HLP|Hyperkeratosis lenticularis perstans of Flegel
C531760||Oro-facial gangrene|Noma neonatorum|Oral gangrene|Oro-facial noma
C531762||Alkaptonuric ochronosis|Exogenous ochronosis|Ocular ochronosis|Pseudo-ochronosis
C565192|610717||Neutral Lipid Storage Disease with Myopathy|Neutral Lipid Storage Disease without Ichthyosis|NLSDM
C531763||Irritable heart|Soldiers heart
C535302|302801||Charcot-Marie-Tooth disease, X-linked recessive, 2|Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2|CMTX2
C531766||Inflammation of the whole uveal tract
C566402||Methylmalonate Semialdehyde Dehydrogenase Deficiency|MMSDH Deficiency
D015192||Infratentorial Neoplasms|Benign Infratentorial Neoplasm|Benign Infratentorial Neoplasms|Cancer, Infratentorial|Cancers, Infratentorial|Infratentorial Cancer|Infratentorial Cancers|Infratentorial Neoplasm|Infratentorial Neoplasm, Benign|Infratentorial Neoplasm, Malignant|Infratentorial Neoplasms, Benign|Infratentorial Neoplasms, Malignant|Infratentorial Tumor|Infratentorial Tumors|Malignant Infratentorial Neoplasm|Malignant Infratentorial Neoplasms|Neoplasm, Benign Infratentorial|Neoplasm, Infratentorial|Neoplasm, Malignant Infratentorial|Neoplasm, Posterior Fossa|Neoplasms, Benign Infratentorial|Neoplasms, Infratentorial|Neoplasms, Malignant Infratentorial|Neoplasms, Posterior Fossa|Posterior Fossa Neoplasm|Posterior Fossa Neoplasms|Posterior Fossa Tumor|Posterior Fossa Tumors|Tumor, Infratentorial|Tumor, Posterior Fossa|Tumors, Infratentorial|Tumors, Posterior Fossa
C565712|610163||Immunodeficiency due to Defect in CD3-Zeta
C566405||Peroxisome Biogenesis Disorder, Complementation Group 12
C536725|135500||Zimmerman Laband syndrome|Fibromatosis, Gingival, With Abnormal Fingers, Fingernails, Nose And Ears, And Splenomegaly|Laband syndrome|Zimmermann-Laband Syndrome|ZLS
C567731||Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
C567340|612350||Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like|SCDEDS|SCD-EDS
C566406||Peroxisome Biogenesis Disorder, Complementation Group G
C565081|127100||Dwarfism, Levi Type|Snub-Nosed Type of Dwarfism
C566408||Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation
C566409||Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal
255500|C567606||Myopia 18, Autosomal Recessive|Myopia 18|MYP18
D012913||Snoring|Snorings
611152|C567000||Alzheimer Disease 13|AD13
D012912||Sneezing|Sneezings
D059607||Polydipsia, Psychogenic|Polydipsia, Primary|Polydipsias, Primary|Polydipsias, Psychogenic|Primary Polydipsia|Primary Polydipsias|Psychogenic Polydipsia|Psychogenic Polydipsias
D059606||Polydipsia|Polydipsias
D059608||Laryngocele|Laryngoceles
C531774||Familial pars planitis
C564502|300504||Mental Retardation, X-Linked 52|MRX52
C531777||Islet cell tumor syndrome|Bilateral pheochromocytoma and islet cell adenoma of the pancreas|Chromaffinoma|Familial islet cell tumors|Familial pheochromocytoma
D015163||Superinfection|Microbial Superinvasion|Microbial Superinvasions|Superinfections|Superinvasion, Microbial|Superinvasions, Microbial
D015161||Dementia, Multi-Infarct|Dementia, Lacunar|Dementia, Multiinfarct|Dementia Multi Infarct|Dementia Multi-Infarct|Dementia, Multi Infarct|Dementia Multi-Infarcts|Dementias, Lacunar|Dementias, Multiinfarct|Dementias, Multi-Infarct|Lacunar Dementia|Lacunar Dementias|Multiinfarct Dementia|Multi Infarct Dementia|Multi-Infarct Dementia|Multi-Infarct, Dementia|Multiinfarct Dementias|Multi-Infarct Dementias|Multi-Infarcts, Dementia
D016491||Peripheral Vascular Diseases|Angiopathies, Peripheral|Angiopathy, Peripheral|Disease, Peripheral Vascular|Diseases, Peripheral Vascular|Peripheral Angiopathies|Peripheral Angiopathy|Peripheral Vascular Disease|Vascular Disease, Peripheral|Vascular Diseases, Peripheral
D006526|609532||Hepatitis C|HCV, RESISTANCE TO, INCLUDED|HCV, SUSCEPTIBILITY TO HEPATITIS C VIRUS, RESISTANCE TO, INCLUDED|HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF, INCLUDED|HEPATITIS C VIRUS, SUSCEPTIBILITY TO|Hepatitis, Viral, Non-A, Non-B, Parenterally-Transmitted|Parenterally Transmitted Non A, Non B Hepatitis|Parenterally-Transmitted Non-A, Non-B Hepatitis|PT-NANBH
C535743|608799||Congenital disorder of glycosylation type 1E|CDG1E|CDGIe|CDG Ie|Congenital Disorder of Glycosylation, Type IE
D060605||Hyalohyphomycosis|Cutaneous Hyalohyphomycoses|Cutaneous Hyalohyphomycosis|Disseminated Hyalohyphomycoses|Disseminated Hyalohyphomycosis|Hyalohyphomycoses|Hyalohyphomycoses, Cutaneous|Hyalohyphomycoses, Disseminated|Hyalohyphomycoses, Invasive|Hyalohyphomycoses, Pulmonary|Hyalohyphomycoses, Splenic|Hyalohyphomycoses, Subcutaneous|Hyalohyphomycosis, Cutaneous|Hyalohyphomycosis, Disseminated|Hyalohyphomycosis, Invasive|Hyalohyphomycosis, Pulmonary|Hyalohyphomycosis, Splenic|Hyalohyphomycosis, Subcutaneous|Invasive Hyalohyphomycoses|Invasive Hyalohyphomycosis|Pulmonary Hyalohyphomycoses|Pulmonary Hyalohyphomycosis|Splenic Hyalohyphomycoses|Splenic Hyalohyphomycosis|Subcutaneous Hyalohyphomycoses|Subcutaneous Hyalohyphomycosis
D048968||Morning Sickness|Sickness, Morning
C567705||Chromosome 17p13.3 Duplication Syndrome
C567704||CSNB1C|Night Blindness, Congenital Stationary, Type 1C
C565158|121400||Cornea Plana 1|CNA1
C567504|611884||Ciliary Dyskinesia, Primary, 7|Cild7|Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
136760||FRONTONASAL DYSPLASIA 1|FND|FND1|FNM|FRONTONASAL DYSPLASIA|FRONTONASAL MALFORMATION|FRONTORHINY|MEDIAN FACIAL CLEFT SYNDROME
D016489||Head Injuries, Closed|Blunt Head Injuries|Blunt Head Injury|Closed Head Injuries|Closed Head Injury|Closed Head Trauma|Closed Head Traumas|Head Injuries, Blunt|Head Injuries, Nonpenetrating|Head Injury, Blunt|Head Injury, Closed|Head Injury, Nonpenetrating|Head Trauma, Closed|Head Traumas, Closed|Injuries, Closed Head|Nonpenetrating Head Injuries|Nonpenetrating Head Injury|Trauma, Closed Head|Traumas, Closed Head
C531782||Endemic treponematosis caused by Treponema carateum
D015155||Esophageal Spasm, Diffuse|Diffuse Esophageal Spasm|Diffuse Esophageal Spasms|Esophageal Spasm|Esophageal Spasms|Esophageal Spasms, Diffuse|Spasm, Diffuse Esophageal|Spasm, Esophageal|Spasms, Diffuse Esophageal|Spasms, Esophageal
D014901|610379||West Nile Fever|Encephalitis, West Nile Fever|West Nile Fever Encephalitis|West Nile Fever Meningitis|West Nile Fever Meningoencephalitis|West Nile Fever Myelitis|WEST NILE VIRUS, SUSCEPTIBILITY TO|WNV, SUSCEPTIBILITY TO
C531783||Hip socket neuropathy|Deep gluteal syndrome|Pseudosciatica|Wallet sciatica
D015154||Esophageal Motility Disorders|Disorder, Esophageal Motility|Disorders, Esophageal Motility|Dysmotilities, Esophageal|Dysmotility, Esophageal|Esophageal Dysmotilities|Esophageal Dysmotility|Esophageal Motility Disorder|Esophagus, Nutcracker|Motility Disorder, Esophageal|Motility Disorders, Esophageal|Nutcracker Esophagus
C531784||Familial pityriasis rubra pilaris|Pityriasis rubra pilaris--familial type
613024|D008224||Lymphoma, Follicular|Brill Symmers Disease|Brill-Symmers Disease|Disease, Brill-Symmers|FL1|Follicular Large Cell Lymphoma|Follicular Large-Cell Lymphoma|Follicular Large-Cell Lymphomas|Follicular Lymphoma|Follicular Lymphoma, Giant|Follicular Lymphoma, Grade 1|Follicular Lymphoma, Grade 2|Follicular Lymphoma, Grade 3|Follicular Lymphomas|Follicular Lymphomas, Giant|FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1|Follicular Mixed Cell Lymphoma|Follicular Mixed-Cell Lymphoma|Follicular Mixed-Cell Lymphomas|Giant Follicular Lymphoma|Giant Follicular Lymphomas|Histiocytic Lymphoma, Nodular|Histiocytic Lymphomas, Nodular|Large Cell Lymphoma, Follicular|Large-Cell Lymphoma, Follicular|Large-Cell Lymphomas, Follicular|Large Lymphoid Lymphoma, Nodular|Lymphocytic Lymphoma, Nodular, Poorly Differentiated|Lymphocytic Lymphoma, Nodular, Poorly-Differentiated|Lymphoma, Follicular, Grade 1|Lymphoma, Follicular, Grade 2|Lymphoma, Follicular, Grade 3|Lymphoma, Follicular Large Cell|Lymphoma, Follicular Large-Cell|Lymphoma, Follicular Mixed-Cell|Lymphoma, Follicular, Mixed Cell|Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic|Lymphoma, Follicular, Mixed Small and Large Lymphoid|Lymphoma, Follicular, Small and Large Cleaved Cell|Lymphoma, Follicular, Small and Large Cleaved-Cell|Lymphoma, Giant Follicular|Lymphoma, Histiocytic, Nodular|Lymphoma, Large Cell, Follicular|Lymphoma, Large-Cell, Follicular|Lymphoma, Large Lymphoid, Nodular|Lymphoma, Lymphocytic, Nodular, Poorly Differentiated|Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated|Lymphoma, Mixed-Cell, Follicular|Lymphoma, Nodular|Lymphoma, Nodular Histiocytic|Lymphoma, Nodular, Large Follicular Center Cell|Lymphoma, Nodular, Large Follicular Center-Cell|Lymphoma, Nodular, Mixed Lymphocytic Histiocytic|Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic|Lymphoma, Nodular, Mixed Small and Large Cell|Lymphomas, Follicular|Lymphomas, Follicular Large-Cell|Lymphomas, Follicular Mixed-Cell|Lymphomas, Giant Follicular|Lymphoma, Small Cleaved Cell, Follicular|Lymphoma, Small Cleaved-Cell, Follicular|Lymphoma, Small Follicular Center Cell|Lymphoma, Small Follicular Center-Cell|Lymphoma, Small Lymphoid, Follicular|Lymphomas, Nodular|Lymphomas, Nodular Histiocytic|Mixed Cell Lymphoma, Follicular|Mixed-Cell Lymphoma, Follicular|Mixed-Cell Lymphomas, Follicular|Nodular Histiocytic Lymphoma|Nodular Histiocytic Lymphomas|Nodular Large Follicular Center Cell Lymphoma|Nodular Large Follicular Center-Cell Lymphoma|Nodular Lymphoma|Nodular Lymphomas|Small Cleaved Cell Lymphoma, Follicular|Small Cleaved-Cell Lymphoma, Follicular|Small Follicular Center Cell Lymphoma|Small Follicular Center-Cell Lymphoma
C563352|601318||Diabetes Mellitus, Insulin-Dependent, 13|IDDM13|Insulin-Dependent Diabetes Mellitus 13
C567712||Retinitis Pigmentosa, Concentric|Retinitis Pigmentosa 50
C535343|605387||Cataract, posterior polar, 3|CATARACT 31, MULTIPLE TYPES|CATARACT, POSTERIOR POLAR, 3|CPP3|CTPP3|CTRCT31
C566987|611182||Congenital Disorder Of Glycosylation, Type IIH|CDG2H|CDG IIh|CDGIIH|CDG IIIH
C563240|606215||Atrioventricular Canal Defect|ATRIOVENTRICULAR CANAL DEFECT|ATRIOVENTRICULAR SEPTAL DEFECT|AVCD|AVC Defect|AVSD|AVSD1, INCLUDED|ENDOCARDIAL CUSHION DEFECT;ECD ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1, INCLUDED
D015174||Epidural Neoplasms|Epidural Neoplasm|Epidural Neoplasm, Malignant|Epidural Neoplasms, Malignant|Epidural Tumor|Epidural Tumors|Malignant Epidural Neoplasm|Malignant Epidural Neoplasms|Neoplasms, Epidural
D015173||Supratentorial Neoplasms|Benign Supratentorial Neoplasm|Benign Supratentorial Neoplasms|Cancers, Supratentorial|Cancer, Supratentorial|Malignant Supratentorial Neoplasm|Malignant Supratentorial Neoplasms|Neoplasm, Benign Supratentorial|Neoplasm, Malignant Supratentorial|Neoplasm, Primary Supratentorial|Neoplasms, Benign Supratentorial|Neoplasms, Malignant Supratentorial|Neoplasms, Primary Supratentorial|Neoplasms, Supratentorial|Neoplasm, Supratentorial|Primary Supratentorial Neoplasm|Primary Supratentorial Neoplasms|Supratentorial Cancer|Supratentorial Cancers|Supratentorial Neoplasm|Supratentorial Neoplasm, Benign|Supratentorial Neoplasm, Malignant|Supratentorial Neoplasm, Primary|Supratentorial Neoplasms, Benign|Supratentorial Neoplasms, Malignant|Supratentorial Neoplasms, Primary|Supratentorial Tumor|Supratentorial Tumors|Tumors, Supratentorial|Tumor, Supratentorial
180020|C566719||Retinal Cone Dystrophy 1|Cone Dystrophy, Autosomal Dominant|RCD1|Retinal Cone Degeneration
C563832|608930||Myasthenic Syndrome, Congenital, Fast-Channel|FCCMS
C562419|110100||Blepharophimosis, Ptosis, and Epicanthus Inversus|Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome|Blepharophimosis, Ptosis, and Epicanthus Inversus Type I|Blepharophimosis, Ptosis, and Epicanthus Inversus Type II|Blepharophimosis Syndrome|BPES|BPES, TYPE I, AUTOSOMAL RECESSIVE, INCLUDED|BPES, TYPE II, INCLUDED|BPES, TYPE I, INCLUDED|BPES WITH DUANE RETRACTION SYNDROME, INCLUDED|BPES WITHOUT OVARIAN FAILURE, INCLUDED|BPES WITH OVARIAN FAILURE, INCLUDED
C567718||Marie Unna Hereditary Hypotrichosis 1|Hypotrichosis 4|Hypotrichosis, Marie Unna Type, 1
C537943|609528||Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome|CEDNIK syndrome
C567717||Chromosome 5p13 Duplication Syndrome
C567815|613011||Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1|LPFS1|LYMPHOPROLIFERATIVE SYNDROME 1
D003193||Compulsive Personality Disorder|Compulsive Personalities|Compulsive Personality|Compulsive Personality Disorders|Disorder, Compulsive Personality|Disorders, Compulsive Personality|Obsessive-Compulsive Personalities|Obsessive Compulsive Personality|Obsessive-Compulsive Personality|Personalities, Compulsive|Personalities, Obsessive-Compulsive|Personality, Compulsive|Personality Disorder, Compulsive|Personality Disorders, Compulsive|Personality, Obsessive-Compulsive
D015168||Lightning Injuries|Injuries, Lightning|Injury, Lightning|Lightning Injury|Lightning Stroke|Lightning Strokes|Stroke, Lightning|Strokes, Lightning
C531795||Idiopathic intracranial hypertension with papilledema
C535547|156232||Kantaputra Gorlin syndrome|MDK|Mesomelic dysplasia, Kantaputra type|Mesomelic dysplasia, Thai type|Mesomelic dysplasia with ankle, carpal, and tarsal synostosis|MMDK
600002|C564010||Eiken Skeletal Dysplasia|Bone Modeling Defect of Hands and Feet
C537883|268210||Rhabdomyosarcoma 1|RHABDOMYOSARCOMA 1|Rhabdomyosarcoma Chromosomal Region|Rhabdomyosarcoma embryonal 1|Rhabdomyosarcoma, Embryonal, 1|RMS1|RMSCR|RMSE1
122000|C562745||Corneal Dystrophy, Posterior Polymorphous, 1|Corneal Dystrophy, Hereditary Polymorphous Posterior|Posterior Polymorphous Corneal Dystrophy|PPCD|PPCD1
D016470||Bacteremia|Bacteremias
D016472||Motor Neuron Disease|Anterior Horn Cell Disease|Familial Motor Neuron Disease|Lateral Scleroses|Lateral Scleroses, Primary|Lateral Sclerosis|Lateral Sclerosis, Primary|Lower Motor Neuron Disease|Motor Neuron Disease, Familial|Motor Neuron Disease, Lower|Motor Neuron Diseases|Motor Neuron Disease, Secondary|Motor Neuron Disease, Upper|Motor System Disease|Motor System Diseases|Neuron Disease, Motor|Neuron Diseases, Motor|Primary Lateral Scleroses|Primary Lateral Sclerosis|Scleroses, Lateral|Scleroses, Primary Lateral|Sclerosis, Lateral|Sclerosis, Primary Lateral|Secondary Motor Neuron Disease|Upper Motor Neuron Disease
129600||ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT|ECTOL1
D015140||Dementia, Vascular|Acute Onset Vascular Dementia|Arteriosclerotic Dementia|Arteriosclerotic Dementias|Arteriosclerotic Encephalopathies, Subcortical|Arteriosclerotic Encephalopathy, Subcortical|Binswanger Disease|Binswanger Encephalopathy|Binswanger&apos;s Disease|Binswangers Disease|Binswanger&apos;s Encephalopathy|Chronic Progressive Subcortical Encephalopathy|Dementia, Arteriosclerotic|Dementias, Arteriosclerotic|Dementias, Subcortical Vascular|Dementia, Subcortical Vascular|Dementias, Vascular|Disease, Binswanger|Disease, Binswanger&apos;s|Encephalopathies, Subcortical Arteriosclerotic|Encephalopathy, Binswanger|Encephalopathy, Binswangers|Encephalopathy, Binswanger&apos;s|Encephalopathy, Chronic Progressive Subcortical|Encephalopathy, Subcortical Arteriosclerotic|Encephalopathy, Subcortical, Chronic Progressive|Leukoencephalopathies, Subcortical|Leukoencephalopathy, Subcortical|Subcortical Arteriosclerotic Encephalopathies|Subcortical Arteriosclerotic Encephalopathy|Subcortical Encephalopathy, Chronic Progressive|Subcortical Leukoencephalopathies|Subcortical Leukoencephalopathy|Subcortical Vascular Dementia|Subcortical Vascular Dementias|Vascular Dementia|Vascular Dementia, Acute Onset|Vascular Dementias|Vascular Dementias, Subcortical|Vascular Dementia, Subcortical
D004489||Edema, Cardiac|Cardiac Edema|Cardiac Edemas|Edemas, Cardiac
D004488||Edema Disease of Swine|Swine Edema Disease|Swine Edema Diseases
184450||STUTTERING, FAMILIAL PERSISTENT, 1|STAMMERING|STUT1
D004485||Eczema|Dermatitides, Eczematous|Dermatitis, Eczematous|Eczemas|Eczematous Dermatitides|Eczematous Dermatitis
D004487||Edema|Anasarca|Dropsy|Hydrops
D003161||Compartment Syndromes|Compartment Syndrome|Syndrome, Compartment|Syndromes, Compartment
D050030|170390||Andersen Syndrome|Andersen Cardiodysrhythmic Periodic Paralysis|Andersen Cardiodysrythmic Periodic Paralysis|ANDERSEN SYNDROME|Andersen Tawil Syndrome|Andersen-Tawil Syndrome|ATS|Long QT Syndrome 7|LQT7|Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type|Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type|Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features|Syndrome, Andersen|Syndrome, Andersen Tawil
C531728||Canicola fever|Cane-cutter fever|Mud fever|Rice-field fever|Stuttgart disease|Swineherd&apos;s disease
C531729||Autoimmune limbic encephalitis
D016469||Fungemia|Fungemias
D016463||Sweet Syndrome|Acute Febrile Neutrophilic Dermatosis|Dermatosis, Neutrophilic, Febrile, Acute|Disease, Gomm Button|Disease, Gomm-Button|Gomm Button Disease|Gomm-Button Disease|Neutrophilic Dermatosis, Acute Febrile|Sweet&apos;s Syndrome|Sweets Syndrome|Syndrome, Sweet|Syndrome, Sweet&apos;s
D016464||Lysosomal Storage Diseases|Disease, Lysosomal Storage|Diseases, Lysosomal Storage|Disorder, Lysosomal Enzyme|Disorders, Lysosomal Enzyme|Enzyme Disorder, Lysosomal|Enzyme Disorders, Lysosomal|Lysosomal Enzyme Disorder|Lysosomal Enzyme Disorders|Lysosomal Storage Disease
C531720||Noninflammatory corneal thinning
D016483||Lymphoma, AIDS-Related|AIDS Associated Lymphoma|AIDS-Associated Lymphoma|AIDS-Associated Lymphomas|AIDS Related Lymphoma|AIDS-Related Lymphoma|AIDS-Related Lymphomas|HIV Related Lymphoma|HIV-Related Lymphoma|HIV-Related Lymphomas|Lymphoma, AIDS Associated|Lymphoma, AIDS-Associated|Lymphoma, AIDS Related|Lymphoma, HIV Related|Lymphoma, HIV-Related|Lymphomas, AIDS-Associated|Lymphomas, AIDS-Related|Lymphomas, HIV-Related
184460||STAPES ANKYLOSIS WITH BROAD THUMB AND TOES|ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY|STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM|TEUNISSEN-CREMERS SYNDROME
205700|D000744||Anemia, Hemolytic, Autoimmune|Acquired Autoimmune Hemolytic Anemia|Agglutinin Disease, Cold|Agglutinin Diseases, Cold|Anemia, Autoimmune Hemolytic|Anemia, Hemolytic, Cold Antibody|Anemia, Hemolytic, Idiopathic Acquired|Anemias, Autoimmune Hemolytic|Autoimmune Hemolytic Anemia|Autoimmune Hemolytic Anemias|Cold Agglutinin Disease|Cold Agglutinin Diseases|Cold Antibody Disease|Cold Antibody Diseases|Cold Antibody Hemolytic Anemia|Disease, Cold Agglutinin|Disease, Cold Antibody|Diseases, Cold Agglutinin|Diseases, Cold Antibody|Hemolytic Anemia, Autoimmune|Hemolytic Anemias, Autoimmune|Idiopathic Autoimmune Hemolytic Anemia
611812||46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS|SERKAL|SERKAL SYNDROME
116920|C535887||Leukocyte adhesion deficiency type 1|LAD|LAD1|Leukocyte Adhesion Deficiency, Type I|Lfa1 Immunodeficiency|Lymphocyte function-associated antigen 1 immunodeficiency
C567713|613193||Ciliary Dyskinesia, Primary, 13|CILD13|Ciliary Dyskinesia, Primary, 13, With Or Without Situs Inversus
C531735||Congenital macroglossia|Enlarged tongue|Giant tongue
C531736||Acute malaria|Chronic malaria
C531737||Malignant fever|Fulminating hyperpyrexia|Pharmacogenic myopathy
D010580|175200||Peutz-Jeghers Syndrome|Hamartomatous Intestinal Polyposes|Hamartomatous Intestinal Polyposis|Intestinal Polyposes, Hamartomatous|Intestinal Polyposis, Hamartomatous|Lentiginoses, Perioral|Lentiginosis, Perioral|Perioral Lentiginoses|Perioral Lentiginosis|Periorificial Lentiginosis Syndrome|Periorificial Lentiginosis Syndromes|Peutz Jeghers Polyposis|Peutz-Jeghers Polyposis|Peutz Jegher&apos;s Syndrome|Peutz Jeghers Syndrome|Peutz-Jegher&apos;s Syndrome|Peutz-Jegher Syndrome|PJS|Polyposes, Hamartomatous Intestinal|Polyposis, Hamartomatous Intestinal|Polyposis, Peutz-Jeghers|Polyps and Spots Syndrome|Polyps-and-Spots Syndrome|Polyps-and-Spots Syndromes|Syndrome, Periorificial Lentiginosis|Syndrome, Peutz-Jeghers|Syndrome, Peutz-Jegher&apos;s|Syndrome, Polyps-and-Spots|Syndromes, Periorificial Lentiginosis|Syndromes, Polyps-and-Spots
C564908|260370||Pancreatic Agenesis, Congenital|PAGEN|Pancreatic Hypoplasia, Congenital
C531731||Lissencephaly and agenesis of corpus callosum|Subcortical laminar heterotopia, X-linked
C537581|606996||Senior-Loken syndrome 4|SLSN4
C531732||Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity
D003139||Common Cold|Acute Coryza|Catarrh|Catarrhs|Cold, Common|Colds, Common|Common Colds|Coryza, Acute
C567698|608194||Cone-Rod Dystrophy 13|CORD13
611809||BESTROPHINOPATHY, AUTOSOMAL RECESSIVE|ARB
217000||COMPLEMENT COMPONENT 2 DEFICIENCY|C2D|C2 DEFICIENCY
D003137||Common Bile Duct Diseases
C566901|611634||Febrile Convulsions, Familial, 9|FEB9|FEBRILE CONVULSIONS, FAMILIAL, 9|FEBRILE SEIZURES, FAMILIAL, 9
C538603|242100||Ichthyosiform erythroderma, Brocq congenital, nonbullous form|ARCI2|COLLODION BABY, SELF-HEALING|ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY|Ichthyosiform Erythroderma, Congenital, Nonbullous, 1|ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2|NCIE1, FORMERLY|Nonbullous congenital ichthyosiform erythroderma 1
D003138||Common Bile Duct Neoplasms
C563206|274500||Thyroid Dyshormonogenesis 2A|Hypothyroidism, Congenital, due to Dyshormonogenesis, 2A|Iodide Peroxidase Deficiency|TDH2A|Thyroid Hormonogenesis, Genetic Defect in, 2A|Thyroid Peroxidase Deficiency
C531747||Congenital facial diplegia|Facial Diplegia, Congenital
D003141||Communicable Diseases|Communicable Disease|Disease, Communicable|Disease, Infectious|Diseases, Communicable|Diseases, Infectious|Infectious Disease|Infectious Diseases
612586|C567238||Aneurysm, Intracranial Berry, 9|Anib9
D017772||Amyloid Neuropathies|Amyloid Neuropathies, Secondary|Amyloid Neuropathy|Amyloid Neuropathy, Secondary|Amyloid Polyneuropathies|Amyloid Polyneuropathy|Neuropathies, Amyloid|Neuropathies, Secondary Amyloid|Neuropathy, Amyloid|Neuropathy, Secondary Amyloid|Polyneuropathies, Amyloid|Polyneuropathy, Amyloid|Secondary Amyloid Neuropathies|Secondary Amyloid Neuropathy
D017119|176100||Porphyria Cutanea Tarda|HEP, INCLUDED|PCT|PCT, &apos;FAMILIAL&apos; TYPE|PCT, TYPE II|PORPHYRIA CUTANEA TARDA, TYPE II|PORPHYRIA, HEPATOCUTANEOUS TYPE|UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC, INCLUDED|UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
C531742||Marfanoid hypermobility syndrome|Contractural arachnodactyly|Marfan syndrome type 1
C531743||Cystic dilatation of renal collecting tubes
C536590|265380||Alveolar capillary dysplasia|ACDMPV|ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS|ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES|Congenital alveolar capillary dysplasia
115196|C566170||Cardiomyopathy, Familial Hypertrophic, 3|CMH3
D047688||Breast Cyst|Breast Cysts|Cyst, Breast|Cysts, Breast
D016460||Granuloma Annulare
203650|C565965||Alopecia-Mental Retardation Syndrome 1|AMR Syndrome|APMR1
D046350||Porphyria, Variegate|Deficiencies, Protoporphyrinogen Oxidase|Porphyria Variegata|Porphyria Variegate|Porphyria Variegates|Ppox Deficiency|Protoporphyrinogen Oxidase Deficiency|Variegate Porphyria|Variegate, Porphyria|Variegates, Porphyria
D004478||Ectoparasitic Infestations|Ectoparasitic Infestation|Infestation, Ectoparasitic|Infestations, Ectoparasitic
D003147||Communication Disorders|Acquired Communication Disorder|Acquired Communication Disorders|Childhood Communication Disorder|Childhood Communication Disorders|Communication Disabilities|Communication Disability|Communication Disorder|Communication Disorder, Acquired|Communication Disorder, Childhood|Communication Disorder, Developmental|Communication Disorder, Neurogenic|Communication Disorders, Acquired|Communication Disorders, Childhood|Communication Disorders, Developmental|Communication Disorders, Neurogenic|Communicative Disorder|Communicative Disorders|Communicative Dysfunction|Communicative Dysfunctions|Developmental Communication Disorder|Developmental Communication Disorders|Disabilities, Communication|Disability, Communication|Dysfunction, Communicative|Dysfunctions, Communicative|Neurogenic Communication Disorder|Neurogenic Communication Disorders
D004479||Ectopia Lentis|Lentis, Ectopia
D004474||Ecthyma, Contagious|Contagious Ecthyma|Contagious Pustular Dermatitides|Contagious Pustular Dermatitis|Dermatitides, Contagious Pustular|Dermatitis, Contagious Pustular|Orf|Pustular Dermatitides, Contagious|Pustular Dermatitis, Contagious
D004473||Ecthyma|Ecthymas
D005923|603278||Glomerulosclerosis, Focal Segmental|Focal Glomerulosclerosis|Focal Sclerosing Glomerulonephritides|Focal Sclerosing Glomerulonephritis|Focal Segmental Glomerulosclerosis|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO|FSGS1|FSGS3|Glomerular Hyalinosis, Segmental|Glomerulonephritides, Focal Sclerosing|Glomerulonephritis, Focal Sclerosing|Glomerulosclerosis, Focal|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, SUSCEPTIBILITY TO|Hyalinosis, Segmental|Hyalinosis, Segmental Glomerular|Sclerosing Glomerulonephritides, Focal|Sclerosing Glomerulonephritis, Focal|Segmental Glomerular Hyalinosis|Segmental Glomerulosclerosis, Focal|Segmental Hyalinosis
602092||DEAFNESS, AUTOSOMAL RECESSIVE 18A|DEAFNESS, AUTOSOMAL RECESSIVE 18|DFNB18|DFNB18A
D004480||Ectromelia|Amelia|Hemimelia|Phocomelia|Sirenomelia
D004483||Ectropion|Ectropions
D004482||Ectromelia, Infectious|Infectious Ectromelia|Mousepox|Mouse Pox
C566293|104510||Amelogenesis Imperfecta, Type IV|AI4|AIHHT|Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism
C563985|606719||Melanoma-Pancreatic Cancer Syndrome|Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome|FAMMMPC|FAMMMPC Syndrome
D017789||Granuloma, Pyogenic|Angiogranuloma|Angiogranulomas|Capillary Hemangioma, Lobular|Granuloma Pyogenicum|Granuloma Telangiecticum|Hemangioma, Lobular Capillary|Lobular Capillary Hemangioma|Pyogenic Granuloma
D016459||Prosthesis-Related Infections|Infections, Prosthesis-Related|Prosthesis-Related Infection|Prosthesis Related Infections
C531754||Ridges-off-the-end syndrome|Dermal Ridges-Off-The-End
C531755||Kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules
C563627|151210||Platyspondylic Lethal Skeletal Dysplasia, Torrance Type|Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type|Platyspondylic Chondrodysplasia, Torrance-Luton Type|Platyspondylic Lethal Skeletal Dysplasia, Luton Type|Platyspondylic Skeletal Dysplasia, Torrance Type|PLSDL, INCLUDED|PLSDT|PLSD-T|PLSD-TL|Thanatophoric Dysplasia, Luton Variant|THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED|Thanatophoric Dysplasia, Torrance Variant|THANATOPHORIC DYSPLASIA, TORRANCE VARIANT PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED
C535294||Reardon Hall Slaney syndrome
C535293||Reactive angioendotheliomatosis
C535296||Recombinant chromosome 8 syndrome|Rec(8) Syndrome|Recombinant 8 Syndrome|San Luis Valley recombinant chromosome 8 syndrome|San Luis Valley syndrome
C535295||Reardon Wilson Cavanagh syndrome|Ataxia-deafness-retardation syndrome|Ataxia, hearing loss, and mental retardation|Familial ataxia, deafness, and developmental delay
D017760||Bone Malalignment|Bone Malalignments|Bone Malposition|Bone Malpositions|Bone Misalignment|Bone Misalignments|Malalignment, Bone|Malposition, Bone|Misalignment, Bone
D003117||Color Vision Defects|Achromatopsia|Acquired Color Blindness|Blindness, Color|Blue Color Blindness|Color Blindness|Color Blindness, Acquired|Color Blindness, Blue|Color Blindness, Green|Color Blindness, Inherited|Color Blindness, Red|Color Blindness, Red Green|Color Blindness, Red-Green|Color Vision Defect|Color Vision Deficiency|Defect, Color Vision|Defect, Deutan|Defects, Color Vision|Deutan Defect|Green Color Blindness|Inherited Color Blindness|Monochromatopsia|Protan Defect|Red Color Blindness|Red-Green Color Blindness|Tritan Defect|Vision Defect, Color|Vision Defects, Color
C535298||Red cell phospholipid defect with hemolysis|High red cell phosphatidylcholine hemolytic anemia|Leaky Red cell syndrome|Phosphatidylcholine Red cell membrane disorder
C535297||Recurrent respiratory papillomatosis|Juvenile laryngeal papilloma|Juvenile-onset recurrent respiratory papillomatosis|Laryngeal papilloma, recurrent|Respiratory papillomatosis
C535299||Autoimmune progesterone dermatitis
D004445||Echinococcosis, Pulmonary|Cyst, Pulmonary Hydatid|Cysts, Pulmonary Hydatid|Echinococcoses, Pulmonary|Hydatid Cyst, Pulmonary|Hydatid Cysts, Pulmonary|Hydatidoses, Pulmonary|Hydatidosis, Pulmonary|Pulmonary Echinococcoses|Pulmonary Echinococcosis|Pulmonary Hydatid Cyst|Pulmonary Hydatid Cysts|Pulmonary Hydatidoses|Pulmonary Hydatidosis
D004444||Echinococcosis, Hepatic|Alveolar Echinococcis, Hepatic|Alveolar Echinococcoses, Hepatic|Alveolar Echinococcosis, Hepatic|Cyst, Hepatic Hydatid|Cysts, Hepatic Hydatid|Echinococcis, Hepatic Alveolar|Echinococcoses, Hepatic|Echinococcoses, Hepatic Alveolar|Echinococcosis, Hepatic Alveolar|Hepatic Alveolar Echinococcis|Hepatic Alveolar Echinococcoses|Hepatic Alveolar Echinococcosis|Hepatic Echinococcoses|Hepatic Echinococcosis|Hepatic Hydatid Cyst|Hepatic Hydatid Cysts|Hepatic Hydatidoses|Hepatic Hydatidosis|Hydatid Cyst, Hepatic|Hydatid Cysts, Hepatic|Hydatidoses, Hepatic|Hydatidosis, Hepatic
C535290||Rasmussen Johnsen Thomsen syndrome|Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance
D003110||Colonic Neoplasms|Cancer, Colon|Cancer, Colonic|Cancer of Colon|Cancer of the Colon|Cancers, Colon|Cancers, Colonic|Colon Cancer|Colon Cancers|Colonic Cancer|Colonic Cancers|Colonic Neoplasm|Colon Neoplasm|Colon Neoplasms|Neoplasm, Colon|Neoplasm, Colonic|Neoplasms, Colon|Neoplasms, Colonic
D004443||Echinococcosis|Cyst, Hydatid|Cysts, Hydatid|Echinococcoses|Hydatid Cyst|Hydatid Cysts|Hydatidoses|Hydatidosis
D003111||Colonic Polyps|Colonic Polyp|Polyp, Colonic|Polyps, Colonic
C535292||Ray Peterson Scott syndrome|Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities|Pelvic hypoplasia, and arthrogrypotic changes in the lower limbs
D003112||Colonic Pseudo-Obstruction|Colonic Pseudoobstruction|Colonic Pseudo Obstruction|Ogilvie Disease|Ogilvie&apos;s Syndrome|Ogilvie Syndrome|Pseudoobstruction, Colonic|Pseudo-Obstruction, Colonic|Syndrome, Ogilvie
C535291||Rasmussen subacute encephalitis|Subacute focal encephalitis of Rasmussen
D058345||Asymptomatic Infections|Asymptomatic Infection|Infection, Asymptomatic|Infections, Asymptomatic|Infections, Subclinical|Infection, Subclinical|Subclinical Infection|Subclinical Infections
241600|C565476||Hypoproteinemia, Hypercatabolic
612514|C567288||Specific Language Impairment 4|SLI4
602081||SPEECH-LANGUAGE DISORDER 1|CAS|CHILDHOOD APRAXIA OF SPEECH|DEVELOPMENTAL VERBAL DYSPRAXIA|DVD|SPCH1|SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA
C536816|605820||Distal myopathy, Nonaka type|Distal Myopathy with Rimmed Vacuoles|DMRV|Hereditary Inclusion Body Myopathy|Ibm2|Inclusion Body Myopathy 2|Myopathy, distal, with rimmed vacuoles|NM|Nonaka distal myopathy|Nonaka Myopathy|Rimmed Vacuole Myopathy
D017759||Fractures, Malunited|Crossunited Fracture|Crossunited Fractures|Fracture, Abnormal Union|Fracture, Crossunited|Fracture, Malunited|Fractures, Abnormal Union|Fractures, Crossunited|Malunited Fracture|Malunited Fractures
C565561|229300||Friedreich Ataxia 1|FA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED|FARR, INCLUDED|FRDA|Frda1
275220|C535563||Absence of Tibia|Bilateral absence of the tibia|THM|Tibia, absence of|Tibial hemimelia
D003128||Coma|Comas|Comatose|Pseudocoma|Pseudocomas
C537279|609460||Goldberg-Shprintzen megacolon syndrome|Goldberg-Shprintzen syndrome|GOSHS
C536029|303350||MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome|Adducted thumb with mental retardation|Clasped thumb and mental retardation|Crash syndrome|Gareis-Mason syndrome|Genetic Diseases, X-Linkeds|L1 Syndrome|Masa Syndrome|Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)|Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs|SPASTIC PARAPLEGIA 1, X-LINKED|Spastic paraplegia, type 1|Spg1|Thumb, congenital clasped, with mental retardation|X-Linked Complicated Hereditary Spastic Paraplegia Type 1|X-Linked Corpus Callosum Agenesis|X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (Hsas)
C536355|610629||Anemia, Diamond-Blackfan, 3|DBA3|Diamond-blackfan anemia 3
606159|C548080||Neuroferritinopathy|Basal Ganglia Disease, Adult-Onset|Ferritin-Related Neurodegeneration|Hereditary Ferritinopathy|NBIA3|Neurodegeneration With Brain Iron Accumulation 3|NEUROFERRITINOPATHY
D004457||Echovirus Infections|Echovirus Infection|Echo Virus Infection|Echo Virus Infections|Infection, Echovirus|Infection, Echo Virus|Infections, Echovirus|Infections, Echo Virus
D004451||Echinostomiasis|Echinostomiases
D003121||Colorado Tick Fever|Fever, Colorado Tick|Tick Fever, Colorado
D004454||Echolalia|Echophrasia|Echo Reaction|Echo Speech|Reaction, Echo|Reactions, Echo|Speech, Echo
612567|C567251||Inflammatory Bowel Disease 25, Autosomal Recessive|IBD25|INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE
D003123||Colorectal Neoplasms, Hereditary Nonpolyposis|Colon Cancer, Familial Nonpolyposis|Colorectal Cancer Hereditary Nonpolyposis|Familial Nonpolyposis Colon Cancer|Hereditary Nonpolyposis Colon Cancer|Hereditary Nonpolyposis Colorectal Cancer|Hereditary Nonpolyposis Colorectal Neoplasms|Lynch Cancer Family Syndrome I|Lynch Syndrome|Lynch Syndrome I|Syndrome, Lynch
D004461||Eclampsia|Eclampsias
D003130||Combat Disorders|Combat Disorder|Combat Neuroses|Combat Neurosis|Combat Stress Disorder|Combat Stress Disorders|Disorder, Combat|Disorder, Combat Stress|Disorders, Combat|Disorders, Combat Stress|Neuroses, Combat|Neuroses, War|Neurosis, Combat|Neurosis, War|Shell Shock|Shell Shocks|Shock, Shell|Shocks, Shell|Stress Disorder, Combat|Stress Disorders, Combat|War Neuroses|War Neurosis
D017769||Ulnar Nerve Compression Syndromes|Compression, Ulnar Nerve|Entrapments, Ulnar Nerve|Entrapment Syndrome, Ulnar Nerve|Entrapment, Ulnar Nerve|External Compression Syndrome, Ulnar Nerve|Guyon Syndrome|Guyon Syndromes|Nerve Compression, Ulnar|Nerve Entrapment, Ulnar|Syndrome, Guyon|Syndromes, Guyon|Ulnar Nerve Compression|Ulnar Nerve Compressions|Ulnar Nerve Entrapment|Ulnar Nerve Entrapment at the Wrist|Ulnar Nerve Entrapments|Ulnar Nerve Entrapment Syndrome|Ulnar Nerve External Compression Syndrome
D056732|170100||Prolidase Deficiency|Deficiencies, Imidodipeptidase|Deficiencies, Prolidase|Deficiency, Imidodipeptidase|Deficiency, Prolidase|Hyperimidodipeptiduria|Hyperimidodipeptidurias|Imidodipeptidase Deficiencies|Imidodipeptidase Deficiency|Prolidase Deficiencies
C535805|600110||Stargardt disease 3|Macular dystrophy, autosomal dominant, chromosome 6-linked,|Macular dystrophy with flecks, type 3|Stargardt-Like Macular Dystrophy, Autosomal Dominant|STGD3
611087|C567020||Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy|PMSE|PMSE SYNDROME
C562890||Alport Syndrome-Like Hereditary Nephritis
D005758||Gastritis, Hypertrophic|Disease, Menetrier|Disease, Menetrier&apos;s|Gastritis, Familial Giant Hypertrophic|Gastritis, Giant Hypertrophic|Giant Hypertrophic Gastritis|Hypertrophic Gastritis|Hypertrophic Gastritis, Giant|Menetrier Disease|Menetrier&apos;s Disease|Menetriers Disease
D004427||Ear Diseases|Disease, Ear|Disease, Otologic|Disease, Otological|Diseases, Ear|Diseases, Otologic|Diseases, Otological|Ear Disease|Otological Disease|Otological Diseases|Otologic Disease|Otologic Diseases
C562895||Pulmonic Stenosis and Congenital Nephrosis
D005757||Gastritis, Atrophic|Atrophic Gastritides|Atrophic Gastritis|Gastritides, Atrophic
D004426||Ear Deformities, Acquired|Acquired Ear Deformities|Acquired Ear Deformity|Deformities, Acquired Ear|Deformity, Acquired Ear|Ear Deformity, Acquired
D005759||Gastroenteritis|Gastroenteritides
D004428||Ear Neoplasms|Auricular Cancer|Auricular Cancers|Auricular Neoplasms|Cancer, Auricular|Cancer of Ear|Cancer of Ear Auricle|Cancer of the Ear|Cancers, Auricular|Ear Auricle Cancer|Ear Auricle Cancers|Ear Auricle Neoplasm|Ear Auricle Neoplasms|Ear Cancer|Ear Neoplasm|Neoplasm, Ear|Neoplasms, Auricular|Neoplasms, Ear|Neoplasms of Ear Auricle
C562894||Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
D004422||Dystonia Musculorum Deformans|Childhood Torsion Disease|Dystonia Deformans Musculorum|Dystonia Deformans Progressiva|Dystonia, Idiopathic Torsion|Dystonias, Idiopathic Torsion|Dystonias, Torsion|Idiopathic Torsion Dystonia|Idiopathic Torsion Dystonias|Oppenheim Ziehen Disease|Oppenheim-Ziehen Disease|Progressive Torsion Spasm|Spasm, Progressive Torsion|Torsion Disease, Childhood|Torsion Disease of Childhood|Torsion Dystonia|Torsion Dystonia, Idiopathic|Torsion Spasm, Progressive
D005756||Gastritis|Gastritides
C537607|222765||Rhizomelic chondrodysplasia punctata, type 2|Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency|Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency|DHAPAT deficiency|Dihydroxyacetonephosphate acyltransferase deficiency|Glyceronephosphate acyltransferase deficiency|Glyceronephosphate O-Acyltransferase Deficiency|GNPAT deficiency|Human dihydroxyacetonephosphate acyltransferase deficiency|Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|RCDP2|Type 2 rhizomelic chondrodysplasia punctata
D004420||Dystocia|Dystocias
612580|C567241||Mental Retardation, Autosomal Dominant 3|MRD3
300539|C564491||Nephrogenic Syndrome of Inappropriate Antidiuresis|NSIAD
256600||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A|INAD|INAD1|NBIA2A|NEUROAXONAL DYSTROPHY, INFANTILE|NEURODEGENERATION, PLA2G6-ASSOCIATED|PLAN|SEITELBERGER DISEASE
D058365||Candidiasis, Invasive|Candidiases, Invasive|Invasive Candidiases|Invasive Candidiasis
600631|D053206||Nocturnal Enuresis|Bedwetting|ENUR1|Enuresis, Nocturnal|ENURESIS, NOCTURNAL, 1|Incontinence, Nighttime Urinary|Nighttime Urinary Incontinence|Urinary Incontinence, Nighttime
D017733||Leukoplakia, Hairy|Hairy Leukoplakia|Hairy Leukoplakia, Oral|Hairy Leukoplakias|Hairy Leukoplakias, Oral|Leukoplakia, Hairy, Oral|Leukoplakia, Oral Hairy|Leukoplakias, Hairy|Leukoplakias, Oral Hairy|Oral Hairy Leukoplakia|Oral Hairy Leukoplakias
C537240|260540||Progressive supranuclear palsy atypical|Atypical PSP|Parkinson-Dementia Syndrome|Steele-Richardson-Olszewski Syndrome, Atypical|STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL, INCLUDED|Supranuclear Palsy, Progressive, 1, Atypical|SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL, INCLUDED|Supranuclear Palsy, Progressive Atypical
D016403||Lymphoma, Large B-Cell, Diffuse|Diffuse Histiocytic Lymphoma|Diffuse Histiocytic Lymphomas|Diffuse, Large B-Cell, Lymphoma|Diffuse Large Cell Lymphoma|Diffuse Large-Cell Lymphoma|Diffuse Large-Cell Lymphomas|Histiocytic Lymphoma|Histiocytic Lymphoma, Diffuse|Histiocytic Lymphomas|Histiocytic Lymphomas, Diffuse|Large Cell Lymphoma, Diffuse|Large-Cell Lymphoma, Diffuse|Large-Cell Lymphomas, Diffuse|Large Lymphoid Lymphoma, Diffuse|Lymphoma, Diffuse Histiocytic|Lymphoma, Diffuse Large Cell|Lymphoma, Diffuse Large-Cell|Lymphoma, Histiocytic|Lymphoma, Histiocytic, Diffuse|Lymphoma, Large Cell, Diffuse|Lymphoma, Large-Cell, Diffuse|Lymphoma, Large Lymphoid, Diffuse|Lymphomas, Diffuse Histiocytic|Lymphomas, Diffuse Large-Cell|Lymphomas, Histiocytic
107200|C535983||Congenital anosmia|ANIC|Anosmia, Congenital|Anosmia, Isolated Congenital|Isolated congenital anosmia
D017731||Lymphomatoid Papulosis|Lymphomatoid Papuloses|Papuloses, Lymphomatoid|Papulosis, Lymphomatoid
D016400||Lymphoma, Large-Cell, Immunoblastic|Diffuse Immunoblastic Lymphosarcoma|Diffuse Immunoblastic Lymphosarcomas|Immunoblastic Large Cell Lymphoma|Immunoblastic Large-Cell Lymphoma|Immunoblastic Large-Cell Lymphomas|Immunoblastic Lymphoma, Large-Cell|Immunoblastic Lymphomas, Large-Cell|Immunoblastic Lymphosarcoma, Diffuse|Immunoblastic Lymphosarcomas, Diffuse|Immunoblastic Sarcoma|Immunoblastic Sarcomas|Immunoblastoma|Immunoblastomas|Large Cell Immunoblastic Lymphoma|Large-Cell Immunoblastic Lymphoma|Large-Cell Immunoblastic Lymphomas|Large-Cell Lymphoma, Immunoblastic|Large-Cell Lymphomas, Immunoblastic|Lymphoma, Immunoblastic Large-Cell|Lymphoma, Immunoblastic, Large Cell|Lymphoma, Immunoblastic, Large-Cell|Lymphoma, Large Cell, Immunoblastic|Lymphoma, Large-Cell Immunoblastic|Lymphomas, Immunoblastic Large-Cell|Lymphomas, Large-Cell Immunoblastic|Lymphosarcoma, Diffuse Immunoblastic|Lymphosarcomas, Diffuse Immunoblastic|Sarcoma, Immunoblastic|Sarcomas, Immunoblastic
C531700||Diarrhea prodrome + Hemolytic-Uremic Syndrome|Diarrhea prodrome + HUS
D050031|140300||Hashimoto Disease|Chronic Lymphocytic Thyroiditides|Chronic Lymphocytic Thyroiditis|Disease, Hashimoto|Disease, Hashimoto&apos;s|Hashimoto&apos;s Disease|Hashimotos Disease|Hashimoto&apos;s Struma|Hashimoto&apos;s Syndrome|Hashimotos Syndrome|Hashimoto&apos;s Syndromes|Hashimoto Struma|Hashimoto Syndrome|Hashimoto Thyroiditides|Hashimoto Thyroiditis|HT|HYPOTHYROIDISM, AUTOIMMUNE THYROID AUTOANTIBODIES, INCLUDED|Lymphocytic Thyroiditides, Chronic|Lymphocytic Thyroiditis, Chronic|Syndrome, Hashimoto&apos;s|Syndromes, Hashimoto&apos;s|Thyroiditides, Chronic Lymphocytic|Thyroiditides, Hashimoto|Thyroiditis, Chronic Lymphocytic|Thyroiditis, Hashimoto
C535521|603786||Stargardt disease 4|STGD4
D004438||Ecchymosis|Ecchymoses
C564684|606662||Waardenburg Syndrome, Type 2C|Waardenburg Syndrome, Type IIC|WS2C
D003108||Colonic Diseases|Colonic Disease|Disease, Colonic|Diseases, Colonic
D003109||Colonic Diseases, Functional|Colonic Disease, Functional|Disease, Functional Colonic|Diseases, Functional Colonic|Functional Colonic Disease|Functional Colonic Diseases
D004433||Earache|Earaches|Otalgia|Otalgias
D005767||Gastrointestinal Diseases|Cholera Infantum|Disease, Gastrointestinal|Diseases, Gastrointestinal|Disorder, Functional Gastrointestinal|Disorders, Functional Gastrointestinal|Functional Gastrointestinal Disorder|Functional Gastrointestinal Disorders|Gastrointestinal Disease|Gastrointestinal Disorder, Functional|Gastrointestinal Disorders, Functional|Infantum, Cholera
D005761||Gastroenteritis, Transmissible, of Swine|Gastroenteritides, Porcine Transmissible|Gastroenteritides, Swine Transmissible|Gastroenteritides, Transmissible Porcine|Gastroenteritis, Porcine Transmissible|Gastroenteritis, Swine Transmissible|Gastroenteritis, Transmissible Porcine|Gastroenteritis, Transmissible, Porcine|Porcine Gastroenteritides, Transmissible|Porcine Gastroenteritis, Transmissible|Porcine Transmissible Gastroenteritides|Porcine Transmissible Gastroenteritis|Swine Transmissible Gastroenteritides|Swine Transmissible Gastroenteritis|Transmissible Gastroenteritides, Porcine|Transmissible Gastroenteritides, Swine|Transmissible Gastroenteritis of Swine|Transmissible Gastroenteritis, Porcine|Transmissible Gastroenteritis, Swine|Transmissible Porcine Gastroenteritides|Transmissible Porcine Gastroenteritis
D003100||Colles&apos; Fracture|Colles Fracture|Fracture, Colles&apos;
D005770||Gastrointestinal Neoplasms|Cancer, Gastrointestinal|Cancer of Gastrointestinal Tract|Cancer of the Gastrointestinal Tract|Cancers, Gastrointestinal|Gastrointestinal Cancer|Gastrointestinal Cancers|Gastrointestinal Neoplasm|Gastrointestinal Tract Cancer|Gastrointestinal Tract Cancers|Neoplasm, Gastrointestinal|Neoplasms, Gastrointestinal
D057049||Thrombotic Microangiopathies|Microangiopathies, Thrombotic|Microangiopathy, Thrombotic|Thrombotic Microangiopathy
C531716||Incontinentia pigmenti, familial male-lethal type
D057045||Laryngopharyngeal Reflux|Gastric Reflux, Supraesophageal|Gastric Regurgitation|Reflux, Laryngopharyngeal|Reflux, Supraesophageal Gastric|Regurgitation, Gastric|Supraesophageal Gastric Reflux
C531719||Keratitis sicca
C567515|611818||Long Qt Syndrome 9|Long Qt Syndrome 2/9|LONG QT SYNDROME 2/9, DIGENIC, INCLUDED;LQT2/9, DIGENIC, INCLUDED|LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT9
D016410||Lymphoma, T-Cell, Cutaneous|Cutaneous T Cell Lymphoma|Cutaneous T-Cell Lymphoma|Cutaneous T-Cell Lymphomas|Granulomatous Slack Skin|Lymphoma, Cutaneous T-Cell|Lymphomas, Cutaneous T-Cell|Lymphoma, T Cell, Cutaneous|Slack Skin, Granulomatous|T Cell Lymphoma, Cutaneous|T-Cell Lymphoma, Cutaneous|T-Cell Lymphomas, Cutaneous
D016411||Lymphoma, T-Cell, Peripheral|Lymphoma, Peripheral T-Cell|Lymphomas, Peripheral T-Cell|Lymphoma, T Cell, Peripheral|Peripheral T Cell Lymphoma|Peripheral T-Cell Lymphoma|Peripheral T-Cell Lymphomas|T Cell Lymphoma, Peripheral|T-Cell Lymphoma, Peripheral|T-Cell Lymphomas, Peripheral
C535371||Trisomy 20p|Chromosome 20, duplication 20p|Duplication 20p
C535370||Chromosome 20, deletion 20p|Deletion 20p|Monosomy 20p
C535373||Dermatoosteolysis Kirghizian type|Dermatoosteolysis, Kirghizian Type|Kirghizian Dermatoosteolysis
C535372||Chromosome 20, trisomy|Chromosome 20 duplication|Trisomy 20|Trisomy 20 mosaicism
C535375||Dermochondrocorneal dystrophy of Fran&#231;ois|Dermochondrocorneal dystrophy|Francois syndrome
C562995||Hexokinase Deficiency Hemolytic Anemia
C562992||Pulmonary Hypoplasia, Primary
C562993||Book Syndrome|PHC Syndrome
607361|C536132||Meckel syndrome type 3|Meckel-Gruber Syndrome, Type 3|Meckel Syndrome, Type 3|MKS3
183086||SPINOCEREBELLAR ATAXIA 6|SCA6
C562998||Telangiectasia, Generalized Essential
C536710|221750||Winkelman Bethge Pfeiffer syndrome|CPHD3|Deafness, Sensorineural, With Pituitary Dwarfism|Pituitary Hormone Deficiency, Combined, 3|Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine|Sensorineural deafness with Pituitary dwarfism
C562999||Hypercalcemia, Infantile
609470||LEFT VENTRICULAR NONCOMPACTION 2|LVNC2
143860||HYPERCHLORHIDROSIS, ISOLATED
D058267||Flea Infestations|Flea Infestation|Infestation, Flea|Infestations, Flea
183090||SPINOCEREBELLAR ATAXIA 2|SCA2 SPINOCEREBELLAR ATROPHY II|OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE|OLIVOPONTOCEREBELLAR ATROPHY II|OPCA2|SPINOCEREBELLAR ATAXIA, CUBAN TYPE|CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS|WADIA-SWAMI SYNDROME|SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS|SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED|ALS13, INCLUDED
D060586||Trichosporonosis|Disseminated Trichosporonoses|Disseminated Trichosporonosis|Invasive Trichosporonoses|Invasive Trichosporonosis|Japanese Summer Type Hypersensitivity Pneumonitis|Japanese Summer-Type Hypersensitivity Pneumonitis|Pneumonitides, Summer-Type Hypersensitivity|Pneumonitis, Summer-Type Hypersensitivity|Summer-Type Hypersensitivity Pneumonitides|Summer Type Hypersensitivity Pneumonitis|Summer-Type Hypersensitivity Pneumonitis|Trichosporonoses|Trichosporonoses, Disseminated|Trichosporonoses, Invasive|Trichosporonosis, Disseminated|Trichosporonosis, Invasive
D060585||Fusariosis|Disseminated Fusarioses|Disseminated Fusariosis|Fusarioses|Fusarioses, Disseminated|Fusarioses, Invasive|Fusarioses, Invasive Pulmonary|Fusarioses, Pulmonary|Fusariosis, Disseminated|Fusariosis, Invasive|Fusariosis, Invasive Pulmonary|Fusariosis, Pulmonary|Fusarium Infection|Fusarium Infections|Infection, Fusarium|Infections, Fusarium|Invasive Fusarioses|Invasive Fusariosis|Invasive Pulmonary Fusarioses|Invasive Pulmonary Fusariosis|Pulmonary Fusarioses|Pulmonary Fusariosis
610460||THIOPURINE S-METHYLTRANSFERASE DEFICIENCY|THIOPURINES, POOR METABOLISM OF|TPMT DEFICIENCY
106300|D013167||Spondylitis, Ankylosing|Ankylosing Spondylarthritides|Ankylosing Spondylarthritis|Ankylosing Spondylitis|ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO|Ankylosing Spondyloarthritides|Ankylosing Spondyloarthritis|Bechterew Disease|Bechterew&apos;s Disease|Bechterews Disease|BECHTEREW SYNDROME|Marie Struempell Disease|Marie-Struempell Disease|MARIE-STRUMPELL SPONDYLITIS|Rheumatoid Spondylitis|SPDA1|Spondylarthritides, Ankylosing|Spondylarthritis Ankylopoietica|Spondylarthritis, Ankylosing|Spondylitis Ankylopoietica|Spondylitis, Rheumatoid|Spondyloarthritides, Ankylosing|Spondyloarthritis Ankylopoietica|Spondyloarthritis, Ankylosing|SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1
C535368||Chromosome 2, trisomy 2q37|Duplication 2q37|Trisomy 2q37
C535367||Chromosome 2, trisomy 2q|Duplication 2q|Trisomy 2q
C536699||Whistling face syndrome, recessive form
C535369||Chromosome 20 ring
D046290||Liver Abscess, Pyogenic|Abscesses, Pyogenic Hepatic|Abscesses, Pyogenic Liver|Abscess, Pyogenic Hepatic|Abscess, Pyogenic Liver|Hepatic Abscesses, Pyogenic|Hepatic Abscess, Pyogenic|Liver Abscesses, Pyogenic|Pyogenic Hepatic Abscess|Pyogenic Hepatic Abscesses|Pyogenic Liver Abscess|Pyogenic Liver Abscesses
C535381||Arthrogryposis multiplex with deafness, inguinal hernias, and early death
C535384||Arthrogryposis, distal, type 2E|Contractures of fingers and jaw
C535386||Arthrogryposis-like hand anomaly and sensorineural deafness|Arthrogryposis, distal, type 6|Familial hand abnormality and sensori-neural deafness
C535385||Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
C536046|610967||Osteogenesis imperfecta, type 5|OI5|OI, TYPE V|OSTEOGENESIS IMPERFECTA, TYPE V
D005862||Gerstmann Syndrome|Acquired Gerstmann&apos;s Syndrome|Acquired Gerstmann Syndrome|de Gerstmann, Syndrome|Developmental Gerstmann&apos;s Syndrome|Developmental Gerstmanns Syndrome|Developmental Gerstmann Syndrome|Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphia|Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphias|Gerstmann Badal Syndrome|Gerstmann-Badal Syndrome|Gerstmann&apos;s Syndrome|Gerstmann&apos;s Syndrome, Acquired|Gerstmann&apos;s Syndrome, Developmental|Gerstmann Syndrome 2|Gerstmann Syndrome, Acquired|Gerstmann, Syndrome de|Gerstmann Syndrome, Developmental|Syndrome, Acquired Gerstmann|Syndrome, Acquired Gerstmann&apos;s|Syndrome de Gerstmann|Syndrome, Developmental Gerstmann|Syndrome, Gerstmann|Syndrome, Gerstmann-Badal
C535379||Arthrogryposis multiplex congenita, distal type 2|Congenital contractures with major involvement of the hands and feet|Distal arthrogryposis, type 2
270960||SPERMATOGENIC FAILURE 4|AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS|AZOOSPERMIA WITH MATURATION ARREST|RPRGL4|SPERMATOGENESIS ARREST PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 4|SPGF4
D016511||Severe Combined Immunodeficiency|Bare Lymphocyte Syndrome|Bare Lymphocyte Syndromes|Combined Immunodeficiencies, Severe|Combined Immunodeficiency, Severe|Familial Reticuloendothelioses|Familial Reticuloendotheliosis|Immunodeficiencies, Severe Combined|Immunodeficiency, Severe Combined|Immunodeficiency Syndrome, Severe Combined|Immunologic Deficiency, Severe Combined|Lymphocyte Syndrome, Bare|Lymphocyte Syndromes, Bare|Omenn&apos;s Syndrome|Omenns Syndrome|Omenn Syndrome|Reticuloendothelioses, Familial|Reticuloendotheliosis, Familial|Severe Combined Immunodeficiencies|Severe Combined Immunodeficiency Syndrome|Severe Combined Immunologic Deficiency|Syndrome, Bare Lymphocyte|Syndrome, Omenn|Syndrome, Omenn&apos;s|Syndromes, Bare Lymphocyte
C537989|600882||Charcot-Marie-Tooth disease, Type 2B|Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B|Charcot-Marie-Tooth disease, axonal, Type 2B|Charcot-Marie-Tooth disease, neuronal, Type 2B|Charcot-Marie-Tooth Neuropathy, Type 2B|CMT2B|CMT 2B|Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|Hereditary Motor And Sensory Neuropathy IIB|HMSN2B|HMSN IIB|Peripheral sensory neuropathy, autosomal dominant (PSN)
C535378||Arthrogryposis multiplex congenita, distal type 1|AMCD1|Arthrogryposis, distal, type 1|Arthrogryposis Multiplex Congenita, Distal, Type I|Distal arthrogryposis, type 1|Distal Arthrogryposis Type 1
D016512||Ankle Injuries|Ankle Injury|Ankle Sprain|Ankle Sprains|Injuries, Ankle|Injuries, Syndesmotic|Injury, Ankle|Injury, Syndesmotic|Sprain, Ankle|Sprains, Ankle|Syndesmotic Injuries|Syndesmotic Injury
D016510||Corneal Neovascularization|Angiogenesis, Corneal|Corneal Angiogenesis|Corneal Neovascularizations|Neovascularization, Corneal|Neovascularizations, Corneal
C535392||Astley-Kendall syndrome|Astley-Kendall dysplasia|Short limbed dwarfism with extensive stippling
C563471|600593||Craniosynostosis, Adelaide Type|CRSA
D005834||Genital Neoplasms, Male|Genital Neoplasm, Male|Male Genital Neoplasm|Male Genital Neoplasms|Neoplasm, Male Genital|Neoplasms, Male Genital
C562973||Dysosteosclerosis
C535399||Charcot-Marie-Tooth disease, dominant intermediate 1
D005831||Genital Diseases, Female|Diseases, Female Genital|Diseases, Gynecologic|Female Genital Disease|Female Genital Diseases|Genital Disease, Female|Gynecologic Disease|Gynecologic Diseases
D005833||Genital Neoplasms, Female|Female Genital Neoplasm|Female Genital Neoplasms|Genital Neoplasm, Female|Gynecologic Neoplasm|Gynecologic Neoplasms|Neoplasm, Female Genital|Neoplasm, Gynecologic|Neoplasms, Female Genital|Neoplasms, Gynecologic
C562974||Craniofacial Dysostosis with Diaphyseal Hyperplasia|Osteosclerosis, Stanescu Type
608404|C564245||Platelet Glycoprotein IV Deficiency|BDPLT10|BLEEDING DISORDER, PLATELET-TYPE, 10|CD36 Deficiency
D005832||Genital Diseases, Male|Disease, Male Genital|Diseases, Male Genital|Genital Disease, Male|Male Genital Disease|Male Genital Diseases
143890||HYPERCHOLESTEROLEMIA, FAMILIAL|FH|FHC|HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL|HYPERLIPOPROTEINEMIA, TYPE II|HYPERLIPOPROTEINEMIA, TYPE IIA|HYPER-LOW-DENSITY-LIPOPROTEINEMIA|LDLCQ2, INCLUDED|LDL RECEPTOR DISORDER LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED
C562978||Fibromatosis, Congenital Generalized|Myofibromatosis, Infantile
C535391||Asrar Facharzt Haque syndrome
C535390||Aspergillus niger infection|Aspergillus niger infection, pulmonary
D058285||Tungiasis
D058288||Sister Mary Joseph&apos;s Nodule|Nodule, Sister Joseph&apos;s|Nodules, Sister Joseph&apos;s|Sister Joseph Nodule|Sister Joseph&apos;s Nodule|Sister Josephs Nodule|Sister Joseph&apos;s Nodules
255310||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION|CFTD|CFTDM|FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL
609452||MYOPATHY, MYOFIBRILLAR, 4|MFM4
C535337|610019||Cataract, autosomal recessive congenital 2|CATARACT 18|CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2|CATC2|CTRCT18
188030|D016553||Purpura, Thrombocytopenic, Idiopathic|AITP|Autoimmune Thrombocytopenia|Autoimmune Thrombocytopenias|Autoimmune Thrombocytopenic Purpura|Autoimmune Thrombocytopenic Purpuras|Disease, Werlhof|Disease, Werlhof&apos;s|Idiopathic Thrombocytopenic Purpura|Idiopathic Thrombocytopenic Purpuras|Immune Thrombocytopenic Purpura|ITP|Purpura, Autoimmune Thrombocytopenic|Purpura, Idiopathic Thrombocytopenic|Purpuras, Autoimmune Thrombocytopenic|Purpuras, Idiopathic Thrombocytopenic|Purpura, Thrombocytopenic, Autoimmune|Thrombocytopenia, Autoimmune|Thrombocytopenias, Autoimmune|Thrombocytopenic Purpura, Autoimmune|Thrombocytopenic Purpura, Idiopathic|Thrombocytopenic Purpuras, Idiopathic|Werlhof Disease|Werlhof&apos;s Disease|Werlhofs Disease
C537136|258900||Oroticaciduria 1|OAWA, INCLUDED|OPRT AND ODC DEFICIENCY|Orotate phosphoribosyltransferase and omp decarboxylase deficiency|OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY|OROTIC ACIDURIA|OROTIC ACIDURIA I|Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA, INCLUDED|UMP SYNTHASE DEFICIENCY|Uridine monophosphate synthase deficiency|Uridine monophosphate synthetase deficiency
D000361|613500||Agammaglobulinemia|AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT|AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT|Agammaglobulinemias|AGM2|AGM3|AGM5|Hypogammaglobulinemia|Hypogammaglobulinemias
C535748|608093||Congenital disorder of glycosylation type 1J|CDG1J|CDGIj|CDG Ij|Congenital Disorder of Glycosylation, Type IJ
D005489|305600||Focal Dermal Hypoplasia|Dermal Hypoplasia, Focal|Dermal Hypoplasias, Focal|DHOF|FDH|Focal Dermal Hypoplasias|FODH|Goltz Gorlin Syndrome|Goltz-Gorlin Syndrome|Goltz&apos;s Syndrome|Goltzs Syndrome|Goltz Syndrome|Gorlin Syndrome, Goltz|Hypoplasia, Focal Dermal|Hypoplasias, Focal Dermal|Syndrome, Goltz|Syndrome, Goltz Gorlin|Syndrome, Goltz-Gorlin|Syndrome, Goltz&apos;s
231100|C536394||Neonatal hemochromatosis|Alloimmune Hepatitis, Congenital|GIANT CELL HEPATITIS, FORMERLY|Hemochromatosis, Neonatal|Idiopathic Neonatal Hemochromatosis|NEONATAL HEPATITIS, FORMERLY|NH|NHC
D005847||Geotrichosis|Geotrichoses
C562988||Pseudomonilethrix
610427||NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B|CSNB2B|CSNB, INCOMPLETE, AUTOSOMAL RECESSIVE|NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE
217095||CONOTRUNCAL HEART MALFORMATIONS|CAFS, INCLUDED|CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED|CTHM|DORV, INCLUDED|DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED|INTERRUPTED AORTIC ARCH, INCLUDED|PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED|PTA, INCLUDED|TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED
610425||CATARACT 23|CATARACT 23, LAMELLAR|CTRCT23
C562989||Amastia|Amazia
C535687|268300||Roberts Syndrome|Appelt-Gerken-Lenz Syndrome|Hypomelia Hypotrichosis Facial Hemangioma Syndrome|Long bone deficiencies associated with cleft lip-palate|Pseudothalidomide Syndrome|RBS|Roberts-Sc Phocomelia Syndrome|Sc Phocomelia Syndrome|Sc Pseudothalidomide Syndrome|Sc Syndrome|Tetraphocomelia-Cleft Palate Syndrome
181600|C537526||Sclerotylosis|HRZ|Huriez syndrome|Scleroatrophic and keratotic dermatosis of limbs|TYS
179450|C566725||Ragweed Sensitivity
C565128|124000||Mitochondrial Complex III Deficiency|MC3DN1|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
C535780|272460||Spondylocarpotarsal synostosis|Congenital Scoliosis with Unilateral Unsegmented Bar|Congenital Synspondylism|Scoliosis, congenital, with unilateral unsegmented bar|SCT|SCT Syndrome|Spondylocarpotarsal Syndrome|Spondylocarpotarsal synostosis syndrome|Synspondylism, congenital|Vertebral fusion with carpal coalition
D021081||Chronobiology Disorders|Biological Clock Disturbance|Biological Clock Disturbances|Chronobiology Disorder|Circadian Dysregulation|Circadian Rhythm Disorder|Circadian Rhythm Disorders|Disturbance, Biological Clock|Disturbances, Biological Clock|Dysregulation, Circadian|Inversion of Circadian Rhythm, Psychogenic|Psychogenic Inversion of Circadian Rhythm
221770|C536329||Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|Brain-bone-fat disease|Dementia, prefrontal, with bone cysts|Dementia, progressive, with lipomembranous polycystic osteodysplasia|Nasu-Hakola disease|NHD|Plo-Sl|PLOSL|Presenile dementia with bone cysts
D017823||Furcation Defects|Defect, Furcation|Defects, Furcation|Furcation Defect
217090|C566897||Plasminogen Deficiency, Type I|Dysplasminogenemia|DYSPLASMINOGENEMIA, INCLUDED|Ligneous Conjunctivitis|LIGNEOUS CONJUNCTIVITIS, INCLUDED
C536660||Perniola Krajewska Carnevale syndrome|Congenital alopecia, psychomotor retardation, convulsions|Neuroectodermosis with alopecia or hypotrichosis
D054705||Mastocytoma, Skin|Skin Mastocytoma|Solitary Mastocytoma of Skin
C562950||Cleft Soft Palate
C537995||Dysferlinopathy
C562951||Trigonocephaly, Nonsyndromic|Craniosynostosis, Metopic
C537992||Charcot-Marie-Tooth disease, Type 2C|Charcot-Marie-Tooth disease, axonal, Type 2C|Hereditary motor and sensory neuropathy 2 C
C564577|607398||Glucocorticoid Deficiency 2|Familial Glucocorticoid Deficiency 2|FGD2|GCCD2
220400|D029593||Jervell-Lange Nielsen Syndrome|Cardio-Auditory-Syncope Syndrome|Cardioauditory Syndrome of Jervell and Lange Nielsen|Cardioauditory Syndrome of Jervell and Lange-Nielsen|Deafness, Congenital, and Functional Heart Disease|Jervell and Lange Nielsen Syndrome|Jervell and Lange-Nielsen Syndrome|Jervell And Lange-Nielsen Syndrome 1|Jervell Lange Nielsen Syndrome|JLNS1|Prolonged QT Interval in EKG and Sudden Death|Surdo Cardiac Syndrome|Surdo-Cardiac Syndrome|Surdo-Cardiac Syndromes|Syndrome, Jervell-Lange Nielsen|Syndrome, Surdo-Cardiac
C535332||Aase Smith syndrome|Aase-Smith Syndrome I|Hydrocephalus cleft palate joint contractures|Joint contractures with other abnormalities
C563755|609265||Li-Fraumeni Syndrome 2|LFS2
D034381||Hearing Loss|Hearing Impairment|Hypoacuses|Hypoacusis|Loss, Hearing
C562952||Cervical Vertebrae, Agenesis Of
C562958||Spondyloepimetaphyseal Dysplasia, Irapa Type|SEMDIT
C566384|603373||Hyperthyroidism, Familial Gestational
C536656||Peptide growth factors deficiency|Hoepffner dreyer reimers syndrome|Peptidic growth factors deficiency
C537988||Charcot-Marie-Tooth disease, Type 2A|Charcot-Marie-Tooth disease, axonal, Type 2A|Charcot-Marie-Tooth disease, neuronal, Type 2A|Hereditary motor and sensory neuropathy 2 A|HMSN IIA
607841|C564322||Deafness, Autosomal Dominant 48|DFNA48
C537986||Charcot-Marie-Tooth disease, Type 1E
C535327||Holzgreve Wagner Rehder syndrome|Complex congenital heart defect, renal agenesis, and cleft lip and palate|Holzgreve syndrome
C535329||Hooft disease
C536670||Skeletal dysplasia, San Diego type
C536671||Sketetal dysplasia coarse facies mental retardation|Spondyloepimetaphyseal dysplasia X-linked with mental deterioration|Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration
C535340||Cataract, posterior polar, 5
C562961||Chondrodysplasia Punctata, Tibia-Metacarpal Type
218600|C536788||Craniosynostosis radial aplasia syndrome|Baller-Gerold syndrome|BGS|Craniosynostosis-Radial Aplasia Syndrome|Craniosynostosis with radial defects
C536672||Slavotinek Pike Mills Hurst syndrome
C536673||Slti Salem syndrome|Hypogonadism and frontoparietal alopecia|Hypogonadotropic hypogonadism alopecia
276600|D020176||Tyrosinemias|2 Tyrosinemias, Type|2 Tyrosinemia, Type|4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease|4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease|4-Hydroxyphenylpyruvate Dioxygenase Deficiency|4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease|4-Hydroxyphenylpyruvic Acid Oxidase Deficiency|Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase|Deficiencies, Fumarylacetoacetase|Deficiencies, Tat|Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase|Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase|Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase|Deficiency Disease, Fumarylacetoacetase|Deficiency Diseases, Fumarylacetoacetase|Deficiency Disease, Tyrosine Transaminase|Deficiency, Fumarylacetoacetase|Deficiency, Tat|Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate|Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate|Disease, Fumarylacetoacetase Deficiency|Diseases, Fumarylacetoacetase Deficiency|FAH DEFICIENCY|Fumarylacetoacetase Deficiencies|Fumarylacetoacetase Deficiency|Fumarylacetoacetase Deficiency Disease|Fumarylacetoacetase Deficiency Diseases|Hepatorenal Tyrosinemia|Hepatorenal Tyrosinemias|Hereditary Tyrosinemia|Hereditary Tyrosinemias|Hereditary Tyrosinemia, Type I|Hereditary Tyrosinemia, Type II|Hereditary Tyrosinemia, Type III|Hypertyrosinemia|Hypertyrosinemias, Type I|Hypertyrosinemia, Type I|Keratosis Palmoplantaris with Corneal Dystrophy|Oculocutaneous Type Tyrosinoses|Oculocutaneous Type Tyrosinosis|Oregon Type Tyrosinemia|Richner Hanhart Syndrome|Richner-Hanhart Syndrome|Richner-Hanhart Syndromes|Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type|Syndrome, Richner-Hanhart|Syndromes, Richner-Hanhart|Tat Deficiencies|Tat Deficiency|Type 2 Tyrosinemia|Type 2 Tyrosinemias|Type I Hypertyrosinemia|Type I Hypertyrosinemias|Type III Tyrosinemia|Type III Tyrosinemias|Type II Tyrosinemia|Type II Tyrosinemias|Type I Tyrosinemia|Type I Tyrosinemias|Type Tyrosinoses, Oculocutaneous|Type Tyrosinosis, Oculocutaneous|Tyrosine Aminotransferase Deficiency|Tyrosinemia|Tyrosinemia, Hepatorenal|Tyrosinemia, Hereditary|Tyrosinemias, Hepatorenal|Tyrosinemias, Hereditary|Tyrosinemias, Type 2|Tyrosinemias, Type I|Tyrosinemias, Type II|Tyrosinemias, Type III|Tyrosinemia Type 1|Tyrosinemia Type 1s|Tyrosinemia, Type 2|Tyrosinemia, Type I|Tyrosinemia, Type II|Tyrosinemia, Type III|Tyrosine Transaminase Deficiency|Tyrosine Transaminase Deficiency Disease|Tyrosinoses, Oculocutaneous Type|Tyrosinosis, Oculocutaneous Type|TYRSN1|TYRSN2|TYRSN3
C562968||Spondyloepimetaphyseal Dysplasia With Joint Laxity|SEMDJL
C535325|261640||6-pyruvoyl-tetrahydropterin synthase deficiency|6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY|HPABH4A|HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A|Hyperphenylalaninemia, BH4-Deficient, Type A|Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To PTS Deficiency|PTS Deficiency|PTS DEFICIENCY HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED
210720|C565898||Microcephalic Osteodysplastic Primordial Dwarfism, Type II|Majewski Osteodysplastic Primordial Dwarfism Type II|Microcephalic osteodysplastic primordial dwarfism, type 2|Microcephalic Osteodysplastic Primordial Dwarfism Type II|Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities|Mopd2|MopdII|MOPD II|Osteodysplastic primordial dwarfism, type 2|Osteodysplastic Primordial Dwarfism Type Ii|Osteodysplastic Primordial Dwarfism, Type II
C535335||Abderhalden-Kaufmann-Lignac syndrome|Abderhalden Kaufmann Lignac syndrome|Abderhalden-Lignac-Kaufmann disease
C537999||Dyssegmental dysplasia, Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism, Rolland-Desbuquois type|Dyssegmental dwarfism, Rolland-Desbuquois type
C536668||Sjogren-Larsson-like syndrome|Ichthyosis, Sjogren-Larsson-Like, Without CNS Or Eye Involvement|Sjogren-Larsson-like ichthyosis without CNS or eye involvement
C537997||Dysplasia epiphysealis hemimelica|Trevor disease
C536666||Situs inversus totalis with cystic dysplasia of kidneys and pancreas
C535336||Cataract, alopecia, sclerodactyly|Cataract, alopecia, sclerodactyly syndrome|Cataract-Alopecia-Sclerodactyly Syndrome
C535339||Cataract, posterior polar, 1|Posterior polar cataract, 1
C536669||Sj&#246;gren-Mikulicz syndrome|Sjogren-Mikulicz syndrome
C536682||Warburton Anyane Yeboa syndrome|Mosaic variegated aneuplody microcephaly syndrome
C535351||CAPOS syndrome|CAPOS|Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss|Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss|Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
C536680||Sonoda syndrome
C535350||Cerebellar ataxia ectodermal dysplasia|Cerebellar Ataxia and Ectodermal Dysplasia|Ectodermal dysplasia and cerebellar ataxia
C536685||Fatal pneumococcal Waterhouse-Friderichsen syndrome
C535353||Cerebellar hypoplasia with endosteal sclerosis
C535352||Cerebellar degeneration, subacute|Subacute cerebellar degeneration
C536683||Warfarin syndrome|Congenital warfarin syndrome|Coumarin syndrome|DiSala syndrome|Fetal anticoagulant syndrome|Warfarin embryopathy
D010390||Pemphigoid, Benign Mucous Membrane|Benign Mucosal Pemphigoid|Benign Mucosal Pemphigoids|Benign Mucous Membrane Pemphigoid|Cicatricial Pemphigoid|Cicatricial Pemphigoid, Ocular|Cicatricial Pemphigoids, Ocular|Mucosal Pemphigoid, Benign|Mucosal Pemphigoids, Benign|Mucous Membrane Pemphigoid, Benign|Ocular Cicatricial Pemphigoid|Ocular Cicatricial Pemphigoids|Pemphigoid, Benign Mucosal|Pemphigoid, Cicatricial|Pemphigoid, Ocular Cicatricial|Pemphigoids, Benign Mucosal|Pemphigoids, Ocular Cicatricial
C535355||Chorea, remitting with nystagmus and cataracts|Chorea, Remitting, with Nystagmus and Cataract|Familial remitting chorea, nystagmus and cataracts
C536684||Warman Mulliken Hayward syndrome
C535354||Cerebral astrocytoma, adult|Adult cerebral astrocytoma
C536991|252350||Moyamoya disease 1|MOYAMOYA DISEASE|MYMY|MYMY1|Spontaneous occlusion of the circle of Willis
C562932||Muscular Dystrophy, Scapulohumeral
C548666||Mycobacterial disease, Mendelian susceptibility to|Atypical Mycobacterial Infection, Familial Disseminated
611726||EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS|CEROID LIPOFUSCINOSIS, NEURONAL, 14|CLN14|EPM3
C535503|600969||Epiphyseal dysplasia, multiple, 3|EDM3|EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY, INCLUDED|Multiple epiphyseal dysplasia 3
C562934||Myopathy, Centronuclear, Autosomal Recessive|Myotubular Myopathy, Autosomal Recessive
C562935||Myopathy with Abnormal Lipid Metabolism|Lipid Storage Myopathy
C535282|259775||Raine syndrome|Lethal osteosclerotic bone dysplasia|Osteosclerotic Bone Dysplasia, Lethal|RNS
C535346||Catatrichy|Forelock
C536679||Sohval Soffer syndrome|Congenital testicular deficiency
C535345||Cataracts, ataxia, short stature, and mental retardation|CASM Syndrome|Cataract, Ataxia, Short Stature, And Mental Retardation
D010383||Pellagra|Pellagras
D010382||Peliosis Hepatis|Hepatis, Peliosis
C535347||Catel Manzke syndrome|Catel-Manzke Syndrome|Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|Index Finger Anomaly With Pierre Robin Syndrome|Palatodigital syndrome, Catel-Manzke type|Pierre Robin syndrome with hyperphalangy and clinodactyly
D010386||Pelvic Neoplasms|Cancer of Pelvis|Cancer of the Pelvis|Cancer, Pelvic|Cancer, Pelvis|Cancers, Pelvic|Cancers, Pelvis|Neoplasm, Pelvic|Neoplasm, Pelvis|Neoplasms of Pelvis|Neoplasms, Pelvic|Neoplasms, Pelvis|Pelvic Cancer|Pelvic Cancers|Pelvic Neoplasm|Pelvis Cancer|Pelvis Cancers|Pelvis Neoplasm|Pelvis Neoplasms
C536692||Wells Jankovic syndrome|Familial spastic paraparesis and deafness|Spastic Paraparesis and Deafness
C537149|307200||Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked|Agammaglobulinemia and isolated growth hormone deficiency, X-linked|Fleisher syndrome|Growth Hormone Deficiency with Hypogammaglobulinemia|HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED|IGHD3|IGHD III|Isolated growth hormone deficiency, type 3|Isolated Growth Hormone Deficiency, Type III|Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia
C536693||Wells syndrome|Bullous cellulitis with eosinophilia|Eosinophilic cellulitis|Wells&apos; syndrome
D054739||Dendritic Cell Sarcoma, Interdigitating|Interdigitating Cell Sarcoma|Interdigitating Cell Sarcomas|Interdigitating Dendritic Cell Sarcoma|Sarcoma, Interdigitating Cell|Sarcomas, Interdigitating Cell
C535362||Chromosome 1p36 Deletion Syndrome|1p36.33 deletion|1p36 deletion syndrome|Chromosome 1, 1p36 deletion syndrome|Deletion 1p36.33|Monosomy 1p36 syndrome
C536691||Wellesley Carmen French syndrome|Cataract, Aberrant Oral Frenula, And Growth Retardation|Cataracts, aberrant oral frenula, and growth retardation
C535361||Chromosome 1 ring|Ring chromosome 1
C536696||Weyers ulnar ray/oligodactyly syndrome
C535364||Chromosome 1, duplication 1p21 p32|Duplication 1p21 p32|Trisomy 1p21 p32
C562940||Craniodiaphyseal Dysplasia
C535363||Chromosome 1, deletion q21 q25|Deletion 1q21 q25|Monosomy 1q21 q25
C536694||Westphal disease|Westphal variant of Huntington&apos;s disease
C535366||Chromosome 2, trisomy 2pter p24|Duplication 2pter p24|Trisomy 2pter p24
C536658|300388||Perisylvian syndrome|BPP|BPPX|CBPS|Congenital bilateral perisylvian syndrome|Perisylvian syndrome, congenital bilateral|PMGX|Polymicrogyria, bilateral perisylvian|POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED
C535365||Chromosome 2, trisomy 2p13 p21|Duplication 2p13 p21|Trisomy 2p13 p21
C562943||Choroid Plexus Carcinoma
C562941||Telecanthus
C562942||Aortic Valve, Calcification of|Aortic Stenosis, Calcific
609400||AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4|AIS4|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED|VAMAS5|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 5
607084|C564629||Deafness, Autosomal Recessive 31|DFNB31|Whirler, Mouse, Homolog Of
C562949||Adducted Thumbs Syndrome|Thumbs, Congenital Clasped
D008088||Listeriosis|Infection, Listeria|Infections, Listeria|Listeria Infection|Listeria Infections|Listerioses
205950|C567145||Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
C537550|156600||Microcoria, congenital|Congenital microcoria|Congenital miosis|MCOR|Miosis, congenital|Pinhole pupils
C566344|603678||Deafness, Autosomal Recessive 14|DFNB14
D010392||Pemphigus|Foliaceus, Pemphigus|Pemphigus Foliaceus|Pemphigus Vulgaris
C535357||Choroid plexus calcification with mental retardation|Choroido-cerebral calcification syndrome with retardation|Choroid Plexus Calcification and Mental Retardation
D010391||Pemphigoid, Bullous|Bullous Pemphigoid|Pemphigoid|Pemphigoids
D008080||Liposarcoma|Dedifferentiated Liposarcoma|Dedifferentiated Liposarcomas|Liposarcoma, Dedifferentiated|Liposarcoma, Pleomorphic|Liposarcomas|Liposarcomas, Dedifferentiated|Liposarcomas, Pleomorphic|Pleomorphic Liposarcoma|Pleomorphic Liposarcomas
C536688||Weinstein Kliman Scully syndrome|Cardiomyopathy, hypogonadism and metabolic anomalies
C538216|125500||Dentinogenesis imperfecta, shields type 3|Brandywine type dentinogenesis imperfecta|Dentinogenesis Imperfecta, Shields Type III|DGI-III
209900|D020788||Bardet-Biedl Syndrome|Bardet Biedl Syndrome|BARDET-BIEDL SYNDROME 10, INCLUDED|BARDET-BIEDL SYNDROME 11, INCLUDED|BARDET-BIEDL SYNDROME 12, INCLUDED|BARDET-BIEDL SYNDROME 13, INCLUDED|BARDET-BIEDL SYNDROME 14, INCLUDED|BARDET-BIEDL SYNDROME 15, INCLUDED|BARDET-BIEDL SYNDROME 17, INCLUDED|BARDET-BIEDL SYNDROME 18, INCLUDED|BARDET-BIEDL SYNDROME 1, INCLUDED|BARDET-BIEDL SYNDROME 2, INCLUDED|BARDET-BIEDL SYNDROME 3, INCLUDED|BARDET-BIEDL SYNDROME 4, INCLUDED|BARDET-BIEDL SYNDROME 5, INCLUDED|BARDET-BIEDL SYNDROME 6, INCLUDED|BARDET-BIEDL SYNDROME 7, INCLUDED|BARDET-BIEDL SYNDROME 8, INCLUDED|BARDET-BIEDL SYNDROME 9, INCLUDED|BBS|BBS10, INCLUDED|BBS11, INCLUDED|BBS12, INCLUDED|BBS13, INCLUDED|BBS14, INCLUDED|BBS15, INCLUDED|BBS17, INCLUDED|BBS18, INCLUDED|BBS1, INCLUDED|BBS2, INCLUDED|BBS3, INCLUDED|BBS4, INCLUDED|BBS5, INCLUDED|BBS6, INCLUDED|BBS7, INCLUDED|BBS8, INCLUDED|BBS9, INCLUDED|Laurence Moon Bardet Biedl Syndrome|Laurence-Moon-Bardet-Biedl Syndrome|Syndrome, Bardet-Biedl|Syndrome, Laurence-Moon-Bardet-Biedl
C567561|612794||Atrial Septal Defect 5|ASD5
C536620||Say Meyer syndrome|Trigonocephaly, short stature and developmental delay|Trigonocephaly, short stature, and retarded psychomotor development|Trigonocephaly with Short Stature and Developmental Delay
C567452|611944||Lymphedema, Hereditary, IB|LMPH1B
172800|D016116||Piebaldism|Albinism, Cutaneous|Albinism, Partial|Cutaneous Albinism|Partial Albinism|PBT|PIEBALDISM|Piebald Trait
C562912||Rudiger Syndrome
D008048||Lip Neoplasms|Cancer, Lip|Cancer of Lip|Cancer of the Lip|Cancers, Lip|Lip Cancer|Lip Cancers|Lip Neoplasm|Neoplasm, Lip|Neoplasms, Lip
D009379||Neoplasms, Muscle Tissue|Muscle Tissue Neoplasm|Muscle Tissue Neoplasms|Myoblastoma|Myoblastomas|Myofibroblastoma|Myofibroblastomas|Neoplasm, Muscle Tissue
D009389||Neovascularization, Pathologic|Angiogenesis, Pathologic|Angiogenesis, Pathological|Neovascularization, Pathological|Pathological Angiogenesis|Pathological Neovascularization|Pathologic Angiogenesis|Pathologic Neovascularization
C536618||Say Barber Miller syndrome|Microcephaly hypogammaglobulinemia abnormal immunity
D057180|600274||Frontotemporal Dementia|Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy|Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy|Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy|Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy|DDPAC|Dementia, Frontotemporal|Dementia, Frontotemporal Lobe|Dementia, Frontotemporal Lobe (FLDEM)|Dementia, Frontotemporal, with Parkinsonism|Dementia, GRN-Related Frontotemporal|Dementia, Hereditary Dysphasic Disinhibition|Dementia, Semantic|Dementias, Frontotemporal|Dementias, Frontotemporal Lobe|Dementias, Frontotemporal Lobe (FLDEM)|Dementias, GRN-Related Frontotemporal|Dementias, Semantic|Dementias, Ubiquitin-Positive Frontotemporal|Dementia, Ubiquitin-Positive Frontotemporal|Disease, Familial Pick&apos;s|Diseases, Familial Pick&apos;s|Diseases, Wilhelmsen-Lynch|Disease, Wilhelmsen-Lynch|Disinhibition Dementia Parkinsonism Amyotrophy Complex|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices|Disinhibition Dementia Parkinsonism Amytrophy Complex|Disinhibition-Dementia-Parkinsonism-Amytrophy Complex|Disinhibition-Dementia-Parkinsonism-Amytrophy Complices|Familial Pick Disease|Familial Pick&apos;s Disease|Familial Picks Disease|Familial Pick&apos;s Diseases|FLDEM|FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS|Frontotemporal Dementia, GRN-Related|Frontotemporal Dementias|Frontotemporal Dementias, GRN-Related|Frontotemporal Dementias, Ubiquitin-Positive|Frontotemporal Dementia, Ubiquitin Positive|Frontotemporal Dementia, Ubiquitin-Positive|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia with Parkinsonism 17|Frontotemporal Dementia with Parkinsonism-17|FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS|Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions|Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions|Frontotemporal Lobe Dementia|Frontotemporal Lobe Dementia (FLDEM)|Frontotemporal Lobe Dementias|Frontotemporal Lobe Dementias (FLDEM)|FTD|FTD-ALS|FTD-GRN|FTDP17|FTDP-17|FTD-PGRN|FTLD-17 GRN|FTLD-TDP|FTLD WITH TAU INCLUSIONS|FTLD with TDP 43 Pathology|FTLD with TDP-43 Pathology|GRN Related Frontotemporal Dementia|GRN-Related Frontotemporal Dementia|GRN-Related Frontotemporal Dementias|HDDD1|HDDD2|Hereditary Dysphasic Disinhibition Dementia|Lobe Dementia, Frontotemporal|Lobe Dementias, Frontotemporal|MSTD|Multiple System Tauopathy with Presenile Dementia|PALLIDOPONTONIGRAL DEGENERATION;PPND PICK COMPLEX, INCLUDED|Pick&apos;s Disease, Familial|Pick&apos;s Diseases, Familial|Semantic Dementia|Semantic Dementias|Ubiquitin-Positive Frontotemporal Dementia|Ubiquitin-Positive Frontotemporal Dementias|Wilhelmsen Lynch Disease|Wilhelmsen-Lynch Disease|Wilhelmsen-Lynch Diseases|WLD
C536619||Say Field Coldwell syndrome|Triphalangeal thumbs and dislocation of patella
D009386||Neoplastic Syndromes, Hereditary|Cancer Syndrome, Hereditary|Cancer Syndromes, Hereditary|Hereditary Cancer Syndrome|Hereditary Cancer Syndromes|Hereditary Neoplastic Syndrome|Hereditary Neoplastic Syndromes|Neoplastic Syndrome, Hereditary|Syndrome, Hereditary Cancer|Syndrome, Hereditary Neoplastic|Syndromes, Hereditary Cancer|Syndromes, Hereditary Neoplastic
D009385||Neoplastic Processes|Processes, Neoplastic
D009384||Paraneoplastic Endocrine Syndromes|Ectopic Hormone Syndrome|Ectopic Hormone Syndromes|Endocrine Syndrome, Paraneoplastic|Paraneoplastic Endocrine Syndrome|Syndrome, Ectopic Hormone|Syndrome, Paraneoplastic Endocrine|Syndromes, Ectopic Hormone|Syndromes, Paraneoplastic Endocrine
D009383||Neoplasms, Vascular Tissue|Blood Vessel Tumor|Blood Vessel Tumors|Neoplasm, Vascular Tissue|Tumor, Blood Vessel|Tumors, Blood Vessel|Vascular Tissue Neoplasm|Vascular Tissue Neoplasms
D009382||Neoplasms, Unknown Primary|Neoplasm Metastasis, Unknown Primary|Neoplasm, Occult Primary|Neoplasms, Occult Primary|Neoplasm, Unknown Primary|Occult Primary Neoplasm|Occult Primary Neoplasms|Primary Neoplasm, Occult|Primary Neoplasms, Occult|Primary Neoplasms, Unknown|Primary Neoplasm, Unknown|Primary Tumors, Unknown|Primary Tumor, Unknown|Tumors, Unknown Primary|Tumor, Unknown Primary|Unknown Primary Neoplasm|Unknown Primary Neoplasm Metastasis|Unknown Primary Neoplasms|Unknown Primary Tumor|Unknown Primary Tumors
D008052||Lipid Metabolism, Inborn Errors|Lipid Metabolism, Inborn Error
C563930|600513||Epilepsy, Nocturnal Frontal Lobe, Type 1|ENFL1|EPILEPSY, NOCTURNAL FRONTAL LOBE, 1
D009381||Neoplasms, Radiation-Induced|Cancer, Radiation Induced|Cancer, Radiation-Induced|Cancers, Radiation-Induced|Neoplasm, Radiation-Induced|Neoplasms, Radiation Induced|Radiation Induced Cancer|Radiation-Induced Cancer|Radiation-Induced Cancers|Radiation-Induced Neoplasm|Radiation Induced Neoplasms|Radiation-Induced Neoplasms
C537944||Cerebral hemorrhage with amyloidosis, hereditary, Dutch type|Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant|HCHWAD
D009380||Neoplasms, Nerve Tissue|Neoplasm, Nerve Tissue|Neoplasm, Nervous Tissue|Neoplasms, Nervous Tissue|Nerve Tissue Neoplasm|Nerve Tissue Neoplasms|Nervous Tissue Neoplasm|Nervous Tissue Neoplasms
C537941||Chromosome 8, partial trisomy|Partial trisomy 8|Trisomy Partial 8
C536610||Familial cerebral cavernous malformation|Familial cavernous hemangioma|Familial cerebral cavernous angioma
C537942||Chromosome 8, trisomy|Chromosome 8 duplication|Trisomy 8
D054740||Dendritic Cell Sarcoma, Follicular|Follicular Dendritic Cell Sarcoma
C537947||Cerebrospinal fluid leak|Spinal Cerebrospinal fluid leak
C536616||Satoyoshi syndrome|Komuragaeri Disease|Muscle spasms, intermittent with alopecia, diarrhea, and skeletal abnormalities|Muscle Spasms, Intermittent, With Alopecia, Diarrhea, And Skeletal Abnormalities
D054747||Histiocytic Sarcoma|Histiocytic Lymphomas, True|Histiocytic Lymphoma, True|Histiocytic Sarcomas|Histiocytoses, Malignant|Histiocytoses, True Malignant|Histiocytosis, Malignant|Histiocytosis, True Malignant|Lymphomas, True Histiocytic|Lymphoma, True Histiocytic|Malignant Histiocytoses|Malignant Histiocytoses, True|Malignant Histiocytosis|Malignant Histiocytosis, True|Sarcoma, Histiocytic|Sarcomas, Histiocytic|True Histiocytic Lymphoma|True Histiocytic Lymphomas|True Malignant Histiocytoses|True Malignant Histiocytosis
D011694||Purpura, Hyperglobulinemic|Benign Hyperglobulinemic Purpura of Waldenstr&#246;m|Hypergammaglobulinemic Purpura of Waldenstrom|Hyperglobulinemic Purpura|Hyperglobulinemic Purpura of Waldenstr&#246;m|Hyperglobulinemic Purpuras|Hyperglobulinemic Purpura, Waldenstrom|Purpuras, Hyperglobulinemic|Purpura, Waldenstrom Hyperglobulinemic|Waldenstrom Hypergammaglobulinemic Purpura|Waldenstrom Hyperglobulinemic Purpura|Waldenstr&#246;m Hyperglobulinemic Purpura
C537948||Ceroid lipofuscinosis, neuronal 1, infantile|Infantile neuronal ceroid lipofuscinosis (INCL)|Neuronal ceroid lipofuscinosis, infantile Finnish type|Santavuori disease
C536617||Saul Wilkes Stevenson syndrome
D011693||Purpura|Petechiae|Purpuras
C537945||Cerebral palsy, spastic, diplegic|Spastic diplegia cerebral palsy
D011696||Purpura, Thrombocytopenic|Purpuras, Thrombocytopenic|Purpuras, Thrombopenic|Purpura, Thrombopenic|Thrombocytopenic Purpura|Thrombocytopenic Purpuras|Thrombopenic Purpura|Thrombopenic Purpuras
D010282|608266||Parathyroid Neoplasms|Adenoma, Parathyroid|Adenomas, Parathyroid|Cancer of Parathyroid|Cancer of the Parathyroid|Cancer, Parathyroid|Cancers, Parathyroid|Carcinoma, Parathyroid|Carcinomas, Parathyroid|Neoplasm, Parathyroid|Neoplasms, Parathyroid|Parathyroid Adenoma|Parathyroid Adenomas|Parathyroid Cancer|Parathyroid Cancers|Parathyroid Carcinoma|Parathyroid Carcinomas|Parathyroid Neoplasm|PRTC
C537946||Cerebral sarcoma|Familial cerebral sarcomas
D011695||Purpura, Schoenlein-Henoch|Allergic Purpura|Anaphylactoid Purpura|Hemorrhagica, Purpura|Hemorrhagic Vasculitis|Henoch Purpura|Henoch Schoenlein Purpura|Henoch-Schoenlein Purpura|Henoch Schonlein Purpura|Henoch-Schonlein Purpura|Henoch Schonlein Purpuras|Henoch-Schonlein Purpuras|Nonthrombocytopenic Purpura|Nonthrombopenic Purpura|Nonthrombopenic Purpuras|Purpura, Allergic|Purpura, Anaphylactoid|Purpura Hemorrhagica|Purpura, Henoch|Purpura, Henoch-Schoenlein|Purpura, Henoch Schonlein|Purpura, Henoch-Schonlein|Purpura, Nonthrombocytopenic|Purpura, Nonthrombopenic|Purpura, Rheumatoid|Purpura, Schoenlein Henoch|Purpura, Schonlein Henoch|Purpura, Schonlein-Henoch|Purpuras, Henoch Schonlein|Purpuras, Henoch-Schonlein|Purpuras, Nonthrombopenic|Purpuras, Schonlein-Henoch|Rheumatoid Purpura|Schoenlein Henoch Purpura|Schoenlein-Henoch Purpura|Schonlein-Henoch Purpura|Schonlein-Henoch Purpuras|Schonlein Purpura, Henoch|Schonlein Purpuras, Henoch|Vasculitis, Hemorrhagic
C537961||Calcifying Epithelial Odontogenic Tumor|Pindborg tumor
C536630||Schimke X-linked mental retardation syndrome|Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness|Choreoathetosis with mental retardation X- linked|Choreoathetosis With Mental Retardation, X-Linked|Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness
C537962||Calloso-genital dysplasia|Primary amenorrhoea with coloboma and total agenesis of the corpus callosum
C535300||Autosomal dominant compelling helio ophthalmic outburst syndrome|Autosomal Dominant Compelling Helioophthalmic Outburst Syndrome|Peroutka sneeze|Photic sneeze reflex
C537960||Calabro syndrome
C562925||Collagenoma, Familial Cutaneous
C566556|602390||Hemochromatosis, Type 2A|HEMOCHROMATOSIS, JUVENILE, INCLUDED|HEMOCHROMATOSIS, TYPE 2, INCLUDED|HFE2A|HFE2, INCLUDED|JH, INCLUDED
D012035|266500||Refsum Disease|Adult Refsum Disease|Adult Refsum Diseases|Classic Refsum Disease|Classic Refsum Diseases|Disease, Adult Refsum|Disease, Classic Refsum|Disease, Refsum|Disease, Refsum&apos;s|Diseases, Adult Refsum|Diseases, Classic Refsum|Hemeralopia Heredoataxia Polyneuritiformis|Hereditary Motor And Sensory Neuropathy Iv|Hereditary Motor and Sensory Neuropathy Type IV|Hereditary Motor and Sensory Neuropathy, Type IV|Hereditary Type IV Motor and Sensory Neuropathy|Heredoataxia Polyneuritiformis, Hemeralopia|Heredopathia Atactica Polyneuritiformis|HMSN 4|HMSN IV|HMSN IVs|HMSN Type IV|HSMN4|Neuropathy, Hereditary Motor and Sensory, Type IV|Phytanic Acid Oxidase Deficiency|Phytanic Acid Storage Disease|Polyneuritiformis, Hemeralopia Heredoataxia|Polyneuritiformis, Heredopathia Atactica|Refsum Disease, Adult|REFSUM DISEASE, ADULT, 1|Refsum Disease, Classic|Refsum Disease, Phytanic Acid Oxidase Deficiency|Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency|Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency|Refsum Diseases, Adult|Refsum Diseases, Classic|Refsum&apos;s Disease|Refsums Disease|Refsum&apos;s Syndrome|Refsums Syndrome|Refsum Syndrome|Refsum Thiebaut Syndrome|Refsum-Thiebaut Syndrome|Refsum-Thiebaut Syndromes|Syndrome, Refsum|Syndrome, Refsum&apos;s|Syndrome, Refsum-Thiebaut|Syndromes, Refsum-Thiebaut
D010378||Pedophilia|Pedophilias
D008068||Lipomatosis|Lipomatoses
D008069||Lipomatosis, Multiple Symmetrical|Cephalothoracic Lipodystrophies|Cephalothoracic Lipodystrophy|Circumscribed Lipomatoses, Nodular|Circumscribed Lipomatosis, Nodular|Disease, Madelung|Disease, Madelung&apos;s|Lipodystrophies, Cephalothoracic|Lipodystrophy, Cephalothoracic|Lipomatoses, Multiple Symmetric|Lipomatoses, Multiple Symmetrical|Lipomatoses, Nodular Circumscribed|Lipomatosis Familial Benign Cervical|Lipomatosis, Familial Benign Cervical|Lipomatosis, Multiple Symmetric|Lipomatosis, Nodular Circumscribed|Madelung Disease|Madelung Neck|Madelung&apos;s Disease|Madelungs Disease|Madelung&apos;s Neck|Madelungs Neck|Multiple Symmetrical Lipomatoses|Multiple Symmetrical Lipomatosis|Multiple Symmetric Lipomatoses|Multiple Symmetric Lipomatosis|Nodular Circumscribed Lipomatoses|Nodular Circumscribed Lipomatosis|Symmetrical Lipomatoses, Multiple|Symmetrical Lipomatosis, Multiple|Symmetric Lipomatoses, Multiple|Symmetric Lipomatosis, Multiple
D034321||Hyperamylasemia|Macroamylasemia
D009397||Nephrocalcinosis|Nephrocalcinoses
D008067||Lipoma|Atypical Lipoma|Atypical Lipomas|Fatty Tumor|Fatty Tumors|Hibernoma|Hibernomas|Lipoma, Atypical|Lipoma, Pleomorphic|Lipomas|Lipomas, Atypical|Lipomas, Pleomorphic|Lipomata|Lipomatas|Lipomatosis, Multiple|Pleomorphic Lipoma|Pleomorphic Lipomas|Tumor, Fatty|Tumors, Fatty
C538582|101600||Pfeiffer type acrocephalosyndactyly|Acrocephalosyndactyly, type 5|ACROCEPHALOSYNDACTYLY, TYPE V|ACS5|ACS V|NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED|PFEIFFER SYNDROME
D008064||Lipidoses|Lipidosis|Lipoidosis
D009395||Nephritis, Interstitial|Interstitial Nephritides|Interstitial Nephritis|Nephritides, Interstitial|Nephritides, Tubulointerstitial|Nephritis, Tubulointerstitial|Tubulointerstitial Nephritides|Tubulointerstitial Nephritis
D014929|222300||Wolfram Syndrome|Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness|Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness|DIDMOAD|DIDMOAD Syndrome|DIDMOADUD|Syndrome, Wolfram|WFS|WFS1|Wolfram Syndrome 1
D004819|226400||Epidermodysplasia Verruciformis|Disease, Lewandowsky-Lutz|Disease, Lutz-Lewandowsky|EV|EVER|Lewandowsky Lutz Disease|Lewandowsky-Lutz Disease|Lutz Lewandowsky Disease|Lutz-Lewandowsky Disease
D009394||Nephritis, Hereditary|Alport&apos;s Syndrome|Alport Syndrome|Alport Syndrome, Autosomal Dominant|Alport Syndrome, Autosomal Recessive|Alport Syndrome, X Linked|Alport Syndrome, X-Linked|Congenital Hereditary Hematuria|Familial Nephritis|Hematuria, Congenital Hereditary|Hematuria Nephropathy Deafness Syndrome|Hematuria-Nephropathy-Deafness Syndrome|Hematuric Hereditary Nephritis|Hemorrhagic Familial Nephritis|Hemorrhagic Hereditary Nephritis|Hereditary Familial Congenital Hemorrhagic Nephritis|Hereditary Hematuria Syndrome|Hereditary Interstitial Pyelonephritis|Hereditary Nephritis|Nephritis, Familial|Nephritis, Hematuric Hereditary|Nephritis, Hemorrhagic Familial|Nephritis, Hemorrhagic Hereditary|Pyelonephritis, Hereditary Interstitial|Syndrome, Alport|Syndrome, Hematuria-Nephropathy-Deafness|X-Linked Alport Syndrome
D009393||Nephritis|Nephritides
C536868|601162||Spastic paraplegia 9, autosomal dominant|Autosomal dominant spastic paraparesis|Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|Cataracts, motor neuronopathy, short stature and skeletal abnormalities|Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities|Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux|SPG9
C536623||Scalp ear nipple syndrome|Finlay-Marks Syndrome|Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|Scalp-Ear-Nipple Syndrome
D008060||Lipodystrophy|Lipodystrophies
C536624||Scapuloperoneal myopathy|Myopathy, scapuloperoneal|Scapuloperoneal syndrome, myopathic type
D008061||Whipple Disease|Disease, Whipple|Disease, Whipple&apos;s|Intestinal Lipodystrophy|Lipodystrophy, Intestinal|Whipple&apos;s Disease|Whipples Disease
C536621||Say syndrome|Cleft palate large ears small head|Cleft palate, microcephaly, large ears, and short stature|Say Barber Hobbs syndrome
C537356|156530||Metatropic dwarfism|METATROPIC DWARFISM|Metatropic Dysplasia|Metatropic dysplasia 1|Metatropic Dysplasia Type 1
D054752||Langerhans Cell Sarcoma|Langerhans Cell Sarcomas|Sarcoma, Langerhans Cell|Sarcomas, Langerhans Cell
D053421||Hand-Arm Vibration Syndrome|Hand Arm Vibration Syndrome|Hand-Arm Vibration Syndromes|Syndrome, Hand-Arm Vibration|Syndromes, Hand-Arm Vibration|Vibration Syndrome, Hand-Arm|Vibration Syndromes, Hand-Arm
C536622||Scalp defects postaxial polydactyly|Congenital scalp defects associated with postaxial polydactyly|Scalp Defects And Postaxial Polydactyly
D036981||Fasciitis, Plantar|Chronic Plantar Fasciitis|Fasciitis, Chronic Plantar|Fasciitis, Plantar, Chronic|Heel Spur Syndrome|Plantar Fasciitis|Plantar Fasciitis, Chronic
C536627||Schaefer Stein Oshman syndrome|Craniodiaphyseal dysplasia, dominant|Dominantly inherited craniodiaphyseal dysplasia
D036982||Heel Spur|Calcaneal Spur|Calcaneal Spurs|Heel Spurs|Spur, Calcaneal|Spur, Heel|Spurs, Calcaneal|Spurs, Heel
C537959||CAHMR syndrome|Cataract, Hypertrichosis, Mental Retardation syndrome
D010373||Lice Infestations|Infestation, Lice|Infestations, Lice|Lice Infestation|Pediculoses|Pediculosis
C537956||Cervical hypertrichosis neuropathy
C536625||SCARF syndrome|Skeletal Abnormalities, Cutis Laxa, Craniostenosis, Ambiguous Genitalia, Retardation, And Facial Abnormalities
C537957||Acute fatty liver of pregnancy|Acute fatty liver, gestational
C536626||Schaap Taylor Baraitser syndrome|Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature
C565166||C9 Deficiency with Dermatomyositis
C537972||Camptodactyly taurinuria|Camptodactyly with Taurinuria
C565167||Complement Component 4a Deficiency
C537973||Camptodactyly vertebral fusion|Camptodactyly and sacral vertebral fusion
C563855|608804||Leukodystrophy, Hypomyelinating, 2|HLD2|Pelizaeus-Merzbacher-Like Disease, 1|PMLD1
C537970||Camptodactyly syndrome Guadalajara type 1|Camptodactyly Syndrome, Guadalajara, Type I|Facio-thoraco-skeletal syndrome|Faciothoracoskeletal Syndrome|Guadalajara camptodactyly syndrome|Guadalajara camptodactyly syndrome type 1
C565169||Complement Component 3 Deficiency, Autosomal Recessive|C3 Deficiency, Autosomal Recessive
C537971||Camptodactyly syndrome Guadalajara type 2|Guadalajara camptodactyly syndrome type 2
C535440|210370||Bietti Crystalline Dystrophy|BCD|Bietti Crystalline Corneoretinal Dystrophy|Bietti Crystalline Retinopathy|Bietti&apos;s crystalline corneoretinal dystrophy|Bietti&apos;s crystalline dystrophy|Bietti tapetoretinal degeneration with marginal corneal dystrophy
C567319|612406||Dystonia 17, Torsion, Autosomal Recessive|DYT17
D009358||Congenital, Hereditary, and Neonatal Diseases and Abnormalities|Congenital Disorder|Congenital Disorders|Disorder, Congenital|Disorders, Congenital|Neonatal Diseases and Abnormalities
D009357||Neonatal Abstinence Syndrome|Abstinence Syndrome, Neonatal|Abstinence Syndromes, Neonatal|Addiction, Neonatal Passive|Addictions, Neonatal Passive|Neonatal Abstinence Syndromes|Neonatal Passive Addiction|Neonatal Passive Addictions|Neonatal Substance Withdrawal|Neonatal Substance Withdrawals|Neonatal Withdrawal Syndrome|Neonatal Withdrawal Syndromes|Passive Addiction, Neonatal|Passive Addictions, Neonatal|Substance Withdrawal, Neonatal|Substance Withdrawals, Neonatal|Syndrome, Neonatal Abstinence|Syndrome, Neonatal Withdrawal|Syndromes, Neonatal Abstinence|Syndromes, Neonatal Withdrawal|Withdrawal, Neonatal Substance|Withdrawal Syndrome, Neonatal|Withdrawal Syndromes, Neonatal
D009366||Neoplasm Seeding|Seeding, Neoplasm
D009365||Neoplasm Regression, Spontaneous|Neoplasm Remission, Spontaneous|Regression, Spontaneous Neoplasm|Remission, Spontaneous Neoplasm|Spontaneous Neoplasm Regression|Spontaneous Neoplasm Remission
C562938|156250||Metachondromatosis|METCDS
D009364||Neoplasm Recurrence, Local|Local Neoplasm Recurrence|Local Neoplasm Recurrences|Locoregional Neoplasm Recurrence|Locoregional Neoplasm Recurrences|Neoplasm Recurrence, Locoregional|Neoplasm Recurrences, Local|Neoplasm Recurrences, Locoregional|Recurrence, Local Neoplasm|Recurrence, Locoregional Neoplasm|Recurrences, Local Neoplasm|Recurrences, Locoregional Neoplasm
D009362||Neoplasm Metastasis|Metastases|Metastases, Neoplasm|Metastasis|Metastasis, Neoplasm|Neoplasm Metastases
D009361||Neoplasm Invasiveness|Invasion, Neoplasm|Invasiveness, Neoplasm|Neoplasm Invasion
C535308|210200||3-methylcrotonyl CoA carboxylase 1 deficiency|3 alpha methylcrotonylglycinuria 1|3-Mcc Deficiency|3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY|3-Methylcrotonyl-Coa Carboxylase Deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency|3 Methylcrotonylglycinuria|3-Methylcrotonylglycinuria|3-Methylcrotonylglycinuria I|Bmcc Deficiency|Deficiency of Methylcrotonoyl-Coa Carboxylase|MCC1 Deficiency|Mcc Deficiency|MCCD Type 1|methylcrotonoyl-CoA carboxylase 1 deficiency|Methylcrotonyl-Coa Carboxylase Deficiency|Methylcrotonylglycinuria Type I
D009360||Neoplastic Cells, Circulating|Cell, Circulating Neoplastic|Cell, Circulating Tumor|Cell, Embolic Tumor|Cell, Neoplasm Circulating|Cells, Circulating Neoplastic|Cells, Circulating Tumor|Cells, Embolic Tumor|Cells, Neoplasm Circulating|Circulating Cells, Neoplasm|Circulating Neoplastic Cell|Circulating Neoplastic Cells|Circulating Tumor Cell|Circulating Tumor Cells|Embolic Tumor Cell|Embolic Tumor Cells|Embolisms, Tumor|Embolism, Tumor|Neoplasm Circulating Cell|Neoplasm Circulating Cells|Neoplastic Cell, Circulating|Tumor Cell, Circulating|Tumor Cell, Embolic|Tumor Cells, Circulating|Tumor Cells, Embolic|Tumor Embolism|Tumor Embolisms
C565173||Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation
C537965||CAMFAK syndrome|Cataract-microcephaly-failure to thrive-kyphoscoliosis|Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
C536634||Schizotaxia
C537966||Campomelia Cumming type|Campomelia, Cumming Type|Cervical lymphocele with bowed long bones|Cumming syndrome
C536635||Schlegelberger Grote syndrome|Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear|Triphalangeal thumbs thrombocytopathy deafness
C537963||Calvarial hyperostosis|Isolated hyperostosis of the calvarium
C537964||Camera Marugo Cohen syndrome|Camera-Marugo-Cohen Syndrome
C536633||Schisis association|Midline development field defects
C537969||Camptodactyly joint contractures and facial skeletal dysplasia
C536638||Scholte syndrome|Early balding, patella luxation, acromicria and hypogonadism|Early Balding, Patella Luxation, Acromicria, And Hypogonadism
C565170||Complement Component C1s Deficiency|C1s Deficiency
C536639||Schrander-Stumpel Theunissen Hulsmans syndrome|Vitiligo, psychomotor retardation, cleft palate and facial dysmorphism|Vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism
C535305||2-hydroxyethyl methacrylate sensitization|Sensitization to 2-hydroxyethyl methacrylate
D011671||Pulpitis|Endodontic Inflammation|Endodontic Inflammations|Inflammation, Endodontic|Inflammations, Endodontic|Pulpitides
C537967||Camptobrachydactyly|Short foot/brachydactyly of toes, camptodactyly , brachydactyly
C565172||Colonic Varices without Portal Hypertension
D018288|182280||Carcinoma, Small Cell|Carcinoma, Oat Cell|Carcinomas, Oat Cell|Carcinomas, Small Cell|Oat Cell Carcinoma|Oat Cell Carcinomas|SCCL|SCLC|SCLC1|SMALL CELL CANCER OF THE LUNG|Small Cell Carcinoma|Small Cell Carcinomas
C537968||Camptocormia|Bent spine|Bent Spine Syndrome|Camptocormism
C535307||2-Methylacetoacetyl CoA thiolase deficiency
C564907|260450||Pancreatic Insufficiency, Combined Exocrine
C537980||CANOMAD syndrome
C565177||Stickler Syndrome, Autosomal Recessive, COL9A1-Related
C565178||OI/EDS Combined Syndrome
C536653||Penttinen-Aula syndrome|Premature aging syndrome Penttinen type|Premature Aging Syndrome, Penttinen Type
C565179||Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
C537981||Cantalamessa Baldini Ambrosi syndrome|Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation
C536650||Penoscrotal transposition|Congenital transposition of the penis|Prepenile scrotum
C535322||5-oxoprolinase deficiency|5-alpha-oxoprolinase deficiency|Oxoprolinuria due to 5-oxoprolinase deficiency|Oxoprolinuria Due To Oxoprolinase Deficiency
C535321||5-Nucleotidase syndrome|5&apos;-Nucleotidase syndrome
C536050|166250||Osteoglophonic dwarfism|Fairbank-Keats syndrome|OGD|OSTEOGLOPHONIC DWARFISM|Osteoglophonic dysplasia
C563914|608545||Larsen-Like Syndrome|LRSL
C562900||Glomerulopathy with Giant Fibrillar Deposits|Glomerulopathy with Fibronectin Deposits 1|Lobular Glomerulopathy, Familial
D008039||Linitis Plastica
D009369||Neoplasms|Benign Neoplasm|Benign Neoplasms|Cancer|Other Cancers|Cancers|Neoplasia|Neoplasm|Neoplasm, Benign|Neoplasms, Benign|Tumor|Tumors
C562902||Oligosynaptic Infertility|Oligochiasmic Infertility
C562907||Twenty-Nail Dystrophy|Onychodystrophy Totalis, Isolated
D009378||Neoplasms, Multiple Primary|Multiple Primary Neoplasm|Multiple Primary Neoplasms|Multiple Primary Neoplasms, Synchronous|Neoplasm, Multiple Primary|Neoplasms, Synchronous|Neoplasms, Synchronous Multiple Primary|Neoplasm, Synchronous|Primary Neoplasm, Multiple|Primary Neoplasms, Multiple|Synchronous Multiple Primary Neoplasms|Synchronous Neoplasm|Synchronous Neoplasms
D011686||Purine-Pyrimidine Metabolism, Inborn Errors|Purine Pyrimidine Metabolism, Inborn Errors
D009377||Multiple Endocrine Neoplasia|Adenomatoses, Familial Endocrine|Adenomatoses, Multiple Endocrine|Adenomatosis, Familial Endocrine|Adenomatosis, Multiple Endocrine|Adenopathies, Multiple Endocrine|Adenopathy, Multiple Endocrine|Endocrine Adenomatoses, Familial|Endocrine Adenomatoses, Multiple|Endocrine Adenomatosis, Familial|Endocrine Adenomatosis, Multiple|Endocrine Adenopathies, Multiple|Endocrine Adenopathy, Multiple|Endocrine Neoplasia, Multiple|Endocrine Neoplasms, Multiple|Familial Endocrine Adenomatoses|Familial Endocrine Adenomatosis|Multiple Endocrine Adenomatoses|Multiple Endocrine Adenomatosis|Multiple Endocrine Adenopathies|Multiple Endocrine Adenopathy|Multiple Endocrine Neoplasia Syndromes|Multiple Endocrine Neoplasms|Neoplasia, Multiple Endocrine|Neoplasms, Multiple Endocrine
D008047||Lip Diseases|Disease, Lip|Diseases, Lip|Lip Disease
D009376||Neoplasms, Hormone-Dependent|Hormone-Dependent Neoplasm|Hormone Dependent Neoplasms|Hormone-Dependent Neoplasms|Neoplasm, Hormone-Dependent|Neoplasms, Hormone Dependent
D009375||Neoplasms, Glandular and Epithelial|Epithelial Neoplasm|Epithelial Neoplasm, Glandular|Epithelial Neoplasms|Epithelial Neoplasms, Glandular|Glandular and Epithelial Neoplasms|Glandular Epithelial Neoplasm|Glandular Epithelial Neoplasms|Glandular Neoplasm|Glandular Neoplasms|Neoplasm, Epithelial|Neoplasm, Glandular|Neoplasm, Glandular Epithelial|Neoplasms, Epithelial|Neoplasms, Glandular|Neoplasms, Glandular Epithelial
D009374||Neoplasms, Experimental|Experimental Neoplasm|Experimental Neoplasms|Neoplasm, Experimental
D009373||Neoplasms, Germ Cell and Embryonal|Cancer, Embryonal|Cancer, Embryonal and Mixed|Cancer, Germ Cell|Cancers, Embryonal|Cancers, Germ Cell|Embryonal Cancer|Embryonal Cancers|Embryonal Neoplasm|Embryonal Neoplasms|Germ Cell and Embryonal Neoplasms|Germ Cell and Embryonic Neoplasms|Germ Cell Cancer|Germ Cell Cancers|Germ Cell Neoplasms|Germ Cell Tumor|Germ Cell Tumors|Neoplasm, Embryonal|Neoplasms, Embryonal|Neoplasms, Embryonal and Mixed|Neoplasms, Germ Cell|Neoplasms, Germ Cell and Embryonic|Tumor, Germ Cell|Tumors, Germ Cell
C562909||Pseudoatrophoderma Colli
D009372||Neoplasms, Connective Tissue|Connective Tissue Neoplasm|Connective Tissue Neoplasms|Neoplasm, Connective Tissue
D009371||Neoplasms by Site|Neoplasms by Sites|Neoplasm Site|Neoplasm Sites|Site, Neoplasm|Sites, Neoplasm
C537976||Camptodactyly-ichthyosis syndrome|Camptodactyly ichthyosis syndrome
C535313||3C syndrome|CCC dysplasia|Craniocerebellocardiac dysplasia|Dandy-Walker-like malformation with atrioventricular septal defect|Ritscher Schinzel syndrome|Ritscher-Schinzel Syndrome
D009370||Neoplasms by Histologic Type|Histological Type of Neoplasm|Histological Types of Neoplasms|Neoplasm Histological Type|Neoplasm Histological Types|Neoplasms by Histological Type|Neoplasms Histological Type|Neoplasms Histological Types
C537977||Camptomelic syndrome long limb type|Campomelic syndrome long limb type|Campomelic Syndrome, Long-Limb Type|Camptomelic Syndrome, Long-Limb Type
C536646||Pena Shokeir syndrome Type 2|Pena-Shokeir syndrome type 2
C535312||3-Hydroxyisobutyric aciduria
612529|C567279||Amelogenesis Imperfecta, Hypomaturation Type, Iia2|Ai2a2|Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2
C537974||Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia|Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia
C562601|223100||Lactose Intolerance, Adult Type|Adult Lactase Deficiency|Disaccharide Intolerance III|DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE, INCLUDED|Hypolactasia, Adult Type
C535315||4-hydroxyphenylacetic aciduria
D011681||Pupil Disorders|Abnormal Pupillary Function|Abnormal Pupillary Functions|Afferent Pupillary Defect|Afferent Pupillary Defects|Anomalies, Pupillary|Anomaly, Pupillary|Argyll-Robertson Pupil, Non-Syphilitic|Deformed Pupil|Deformed Pupils|Ectopic Pupil|Ectopic Pupils|Efferent Pupillary Defect|Efferent Pupillary Defects|Fixed Pupil|Fixed Pupils|Hemianopic Pupil, Wernicke|Hemianopic Pupil, Wernicke&apos;s|Keyhole Pupil|Keyhole Pupils|Malformation, Pupil|Malformations, Pupil|Marcus Gunn Pupil|Marcus-Gunn Pupil|Non Syphilitic Argyll Robertson Pupil|Non-Syphilitic Argyll-Robertson Pupil|Occluded Pupil|Occluded Pupils|Occlusion, Pupillary|Occlusions, Pupillary|Paralyses, Pupillary|Paralyses, Pupillary Sector|Paralysis, Pupillary|Paralysis, Pupillary Sector|Pupil, Deformed|Pupil Disorder|Pupil, Ectopic|Pupil, Fixed|Pupil, Keyhole|Pupillary Anomalies|Pupillary Anomaly|Pupillary Defect, Afferent|Pupillary Defect, Efferent|Pupillary Defects, Afferent|Pupillary Defects, Efferent|Pupillary Disorder|Pupillary Disorders|Pupillary Function, Abnormal|Pupillary Functions, Abnormal|Pupillary Occlusion|Pupillary Occlusions|Pupillary Paralyses|Pupillary Paralysis|Pupillary Sector Paralyses|Pupillary Sector Paralysis|Pupillary Sphincter Rupture|Pupillary Sphincter Ruptures|Pupil Malformation|Pupil Malformations|Pupil, Marcus-Gunn|Pupil, Non-Syphilitic Argyll-Robertson|Pupil, Occluded|Pupil Reaction Absent|Pupils, Deformed|Pupils, Ectopic|Pupils, Fixed|Pupils, Keyhole|Pupils, Occluded|Pupil, Wernicke Hemianopic|Pupil, Wernicke&apos;s Hemianopic|Reaction Absent, Pupil|Reaction Absents, Pupil|Rupture, Pupillary Sphincter|Ruptures, Pupillary Sphincter|Sector Paralyses, Pupillary|Sector Paralysis, Pupillary|Sector Pupil Palsy|Sphincter Rupture, Pupillary|Sphincter Ruptures, Pupillary|Wernicke Hemianopic Pupil|Wernicke&apos;s Hemianopic Pupil|Wernickes Hemianopic Pupil
189960|C531835||Esophageal atresia with or without tracheoesophageal fistula|Ea/Tef|Esophageal Atresia Tracheoesophageal Fistula|Esophageal Atresia/Tracheoesophageal Fistula|ESOPHAGEAL ATRESIA WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA|Tracheoesophageal fistula with or without esophageal atresia
C536649||Penis agenesis|Agenesis of the penis|Micropenis|Penis agenesia
C535317||47, XYY syndrome|47 XYY syndrome|Jacob&apos;s syndrome|XYY syndrome|YY syndrome
C535316||46,XX Gonadal dysgenesis epibulbar dermoid
D053448||Prostatism
C537978||Camurati Engelmann disease, type 2|Progressive diaphyseal dysplasia with striations of the bones
C535319||49,XXXXX syndrome|Chromosome X pentasomy|Chromosome XXXXX syndrome|Pentasomy X|Pentasomy X syndrome|Penta-X syndrome
D053447||Channelopathies|Channelopathy
C535318||Triple X syndrome|47,Xxx|47,XXX syndrome|Super female|Triple-X chromosome syndrome|Triple-X female|Triplo X syndrome|Trisomy X|XXX syndrome
C565148||Coxoauricular Syndrome
C565149||Spondylocostal Dysostosis 4, Autosomal Dominant|Costovertebral Segmentation Anomalies|Spondylocostal Dysplasia, Dominant Form|Spondylothoracic Dysostosis, Autosomal Dominant
C565144||Craniorhiny
C566476||Chromosome 17q21.31 Deletion Syndrome|17q21.31 Deletion Syndrome|17q21.31 Microdeletion Syndrome|Chromosome 17q21.31 Microdeletion Syndrome|Koolen-De Vries Syndrome|Koolen Syndrome|Microdeletion 17q21.31 Syndrome|Monosomy 17q21.31
C565147||Cranioacrofacial Syndrome
C563732|609340||Spastic Paraplegia 28, Autosomal Recessive|SPG28
148350|C536152||Keratoderma palmoplantar deafness|Diffuse palmoplantar keratoderma with deafness|Focal palmoplantar keratoderma with sensorineural deafness|Hereditary palmoplantar keratoderma with deafness|Keratoderma palmoplantar, with deafness|Keratoderma, Palmoplantar, With Deafness|Palmoplantar keratoderma and sensorineural deafness
609053|C563802||Fanconi Anemia, Complementation Group I|FANCI
D009336||Necrosis|Necroses
D009335||Necrobiosis Lipoidica|Diabeticorum, Necrobiosis Lipoidica|Necrobiosis Lipoidica Diabeticorum
D011654||Pulmonary Edema|Edema, Pulmonary|Edemas, Pulmonary|Lungs, Wet|Lung, Wet|Pulmonary Edemas|Wet Lung|Wet Lungs
D012560|605419||Schizophrenia, Catatonic|CATATONIA, PERIODIC|Catatonic Schizophrenia|Catatonic Schizophrenias|SCHIZOPHRENIA 10|Schizophrenias, Catatonic|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED|SCZD10
C537908||Barber Say syndrome|Barber-Say Syndrome|Hypertrichosis, atrophic skin, ectropion, and macrostomia
D010322||Parvoviridae Infections|Infection, Parvoviridae|Infection, Parvovirus|Infections, Parvoviridae|Infections, Parvovirus|Parvoviridae Infection|Parvovirus Infection|Parvovirus Infections
C537905||Baraitser Brett Piesowicz syndrome|Microcephaly intracranial calcification
D011656||Pulmonary Emphysema|Centriacinar Emphysema|Centriacinar Emphysemas|Centrilobular Emphysema|Centrilobular Emphysemas|Emphysema, Centriacinar|Emphysema, Centrilobular|Emphysema, Focal|Emphysema, Panacinar|Emphysema, Panlobular|Emphysema, Pulmonary|Emphysemas, Centriacinar|Emphysemas, Centrilobular|Emphysemas, Focal|Emphysemas, Panacinar|Emphysemas, Panlobular|Emphysemas, Pulmonary|Focal Emphysema|Focal Emphysemas|Panacinar Emphysema|Panacinar Emphysemas|Panlobular Emphysema|Panlobular Emphysemas|Pulmonary Emphysemas
C537906||Baraitser Rodeck Garner syndrome
D010324||Passive-Aggressive Personality Disorder|Disorder, Negativistic Personality|Disorder, Passive-Aggressive Personality|Disorders, Negativistic Personality|Disorders, Passive-Aggressive Personality|Negativistic Personality Disorder|Negativistic Personality Disorders|Passive-Aggressive Personalities|Passive Aggressive Personality|Passive-Aggressive Personality|Passive Aggressive Personality Disorder|Passive Aggressive Personality Disorders|Passive-Aggressive Personality Disorders|Personalities, Passive-Aggressive|Personality Disorder, Negativistic|Personality Disorder, Passive Aggressive|Personality Disorder, Passive-Aggressive|Personality Disorders, Negativistic|Personality Disorders, Passive Aggressive|Personality Disorders, Passive-Aggressive|Personality, Passive-Aggressive
D011655||Pulmonary Embolism|Embolism, Pulmonary|Embolisms, Pulmonary|Pulmonary Embolisms|Pulmonary Thromboembolism|Pulmonary Thromboembolisms|Thromboembolism, Pulmonary|Thromboembolisms, Pulmonary
D011658||Pulmonary Fibrosis|Alveolitides, Fibrosing|Alveolitis, Fibrosing|Fibroses, Pulmonary|Fibrosing Alveolitides|Fibrosing Alveolitis|Fibrosis, Pulmonary|Hamman Rich Syndrome|Hamman-Rich Syndrome|Pulmonary Fibroses|Syndrome, Hamman-Rich
D010326||Pasteurella Infections|Infection, Pasteurella|Infections, Pasteurella|Pasteurella Infection|Pasteurelloses|Pasteurellosis
D011657||Pulmonary Eosinophilia|Eosinophilia, Pulmonary|Eosinophilias, Pulmonary|Eosinophilic Pneumonia|Eosinophilic Pneumonias|Eosinophilic Pneumonias, Tropical|Eosinophilic Pneumonia, Tropical|Loeffler Syndrome|Pneumonia, Eosinophilic|Pneumonias, Eosinophilic|Pulmonary Eosinophilias|Pulmonary Eosinophilia, Simple|Simple Pulmonary Eosinophilia|Simple Pulmonary Eosinophilias|Syndrome, Loeffler|Tropical Eosinophilic Pneumonia|Tropical Eosinophilic Pneumonias
D008010||Lichen Planus|Lichen Ruber Planus|Lichen Rubra Planus
C537909||Bardet-Biedl syndrome 1
604091|D052456||Hypoalphalipoproteinemias|alpha Lipoprotein Deficiency Disease, Familial|alpha-Lipoprotein Deficiency Disease, Familial|alpha Lipoproteinemia, Hypo|Familial alpha Lipoprotein Deficiency Disease|Familial alpha-Lipoprotein Deficiency Disease|FAMILIAL HDL DEFICIENCY|Familial High Density Lipoprotein Deficiency Disease|Familial High-Density Lipoprotein Deficiency Disease|Familial Hypoalphalipoproteinemia|Familial Hypoalphalipoproteinemias|FHA|FHD|HDLC|HDL Cholesterol, Low Serum|HDLD|HDL Lipoprotein Deficiency Disease|HIGH DENSITY LIPOPROTEIN DEFICIENCY|High Density Lipoprotein Deficiency Disease, Familial|High-Density Lipoprotein Deficiency Disease, Familial|Hypoalphalipoproteinemia|Hypo alpha Lipoproteinemia|Hypoalphalipoproteinemia, Familial|Hypoalphalipoproteinemia, Primary|Hypo alpha Lipoproteinemias|Hypoalphalipoproteinemias, Familial|Hypoalphalipoproteinemias, Primary|Lipoprotein Deficiency Disease, HDL, Familial|Lipoproteinemia, Hypo alpha|Lipoproteinemias, Hypo alpha|Primary Hypoalphalipoproteinemias
C537900||Baker-Winegrad disease|Autosomal recessive fructose 1, 6-diphosphatase deficiency
C567438|612004||Thrombocytopenia 4|THC4|Thrombocytopenia, Autosomal Dominant, 4
C565153||Coronary Artery Dissection, Spontaneous
C566484||Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
C537903||Banti&apos;s syndrome|Banti&apos;s disease|Idiopathic congestive splenomegaly|Idiopathic portal hypertension
C537904||Bantu siderosis|African iron overload|Hereditary iron overload and African Americans|Iron overload in Africa
D012983||Soft Tissue Neoplasms|Neoplasm, Soft Tissue|Neoplasms, Soft Tissue|Soft Tissue Neoplasm
C566480||Microphthalmia, Isolated, with Cataract 4|MCOPCT4
C565150||Polydysspondyly
C566481||Cataract, Lamellar 2
C537902||Bangstad syndrome
C565155||Epithelial Recurrent Erosion Dystrophy|Corneal Erosions, Recurring Hereditary
C565156||Corneal Endothelial Dystrophy 1
C565157||Corneal Degeneration, Ribbonlike, with Deafness|Band Keratopathy with Deafness
128230|C538007||Dystonia, Dopa-responsive|Dopa-Responsive Dystonia|Dopa-responsive dystonia, autosomal dominant|DRD|Dystonia 5|Dystonia, Dopa-responsive, autosomal dominant|Dystonia-Parkinsonism with diurnal fluctuation|Dystonia, progressive, with diurnal variation|DYT5|Hereditary Progressive Dystonia with Marked Diurnal Fluctuation|Segawa syndrome, autosomal dominant
193900|D053529||Leukokeratosis, Hereditary Mucosal|Hereditary Mucosal Leukokeratoses|Hereditary Mucosal Leukokeratosis|Leukokeratoses, Hereditary Mucosal|LEUKOKERATOSIS, HEREDITARY MUCOSAL|Mucosal Leukokeratoses, Hereditary|Mucosal Leukokeratosis, Hereditary|WHITE SPONGE NEVUS 1|White Sponge Nevus of Cannon|WSN1
D009349||Nematode Infections|Infection, Nematode|Infections, Nematode|Nematode Infection
D009347||Nelson Syndrome
C537918||Femur fibula ulna syndrome|Femur-Fibula-Ulna Syndrome
D011665||Pulmonary Valve Insufficiency|Incompetence, Pulmonary Valve|Insufficiency, Pulmonary Valve|Pulmonary Regurgitation|Pulmonary Valve Incompetence|Pulmonary Valve Regurgitation|Regurgitation, Pulmonary|Regurgitation, Pulmonary Valve|Valve Incompetence, Pulmonary|Valve Insufficiency, Pulmonary|Valve Regurgitation, Pulmonary
C537916||Femoral facial syndrome|Femoral dysgenesis, bilateral|Femoral dysgenesis, bilateral-Robin anomaly|Femoral-Facial Syndrome|Femoral hypoplasia unusual facies syndrome|Femoral Hypoplasia-Unusual Facies Syndrome
C537917||Femur bifid with monodactylous ectrodactyly|Femur, Unilateral Bifid, With Monodactylous Ectrodactyly|Gollop-Wolfgang complex
D010335||Pathologic Processes|Pathological Processes|Processes, Pathologic|Processes, Pathological
D011666||Pulmonary Valve Stenosis|Pulmonary Stenose|Pulmonary Stenoses|Pulmonary Stenosis|Pulmonary Valve Stenoses|Pulmonic Stenoses|Pulmonic Stenoses, Valvular|Pulmonic Stenosis|Pulmonic Stenosis, Valvular|Stenose, Pulmonary|Stenoses, Pulmonary|Stenoses, Pulmonary Valve|Stenoses, Pulmonic|Stenosis, Pulmonary|Stenosis, Pulmonary Valve|Stenosis, Pulmonic|Valvular Pulmonic Stenoses|Valvular Pulmonic Stenosis
D010505|249100||Familial Mediterranean Fever|Benign Paroxysmal Peritonitides|Benign Paroxysmal Peritonitis|Disease, Periodic|Diseases, Periodic|Disease, Wolff Periodic|Disease, Wolff&apos;s Periodic|Familial Mediterranean Fever, Autosomal Recessive|Familial Paroxysmal Polyserositides|Familial Paroxysmal Polyserositis|FMF|Mediterranean Fever, Familial|Paroxysmal Peritonitides, Benign|Paroxysmal Peritonitis, Benign|Paroxysmal Polyserositides, Familial|Paroxysmal Polyserositis, Familial|Periodic Disease|Periodic Diseases|Periodic Disease, Wolff|Periodic Disease, Wolffs|Periodic Disease, Wolff&apos;s|Periodic Peritonitides|Periodic Peritonitis|Peritonitides, Benign Paroxysmal|Peritonitides, Periodic|Peritonitis, Benign Paroxysmal|Peritonitis, Periodic|Polyserositides, Familial Paroxysmal|Polyserositides, Recurrent|Polyserositis, Familial Paroxysmal|Polyserositis, Recurrent|Recurrent Polyserositides|Recurrent Polyserositis|Wolff Periodic Disease|Wolff&apos;s Periodic Disease|Wolffs Periodic Disease
C537910||Bardet-Biedl syndrome 2
C537911||Bardet-Biedl syndrome 3
C565164||Epilepsy, Benign Neonatal, 1|Convulsions, Benign Familial Neonatal, 1
C537303|609227||Griscelli syndrome type 3|Griscelli Syndrome, Type 3|GS3|Hypomelanosis with no immunologic or neurologic manifestations
C565165||C9 Deficiency|Complement Component 9 Deficiency
D011660||Pulmonary Heart Disease|Cor Pulmonale|Disease, Pulmonary Heart|Diseases, Pulmonary Heart|Heart Disease, Pulmonary|Heart Diseases, Pulmonary|Pulmonary Heart Diseases
C565160||Delayed Cranial Ossification due to CBFB Haploinsufficiency
C537912||Bardet-Biedl syndrome 4
C565161||Coracoclavicular Joint, Anomalous
C566492||Natural Killer Cell Deficiency, Familial Isolated
D011662||Pulmonary Subvalvular Stenosis|Conus, Obstructive Subaortic|Infundibular Stenoses, Pulmonary|Infundibular Stenosis, Pulmonary|Obstructive Subaortic Conus|Pulmonary Infundibular Stenoses|Pulmonary Infundibular Stenosis|Pulmonary Stenoses, Subvalvular|Pulmonary Stenosis, Subvalvular|Pulmonary Subvalvular Stenoses|Stenoses, Pulmonary Infundibular|Stenoses, Pulmonary Subvalvular|Stenoses, Subvalvular Pulmonary|Stenosis, Pulmonary Infundibular|Stenosis, Pulmonary Subvalvular|Stenosis, Subvalvular Pulmonary|Subaortic Conus, Obstructive|Subvalvular Pulmonary Stenoses|Subvalvular Pulmonary Stenosis|Subvalvular Stenoses, Pulmonary|Subvalvular Stenosis, Pulmonary
C565126||Darier Disease, Segmental
C566457||Short Stature And Facioauriculothoracic Malformations
C567789||Basal Cell Carcinoma, Nonsyndromic
C565127||Phenacetin O-Deethylase, Deficiency of
C563999|600105||Retinitis Pigmentosa 12|RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM|RP12|RP WITH OR WITHOUT PPRPE|RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM
C565122||Deafness, Mid-Tone Neural
218400|C536570||Craniometaphyseal dysplasia, autosomal recessive type|CMDR|Craniometaphyseal Dysplasia, Autosomal Recessive
C565123||Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy
C565125||Darier Disease, Acral Hemorrhagic Type
C567786||Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet|PGHS1 Deficiency|Platelet Cox1 Deficiency|Platelet Cyclooxygenase 1 Deficiency
D000987||Antisocial Personality Disorder|Antisocial Personalities|Antisocial Personality|Antisocial Personality Disorders|Behavior, Dyssocial|Behaviors, Dyssocial|Disorder, Antisocial Personality|Disorders, Antisocial Personality|Dyssocial Behavior|Dyssocial Behaviors|Personalities, Antisocial|Personalities, Psychopathic|Personalities, Sociopathic|Personality, Antisocial|Personality Disorder, Antisocial|Personality Disorders, Antisocial|Personality, Psychopathic|Personality, Sociopathic|Psychopathic Personalities|Psychopathic Personality|Sociopathic Personalities|Sociopathic Personality
C567861|612932||Glycogen Storage Disease XIII|Enolase 3 Deficiency|Enolase-Beta Deficiency|GSD13|GSD XIII
D010309||Parotitis|Parotiditides|Parotiditis|Parotitides
272750|D049290||Tay-Sachs Disease, AB Variant|AB Variant Gangliosidosis GM2|AB Variant GM2-Gangliosidoses|AB Variant GM2 Gangliosidosis|AB Variant GM2-Gangliosidosis|Activator Deficiencies, GM2|Activator Deficiencies, Hexosaminidase|Activator Deficiency, GM2|Activator Deficiency GM2 Gangliosidosis|Activator Deficiency, Hexosaminidase|Activator Deficient Tay Sachs Disease|Activator-Deficient Tay-Sachs Disease|Activator-Deficient Tay-Sachs Diseases|Deficiencies, GM2 Activator|Deficiencies, Hexosaminidase Activator|Deficiency Disease, GM2 Protein Activator|Deficiency, GM2 Activator|Deficiency, Hexosaminidase Activator|Disease, Activator-Deficient Tay-Sachs|Diseases, Activator-Deficient Tay-Sachs|Gangliosidosis GM2, AB Variant|Gangliosidosis GM2, Type AB|GM2 Activator Deficiencies|GM2 Activator Deficiency|GM2 Activator Deficiency Disease|GM2-Gangliosidoses, AB Variant|GM2 Gangliosidosis, AB Variant|GM2-Gangliosidosis, AB Variant|GM2 Gangliosidosis, Type AB|GM2 Protein Activator Deficiency Disease|Hexosaminidase Activator Deficiencies|Hexosaminidase Activator Deficiency|Hexosaminidase Activator Protein Deficiency Disease|Tay Sachs Disease, AB Variant|TAY-SACHS DISEASE, AB VARIANT|Tay-Sachs Disease, Activator-Deficient|Tay-Sachs Diseases, Activator-Deficient|Variant GM2-Gangliosidoses, AB|Variant GM2-Gangliosidosis, AB
C567467|300719||Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
C537929||Fibromuscular dysplasia of arteries
D010301||Parkinson Disease, Postencephalitic|Economo-Type Parkinsonism, Postencephalitic|Encephalitis Lethargica Type Parkinsonism|Meningoencephalitic Parkinsonism, Viral|Parkinson Disease, Post Encephalitic|Parkinson Disease, Post-Encephalitic|Parkinsonian Syndrome, Postencephalitis|Parkinsonism, Postencephalitic|Parkinsonism, Postencephalitic Economo-Type|Parkinsonisms, Viral Meningoencephalitic|Parkinsonism, Viral Meningoencephalitic|Postencephalitic Economo Type Parkinsonism|Postencephalitic Economo-Type Parkinsonism|Postencephalitic Parkinson Disease|Post Encephalitic Parkinson Disease|Post-Encephalitic Parkinson Disease|Postencephalitic Parkinsonism|Postencephalitis Parkinsonian Syndrome|Viral Meningoencephalitic Parkinsonism|von Economo Encephalitis Type Parkinsonism
D010300||Parkinson Disease|Idiopathic Parkinson Disease|Idiopathic Parkinson&apos;s Disease|Lewy Body Parkinson Disease|Lewy Body Parkinson&apos;s Disease|Paralysis Agitans|Parkinson Disease, Idiopathic|Parkinsonism, Primary|Parkinson&apos;s Disease|Parkinson&apos;s Disease, Idiopathic|Parkinson&apos;s Disease, Lewy Body|Primary Parkinsonism
309630||METACARPAL 4-5 FUSION|MF4
C537927||Fibrocartilaginous embolism|Embolism, fibrocartilaginous
D010302||Parkinson Disease, Secondary|Atherosclerotic Parkinsonism|Parkinson Disease, Secondary Vascular|Parkinson Disease, Symptomatic|Parkinsonism, Atherosclerotic|Parkinsonism, Secondary|Parkinsonism, Symptomatic|Secondary Parkinson Disease|Secondary Parkinsonism|Secondary Vascular Parkinson Disease|Symptomatic Parkinson Disease|Symptomatic Parkinsonism
D010305||Parotid Diseases|Disease, Parotid|Diseases, Parotid|Parotid Disease
D010304||Paronychia|Paronychias
D010307||Parotid Neoplasms|Cancer of Parotid|Cancer of the Parotid|Cancer, Parotid|Cancers, Parotid|Neoplasm, Parotid|Neoplasms, Parotid|Parotid Cancer|Parotid Cancers|Parotid Neoplasm
C538285|115665||Cataract congenital Volkmann type|CATARACT 8, MULTIPLE TYPES|Cataract, Congenital, Volkmann Type|CCV|CTRCT8
C537921||Fetal akinesia syndrome, X-linked|Brain malformation, growth retardation, hypokinesia and polyhydramnios|Fetal akinesia syndrome X-linked|Holmes Benacerraf syndrome|X-linked form of fetal akinesia syndrome
C565130||Cataract, Progressive Polymorphic Cortical
C537922||Fetal hydantoin syndrome|Dilantin Embryopathy|Phenytoin Embryopathy
C565131||Cataract, Punctate, Progressive Juvenile-Onset
C565132||Cataract, Variable Zonular Pulverulent
C536858|275900||Spastic paraplegia 20, autosomal recessive|Cross-McKusick syndrome|Spastic paraparesis, childhood onset, with distal muscle wasting|Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting|Spastic paraplegia, autosomal recessive, Troyer type|Spastic paraplegia with distal muscle wasting|SPG20|Troyer syndrome
C565137||Cataract, Autosomal Dominant Nuclear
241850|C537901||Bamforth syndrome|Bamforth-Lazarus syndrome|BAMFORTH-LAZARUS SYNDROME HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE, INCLUDED|Hypothyroidism, athyroidal, with spiky hair and cleft palate|Hypothyroidism cleft palate|Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate
C565138||Cryptophthalmos, Unilateral or Bilateral, Isolated|Ankyloblepharon, Simple|Cryptophthalmos with Microphthalmia and Peters Anomaly
C565134||Cataract, Posterior Polar, 2
C537940||Chromosome 8, mosaic trisomy|Trisomy 8 Mosaicism|Uniparental disomy of 8
C565135||Cataract, Zonular Central Nuclear
C565136||Cataract, Autosomal Recessive Congenital 1
C566483|610024||Retinal Cone Dystrophy 3A|ACHM6, INCLUDED|Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related|CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6, INCLUDED|RCD3A
D010319||Parturient Paresis|Animal Milk Fever|Fever, Animal Milk|Milk Fever, Animal|Pareses, Parturient|Paresis, Parturient|Parturient Pareses
D064128||Nodding Syndrome|Nodding Syndromes|Syndrome, Nodding|Syndromes, Nodding
D009325||Nausea
D064129||Prostatic Neoplasms, Castration-Resistant|Androgen Independent Prostatic Cancer|Androgen-Independent Prostatic Cancer|Androgen-Independent Prostatic Cancers|Androgen-Independent Prostatic Neoplasm|Androgen Independent Prostatic Neoplasms|Androgen-Independent Prostatic Neoplasms|Androgen Insensitive Prostatic Cancer|Androgen-Insensitive Prostatic Cancer|Androgen-Insensitive Prostatic Cancers|Androgen-Insensitive Prostatic Neoplasm|Androgen Insensitive Prostatic Neoplasms|Androgen-Insensitive Prostatic Neoplasms|Androgen Resistant Prostatic Cancer|Androgen-Resistant Prostatic Cancer|Androgen-Resistant Prostatic Cancers|Androgen-Resistant Prostatic Neoplasm|Androgen Resistant Prostatic Neoplasms|Androgen-Resistant Prostatic Neoplasms|Cancer, Androgen-Independent Prostatic|Cancer, Androgen-Insensitive Prostatic|Cancer, Androgen-Resistant Prostatic|Cancer, Castration-Resistant Prostatic|Cancers, Androgen-Independent Prostatic|Cancers, Androgen-Insensitive Prostatic|Cancers, Androgen-Resistant Prostatic|Cancers, Castration-Resistant Prostatic|Castration Resistant Prostatic Cancer|Castration-Resistant Prostatic Cancer|Castration-Resistant Prostatic Cancers|Castration-Resistant Prostatic Neoplasm|Castration Resistant Prostatic Neoplasms|Castration-Resistant Prostatic Neoplasms|Hormone Refractory Prostatic Cancer|Hormone Refractory Prostatic Neoplasms|Neoplasm, Androgen-Independent Prostatic|Neoplasm, Androgen-Insensitive Prostatic|Neoplasm, Androgen-Resistant Prostatic|Neoplasm, Castration-Resistant Prostatic|Neoplasms, Androgen-Independent Prostatic|Neoplasms, Androgen-Insensitive Prostatic|Neoplasms, Androgen-Resistant Prostatic|Neoplasms, Castration-Resistant Prostatic|Prostatic Cancer, Androgen Independent|Prostatic Cancer, Androgen-Independent|Prostatic Cancer, Androgen Insensitive|Prostatic Cancer, Androgen-Insensitive|Prostatic Cancer, Androgen Resistant|Prostatic Cancer, Androgen-Resistant|Prostatic Cancer, Castration Resistant|Prostatic Cancer, Castration-Resistant|Prostatic Cancer, Hormone Refractory|Prostatic Cancers, Androgen-Independent|Prostatic Cancers, Androgen-Insensitive|Prostatic Cancers, Androgen-Resistant|Prostatic Cancers, Castration-Resistant|Prostatic Neoplasm, Androgen-Independent|Prostatic Neoplasm, Androgen-Insensitive|Prostatic Neoplasm, Androgen-Resistant|Prostatic Neoplasm, Castration-Resistant|Prostatic Neoplasms, Androgen Independent|Prostatic Neoplasms, Androgen-Independent|Prostatic Neoplasms, Androgen Insensitive|Prostatic Neoplasms, Androgen-Insensitive|Prostatic Neoplasms, Androgen Resistant|Prostatic Neoplasms, Androgen-Resistant|Prostatic Neoplasms, Castration Resistant|Prostatic Neoplasms, Hormone Refractory
C536609||Familial capillaro-venous leptomeningeal angiomatosis
C537938||Fitzsimmons-Guilbert syndrome|Fitzsimmons syndrome|Spastic paraplegia associated with brachydactyly type E
D011645||Puerperal Infection|Infection, Puerperal|Infections, Puerperal|Puerperal Infections
D009332||Necatoriasis|Necatoriases
C537939||Boudhina Yedes Khiari syndrome
C536608||Fallot complex with severe mental and growth retardation|Bindewald Ulmer Muller syndrome
D011644||Puerperal Disorders|Disorder, Puerperal|Disorders, Puerperal|Puerperal Disorder
C537218|268700||Saccharopinuria|Alpha-aminoadipic semialdehyde synthase deficiency|HYPERLYSINEMIA, TYPE II|Saccharopine dehydrogenase deficiency
C554497||Non-AIDS-related Kaposi sarcoma
D011649||Pulmonary Alveolar Proteinosis|Alveolar Proteinoses, Pulmonary|Alveolar Proteinosis, Pulmonary|Proteinoses, Pulmonary Alveolar|Proteinosis, Pulmonary Alveolar|Pulmonary Alveolar Proteinoses
D011648||Pulmonary Adenomatosis, Ovine|Adenomatoses, Ovine Pulmonary|Adenomatoses, Pulmonary Ovine|Adenomatosis, Ovine Pulmonary|Adenomatosis, Pulmonary Ovine|Adenomatosis, Pulmonary, Ovine|Carcinoma, Ovine Pulmonary|Carcinomas, Ovine Pulmonary|Jaagsiekte|Ovine Adenomatoses, Pulmonary|Ovine Adenomatosis, Pulmonary|Ovine Pulmonary Adenomatoses|Ovine Pulmonary Adenomatosis|Ovine Pulmonary Carcinoma|Ovine Pulmonary Carcinomas|Pulmonary Adenomatoses, Ovine|Pulmonary Carcinoma, Ovine|Pulmonary Carcinomas, Ovine|Pulmonary Ovine Adenomatoses|Pulmonary Ovine Adenomatosis
C554498||AIDS-related Kaposi sarcoma
C565140||Cryptotia, Familial
D053489||Mink Viral Enteritis|Enteritides, Mink Viral|Enteritis, Infectious, of Mink|Enteritis, Mink Viral|Mink Viral Enteritides|Viral Enteritides, Mink|Viral Enteritis, Mink
C565141||Cryoglobulinemia, Familial Mixed|Meltzer Syndrome
C537933||Fine-Lubinsky syndrome|Brachycephaly, deafness, cataract and mental retardation|Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
C565142||Cryofibrinogenemia, Familial Primary
C537930||Fibular aplasia ectrodactyly|Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
C565143||Creutzfeldt-Jakob Disease, Sporadic
C537987|607734||Charcot-Marie-Tooth disease, Type 1F|Charcot-Marie-Tooth disease, demyelinating, Type 1F|Charcot-Marie-Tooth Neuropathy, Type 1f|CMT1f|CMT 1F
C537936||Fitz-Hugh-Curtis syndrome|Gonococcal Perihepatitis|Perihepatitis Syndrome
C537937||Fitzsimmons Walson Mellor syndrome
C536606||Amelogenesis Imperfecta hypomaturation type
D010310||Parovarian Cyst|Cyst, Paratubal|Cyst, Parovarian|Cysts, Paratubal|Cysts, Parovarian|Hydatid Cyst of Morgagni|Hydatid of Morgagni|Morgagni Hydatid|Morgagni Hydatid Cyst|Morgagni Hydatid Cysts|Morgagni Hydatids|Paratubal Cyst|Paratubal Cysts|Parovarian Cysts
C566314||Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
C566311||Adenosine Triphosphatase Deficiency, Anemia Due To
C531690||Potassium and magnesium depletion
C567644||Chondrodysplasia, Megarbane-Dagher-Melki Type
C531691||Platelet granule deficiency disorder
D010409||Penile Diseases|Disease, Penile|Disease, Penis|Diseases, Penile|Diseases, Penis|Penile Disease|Penis Disease|Penis Diseases
C566319||Acropectorovertebral Dysplasia, F-Form|ACRPV
128235|C538001||Dystonia 12|Dystonia-Parkinsonism, Rapid-Onset|Dyt12|Rapid-onset dystonia-parkinsonism|Rapid-Onset Dystonia Parkinsonism|RDP
D009422||Nervous System Diseases|Disease, Nervous System|Diseases, Nervous System|Disorder, Nervous System|Disorder, Neurologic|Disorder, Neurological|Disorders, Nervous System|Disorders, Neurologic|Disorders, Neurological|Nervous System Disease|Nervous System Disorder|Nervous System Disorders|Neurological Disorder|Neurological Disorders|Neurologic Disorder|Neurologic Disorders
D009421||Nervous System Malformations|Abnormalities, Congenital, Nervous System|Abnormalities, Nervous System|Abnormality, Nervous System|Anomalies, Nervous System|Anomaly, Nervous System|Congenital Abnormalities, Nervous System|Congenital Anomalies, Nervous System|Congenital Malformations, Nervous System|Cranioschises|Cranioschisis|Malformation, Nervous System|Malformations, Nervous System|Malformations, Nervous System, Congenital|Nervous System Abnormalities|Nervous System Abnormality|Nervous System Anomalies|Nervous System Anomaly|Nervous System Congenital Abnormalities|Nervous System Congenital Malformations|Nervous System Malformation|Nervous System Malformations, Congenital
C581942||Hemoglobin M Disease
C536657|142680||Periodic fever, familial, autosomal dominant|Autosomal Dominant Familial Periodic Fever|Familial Hibernian fever|FHF|FPF|Hibernian Familial Fever|Hibernian fever, familial|TNF receptor-associated periodic syndrome|TRAPS|Tumor necrosis factor receptor-associated periodic syndrome
604588||NEVER IN MITOSIS GENE A-RELATED KINASE 1|KIAA1901|NEK1|NIMA-RELATED KINASE 1
C531684||Hereditary spinal ataxia
C563716|609456||Muscular Dystrophy, Congenital, Merosin-Positive
C531689||Acute cerebral Gaucher disease
C566325||Saethre-Chotzen Syndrome with Eyelid Anomalies
C567657||Pitt-Hopkins-Like Syndrome 1|PTHSL1
C566327||Vogt Cephalodactyly
C567658||Polymicrogyria, Asymmetric
C566321||Pituitary Adenoma, Familial Isolated|Pituitary Adenoma Predisposition
C565708|610189||Senior-Loken Syndrome 6|SLSN6
C566322||Acroleukopathy, Symmetric
C566323||Acrokeratoderma, Hereditary Papulotranslucent
C536984|610156||MORM syndrome|Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis|Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis|MORM SYNDROME
C565297|605750||Exudative Vitreoretinopathy 3|EVR3
D009423||Nervous System Neoplasms|Neoplasm, Nervous System|Neoplasms, Nervous System|Nervous System Neoplasm|Nervous System Tumor|Nervous System Tumors|Tumor, Nervous System|Tumors, Nervous System|Tumors of the Nervous System
D010411||Penile Induration|Cavernitides, Fibrous|Cavernitis, Fibrous|Fibromatosis, Penile|Fibrous Cavernitides|Fibrous Cavernitis|Penile Fibromatosis|Peyronie Disease|Peyronie&apos;s Disease|Peyronies Disease|Plastic Induration of the Penis
D008101||Liver Abscess, Amebic|Abscess, Amebic, Hepatic|Abscess, Amebic Liver|Abscess, Amoebic Hepatic|Abscess, Amoebic Liver|Abscesses, Amebic Liver|Abscesses, Amoebic Hepatic|Abscesses, Amoebic Liver|Abscess, Hepatic, Amebic|Abscess, Liver, Amebic|Amebiasis, Hepatic|Amebic Liver Abscess|Amebic Liver Abscesses|Amoebiasis, Hepatic|Amoebic Hepatic Abscess|Amoebic Hepatic Abscesses|Amoebic Liver Abscess|Amoebic Liver Abscesses|Entamoebiases, Hepatic|Entamoebiasis, Hepatic|Hepatic Abscess, Amoebic|Hepatic Abscesses, Amoebic|Hepatic Amebiasis|Hepatic Amoebiasis|Hepatic Entamoebiases|Hepatic Entamoebiasis|Liver Abscess, Amoebic|Liver Abscesses, Amebic|Liver Abscesses, Amoebic
D010412||Penile Neoplasms|Cancer of Penis|Cancer of the Penis|Cancer, Penile|Cancer, Penis|Cancers, Penile|Cancers, Penis|Neoplasm, Penile|Neoplasm, Penis|Neoplasms, Penile|Neoplasms, Penis|Penile Cancer|Penile Cancers|Penile Neoplasm|Penis Cancer|Penis Cancers|Penis Neoplasm|Penis Neoplasms
D008100||Liver Abscess|Abscesses, Hepatic|Abscesses, Liver|Abscess, Hepatic|Abscess, Liver|Hepatic Abscess|Hepatic Abscesses|Liver Abscesses
C565329|605428||Deafness, Autosomal Recessive 26|DFNB26
D047708||Myofibroma|Myofibromas
C535309|210210||3-methylcrotonyl CoA carboxylase 2 deficiency|3 alpha methylcrotonyl-coa carboxylase 2 deficiency|3 alpha methylcrotonylglycinuria 2|3-Methylcrotonyl-CoA Carboxylase 2 Deficiency|3-Methylcrotonylglycinuria II|MCC2 Deficiency|methylcrotonoyl-CoA carboxylase 2 deficiency|Methylcrotonylglycinuria type 2|Methylcrotonylglycinuria, Type II
D058497|219000||Fraser Syndrome|Cryptophthalmos Syndactyly Syndrome|Cryptophthalmos-Syndactyly Syndrome|Cryptophthalmos-Syndactyly Syndromes|Cryptophthalmos with Other Malformations|CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED|Syndrome, Cryptophthalmos-Syndactyly|Syndrome, Fraser
C567661||Progeria Syndrome, Childhood-Onset
C531698||Intestinal helminthiasis
C531699||Hb C disease
C567624||Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
C567626||Chromosome 3q29 Duplication Syndrome|Microduplication 3q29 Syndrome
C567620||Vertigo, Benign Recurrent, 1
C567762|613090||Bartter Syndrome, Type 4b|Bartter Syndrome, Infantile, with Sensorineural Deafness
123320||CREATINE PHOSPHOKINASE, ELEVATED SERUM|CPK, ELEVATED SERUM|HYPERCKEMIA, IDIOPATHIC
C567627||Musician&apos;s Dystonia
D009400||Nephrosclerosis|Nephroscleroses
D011711||Pyoderma|Pyodermas
C566304||alpha-2-Macroglobulin Deficiency
C563676|610359||Retinitis Pigmentosa 33|RP33
C566305||Dysalbuminemic Hyperthyroxinemia|Hyperthyroxinemia, Dysalbuminemic
C566300||alpha-Fetoprotein Deficiency
C566301||Alopecia, Familial Focal
C567633||Emery-Dreifuss Muscular Dystrophy, Atypical, Autosomal Recessive|Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
C567632||Growth Hormone Deficiency With Pituitary Anomalies|Pituitary Hormone Deficiency, Combined, 5
D047728||Myopia, Degenerative|Degenerative Myopia|Degenerative Myopias|Myopia, Pathological|Myopia, Progressive|Myopias, Degenerative|Myopias, Pathological|Myopias, Progressive|Pathological Myopia|Pathological Myopias|Progressive Myopia|Progressive Myopias
D009408||Nerve Compression Syndromes|Compression Syndrome, Nerve|Compression Syndromes, Nerve|Entrapment, Nerve|Entrapment Neuropathies|Entrapments, Nerve|External Nerve Compression Syndromes|Internal Nerve Compression Syndromes|Nerve Compression Syndrome|Nerve Compression Syndromes, External|Nerve Compression Syndromes, Internal|Nerve Entrapment|Nerve Entrapments|Neuropathies, Entrapment|Neuropathy, Entrapment|Syndrome, Nerve Compression|Syndromes, Nerve Compression
C566307||Alacrima, Congenital|Alacrimia Congenita
D009404||Nephrotic Syndrome|Nephrotic Syndromes|Syndrome, Nephrotic|Syndromes, Nephrotic
C566308||Hypoglossia-Hypodactylia|Aglossia-Adactylia|Oromandibular Limb Hypoplasia|Peromelia with Micrognathism
135150|D058249||Birt-Hogg-Dube Syndrome|BHD|Birt Hogg Dube Syndrome|Birt-Hogg-Dub&#233; Syndrome|Fibrofolliculomas with Trichodiscomas and Acrochordons|Hornstein-Birt-Hogg-Dub&#233; Syndrome|Hornstein-Knickenberg Syndrome
C566309||Adenine Nucleotide Translocator Deficiency
D009402||Nephrosis, Lipoid|Change Diseases, Minimal|Disease, Minimal Change|Diseases, Minimal Change|Glomerulonephritides, Minimal Change|Glomerulonephritis, Minimal Change|Glomerulopathies, Minimal Change|Glomerulopathy, Minimal Change|Idiopathic Minimal Change Nephrotic Syndrome|Lipoid Nephroses|Lipoid Nephrosis|Minimal Change Disease|Minimal Change Diseases|Minimal Change Glomerulonephritides|Minimal Change Glomerulonephritis|Minimal Change Glomerulopathy|Minimal Change Nephropathies|Minimal Change Nephropathy|Minimal Change Nephrotic Syndrome|Nephropathies, Minimal Change|Nephropathy, Minimal Change|Nephroses, Lipoid|Nephrotic Syndrome, Minimal Change
D009401||Nephrosis|Nephroses
C563959|600319||Diabetes Mellitus, Insulin-Dependent, 4|IDDM4|Insulin-Dependent Diabetes Mellitus 4
D009410||Nerve Degeneration|Degeneration, Nerve|Degeneration, Neuron|Degenerations, Nerve|Degenerations, Neuron|Nerve Degenerations|Neuron Degeneration|Neuron Degenerations
251880||MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)|MTDPS3
D059707||Aliivibrio Infections|Aliivibrio Infection|Infection, Aliivibrio|Infections, Aliivibrio
C562440|241510||Hypophosphatasia, Childhood
C563895|608627||Amyotrophic Lateral Sclerosis 8|ALS8
C567602||Refsum Disease, Adult, 1
C567601||Gm2-Gangliosidosis, Variant B1
611134|C567003||Meckel Syndrome, Type 4|Meckel-Gruber Syndrome, Type 4|MECKEL-GRUBER SYNDROME, TYPE 4 MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED|MKS4
C567603||Refsum Disease, Adult, 2
C564508|300475||Contiguous Abcd1/Dxs1375e Deletion Syndrome|CADDS, INCLUDED|CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED|DDCH|DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
C535456|259680||Chronic recurrent multifocal osteomyelitis|Chronic multifocal osteomyelitis|CMO|CRMO|Multifocal osteomyelitis, chronic|Osteomyelitis, Chronic Multifocal
D060705||Dyscalculia|Acalculia|Acalculias|Acalculia, Secondary|Acalculias, Secondary|Acquired Dyscalculia|Acquired Dyscalculias|Developmental Dyscalculia|Developmental Dyscalculias|Dyscalculia, Acquired|Dyscalculia, Developmental|Dyscalculia, Primary|Dyscalculias|Dyscalculias, Acquired|Dyscalculias, Developmental|Dyscalculias, Primary|Primary Dyscalculia|Primary Dyscalculias|Secondary Acalculia|Secondary Acalculias
C567608||Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive
601367|D002544||Cerebral Infarction|Anterior Choroidal Artery Infarction|CEREBRAL INFARCTION|Cerebral Infarction, Left Hemisphere|Cerebral Infarction, Right Hemisphere|Cerebral Infarctions|Cerebral, Left Hemisphere, Infarction|Cerebral, Right Hemisphere, Infarction|CEREBROVASCULAR ACCIDENT|Infarction, Cerebral|Infarction, Cerebral, Left Hemisphere|Infarction, Cerebral, Right Hemisphere|Infarction, Left Hemisphere, Cerebral|Infarction, Right Hemisphere, Cerebral|Infarctions, Cerebral|Infarctions, Subcortical|Infarction, Subcortical|Left Hemisphere, Cerebral Infarction|Left Hemisphere, Infarction, Cerebral|Posterior Choroidal Artery Infarction|Right Hemisphere, Cerebral Infarction|Right Hemisphere, Infarction, Cerebral|STROKE, ISCHEMIC|Subcortical Infarction|Subcortical Infarctions
C531647||Caroli disease isolated|Caroli Disease, Isolated|Congenital polycystic dilatation of intrahepatic bile ducts|Cystic dilatation of the intrahepatic biliary tree
C531649||Neutropenia and hyperlymphocytosis with large granular lymphocytes|Chediak-Steinbrinck-Higashi, syndrome
211800|C565891||Calcification of Joints and Arteries|ACDC|ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73|CALJA
D015299||Discitis|Discitides|Diskitides|Diskitis|Spondylodiscitides|Spondylodiscitis|Spondylodiskitides|Spondylodiskitis
C531641||Monday morning fever
604547||VAN DER WOUDE SYNDROME 1, MODIFIER OF|VWSM
C531642||Familial vascular leukoencephalopathy
C563669|610419||Deafness, Autosomal Recessive 68|DFNB68
C567614||Demyer Sequence
D011705||Pyelonephritis, Xanthogranulomatous|Pyelonephritides, Xanthogranulomatous|Xanthogranulomatous Pyelonephritides|Xanthogranulomatous Pyelonephritis
D047748||Pituitary ACTH Hypersecretion|ACTH Hypersecretion, Pituitary|Adrenocorticotropic Hormone, Inappropriate Secretion|Cushing Disease|Cushing Disease, Pituitary|Cushing Diseases, Pituitary|Cushing Syndrome, Pituitary|Cushing Syndrome, Pituitary-Dependant|Disease, Cushing|Hypercortisolism Disorder, Pituitary-Dependant|Hypercortisolism Disorders, Pituitary-Dependant|Hypercortisolism, Pituitary-Dependant|Hypercortisolisms, Pituitary-Dependant|Hypersecretion, Pituitary ACTH|Inappropriate ACTH Secretion Syndrome|Inappropriate Adrenocorticotropic Hormone Secretion|Pituitary Cushing Disease|Pituitary Cushing Diseases|Pituitary Cushing Syndrome|Pituitary Dependant Cushing Syndrome|Pituitary-Dependant Cushing Syndrome|Pituitary Dependant Hypercortisolism|Pituitary-Dependant Hypercortisolism|Pituitary Dependant Hypercortisolism Disorder|Pituitary-Dependant Hypercortisolism Disorder|Pituitary-Dependant Hypercortisolism Disorders|Pituitary-Dependant Hypercortisolisms
D011707||Pyloric Stenosis|Stenosis, Pyloric
D011702||Pyelitis
D011704||Pyelonephritis|Necrotizing Pyelonephritis|Pyelonephritides|Pyelonephritis, Acute Necrotizing
C531652||TCD
C564703|606482||Charcot-Marie-Tooth Disease, Dominant Intermediate B|Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2m|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M, INCLUDED|Charcot-Marie-Tooth Disease, Axonal, Type 2m|Charcot-Marie-Tooth Disease, Dominant Intermediate B, With Neutropenia|CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2m|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M, INCLUDED|Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B|CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED|Cmt2m|CMT2M, INCLUDED|CMTDI1|CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, INCLUDED|CMTDIB|DI-CMTB
C531654||Congenital chylous ascites
242600|C536285||Iminoglycinuria
C537005|609536||Complement component 5 deficiency|C5D|C5 DEFICIENCY|Dysfunction of the fifth component of complement (C5)|Leiner disease
135300||FIBROMATOSIS, GINGIVAL, 1|FIBROMATOSIS, GINGIVAL, HEREDITARY|GGF1|GINGF|GINGF1|HGF
D060725||Uterine Retroversion|Gravid Uterus, Retroverted|Incarcerated Retroverted Uterus|Retroflexed Uterus|Retroflexions, Uterine|Retroflexion, Uterine|Retroversions, Uterine|Retroversion, Uterine|Retroverted Gravid Uterus|Retroverted Uterus|Retroverted Uterus, Incarcerated|Tipped Uterus|Uterine Retroflexion|Uterine Retroflexions|Uterine Retroversions|Uterus, Incarcerated Retroverted|Uterus, Retroflexed|Uterus, Retroverted|Uterus, Retroverted Gravid|Uterus, Tipped
C537377|265000||Multiple pterygium syndrome|Escobar syndrome|EVMPS|Familial Pterygium Syndrome|Lethal multiple pterygium syndrome|MULTIPLE PTERYGIUM SYNDROME|Multiple Pterygium Syndrome, Escobar Variant|Multiple pterygium syndrome lethal type|Multiple Pterygium Syndrome, Lethal Type|Multiple Pterygium Syndrome, Nonlethal Type|Pterygium colli syndrome|Pterygium Multiple syndrome, lethal type|Pterygium syndrome|Pterygium syndrome, multiple|Pterygium Syndrome, Multiple, Lethal Type|Pterygium universale
C538262|255960||Atrial myxoma, familial|ATRIAL MYXOMA, FAMILIAL|Intracardiac myxoma|Myxoma, Intracardiac
C531660||Generalized elastolysis
C531662||Submacular Cysticercosis
D015275||Tumor Lysis Syndrome|Syndromes, Tumor Lysis|Syndromes, Tumour Lysis|Syndrome, Tumor Lysis|Syndrome, Tumour Lysis|Tumor Lysis Syndromes|Tumour Lysis Syndrome|Tumour Lysis Syndromes
121300|D046349||Coproporphyria, Hereditary|Coproporphyrinogen Oxidase Deficiency|CPO DEFICIENCY|CPOX DEFICIENCY|CPX DEFICIENCY HARDEROPORPHYRIA, INCLUDED|Deficiency, Coproporphyrinogen Oxidase|HCP|Hereditary Coproporphyria
C531664||Cystinuria type 1
181350|D020389||Muscular Dystrophy, Emery-Dreifuss|Autosomal Dominant Emery Dreifuss Muscular Dystrophy|Autosomal Dominant Emery-Dreifuss Muscular Dystrophy|Autosomal Recessive Emery Dreifuss Muscular Dystrophy|Autosomal Recessive Emery-Dreifuss Muscular Dystrophy|Benign Scapuloperoneal Muscular Dystrophy with Early Contractures|EDMD1|EDMD2|EDMD3, INCLUDED|EDMD4|EDMD5|EMD1|EMD2|Emery Dreifuss Muscular Dystrophy|Emery-Dreifuss Muscular Dystrophy|Emery Dreifuss Muscular Dystrophy, 1|Emery-Dreifuss Muscular Dystrophy, 1|EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED|Emery Dreifuss Muscular Dystrophy 2|Emery-Dreifuss Muscular Dystrophy 2|EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT|EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED|EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT|EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES|EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT|Emery Dreifuss Muscular Dystrophy, Autosomal Dominant|Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant|Emery Dreifuss Muscular Dystrophy, Autosomal Recessive|Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive|Emery Dreifuss Muscular Dystrophy, X Linked|Emery-Dreifuss Muscular Dystrophy, X-Linked|Emery Dreifuss Syndrome|Emery-Dreifuss Syndrome|Emery-Dreifuss Type Muscular Dystrophy|Hauptmann Thannhauser Muscular Dystrophy|Hauptmann-Thannhauser Muscular Dystrophy|HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE, INCLUDED|HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY|Muscular Dystrophy, Emery Dreifuss|Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant|Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive|Muscular Dystrophy, Emery-Dreifuss Type|Muscular Dystrophy, Emery-Dreifuss, X-Linked|Muscular Dystrophy, Scapuloperoneal|MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES|Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant|MYH7-Related Scapuloperoneal Myopathy|Myopathy, MYH7-Related Scapuloperoneal|Scapuloilioperoneal Atrophy with Cardiopathy|Scapuloperoneal Muscular Dystrophy|Scapuloperoneal Myopathy, MYH7 Related|Scapuloperoneal Myopathy, MYH7-Related|Scapuloperoneal Syndrome, X Linked|Scapuloperoneal Syndrome, X-Linked|SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY|X Linked Emery Dreifuss Muscular Dystrophy|X-Linked Emery-Dreifuss Muscular Dystrophy|X-Linked Scapuloperoneal Syndrome
C531665||Opalescent dentin|Capdepont Teeth|Dentinogenesis Imperfecta 1|Dentinogenesis Imperfecta, Shields Type Ii
D058405||Desmoplastic Small Round Cell Tumor|Desmoplastic Small Cell Tumor|Desmoplastic Small-Cell Tumor|Desmoplastic Small-Cell Tumors|Desmoplastic Small Round-Cell Tumor|Small-Cell Tumor, Desmoplastic|Small-Cell Tumors, Desmoplastic|Tumor, Desmoplastic Small-Cell|Tumors, Desmoplastic Small-Cell
C531667||5 alpha Fluorouracil toxicity
C537743|258100||Oguchi disease|CSNBO1|CSNBO2|NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1|NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2|Oguchi Disease 1|OGUCHI DISEASE 2|Stationary night blindness, Oguchi type
D006111|275000||Graves Disease|Basedow Disease|Basedow&apos;s Disease|Basedows Disease|Disease, Basedow|Disease, Basedow&apos;s|Disease, Graves|Disease, Graves&apos;|Exophthalmic Goiter|Exophthalmic Goiters|Goiter, Exophthalmic|Goiters, Exophthalmic|Graves&apos; Disease|GRAVES DISEASE, SUSCEPTIBILITY TO, 2|GRD|GRD1, INCLUDED|GRD2|Hyperthyroidism, Autoimmune|HYPERTHYROIDISM, AUTOIMMUNE GRAVES DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED|THYROTOXICOSIS
C536655|261650||Phosphoenolpyruvate carboxykinase 2 deficiency|PCK2 DEFICIENCY|PEPCK2 DEFICIENCY|PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL
C563391|601086||Laterality Defects, Autosomal Dominant
D060737||Reproductive Tract Infections|Genital Tract Infection|Genital Tract Infections|Infection, Genital Tract|Infection, Reproductive Tract|Infections, Genital Tract|Infections, Reproductive Tract|Reproductive Tract Infection
C567192|612718||Arginine:Glycine Amidinotransferase Deficiency|AGAT Deficiency|ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY AGAT DEFICIENCY|CCDS3|CEREBRAL CREATINE DEFICIENCY SYNDROME 3|Creatine Deficiency Syndrome due to AGAT Deficiency|GATM DEFICIENCY|L-Arginine:Glycine Aminidotransferase Deficiency
C563992|600132||Retinitis Pigmentosa 14|Retinitis Pigmentosa, Juvenile, TULP1-Related|RP14
C531673||Familial ependymoma|Adult intracranial ependymoma|Childhood ependymoma|Ependymoma, Familial
C567616|225300||Split-Hand/Foot Malformation 6|Ectrodactyly, Autosomal Recessive|SHFM6
D029241|165500||Optic Atrophy, Autosomal Dominant|Atrophies, Juvenile Optic|Atrophies, Kjer-Type Optic|Atrophy, Juvenile Optic|Atrophy, Kjer&apos;s Optic|Atrophy, Kjer-Type Optic|Autosomal Dominant Optic Atrophy|Autosomal Dominant Optic Atrophy Kjer Type|Dominant Optic Atrophies|Dominant Optic Atrophy|Juvenile Optic Atrophies|Juvenile Optic Atrophy|Kjer Optic Atrophy|Kjer&apos;s Optic Atrophy|Kjers Optic Atrophy|Kjer-Type Optic Atrophies|Kjer Type Optic Atrophy|Kjer-Type Optic Atrophy|OAK|OPA1|Optic Atrophies, Dominant|Optic Atrophies, Juvenile|Optic Atrophies, Kjer-Type|Optic Atrophy 1|Optic Atrophy 1s|Optic Atrophy, Dominant|Optic Atrophy, Hereditary, Autosomal Dominant|Optic Atrophy, Juvenile|Optic Atrophy, Kjer&apos;s|Optic Atrophy, Kjer Type|Optic Atrophy, Kjer-Type|Optic Atrophy Type 1
C567471|300712||Craniofacioskeletal Syndrome
C562879|104500||Amelogenesis Imperfecta, Type IB|AI1B|AIH2|Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant|Enamel Hypoplasia, Hereditary Localized
C565188|610743||Spinocerebellar Ataxia, Autosomal Recessive 8|Ataxia, Recessive, of Beauce|Cerebellar Ataxia, Autosomal Recessive, Type 1|SCAR8
D046449||Hernia, Abdominal|Abdominal Hernia|Abdominal Hernias|Hernias, Abdominal
C531602||Anders&apos; syndrome|Dercum-Vitaut syndrome
C531604||Primary visual agnosia|Monomodal visual amnesia|Visual amnesia
C531607||Alexanders leukodystrophy
C531609||Diffuse alopecia|Alopecia Celsi|Cazenave&apos;s Vitiligo|Celsus&apos; Vitiligo|Jonston&apos;s Alopecia|Marginal alopecia|Patchy alopecia
D058429||Gnathostomiasis|Gnathostoma Infection|Gnathostoma Infections|Gnathostomiases|Infection, Gnathostoma|Infections, Gnathostoma
D058426||Neointima|Formation, Neointima|Neointima Formation|Neointimas
D016585||Vaginosis, Bacterial|Bacterial Vaginitides|Bacterial Vaginitis|Bacterial Vaginoses|Bacterial Vaginosis|Nonspecific Vaginitis|Vaginitides, Bacterial|Vaginitis, Bacterial|Vaginitis, Nonspecific|Vaginoses, Bacterial
D016586||Granular Cell Tumor|Cell Myoblastoma, Granular|Cell Myoblastomas, Granular|Cell Tumor, Granular|Cell Tumors, Granular|Granular Cell Myoblastoma|Granular Cell Myoblastomas|Granular Cell Tumors|Myoblastoma, Granular Cell|Myoblastomas, Granular Cell|Tumor, Granular Cell|Tumors, Granular Cell
C531600||Growth hormone excess
C531601||Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes
D015270||Mycobacterium avium-intracellulare Infection|Infection, Mycobacterium avium intracellulare|Infection, Mycobacterium avium-intracellulare|Infection, Mycobacterium intracellulare|Infections, Mycobacterium avium-intracellulare|Infections, Mycobacterium intracellulare|Mycobacterium avium intracellulare Infection|Mycobacterium avium-intracellulare Infections|Mycobacterium intracellulare Infection|Mycobacterium intracellulare Infections
C563728|609376||Cataract, Congenital Nuclear, Autosomal Recessive 1|CATARACT 35|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1|CATCN1|CTRCT35
D016114|308100||Ichthyosis, X-Linked|Deficiencies, Steroid Sulfatase|Deficiency, Steroid Sulfatase|Ichthyoses, Sex-Linked|Ichthyoses, X-Linked|Ichthyosis, Sex Linked|Ichthyosis, Sex-Linked|Ichthyosis, X Linked|Placental Steroid Sulfatase Deficiency|Steroid Sulfatase Deficiencies|Steroid Sulfatase Deficiency|Steroid Sulfatase Deficiency Disease|STEROID SULFATASE DEFICIENCY DISEASE;SSDD ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED|STS DEFICIENCY|Sulfatase Deficiencies, Steroid|Sulfatase Deficiency, Steroid|XLI
D003289||Convalescence|Convalescences
C565246|606242||Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism|Kondoh Syndrome
D003286||Contracture|Contractures
D003288||Contusions|Bruise|Bruises|Contusion
C531613||Amoebiasis due to Entamoeba histolytica
C537699|256100||Nephronophthisis, familial juvenile|Juvenile nephronophthisis|Nephronophthisis 1|NEPHRONOPHTHISIS, FAMILIAL JUVENILE|NPH1|NPHP1|Type 1 nephronophthisis
C531614||Amniotic Band Sequence|Amniotic bands sequence|Congenital constricting bands|Constricting Bands, Congenital|Familial amniotic bands|Streeter anomaly
D003294||Seizures, Febrile|Convulsion, Febrile|Convulsion, Fever|Convulsion, Pyrexial|Convulsions, Febrile|Convulsions, Fever|Convulsions, Pyrexial|Febrile Convulsion|Febrile Convulsions|Febrile Convulsion Seizure|Febrile Convulsion Seizures|Febrile Fit|Febrile Fits|Febrile Seizure|Febrile Seizures|Fever Convulsion|Fever Convulsions|Fever Seizure|Fever Seizures|Fit, Febrile|Fits, Febrile|Pyrexial Convulsion|Pyrexial Convulsions|Pyrexial Seizure|Pyrexial Seizures|Seizure, Febrile|Seizure, Febrile, Complex|Seizure, Febrile Convulsion|Seizure, Febrile, Simple|Seizure, Fever|Seizure, Pyrexial|Seizures, Febrile Convulsion|Seizures, Fever|Seizures, Pyrexial
C531615||Amyloid Neuropathies, Primary (nonfamilial)
D060751||Bone Retroversion|Bone Retrotorsion|Bone Retrotorsions|Bone Retroversions|Retrotorsion, Bone|Retrotorsions, Bone|Retroversion, Bone|Retroversions, Bone
C531616||Primary amyloidosis|Amyloidosis, Primary|Amyloid - primary
D060750||Bone Anteversion|Antetorsion, Bone|Antetorsions, Bone|Anteversion, Bone|Anteversions, Bone|Bone Antetorsion|Bone Antetorsions|Bone Anteversions
C566907|611615||Cardiomyopathy, Dilated, 1x|Cardiomyopathy, Dilated, With Mild or No Proximal Muscle Weakness|CMD1X
604219|C565815||Cataract, Autosomal Dominant|CATARACT 9, MULTIPLE TYPES|CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, AUTOSOMAL DOMINANT|CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1|CATC1|CTRCT9
C531619||Happy puppet syndrome (formerly)
D003291||Conversion Disorder|Astasia Abasia|Astasia-Abasia|Conversion Disorders|Conversion Hysteria|Conversion Hysterias|Conversion Reaction|Conversion Reactions|Globus Hystericus|Hysteria, Conversion|Hysterias, Conversion|Reaction, Conversion|Reactions, Conversion
609015|C566945||Trifunctional Protein Deficiency With Myopathy And Neuropathy|3-Hydroxyacyl-CoA Dehydrogenase, Long Chain, Deficiency|LCHAD Deficiency|Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency|Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency|Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency|Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency|Mitochondrial Trifunctional Protein Deficiency|MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED|TFP Deficiency|Trifunctional Protein Deficiency|Trifunctional Protein Deficiency, Type 1|Trifunctional Protein Deficiency, Type 2
D015267||Churg-Strauss Syndrome|Allergic Angiitides|Allergic Angiitides, Granulomatous|Allergic Angiitis|Allergic Angiitis and Granulomatosis|Allergic Angiitis, Granulomatous|Allergic Granulomatoses|Allergic Granulomatosis|Allergic Granulomatous and Angiitis|Allergic Granulomatous Angiitides|Allergic Granulomatous Angiitis|Angiitides, Allergic|Angiitides, Allergic Granulomatous|Angiitides, Granulomatous Allergic|Angiitis, Allergic|Angiitis, Allergic Granulomatous|Angiitis, Granulomatous Allergic|Churg Strauss Syndrome|Churg-Strauss Vasculitis|Eosinophilic Granulomatous Vasculitides|Eosinophilic Granulomatous Vasculitis|Granulomatoses, Allergic|Granulomatosis, Allergic|Granulomatous Allergic Angiitides|Granulomatous Allergic Angiitis|Granulomatous Angiitides, Allergic|Granulomatous Angiitis, Allergic|Granulomatous Vasculitides, Eosinophilic|Granulomatous Vasculitis, Eosinophilic|Syndrome, Churg-Strauss|Vasculitides, Eosinophilic Granulomatous|Vasculitis, Churg Strauss|Vasculitis, Churg-Strauss|Vasculitis, Eosinophilic Granulomatous
D015266||Carcinoma, Merkel Cell|Cancer, Merkel Cell|Cell Cancer, Merkel|Merkel Cell Cancer|Merkel Cell Carcinoma|Merkel Cell Tumor|Merkle Tumors|Tumor, Merkel Cell|Tumors, Merkle
D058437||Hypertensive Retinopathy|Hypertensive Retinopathies|Retinopathies, Hypertensive|Retinopathy, Hypertensive
C531610||deficiency of AAT
D057108||Corneal Wavefront Aberration|Aberration, Corneal Wavefront|Aberrations, Corneal Wavefront|Corneal Wavefront Aberrations|Wavefront Aberration, Corneal|Wavefront Aberrations, Corneal
C536545|190300||Tremor hereditary essential, 1|ETM1|FET1|Tremor familial essential, 1|Tremor, Familial Essential, 1|Tremor, Hereditary Essential, 1
C567514|611819||Long Qt Syndrome 10|LQT10
D057112||Corneal Perforation|Corneal Perforations|Perforation, Corneal|Perforations, Corneal
C531624||Familial spinal arachnoiditis|Spinal arachnoiditis|Spinal tuberculous arachnoiditis
C531625||Chiari malformation type 2|Chiari Malformation Type II
C531629||Human balantidiasis|Balantidiosis|Balantidium coli infection|B coli infection|Large-intestinal infection with Balantidium coli
D058442||Capsule Opacification|Capsule Opacifications|Cataract, Secondary|Cataracts, Secondary|Opacification, Capsule|Opacifications, Capsule|Secondary Cataract|Secondary Cataracts
C567709|613204||Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency|Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency
C535979|201910||Congenital adrenal hyperplasia due to 21 hydroxylase deficiency|21 alpha hydroxylase deficiency|21 hydroxylase deficiency|21-Hydroxylase Deficiency|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|Adrenal hyperplasia III|Congenital adrenal hyperplasia 1|CONGENITAL ADRENAL HYPERPLASIA 1;CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, INCLUDED|CYP21 deficiency
D015231||Sexually Transmitted Diseases, Bacterial|Bacterial Sexually Transmitted Disease|Bacterial Sexually Transmitted Diseases|Bacterial Venereal Disease|Bacterial Venereal Diseases|Disease, Bacterial Venereal|Diseases, Bacterial Venereal|Sexually Transmitted Disease, Bacterial|Venereal Disease, Bacterial|Venereal Diseases, Bacterial
D016569||Blepharophimosis|Blepharophimoses
D058447||Eye Pain|Eye Pains|Pain, Eye|Pains, Eye
C531621||Cutaneous anthrax|Anthrax, skin type|Skin anthrax
C562603|612119||Trehalase Deficiency|Trehalose Intolerance
D016582||Leukemia, Feline|Feline Leukemia|Feline Leukemias|Leukemias, Feline
D016583||Enzootic Bovine Leukosis|Bovine Leukemia|Bovine Leukemias|Bovine Leukoses|Bovine Leukoses, Enzootic|Bovine Leukosis|Bovine Leukosis, Enzootic|Bovine Lymphoma|Bovine Lymphomas|Bovine Lymphosarcoma|Bovine Lymphosarcomas|Enzootic Bovine Leukoses|Leukemia, Bovine|Leukemias, Bovine|Leukoses, Bovine|Leukoses, Enzootic Bovine|Leukosis, Bovine|Leukosis, Enzootic Bovine|Lymphoma, Bovine|Lymphomas, Bovine|Lymphosarcoma, Bovine|Lymphosarcomas, Bovine
105500||AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1|ALS-PDC|AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM|GUAM DISEASE
C536404|600995||Nephrotic syndrome, idiopathic, steroid-resistant|Nephrotic syndrome, steroid-resistant, autosomal recessive|NEPHROTIC SYNDROME, TYPE 2|NPHS2|SRN1
D059786||Abnormal Karyotype|Abnormal Karyotypes|Karyotype, Abnormal|Karyotypes, Abnormal
C564888|261740||Glycogen Storage Disease of Heart, Lethal Congenital|Glycogen Storage Disease of Heart|Phosphorylase Kinase Deficiency of Heart
C536038|201450||Medium chain acyl CoA dehydrogenase deficiency|ACADMD|ACADM Deficiency|Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of|Acyl-CoA dehydrogenase, medium chain, deficiency of|Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency|MCAD Deficiency|MCADH Deficiency|Medium-chain Acyl-CoA dehydrogenase deficiency|Medium Chain Acyl-Coa Dehydrogenase Deficiency|Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
D058457||Trichiasis|Trichiases
D059787||Acute Pain|Acute Pains|Pain, Acute|Pains, Acute
193100|C562791||Hypophosphatemic Rickets, Autosomal Dominant|ADHR|Hypophosphatemia, Autosomal Dominant|Vitamin D-Resistant Rickets, Autosomal Dominant
C531638||Sudden unexpected nocturnal death syndrome
C531639||Stomatodynia
C537727|265300||Lymphangiectasia, pulmonary, congenital|CPL|Lymphangiectasia pulmonary congenital|Lymphangiomatosis, pulmonary|Pulmonary cystic lymphangiectasis
D016574||Seasonal Affective Disorder|Affective Disorder, Seasonal|Affective Disorders, Seasonal|Disorder, Seasonal Affective|Disorder, Seasonal Mood|Disorders, Seasonal Affective|Disorders, Seasonal Mood|Mood Disorder, Seasonal|Mood Disorders, Seasonal|Seasonal Affective Disorders|Seasonal Mood Disorder|Seasonal Mood Disorders
C564501|300505||Mental Retardation, X-Linked 84|MRX84
D057129||Iridocorneal Endothelial Syndrome|Chandler&apos;s Syndrome|Chandlers Syndrome|Chandler Syndrome|Cornea, Dystrophy Endothelial|Corneas, Dystrophy Endothelial|Dystrophy Endothelial Cornea|Dystrophy Endothelial Corneas|Endothelial Cornea, Dystrophy|Endothelial Corneas, Dystrophy|Endothelial Syndrome, Iridocorneal|Endothelial Syndromes, Iridocorneal|Iridocorneal Endothelial Syndromes|Iris Atrophy with Corneal Edema and Glaucoma
300068|D013734||Androgen-Insensitivity Syndrome|AIS|Androgen Insensitivities, Partial|Androgen Insensitivity, Partial|ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER|Androgen Insensitivity Syndrome|Androgen Insensitivity Syndrome, Complete|Androgen-Insensitivity Syndrome, Complete|Androgen Insensitivity Syndrome, Partial|Androgen-Insensitivity Syndrome, Partial|Androgen Insensitivity Syndromes|Androgen-Insensitivity Syndromes|Androgen-Insensitivity Syndromes, Complete|Androgen-Insensitivity Syndromes, Partial|Androgen Receptor Deficiencies|Androgen Receptor Deficiency|Androgen Resistance Syndrome|Androgen Resistance Syndromes|AR Deficiencies|AR Deficiency|Complete Androgen-Insensitivity Syndrome|Complete Androgen-Insensitivity Syndromes|Deficiencies, Androgen Receptor|Deficiencies, AR|Deficiencies, DHTR|Deficiencies, Dihydrotestosterone Receptor|Deficiency, Androgen Receptor|Deficiency, AR|Deficiency, DHTR|Deficiency, Dihydrotestosterone Receptor|DHTR Deficiencies|DHTR Deficiency|Dihydrotestosterone Receptor Deficiencies|Dihydrotestosterone Receptor Deficiency|Feminizations, Testicular|Feminization Syndromes, Testicular|Feminization Syndrome, Testicular|Feminization, Testicular|Insensitivities, Partial Androgen|Insensitivity, Partial Androgen|Insensitivity Syndrome, Androgen|Insensitivity Syndromes, Androgen|Male Pseudohermaphroditism Due to Androgen Insensitivity|PAIS|Partial Androgen Insensitivities|Partial Androgen Insensitivity|Partial Androgen-Insensitivity Syndrome|Partial Androgen-Insensitivity Syndromes|Receptor Deficiencies, Androgen|Receptor Deficiencies, Dihydrotestosterone|Receptor Deficiency, Androgen|Receptor Deficiency, Dihydrotestosterone|Reifenstein&apos;s Syndrome|Reifensteins Syndrome|Reifenstein Syndrome|Resistance Syndrome, Androgen|Resistance Syndromes, Androgen|Testicular Feminization|Testicular Feminizations|Testicular Feminization Syndrome|Testicular Feminization Syndromes|TFM
D016575||Hidradenitis|Eccrine Hidradenitides, Neutrophilic|Eccrine Hidradenitis, Neutrophilic|Hidradenitides|Hidradenitides, Neutrophilic Eccrine|Hidradenitis, Neutrophilic Eccrine|Hidrosadenitides|Hidrosadenitis|Hydradenitides|Hydradenitis|Neutrophilic Eccrine Hidradenitides|Neutrophilic Eccrine Hidradenitis
C531633||Biotin deficiency
105550||FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS|ALSFTD|AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA|FRONTOTEMPORAL DEMENTIA AND/OR MOTOR NEURON DISEASE|FTDALS|FTDMND
D017880||Limb Deformities, Congenital|Congenital Limb Deformities|Congenital Limb Deformity|Deformities, Congenital Limb|Deformity, Congenital Limb|Limb Deformity, Congenital
C565198|610687||Nemaline Myopathy 7|NEM7
609055|C537953||Ceroid lipofuscinosis, neuronal 9|Ceroid Lipofuscinosis, Neuronal, 9|CLN9
C536080|300438||Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency|17beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency|17-Beta-Hydroxysteroid Dehydrogenase X Deficiency|2-Methyl-3-Hydroxybutyric Aciduria|2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency|3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency|3-Hydroxyacyl-CoA Dehydrogenase II Deficiency|3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency|HSD10 DEFICIENCY|HSD17B10 Deficiency|Hydroxyacyl-CoA Dehydrogenase II Deficiency|MHBD DEFICIENCY
D003234||Conjunctivitis, Bacterial|Bacterial Conjunctivitides|Bacterial Conjunctivitis|Conjunctivitides, Bacterial|Conjunctivitides, Mucopurulent|Conjunctivitides, Purulent|Conjunctivitis, Mucopurulent|Conjunctivitis, Purulent|Mucopurulent Conjunctivitides|Mucopurulent Conjunctivitis|Purulent Conjunctivitides|Purulent Conjunctivitis
D005896||Glanders
D003235||Conjunctivitis, Inclusion|Blennorrhea, Inclusion|Blennorrheas, Inclusion|Conjunctivitides, Inclusion|Inclusion Blennorrhea|Inclusion Blennorrheas|Inclusion Conjunctivitides|Inclusion Conjunctivitis
D003236||Conjunctivitis, Viral|Conjunctivitides, Viral|Viral Conjunctivitides|Viral Conjunctivitis
C562798||Transcobalamin I Deficiency|Cobalamin Pseudodeficiency due to Transcobalamin Deficiency|Cobalamin R Binder Protein Deficiency|Transcobalamin I Deficiency With Lactoferrin Deficiency
178000|C566740||Pterygium Of Conjunctiva And Cornea
D003230||Conjunctival Neoplasms|Conjunctival Neoplasm|Neoplasm, Conjunctival|Neoplasms, Conjunctival
D005892||Gingivitis, Necrotizing Ulcerative|Acute Membranous Gingivitides|Acute Membranous Gingivitis|Acute Necrotizing Ulcerative Gingivitis|Anginas, Vincent|Angina, Vincent|Fusospirillary Gingivitides|Fusospirillary Gingivitis|Fusospirilloses|Fusospirillosis|Gingivitides, Acute Membranous|Gingivitides, Fusospirillary|Gingivitides, Phagedenic|Gingivitis, Acute Membranous|Gingivitis, Fusospirillary|Gingivitis, Phagedenic|Gingivitis, Vincent&apos;s|Infection, Vincent|Infection, Vincent&apos;s|Membranous Gingivitides, Acute|Membranous Gingivitis, Acute|Mouth, Trench|Necrotizing Ulcerative Gingivitis|Phagedenic Gingivitides|Phagedenic Gingivitis|Stomatitides, Ulcerative|Stomatitis, Ulcerative|Stomatitis, Vincent&apos;s|Trench Mouth|Ulcerative Gingivitis, Necrotizing|Ulcerative Stomatitides|Ulcerative Stomatitis|Vincent Angina|Vincent Gingivitis|Vincent Infection|Vincent&apos;s Gingivitis|Vincents Gingivitis|Vincent&apos;s Infection|Vincents Infection|Vincent&apos;s Stomatitis|Vincents Stomatitis|Vincent Stomatitis
D003231||Conjunctivitis|Conjunctivitides
D003232||Conjunctivitis, Acute Hemorrhagic|Acute Hemorrhagic Conjunctivitides|Acute Hemorrhagic Conjunctivitis|Conjunctivitides, Acute Hemorrhagic|Hemorrhagic Conjunctivitides, Acute|Hemorrhagic Conjunctivitis, Acute
D003233||Conjunctivitis, Allergic|Allergic Conjunctivitides|Allergic Conjunctivitis|Atopic Conjunctivitides|Atopic Conjunctivitis|Conjunctivitides, Allergic|Conjunctivitides, Atopic|Conjunctivitides, Giant Papillary|Conjunctivitides, Vernal|Conjunctivitis, Atopic|Conjunctivitis, Giant Papillary|Conjunctivitis, Vernal|Giant Papillary Conjunctivitides|Giant Papillary Conjunctivitis|Keratoconjunctivitides, Vernal|Keratoconjunctivitis, Vernal|Papillary Conjunctivitides, Giant|Papillary Conjunctivitis, Giant|Vernal Conjunctivitides|Vernal Conjunctivitis|Vernal Keratoconjunctivitides|Vernal Keratoconjunctivitis
D057135||Wet Macular Degeneration|Degenerations, Wet Macular|Degeneration, Wet Macular|Macular Degenerations, Wet|Macular Degeneration, Wet|Wet Macular Degenerations
D015218||Hyperostosis, Sternocostoclavicular|Hyperostoses, Sternocostoclavicular|Sternocostoclavicular Hyperostoses|Sternocostoclavicular Hyperostosis
D015217||Cholesterol Ester Storage Disease|Cholesteryl Ester Storage Disease
D003240||Connective Tissue Diseases|Connective Tissue Disease|Disease, Connective Tissue|Diseases, Connective Tissue
D057130||Leber Congenital Amaurosis|Abiotrophies, Leber|Abiotrophy, Leber|Amauroses, Leber Congenital|Amauroses, Leber&apos;s|Amaurosis, Leber Congenital|Amaurosis, Leber&apos;s|Blindness, Congenital Retinal|Blindnesses, Congenital Retinal|Congenital Amauroses, Leber|Congenital Amaurosis, Leber|Congenital Amaurosis of Retinal Origin|Congenital Retinal Blindness|Congenital Retinal Blindnesses|Dysgenesis Neuroepithelialis Retinae|Hereditary Epithelial Dysplasia of Retina|Hereditary Retinal Aplasia|Heredoretinopathia Congenitalis|Leber Abiotrophies|Leber Abiotrophy|Leber Amaurosis|Leber Congenital Amauroses|Leber Congenital Tapetoretinal Degeneration|Leber&apos;s Amauroses|Leber&apos;s Amaurosis|Lebers Amaurosis|Retinal Blindnesses, Congenital
D016545||Choroid Plexus Neoplasms|Choroid Plexus Neoplasm|Choroid Plexus Neoplasms, Primary|Choroid Plexus Tumor|Choroid Plexus Tumors|Neoplasm, Choroid Plexus|Neoplasms, Choroid Plexus|Primary Choroid Plexus Neoplasms
D015210||Arthritis, Gouty|Arthritides, Gouty|Gouty Arthritides|Gouty Arthritis
D009447|256700||Neuroblastoma|NBLST1, INCLUDED|NBLST2|NBLST3|NBLST4|NBLST5|NBLST6|Neuroblastomas|NEUROBLASTOMA, SUSCEPTIBILITY TO|NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED|NEUROBLASTOMA, SUSCEPTIBILITY TO, 2|NEUROBLASTOMA, SUSCEPTIBILITY TO, 3|NEUROBLASTOMA, SUSCEPTIBILITY TO, 4|NEUROBLASTOMA, SUSCEPTIBILITY TO, 5|NEUROBLASTOMA, SUSCEPTIBILITY TO, 6|NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, INCLUDED
D012516|259500||Osteosarcoma|OSRC|Osteogenic Sarcoma|Osteogenic Sarcomas|OSTEOSARCOMA|Osteosarcomas|Osteosarcoma Tumor|Osteosarcoma Tumors|Sarcoma, Osteogenic|Sarcomas, Osteogenic|Tumor, Osteosarcoma|Tumors, Osteosarcoma
D016543||Central Nervous System Neoplasms|Central Nervous System Neoplasms, Primary|Central Nervous System Tumors|Neoplasms, Central Nervous System|Primary Central Nervous System Neoplasms|Tumors, Central Nervous System
D007918|246300||Leprosy|Disease, Hansen|Disease, Hansen&apos;s|Hansen Disease|Hansen&apos;s Disease|Hansens Disease|Leprosies|LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO, INCLUDED|LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1|LEPROSY, PROTECTION AGAINST, INCLUDED|LEPROSY, SUSCEPTIBILITY TO, 1|LEPROSY, SUSCEPTIBILITY TO, 2|LEPROSY, SUSCEPTIBILITY TO, 3|LEPROSY, SUSCEPTIBILITY TO, 4|LEPROSY, SUSCEPTIBILITY TO, 5|LEPROSY, SUSCEPTIBILITY TO, 6|LPRS1|LPRS2|LPRS3|LPRS4|LPRS5|LPRS6
D017890||Splenosis|Splenoses
D045169||Severe Acute Respiratory Syndrome|Respiratory Syndrome, Acute, Severe|Respiratory Syndrome, Severe Acute
C567089|611771||Lipoprotein Glomerulopathy|LPG
C564926|258450||Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive|PEOB|Progressive External Ophthalmoplegia, Autosomal Recessive
C567730|613135||Parkinsonism-Dystonia, Infantile|DOPAMINE TRANSPORTER DEFICIENCY SYNDROME|DTDS|PKDYS
C548479||Vulvar dysesthesia localized in the vestibule
105400|C531617||Amyotrophic lateral sclerosis 1|ALS1|AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, INCLUDED|AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL|Amyotrophic Lateral Sclerosis, Autosomal Dominant|Amyotrophic Lateral Sclerosis, Familial|AMYOTROPHIC LATERAL SCLEROSIS, SPORADIC, INCLUDED|FALS
C536490|276901||Usher syndrome, type 2A|USH2A|Usher Syndrome, Type IIA
D003248||Constipation|Colonic Inertia|Dyschezia
D003244||Consciousness Disorders|Altered Level of Consciousness|Consciousness Disorder|Consciousness, Level Altered|Consciousness, Level Depressed|Depressed Level of Consciousness|Semiconsciousness
D015229||Sexually Transmitted Diseases, Viral|Diseases, Viral Venereal|Disease, Viral Venereal|Sexually Transmitted Disease, Viral|Venereal Diseases, Viral|Venereal Disease, Viral|Viral Sexually Transmitted Disease|Viral Sexually Transmitted Diseases|Viral Venereal Disease|Viral Venereal Diseases
D015228||Hypertriglyceridemia|Hypertriglyceridemias
D003251||Constriction, Pathologic|Constriction, Pathological|Constrictions, Pathologic|Pathological Constriction|Pathologic Constriction|Pathologic Constrictions|Stenoses|Stenosis|Stricture|Strictures
D015223||Wolman Disease|Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type|Acid Lipase Deficiency|Disease, Wolman|Disease, Wolman&apos;s|Familial Xanthomatoses|Familial Xanthomatosis|Liposomal Acid Lipase Deficiency, Wolman Type|Wolman&apos;s Disease|Wolmans Disease|Wolman&apos;s Xanthomatosis|Xanthomatoses, Familial|Xanthomatosis, Familial|Xanthomatosis, Wolman|Xanthomatosis, Wolmans|Xanthomatosis, Wolman&apos;s
D017887||Ossification of Posterior Longitudinal Ligament|Calcification of Posterior Longitudinal Ligament|Posterior Longitudinal Ligament Calcification|Posterior Longitudinal Ligament Ossification
C548481||Periventricular Laminar Heterotopia|Heterotopia, Periventricular
C536463|611584||Waardenburg syndrome type 2|HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION|Waardenburg Syndrome, Type 2E|Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement|Waardenburg Syndrome, Type IIE|WS2E|WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT
C562774||Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
D003218||Condylomata Acuminata|Genital Wart|Genital Warts|Venereal Wart|Venereal Warts|Wart, Genital|Warts, Genital|Warts, Venereal|Wart, Venereal
C562773||Diabetes Mellitus, Type Ii, Autosomal Dominant
607822|C564330||Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia|AD3|ALZHEIMER DISEASE 3|ALZHEIMER DISEASE 3, EARLY-ONSET|ALZHEIMER DISEASE, FAMILIAL, 3 ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED|ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA, INCLUDED
D005877||Gigantism|Gigantism, Pituitary|Pituitary Gigantism
C566494|609968||Hyperinsulinemic Hypoglycemia, Familial, 5|HHF5
C562776||Hyperproinsulinemia
D004370|126800||Duane Retraction Syndrome|Acrorenoocular Syndrome|Acrorenoocular Syndromes|Anomalies, Isolated Duane|Anomaly, Duane|Anomaly, Isolated Duane|Co Contractive Retraction Syndrome|Co-Contractive Retraction Syndrome|Co-Contractive Retraction Syndromes|DRRS|DRS|DR SYNDROME|Duane Anomalies, Isolated|Duane Anomaly|Duane Anomaly, Isolated|Duane Anomaly with Radial Abnormalities and Deafness|Duane Anomaly with Radial Ray Abnormalities and Deafness|Duane Radial Ray Syndrome|Duane-Radial Ray Syndrome|Duane Retraction Syndrome 1|Duane Retraction Syndrome 2|Duane Retraction Syndrome, Type 1|Duane Retraction Syndrome, Type 2|Duane Retraction Syndrome, Type 3|Duane&apos;s Syndrome|Duanes Syndrome|Duane Syndrome|DURS1|DURS2|DUS|Isolated Duane Anomalies|Isolated Duane Anomaly|Isolated Duane Retraction Syndrome|Ocular Retraction Syndrome|Ocular Retraction Syndromes|Okihiro Syndrome|Retraction Syndrome|Retraction Syndrome, Co-Contractive|Retraction Syndrome, Duane|Retraction Syndrome, Ocular|Retraction Syndromes|Retraction Syndromes, Co-Contractive|Retraction Syndromes, Ocular|Stilling Turk Duane Syndrome|Stilling-Turk-Duane Syndrome|Stilling-Turk-Duane Syndromes|Syndrome, Acrorenoocular|Syndrome, Co-Contractive Retraction|Syndrome, Duane|Syndrome, Duane-Radial Ray|Syndrome, Duane Retraction|Syndrome, Duane&apos;s|Syndrome, Ocular Retraction|Syndrome, Okihiro|Syndrome, Retraction|Syndromes, Acrorenoocular|Syndromes, Co-Contractive Retraction|Syndromes, Ocular Retraction|Syndromes, Retraction|Syndromes, Stilling-Turk-Duane|Syndrome, Stilling-Turk-Duane|Type 1 Duane Retraction Syndrome|Type 2 Duane Retraction Syndrome|Type 3 Duane Retraction Syndrome
300557|C564486||Parkinson Disease 12|PARK12|Parkinson Disease, X-Linked
D005871||Giant Lymph Node Hyperplasia|Angiofollicular Lymph Hyperplasia|Angiofollicular Lymph Hyperplasias|Angiofollicular Lymph Node Hyperplasia|Angiofollicular Lymphoid Hyperplasia|Angiofollicular Lymphoid Hyperplasias|Castleman Disease|Castleman&apos;s Disease|Castlemans Disease|Castleman&apos;s Tumor|Castlemans Tumor|Castleman Tumor|GLNH|Hyperplasia, Angiofollicular Lymph|Hyperplasia, Angiofollicular Lymphoid|Hyperplasia, Giant Lymph Node|Hyperplasias, Angiofollicular Lymph|Hyperplasias, Angiofollicular Lymphoid|Lymph Node Hyperplasia, Giant|Lymphoid Hyperplasia, Angiofollicular|Lymphoid Hyperplasias, Angiofollicular|Tumor, Castleman&apos;s
C565202|610320||Myopia 14|MYP14
D005870||Giant Cell Tumors|Cell Tumor, Giant|Cell Tumors, Giant|Giant Cell Tumor|Tumor, Giant Cell|Tumors, Giant Cell
D005873||Giardiasis|Giardiases|Lambliases|Lambliasis
D004541||Eisenmenger Complex|Complex, Eisenmenger|Complex, Eisenmenger&apos;s|Eisenmenger&apos;s Complex|Eisenmengers Complex|Eisenmenger&apos;s Syndrome|Eisenmengers Syndrome|Eisenmenger Syndrome|Syndrome, Eisenmenger|Syndrome, Eisenmenger&apos;s
D058489||46, XX Disorders of Sex Development|46,XX Disorders of Sex Development|46, XX DSD|46,XX DSD|Female Pseudohermaphroditism|Female Pseudohermaphroditisms|Pseudohermaphroditism, Female|Pseudohermaphroditisms, Female
D016523||Foot Ulcer|Foot Ulcers|Plantar Ulcer|Plantar Ulcers|Ulcer, Foot|Ulcer, Plantar|Ulcers, Foot|Ulcers, Plantar
D005889||Gingival Recession|Atrophy of Gingiva|Gingiva Atrophies|Gingiva Atrophy|Gingival Atrophies|Gingival Atrophy|Gingival Recessions|Recession, Gingival|Recessions, Gingival
C535423|601596||Charcot-Marie-Tooth disease, Type 4C|Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c|Charcot-Marie-Tooth Neuropathy, Type 4c|Cmt4c|CMT 4C
D003229||Conjunctival Diseases|Conjunctival Disease|Disease, Conjunctival|Diseases, Conjunctival
C562783||Hypercalciuric Hypocalcemia, Familial|Hypocalcemia, Autosomal Dominant|Hypocalcemia, Familial|Hypoparathyroidism, Autosomal Dominant
C537127|258500||Optic atrophy 6|OPA6|Optic atrophy, congenital or early infantile, autosomal recessive
D005886||Gingival Hypertrophy|Gingival Hypertrophies|Hypertrophies, Gingival|Hypertrophy, Gingival
D005885||Gingival Hyperplasia|Gingival Hyperplasias|Hyperplasia, Gingival|Hyperplasias, Gingival
D005888||Gingival Pocket|Gingival Pockets|Pocket, Gingival|Pockets, Gingival
D005887||Gingival Neoplasms|Congenital Epulides|Congenital Epulis|Epulides, Congenital|Epulis, Congenital|Gingival Neoplasm|Neoplasm, Gingival|Neoplasms, Gingival
D004556||Electric Injuries|Accidental Electrocution|Accidental Electrocutions|Electric Injury|Electrocution, Accidental|Electrocutions, Accidental|Injuries, Electric|Injury, Electric
D005882||Gingival Diseases|Disease, Gingival|Diseases, Gingival|Epulides|Epulis|Gingival Disease|Gingivoses|Gingivosis
D005884||Gingival Hemorrhage|Gingival Hemorrhages|Hemorrhage, Gingival
D003221||Confusion|Bewilderment|Confusional State|Confusional States|Confusion, Post Ictal|Confusion, Post-Ictal|Confusion, Reactive|Disorientation|Post-Ictal Confusion|Reactive Confusion|State, Confusional|States, Confusional
D058499||Retinal Dystrophies|Dystrophies, Retinal|Dystrophy, Retinal|Retinal Dystrophy
D015208||Smoke Inhalation Injury|Inhalation Injuries, Smoke|Inhalation Injury, Smoke|Injuries, Smoke Inhalation|Injury, Smoke Inhalation|Smoke Inhalation Injuries
D005891||Gingivitis|Gingivitides
D015207||Osteoarthritis, Hip|Coxarthroses|Coxarthrosis|Hip Osteoarthritides|Hip Osteoarthritis|Osteoarthritides, Hip|Osteoarthritis Of Hip|Osteoarthritis Of Hips
C563709|609508||Stickler Syndrome, Type I, Nonsyndromic Ocular|DRRD, INCLUDED|Stickler Syndrome, Atypical|STICKLER SYNDROME, ATYPICAL RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED|Stickler Syndrome, Type I, Predominantly Ocular
604595||CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1|CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13|CHOLESTEROL-LOWERING FACTOR|CLF|CLQTL1
D057165||Proteostasis Deficiencies|Deficiencies, Proteostasis|Deficiency, Proteostasis|Disease, Protein Folding|Disease, Protein Misfolding|Diseases, Protein Folding|Diseases, Protein Misfolding|Disorder, Protein Folding|Disorder, Protein Misfolding|Disorders, Protein Folding|Disorders, Protein Misfolding|Dysfunction, Proteostasis|Dysfunctions, Proteostasis|Folding Disease, Protein|Folding Diseases, Protein|Folding Disorder, Protein|Folding Disorders, Protein|Misfolding Disease, Protein|Misfolding Diseases, Protein|Misfolding Disorder, Protein|Misfolding Disorders, Protein|Protein Folding Disease|Protein Folding Diseases|Protein Folding Disorder|Protein Folding Disorders|Protein Misfolding Disease|Protein Misfolding Diseases|Protein Misfolding Disorder|Protein Misfolding Disorders|Proteostasis Deficiency|Proteostasis Dysfunction|Proteostasis Dysfunctions
C537457|309580||Mental retardation-hypotonic facies syndrome, x-linked, 1|Carpenter-Waziri syndrome|Chudley Lowry Hoar syndrome|Chudley-Lowry Syndrome|Chudley mental retardation syndrome|Chudley syndrome 1|Holmes-Gang syndrome|JMS|Juberg-Marsidi Mental Retardation Syndrome|Juberg Marsidi syndrome|Juberg-Marsidi syndrome|Mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|Mental Retradation, X-linked with Growth Delay, Deafness, Microgenitalism|MRXHF1|SFM1|SFMS|Smith-fineman-myers syndrome 1|X-linked hypogonadism gynecomastia mental retardation|X-Linked Mental Retardation-Hypotonic Facies Syndrome|XLMR-HYPOTONIC FACIES SYNDROME
D016534||Cardiac Output, High|Cardiac Outputs, High|High Cardiac Output|High Cardiac Outputs
D016535||Bronchial Hyperreactivity|Bronchial Hyperreactivities|Hyperreactivities, Bronchial|Hyperreactivity, Bronchial
C566397|603221||Myopia 3|MYOPIA 3, AUTOSOMAL DOMINANT|MYP3
C564284|608133||Retinitis Pigmentosa 7|RETINITIS PIGMENTOSA 7, DIGENIC, INCLUDED|RETINITIS PIGMENTOSA 7 WITH BULL&apos;S-EYE MACULOPATHY, INCLUDED|RP7
C536580||Chromosome 18 deletion syndrome|18q syndrome|18q- Syndrome|Chromosome 18, monosomy 18Q|Chromosome 18q Deletion Syndrome|Chromosome 18q syndrome|Chromosome 18q- Syndrome|Monosomy 18q, deletion 18q|Monosomy 18q syndrome
C536581||Chromosome 18 mosaic monosomy|Monosomy 18 mosaicism
D004646||Emphysema
D003316||Corneal Diseases|Corneal Disease|Disease, Corneal|Diseases, Corneal
D003317||Corneal Dystrophies, Hereditary|Corneal Dystrophy, Hereditary|Corneal Granular Dystrophies|Corneal Granular Dystrophy|Corneal Macular Dystrophies|Corneal Macular Dystrophy|Corneal Stromal Dystrophies|Corneal Stromal Dystrophy|Dystrophies, Corneal Granular|Dystrophies, Corneal Macular|Dystrophies, Corneal Stromal|Dystrophies, Groenouw&apos;s|Dystrophies, Hereditary Corneal|Dystrophy, Corneal Granular|Dystrophy, Corneal Macular|Dystrophy, Corneal Stromal|Dystrophy, Hereditary Corneal|Granular Dystrophies, Corneal|Granular Dystrophy, Corneal|Groenouw Dystrophies|Groenouw&apos;s Dystrophies|Groenouws Dystrophies|Hereditary Corneal Dystrophies|Hereditary Corneal Dystrophy|Macular Dystrophies, Corneal|Macular Dystrophy, Corneal|Stromal Dystrophies, Corneal|Stromal Dystrophy, Corneal
C536584||Alpha-mannosidosis type 1
D003318||Corneal Opacity|Corneal Opacities|Leukoma|Leukomas|Opacities, Corneal|Opacity, Corneal
C536585||Alpha-mannosidosis, type 2|Alpha-mannosidosis, adult-onset form
C562872||Tuftsin Deficiency
C565553|231005||Gaucher Disease, Type Iiic
C537135|300238||Orofaciodigital syndrome, Shashi type|Mental retardation X-linked Shashi type|Mental Retardation, X-Linked, Shashi Type|Mental retardation X-linked syndromic 11|Mental Retardation, X-Linked, Syndromic 11|MRXS11|Shashi X-linked mental retardation syndrome|SMRXS
D003310||Cor Triatriatum|Atriums, Subdivided Left|Atrium, Subdivided Left|Cor Triatriatum Sinistrum|Hearts, Triatrial|Heart, Triatrial|Left Atriums, Subdivided|Left Atrium, Subdivided|Subdivided Left Atrium|Subdivided Left Atriums|Triatrial Heart|Triatrial Hearts
C563442|600795||Frontotemporal Dementia, Chromosome 3-Linked|DEM|Dementia, Familial Nonspecific|DMT1|FTD3
D058387||Candidemia|Candidemias
C564547|300271||Mental Retardation, X-Linked 72|MRX72
C536579||Chromosome 17, trisomy 17q22|Duplication 17q|Trisomy 17q22
254110|C535897||Limb-girdle muscular dystrophy type 2H|LGMD2H|Muscular dystrophy Hutterite type|Muscular Dystrophy, Hutterite Type|Muscular dystrophy, limb-girdle type 2H|Muscular Dystrophy, Limb-Girdle, Type 2H|Sarcotubular myopathy
C536577||Borrone Di Rocco Crovato syndrome|Borrone dermatocardioskeletal syndrome
C536358|301310||Anemia, sideroblastic spinocerebellar ataxia|Anemia, Sex-Linked Hypochromic Siderobla|Anemia, Sideroblastic, and Spinocerebellar Ataxia|ASAT|Pagon Bird Detter syndrome|Sideroblastic anemia with spinocerebellar ataxia|X-Linked Sideroblastic Anemia and Ataxia|Xlsa/A
C564593|607313||Gaze Palsy, Familial Horizontal, with Progressive Scoliosis|Familial Horizontal Gaze Palsy with Progressive Scoliosis|Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy|Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze|Hgpps|Horizontal Gaze Palsy with Progressive Scoliosis|Ophthalmoplegia, Progressive External, and Scoliosis|OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED
C536578||Chromosome 17, trisomy 17p11 2|Duplication 17p11 2|Trisomy 17p11 2
C536665|261550||Persistent Mullerian duct syndrome|FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE|Hernia uteri inguinale|Persistent M&#252;llerian Duct Syndrome|Persistent mullerian duct syndrome, types 1 and 2|Persistent Mullerian Duct Syndrome, Types I And Ii|Persistent oviduct syndrome|PMDS|Pseudohermaphroditism, male internal
C536593||Alves Castelo dos Santos syndrome|Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract
C536594||Alzheimer disease type 1|Alzheimer disease 1|Early-onset familial form of Alzheimer disease
C536591||Alveolar echinococcosis
C562884||Fibromatosis, Gingival, Type 1|Fibromatosis, Gingival, Hereditary|GINGF1
C536598||Alzheimer disease, familial, type 3|Alzheimer disease 3|Alzheimer Disease 3, Early-Onset|Alzheimer disease early onset type 3|Alzheimer Disease, Familial, 3|Alzheimer disease type 3
C562885||Hyperbilirubinemia, Conjugated, Type III
D003328||Coronary Thrombosis|Coronary Thromboses|Thromboses, Coronary|Thrombosis, Coronary
D003329||Coronary Vasospasm|Artery Vasospasm, Coronary|Artery Vasospasms, Coronary|Coronary Artery Vasospasm|Coronary Artery Vasospasms|Coronary Vasospasms|Vasospasm, Coronary|Vasospasm, Coronary Artery|Vasospasms, Coronary|Vasospasms, Coronary Artery
D004654||Empyema, Tuberculous|Empyema, Pleural, Tuberculous|Empyemas, Tuberculous|Tuberculous Empyema|Tuberculous Empyemas
D004653||Empyema
D003323||Coronary Aneurysm|Aneurysm, Coronary|Aneurysms, Coronary|Coronary Aneurysms
D057072||Intra-Articular Fractures|Fracture, Intraarticular|Fracture, Intra-Articular|Fractures, Intraarticular|Fractures, Intra-Articular|Intraarticular Fracture|Intra-Articular Fracture|Intraarticular Fractures|Intra Articular Fractures
D003324||Coronary Artery Disease|Arterioscleroses, Coronary|Arteriosclerosis, Coronary|Artery Disease, Coronary|Artery Diseases, Coronary|Atheroscleroses, Coronary|Atherosclerosis, Coronary|Coronary Arterioscleroses|Coronary Arteriosclerosis|Coronary Artery Diseases|Coronary Atheroscleroses|Coronary Atherosclerosis|Disease, Coronary Artery|Diseases, Coronary Artery
C562886||Ichthyosis Congenita With Biliary Atresia
D004652||Empty Sella Syndrome|Empty Sella Syndrome, Primary|Empty Sella Syndromes|Empty Sella Syndrome, Secondary|Empty Sella Turcica|Empty Sella Turcicas|Empty Sella Turcica Syndrome|Primary Empty Sella Syndrome|Secondary Empty Sella Syndrome|Sella Turcica, Empty|Sella Turcicas, Empty
D003320||Corneal Ulcer|Keratitides, Ulcerative|Keratitis, Ulcerative|Ulcerative Keratitides|Ulcerative Keratitis|Ulcer, Corneal
C564710|606407||Hypotonia-Cystinuria Syndrome|Cystinuria with Mitochondrial Disease|HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED|Homozygous 2p21 Deletion Syndrome
609179|D020325||Migraine with Aura|Acute Onset Aura Migraine|Basilar Artery Migraine|Basilar Migraine|Basilar Migraines|Basilar Type Migraine|Basilar-Type Migraine|Classical Migraine|Classic Migraine|Complicated Migraine|Familial Hemiplegic Migraine|Familial Hemiplegic Migraines|Hemiplegic Migraine, Familial|Hemiplegic-Ophthalmoplegic Migraine|MGR7|MGR9|Migraine Aura without Headache|Migraine, Basilar|Migraine, Basilar Artery|Migraine, Basilar-Type|Migraine, Classic|Migraine, Classical|Migraine, Complicated|Migraine, Prolonged Aura|Migraine with Acute Onset Aura|Migraine with Auras|MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7|MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9|Migraine with Prolonged Aura|Migraine with Typical Aura|Prolonged Aura Migraine|Typical Aura without Headache
D057068||Periprosthetic Fractures|Fracture, Peri-Implant|Fracture, Periprosthetic|Fractures, Peri-Implant|Fractures, Periprosthetic|Peri-Implant Fracture|Peri Implant Fractures|Peri-Implant Fractures|Periprosthetic Fracture
D057066||Low Tension Glaucoma|Glaucoma, Low Tension|Glaucoma, Normal Tension|Glaucomas, Low Tension|Glaucomas, Normal Tension|Low Tension Glaucomas|Normal Tension Glaucoma|Normal Tension Glaucomas|Tension Glaucoma, Low|Tension Glaucoma, Normal|Tension Glaucomas, Low|Tension Glaucomas, Normal
D016638||Critical Illness|Critical Illnesses|Critically Ill|Illness, Critical|Illnesses, Critical
115197|C566169||Cardiomyopathy, Familial Hypertrophic, 4|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO, INCLUDED|CMH4
C566550|602433||Amyotrophic Lateral Sclerosis 4, Juvenile|ALS4|Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
C536588||Alsing syndrome
C535272||Premature ovarian failure, familial|Familial premature ovarian failure|Idiopathic familial premature ovarian failure
C535273||Presenile dementia, Kraepelin type|Catatonia of Kraepelin|Kraepelin disease
C535276||Primary angiitis of the central nervous system|PACNS
D005955||Glucosephosphate Dehydrogenase Deficiency|Deficiencies, G6PD|Deficiencies, Glucose-6-Phosphate Dehydrogenase|Deficiencies, Glucosephosphate Dehydrogenase|Deficiencies, GPD|Deficiency, G6PD|Deficiency, Glucose-6-Phosphate Dehydrogenase|Deficiency, Glucosephosphate Dehydrogenase|Deficiency, GPD|Deficiency of Glucose 6 Phosphate Dehydrogenase|Deficiency of Glucose-6-Phosphate Dehydrogenase|Dehydrogenase Deficiencies, Glucose-6-Phosphate|Dehydrogenase Deficiencies, Glucosephosphate|Dehydrogenase Deficiency, Glucose-6-Phosphate|Dehydrogenase Deficiency, Glucosephosphate|G6PD Deficiencies|G6PD Deficiency|Glucose-6-Phosphate Dehydrogenase Deficiencies|Glucose 6 Phosphate Dehydrogenase Deficiency|Glucose-6-Phosphate Dehydrogenase Deficiency|Glucosephosphate Dehydrogenase Deficiencies|GPD Deficiencies|GPD Deficiency|Hemolytic Anemia Due to G6PD Deficiency
C535275||Primary amebic meningoencephalitis|Meningoencephalitis caused by Naegleria fowleri
609054|C563801||Fanconi Anemia, Complementation Group J|FANCJ
D004620||Embolism, Fat|Embolisms, Fat|Fat Embolism|Fat Embolisms
D042822||Genomic Instability|Genome Instabilities|Genome Instability|Genome Stabilities|Genome Stability|Genomic Instabilities|Genomic Stabilities|Genomic Stability|Instabilities, Genome|Instabilities, Genomic|Instability, Genome|Instability, Genomic|Stabilities, Genome|Stabilities, Genomic|Stability, Genome|Stability, Genomic
D005953||Glycogen Storage Disease Type I|Deficiencies, Glucose-6-Phosphatase|Deficiencies, Glucosephosphatase|Deficiency, Glucose-6-Phosphatase|Deficiency, Glucosephosphatase|Disease, Gierke|Disease, Gierke&apos;s|Disease, von Gierke|Disease, von Gierke&apos;s|Gierke Disease|Gierke&apos;s Disease|Gierkes Disease|Glucose-6-Phosphatase Deficiencies|Glucose 6 Phosphatase Deficiency|Glucose-6-Phosphatase Deficiency|Glucosephosphatase Deficiencies|Glucosephosphatase Deficiency|Glycogenosis 1|Glycogen Storage Disease 1 (GSD I)|Hepatorenal Glycogen Storage Disease|von Gierke Disease|von Gierke&apos;s Disease|von Gierkes Disease
D057085||Tooth Wear|Dental Wear|Dental Wears|Tooth Wears|Wear, Dental|Wears, Dental|Wears, Tooth|Wear, Tooth
C538387|145410||Hypertelorism with esophageal abnormality and hypospadias|Autosomal Dominant Opitz Syndrome (ADOS)|BBB SYNDROME|Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype|GBBB SYNDROME|G SYNDROME|Hypertelorism-Hypospadias Sydrome|Hypertelorism hypospadias syndrome|HYPERTELORISM-HYPOSPADIAS SYNDROME|Hypertelorism with Esophageal Abnormalities and Hypospadias|HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS|Hypospadias-dysphagia, syndrome|Hypospadias-Dysphagia Syndrome|OGS2|Opitz BBBG syndrome|Opitz BBB-G Syndrome|Opitz BBB Syndrome|Opitz-Frias syndrome|Opitz G-BBB Syndrome|Opitz GBBB Syndrome, Autosomal Dominant|Opitz GBBB Syndrome, Type II|Opitz G Syndrome|Opitz-G syndrome, type 2|Opitz-G Syndrome, Type II|Opitz Oculogenitolaryngeal Syndrome, Type II|TELECANTHUS-HYPOSPADIAS SYNDROME|Telecanthus with associated abnormalities
C562859||Vertigo, Benign Recurrent
C535270||Premature aging, Okamoto type
C562858||Cholesteatoma, Congenital
C563792|609122||Aneurysm, Intracranial Berry, 3|ANIB3
D016609||Neoplasms, Second Primary|Cancer, Second|Cancer, Second Primary|Cancers, Second|Cancers, Second Primary|Cancers, Therapy-Associated|Cancers, Therapy-Related|Cancers, Treatment-Associated|Cancers, Treatment-Related|Cancer, Therapy-Associated|Cancer, Therapy-Related|Cancer, Treatment-Associated|Cancer, Treatment-Related|Malignancies, Second|Malignancy, Second|Metachronous Neoplasm|Metachronous Neoplasms|Metachronous Second Primary Neoplasms|Neoplasm, Metachronous|Neoplasm, Second|Neoplasm, Second Primary|Neoplasms, Metachronous|Neoplasms, Metachronous Second Primary|Neoplasms, Second|Neoplasms, Therapy Associated|Neoplasms, Therapy-Associated|Neoplasms, Therapy Related|Neoplasms, Therapy-Related|Neoplasms, Treatment Associated|Neoplasms, Treatment-Associated|Neoplasms, Treatment Related|Neoplasms, Treatment-Related|Neoplasm, Therapy-Associated|Neoplasm, Therapy-Related|Neoplasm, Treatment-Associated|Neoplasm, Treatment-Related|Second Cancer|Second Cancers|Second Malignancies|Second Malignancy|Second Neoplasm|Second Neoplasms|Second Primary Cancer|Second Primary Cancers|Second Primary Neoplasm|Second Primary Neoplasms|Second Primary Neoplasms, Metachronous|Therapy Associated Cancer|Therapy-Associated Cancer|Therapy-Associated Cancers|Therapy-Associated Neoplasm|Therapy Associated Neoplasms|Therapy-Associated Neoplasms|Therapy Related Cancer|Therapy-Related Cancer|Therapy-Related Cancers|Therapy-Related Neoplasm|Therapy Related Neoplasms|Therapy-Related Neoplasms|Treatment Associated Cancer|Treatment-Associated Cancer|Treatment-Associated Cancers|Treatment-Associated Neoplasm|Treatment Associated Neoplasms|Treatment-Associated Neoplasms|Treatment Related Cancer|Treatment-Related Cancer|Treatment-Related Cancers|Treatment-Related Neoplasm|Treatment Related Neoplasms|Treatment-Related Neoplasms
D016603||Eosinophilia-Myalgia Syndrome|Eosinophilia Myalgia Syndrome|Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related|Eosinophilia-Myalgia Syndromes|Eosinophilia-Myalgia Syndromes, L-Tryptophan-Related|L-Tryptophan-Related Eosinophilia-Myalgia Syndrome|L-Tryptophan-Related Eosinophilia-Myalgia Syndromes|Syndrome, Eosinophilia-Myalgia|Syndrome, Eosinophilia-Myalgia, L-Tryptophan-Related|Syndrome, L-Tryptophan-Related Eosinophilia-Myalgia|Syndromes, Eosinophilia-Myalgia|Syndromes, L-Tryptophan-Related Eosinophilia-Myalgia
D016606||Thyroid Nodule|Nodules, Thyroid|Nodule, Thyroid|Thyroid Nodules
C535269||Preeyasombat Varavithya syndrome|Fanconi syndrome caused by degraded tetracycline
C536600|204000||Amaurosis congenita of Leber, type 1|Amaurosis Congenita Of Leber I|CRB|LCA|LCA1|Leber Congenital Amaurosis 1|Leber congenital amaurosis, type 1|Retinal blindness, congenital
C536599||Alzheimer&apos;s disease without Neurofibrillary tangles|Alzheimer Disease Without Neurofibrillary Tangles|Alzheimer&apos;s disease without Tau pathology
267430||RENAL TUBULAR DYSGENESIS|PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED|RTD
D016602||Needlestick Injuries|Injuries, Needlestick|Injuries, Needle-Stick|Injuries, Sharps|Injury, Needlestick|Injury, Needle-Stick|Injury, Sharps|Needlestick|Needle-Stick|Needle Stick Injuries|Needle-Stick Injuries|Needlestick Injury|Needle-Stick Injury|Needlesticks|Needle Sticks|Needle-Sticks|Sharps Injuries|Sharps Injury
D001528|109650||Behcet Syndrome|Adamantiades-Behcet Disease|BD|Behcet Disease|Beh&#231;et Disease|Behcet&apos;s Syndrome|Behcets Syndrome|Behcet Triple Symptom Complex|Old Silk Route Disease|Triple Symptom Complex|Triple-Symptom Complex
C535283||Rambaud Galian syndrome
C535436|158810||Bethlem myopathy|Benign Congenital Muscular Dystrophy|Benign Congenital Myopathy with Contractures|Muscular dystrophy, benign congenital|Myopathy, benign congenital, with contractures
C535285||Ramon Syndrome|Gingival fibromatosis combined with cherubism
C565718|610149||Macular Degeneration, Age-Related, 7|MACULAR DEGENERATION, AGE-RELATED, 7;ARMD7 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY|MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO, INCLUDED|TO, INCLUDED
C562632|219200||Cutis Laxa, Autosomal Recessive, Type IIA|ARCL2|ARCL2A|Cutis Laxa, Debre Type|Cutis Laxa With Bone Dystrophy|CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION|Cutis Laxa With Growth And Developmental Delay|Cutis Laxa With Joint Laxity And Retarded Development|Cutis Laxa With Or Without Congenital Disorder Of Glycosylation
C535284||Ramer Ladda syndrome|Humero-radial synostosis|Humeroradial Synostosis
C535287||Hunt&apos;s syndrome|Myoclonus and Ataxia|Ramsay Hunt Syndrome type 2
C535286||Ramos Arroyo Clark syndrome|Ramos Arroyo Syndrome
C566951|611451||Deafness, Autosomal Recessive 63|DFNB63
D017240|251900||Mitochondrial Myopathies|Disease, Luft|Disease, Luft&apos;s|Luft Disease|Luft&apos;s Disease|Lufts Disease|Megaconial Myopathies|Megaconial Myopathy|Mitochondrial Myopathy|Myopathies, Mitochondrial|Myopathies, Pleoconial|Myopathy, Megaconial|Myopathy, Pleoconial|Pleoconial Myopathies|Pleoconial Myopathy
C562866||Thromboxane Synthetase Deficiency
609148|D008288||Malaria|Fever, Marsh|Fever, Remittent|Infection, Plasmodium|Infections, Plasmodium|MALARIA, CEREBRAL, RESISTANCE TO, INCLUDED|MALARIA, CEREBRAL, SUSCEPTIBILITY TO, INCLUDED|MALARIA, MILD, SUSCEPTIBILITY TO|MALARIA, RESISTANCE TO, INCLUDED|MALARIA, SEVERE, RESISTANCE TO, INCLUDED|MALARIA, SEVERE, SUSCEPTIBILITY TO, INCLUDED|MALARIA, SUSCEPTIBILITY TO|MALS|Marsh Fever|Paludism|Plasmodium Infection|Plasmodium Infections|Remittent Fever
D057096||Shellfish Poisoning|Amnesic Shellfish Poisoning|Amnesic Shellfish Poisonings|Diarrhetic Shellfish Poisoning|Diarrhetic Shellfish Poisonings|Neurotoxic Shellfish Poisoning|Neurotoxic Shellfish Poisonings|Paralytic Shellfish Poisoning|Paralytic Shellfish Poisonings|Poisoning, Amnesic Shellfish|Poisoning, Diarrhetic Shellfish|Poisoning, Neurotoxic Shellfish|Poisoning, Paralytic Shellfish|Poisonings, Amnesic Shellfish|Poisonings, Diarrhetic Shellfish|Poisoning, Shellfish|Poisonings, Neurotoxic Shellfish|Poisonings, Paralytic Shellfish|Poisonings, Shellfish|Shellfish Poisoning, Amnesic|Shellfish Poisoning, Diarrhetic|Shellfish Poisoning, Neurotoxic|Shellfish Poisoning, Paralytic|Shellfish Poisonings|Shellfish Poisonings, Amnesic|Shellfish Poisonings, Diarrhetic|Shellfish Poisonings, Neurotoxic|Shellfish Poisonings, Paralytic
D057090||Eccrine Porocarcinoma|Eccrine Porocarcinomas|Eccrine Poroma, Malignant|Eccrine Poromas, Malignant|Malignant Eccrine Poroma|Malignant Eccrine Poromas|Porocarcinoma, Eccrine|Porocarcinomas, Eccrine|Poroma, Malignant Eccrine|Poromas, Malignant Eccrine
D004630||Emergencies|Emergency
D057091||Poroma|Apocrine Poroma|Apocrine Poromas|Eccrine Poroma|Hidracanthoma Simplex|Poroma, Apocrine|Poromas|Poromas, Apocrine|Simplex, Hidracanthoma
C562868||Posttransfusion Purpura
C535281||Radius absent anogenital anomalies|Radial Aplasia And Anogenital Anomalies|Radial aplasia, X-linked
D057092||Geographic Atrophy|Atrophies, Geographic|Atrophy, Geographic|Degeneration, Dry Macular|Degenerations, Dry Macular|Dry Macular Degeneration|Dry Macular Degenerations|Geographic Atrophies|Macular Degeneration, Dry|Macular Degenerations, Dry
C562869||Secretory Component Deficiency|Iga Deficiency, Secretory
C535280||Primary cortisol resistance
C565227|609800||Generalized Epilepsy With Febrile Seizures Plus, Type 4|GEFS+4|GEFSP4|GEFSP, Type 4|GEFS+, TYPE 4
607482|C564390||Cardiomyopathy, Dilated, 1M|CMD1M
D057088||Anetoderma|Anetoderma, Primary|Anetodermas|Anetoderma, Secondary|Anetodermas, Primary|Anetodermas, Secondary|Primary Anetoderma|Primary Anetodermas|Secondary Anetoderma|Secondary Anetodermas
D010040|166800||Otosclerosis|Otoscleroses|OTOSCLEROSIS 1|Otospongioses|Otospongiosis|OTS|OTSC1
C536366|300652||Angioma serpiginosum, X-linked|Angioma serpiginosum
C566498|609946||Deafness, Autosomal Recessive 47|DFNB47
C563688|609915||Cardiomyopathy, Dilated, 1q|CMD1Q
C537874||Larsen syndrome, recessive type|Autosomal Recessive Larsen Syndrome|Larsen Syndrome, Recessive
C536543||Vertebral body fusion overgrowth|Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance
C562830||Patent Ductus Venosus|Portosystemic Venous Shunt, Congenital
D021184||Nut Hypersensitivity|Allergies, Nut|Allergies, Tree Nut|Allergy, Nut|Allergy, Tree Nut|Hypersensitivities, Nut|Hypersensitivities, Tree Nut|Hypersensitivity, Nut|Hypersensitivity, Tree Nut|Nut Allergies|Nut Allergy|Nut Hypersensitivities|Nut Hypersensitivities, Tree|Nut Hypersensitivity, Tree|Tree Nut Allergies|Tree Nut Allergy|Tree Nut Hypersensitivities|Tree Nut Hypersensitivity
D004605||Elephantiasis, Filarial|Bancroftian Elephantiases|Bancroftian Elephantiasis|Elephantiases, Bancroftian|Elephantiases, Filarial|Elephantiasis, Bancroftian|Filarial Elephantiases|Filarial Elephantiasis|Filariases, Lymphatic|Filariasis, Lymphatic|Lymphatic Filariases|Lymphatic Filariasis
C536540||Verloes Van Maldergem Marneffe syndrome|Dominantly inherited bone dysplasia with severe eye involvement|Microspherophakia-metaphyseal dysplasia
D021183||Peanut Hypersensitivity|Allergies, Peanut|Allergy, Peanut|Groundnut Hypersensitivity|Hypersensitivity, Groundnut|Hypersensitivity, Peanut|Peanut Allergies|Peanut Allergy
D005935||Glucagonoma|Adenoma, alpha Cell|Adenoma, alpha-Cell|Adenomas, alpha-Cell|alpha-Cell Adenoma|alpha-Cell Adenomas|alpha Cell Tumor|alpha-Cell Tumor|alpha-Cell Tumors|Glucagonomas|Glucagonoma Syndrome|Glucagonoma Syndromes|Syndrome, Glucagonoma|Syndromes, Glucagonoma|Tumor, alpha-Cell|Tumors, alpha-Cell
250620|C562803||Beta-Hydroxyisobutyryl CoA Deacylase Deficiency|3-Hydroxyisobutyryl-CoA Hydrolase Deficiency|HIBCH Deficiency|Methacrylic Acid Toxicity|Methacrylic Aciduria|Valine Metabolic Defect
D004604||Elephantiasis|Bigfoot Disease|Bigfoot Diseases|Disease, Bigfoot|Disease, Microcrystal|Diseases, Bigfoot|Diseases, Microcrystal|Elephantiases|Elephantiases, Endemic|Elephantiases, Endemic Non-Filarial|Elephantiasis, Endemic|Elephantiasis, Endemic Non-Filarial|Elephantiasis Nostras Verrucosa|Elephantiasis Nostras Verrucosas|Endemic Elephantiases|Endemic Elephantiasis|Endemic Non-Filarial Elephantiases|Endemic Non Filarial Elephantiasis|Endemic Non-Filarial Elephantiasis|foot, Mossy|foots, Mossy|Lymphostatic Verrucoses|Lymphostatic Verrucosis|Microcrystal Disease|Microcrystal Diseases|Mossy foot|Mossy foots|Non-Filarial Elephantiases, Endemic|Non-Filarial Elephantiasis, Endemic|Nostras Verrucosa, Elephantiasis|Nostras Verrucosas, Elephantiasis|Podoconioses|Podoconiosis|Verrucosa, Elephantiasis Nostras|Verrucosas, Elephantiasis Nostras|Verrucoses, Lymphostatic|Verrucosis, Lymphostatic
C537872||Larsen like syndrome, lethal type|Larsen-like multiple joint dislocation syndrome|Larsen-Like Syndrome, Lethal Type
C536541||Verloove-Vanhorick Brubakk syndrome|Cleft Limb Heart Malformation Syndrome|Cleft-Limb-Heart Malformation Syndrome|Verloove Vanhorick Brubakk syndrome
D021182||Wheat Hypersensitivity|Allergies, Wheat|Allergy, Wheat|Hypersensitivities, Wheat|Hypersensitivity, Wheat|Wheat Allergies|Wheat Allergy|Wheat Hypersensitivities
C562833||Pulmonary Atresia With Ventricular Septal Defect
C562831||Atrioventricular Septal Defect
C562832||Pulmonary Atresia with Intact Ventricular Septum
C562838||Comedones, Familial Dyskeratotic
612954||MYOPATHY, MYOFIBRILLAR, 6|MFM6|MYOPATHY, MYOFIBRILLAR, BAG3-RELATED
C562835||Intestinal Malrotation, Familial
612953||PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE|DYSTONIA-PARKINSONISM, ADULT-ONSET|PARK14
611630||EPILEPSY, FAMILIAL TEMPORAL LOBE, 3|EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE|ETL3|FMTLE
607823|C564327||Hypotrichosis-Lymphedema-Telangiectasia Syndrome|HLTS
C537919|228300||Fertile eunuch syndrome
C537866||Oculocerebral hypopigmentation syndrome type Preus|Cross syndrome|Kramer Syndrome|Oculocerebral Hypopigmentation Syndrome of Preus|Oculocerebral syndrome with hypopigmentation
C536535||Vein of Galen aneurysm|Ectasia or varix of the vein of Galen|Galenic arteriovenous malformation|Galen vein aneurysm|Vein of Galen aneurysm malformation
C536536||Velofacioskeletal syndrome
C538324|246450||3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency|3-Hydroxy-3-Methylglutaric Aciduria|3-Hydroxy 3-Methyl Glutaric Aciduria|3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency|3-Hydroxyl 3-Methyl Glutaric Aciduria|Deficiency of Hydroxymethylglutaryl-CoA Lyase|HL DEFICIENCY|HMGCLD|HMGCL DEFICIENCY|HMG CoA Lyase Deficiency|HMG-CoA Lyase Deficiency|Hydroxymethylglutaric Aciduria
C536533||Vasquez Hurst Sotos syndrome
D011565|177900||Psoriasis|Palmoplantaris Pustulosis|Psoriases|PSORIASIS SUSCEPTIBILITY 1|PSORIASIS SUSCEPTIBILITY 10|PSORIASIS SUSCEPTIBILITY 11|PSORIASIS SUSCEPTIBILITY 12|PSORIASIS SUSCEPTIBILITY 2|PSORIASIS SUSCEPTIBILITY 3|PSORIASIS SUSCEPTIBILITY 4|PSORIASIS SUSCEPTIBILITY 5|PSORIASIS SUSCEPTIBILITY 6|PSORIASIS SUSCEPTIBILITY 7|PSORIASIS SUSCEPTIBILITY 8|PSORIASIS SUSCEPTIBILITY 9|PSORS1|PSORS10|PSORS11|PSORS12|PSORS2|PSORS3|PSORS4|PSORS5|PSORS6|PSORS7|PSORS8|PSORS9|Pustular Psoriasis of Palms and Soles|Pustulosis of Palms and Soles|Pustulosis Palmaris et Plantaris
C537865||Oculoauriculofrontonasal syndrome|Oculoauriculofrontonasal dysplasia
C536539||Verloes Gillerot Fryns syndrome|Cerebro-Acro-Visceral Early lethality multiplex syndrome
C536537||Ventricular extrasystoles perodactyly Robin sequence
612581|C567240||Mental Retardation, Autosomal Dominant 4|MRD4
C537869||Laplane Fontaine Lagardere syndrome|Familial syndesmodysplasic dwarfism|Syndesmodysplasic Dwarfism
C536538||Verloes Bourguignon syndrome|Platyspondyly with amelogenesis imperfecta|Skeletal dysplasia with amelogenesis imperfecta and platyspondyly
D004618||Embolism, Air|Air Embolism|Air Embolisms|Embolism, Gas|Embolisms, Air|Embolisms, Gas|Gas Embolism|Gas Embolisms
176620|C531791||Priapism, familial idiopathic|Familial idiopathic priapism
D004617||Embolism|Embolisms|Embolus
C536550||Tricho-dento-osseous syndrome 1
D004619||Embolism, Amniotic Fluid|Amniotic Fluid Embolism|Amniotic Fluid Embolisms|Embolisms, Amniotic Fluid
D004614||Emaciation|Emaciations
C536553||Trichofolliculoma|Congenital trichofolliculoma|Recurrent trichofolliculoma|Sebaceous trichofolliculoma
C562840||Breast Cancer, Familial
C537885||Peters anomaly with cataract
C536554||Oliver-McFarlane syndrome|Congenital trichomegaly, pigmentary retinal degeneration, and short stature|Eyelashes long mental retardation|Oliver McFarlane syndrome|Trichomegaly retina pigmentary degeneration dwarfism
C562841||Ovarian Germ Cell Cancer
C537882||Laurence Prosser Rocker syndrome
C536551||Trichodental syndrome|Tricho-dental dysplasia|Trichodental dysplasia|Tricho-dental syndrome
300558|C563146||Mental Retardation, X-Linked 30|MENTAL RETARDATION, X-LINKED 47|MRX30|MRX47
606049|C535656||Acromegaloid features, overgrowth, cleft palate, and hernia|AOCH
C563660|610828||Holoprosencephaly 7|HPE7
D004612||Elliptocytosis, Hereditary|Elliptocytoses, Hereditary|Hereditary Elliptocytoses|Hereditary Elliptocytosis|Hereditary Ovalocytoses|Hereditary Ovalocytosis|Ovalocytoses, Hereditary|Ovalocytosis, Hereditary
C535600|223360||dopamine beta hydroxylase deficiency|Congenital dopamine beta hydroxylase deficiency|dopamine beta-hydroxylase deficiency|Dopamine beta Hydroxylase Deficiency, Congenital|DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL|dopamine b-hydroxylase|Noradrenaline deficiency|Norepinephrine deficiency
C537877||Late-onset congenital adrenal hyperplasia|Attenuated congenital adrenal hyperplasia|LOCAH|NCCAH|Non classic congenital adrenal hyperplasia
D021181||Egg Hypersensitivity|Allergies, Egg|Allergy, Egg|Egg Allergies|Egg Allergy|Egg Hypersensitivities|Hypersensitivities, Egg|Hypersensitivity, Egg
609308||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1|LGMD2K|MDDGC1|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
C537878||Lateral meningocele syndrome|Lehman Syndrome
C537875||Laryngeal cleft|Anterior submucous laryngeal cleft|Congenital laryngeal clefts|Posterior laryngeal cleft (PLC)
C536544||Treft Sanborn Carey syndrome|Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy
C537876||Laryngeal papillomatosis|Juvenile laryngeal papillomatosis|Recurrent laryngeal papillomatosis|Warts in the throat
C537879||Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
C567925|147060||Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant|HIES, AUTOSOMAL DOMINANT|HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT|JOB SYNDROME
C536549||Tricho-dento-osseous syndrome|Trichodentoosseous Syndrome
C537891||Pfeiffer Tietze Welte syndrome
C537892||PHACE association|PHACES association
D005918||Glomus Tumor|Glomangioma|Glomangiomas|Glomus Tumors|Tumor, Glomus|Tumors, Glomus
C537890||Pfeiffer Rockelein syndrome|Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia
600955||PROPROTEIN CONVERTASE 1/3 DEFICIENCY|OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES
C565089||Doughnut Lesions of Skull, Familial
C537895||Phenol sulfotransferase deficiency
C536564||Triphalangeal thumbs brachyectrodactyly|Triphalangeal thumb and brachy-ectrodactyly syndrome|Triphalangeal thumb and brachyectrodactyly syndrome|Triphalangeal Thumbs with Brachyectrodactyly
D005911||Gliosis|Astrocytosis|Glioses
C536565||Trueb Burg Bottani syndrome|Ectodermal dysplasia with corkscrew hairs|Tricho-odonto-onychodysplasia with syndactyly
C537893||Phacomatosis pigmentokeratotica
C536562||Triphalangeal thumb non opposable|Non-opposable triphalangeal thumb|Triphalangeal Thumb, Nonopposable
C537894||Phacomatosis pigmentovascularis
C535493|609638||Epidermolysis bullosa, lethal acantholytic|EBLA
612936||SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE|CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY|CPSQ3, FORMERLY|SPG50
C562816||Harderoporphyria
C565240|606263||Paget Disease Of Bone 4|PDB4
C565090||Double Nail for Fifth Toe
C562818||Glutaric Aciduria III|Glutaryl-CoA Oxidase Deficiency
D008199||Lymphadenitis|Adenitides|Adenitis|Lymphadenitides
C563295|601543||Deafness, Autosomal Dominant 12|Deafness, Autosomal Dominant 8|DFNA12|DFNA8
C567218|612637||Febrile Convulsions, Familial, 10|CONVULSIONS, FAMILIAL FEBRILE, 10|FEB10|FEBRILE SEIZURES, FAMILIAL, 10|Seizures, Familial Febrile, 10
C537888||Pfeiffer Mayer syndrome
C536557||Trichoscyphodysplasia|Cupped metaphyses and cone-shaped epiphyses with alopecia|Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia|Metaphyseal chondrodysplasia with ectodermal dysplasia
C565097||Digitotalar Dysmorphism|Ulnar Drift, Hereditary
C537889||Pfeiffer Palm Teller syndrome|Pfeiffer-Palm-Teller Syndrome
C536558||Trichostasis spinulosa
D008193||Lyme Disease|Arthritis, Lyme|Borreliosis, Lyme|Disease, Lyme|Lyme Arthritis|Lyme Borreliosis
C565098||Diastema, Dental Medial
C537886||Petty Laxova Wiedemann syndrome
C537093|113100||Brachydactyly type C|BDC|Brachydactyly Haws type|Brachydactyly, Haws Type|Brachydactyly, Type C
C565099||Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
C537887||Pfeiffer Kapferer syndrome|Short stature, mental retardation and multiple dysmorphisms
C536556||Trichorrhexis nodosa syndrome|Pollitt syndrome|Trichothiodystrophy-neurocutaneous syndrome|Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt
C565092||Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
C565093||Distal Osteosclerosis|Osteosclerosis, Distal
C565094||Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
C565095||Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency|DHFR Deficiency
C536571||Boerhaave syndrome|Boerhaave&apos;s syndrome|Boerhave syndrome
D005926||Glossalgia|Glossalgias|Glossodynia|Glossodynias|Glossopyroses|Glossopyrosis
C536572||Bone Marrow failure syndromes
D005929||Glossitis, Benign Migratory|Benign Migratory Glossitis|Geographic Tongue|Glossitis Areata Exfoliativa|Migratory Glossitis, Benign|Tongue, Geographic
D006976|178600||Hypertension, Pulmonary|PHT|PPH1|PPH1 WITH HHT, INCLUDED|PULMONARY ARTERIAL HYPERTENSION;PAH PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED|Pulmonary Hypertension|PULMONARY HYPERTENSION, PRIMARY, 1|PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA, INCLUDED|PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED
D005928||Glossitis|Glossitides
C536576||Bork Stender Schmidt syndrome|Bork syndrome|Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
D005925||Glomus Jugulare Tumor|Glomus Jugulare Tumors|Glomus Tumors, Familial, 1|Jugulare Tumor, Glomus|Jugulare Tumors, Glomus|Tumor, Glomus Jugulare|Tumors, Glomus Jugulare
612929||MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3|MTBS3
C536574||Bor-Duane hydrocephalus contiguous gene syndrome|Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome
C562823||Milia, Multiple Eruptive
D005921||Glomerulonephritis|Bright Disease|Glomerulonephritides
D014849|148820||Waardenburg Syndrome|Klein&apos;s Syndrome|Kleins Syndrome|Klein Syndrome|Klein Waardenburg Syndrome|Klein-Waardenburg Syndrome|Syndrome, Klein|Syndrome, Klein&apos;s|Syndrome, Klein-Waardenburg|Syndrome, Waardenburg|Syndrome, Waardenburg-Klein|Syndrome, Waardenburg&apos;s|Waardenburg Klein Syndrome|Waardenburg-Klein Syndrome|Waardenburg&apos;s Syndrome|Waardenburgs Syndrome|Waardenburg&apos;s Syndrome Type 1|Waardenburg Syndrome Type 1|Waardenburg Syndrome, Type 1|Waardenburg Syndrome Type 3|Waardenburg Syndrome, Type 3|Waardenburg Syndrome, Type III|Waardenburg Syndrome with Dystopia Canthorum|Waardenburg Syndrome with Upper Limb Anomalies|White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations|WS1|WS3
C562827||Alacrima
C562824||Poikiloderma, Hereditary Sclerosing
C563365|601228||Polyposis Syndrome, Hereditary Mixed, 1|CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB|Colorectal Adenoma and Carcinoma 1|COLORECTAL ADENOMA AND CARCINOMA 1;CRAC1 COLORECTAL CANCER, SUSCEPTIBILITY TO, 4, INCLUDED|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15, INCLUDED|CRCS4, INCLUDED|HMPS1
C537899||Baker Vinters syndrome|Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies
C536568||Walker Dyson syndrome|Aniridia associated with mental retardation and other eye abnormalities
D054853||Malignant Atrophic Papulosis|Atrophic Papuloses, Malignant|Atrophic Papulosis, Malignant|Degos Disease|Degos&apos;s Malignant Atrophic Papulosis|Degos Syndrome|Disease, Degos|Disease, Kohlmeier-Degos|Erythrokeratoderma en cocardes|Kohlmeier-Degos Disease|Malignant Atrophic Papuloses|Papuloses, Malignant Atrophic|Papulosis, Malignant Atrophic|Syndrome, Degos
C537897||Phosphoribosylpyrophosphate synthetase deficiency
C536566||Walbaum Titran Durieux Crepin syndrome
C536567||Waldmann disease|Familial Waldmann&apos;s disease|Primary intestinal lymphangiectasis|Waldmann&apos;s disease
D054850||Osteophyte|Bone Spur|Bone Spurs|Osteophytes|Spur, Bone|Spurs, Bone
C536864|182600||Spastic paraplegia 3, autosomal dominant|Familial spastic paraplegia, autosomal dominant, 1|FSP1|SPG3|SPG3A|Strumpell disease
C536595|104310||Alzheimer disease type 2|AD2|Alzheimer Disease 2|Alzheimer Disease 2, Late-Onset|Alzheimer Disease Associated With Apoe4|Alzheimer disease associated with APOE E4|Late onset familial Alzheimer disease
C565067||Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
C567227|612632||Usher Syndrome, Type IH|USH1H
C565068||Ectodermal Dysplasia, Trichoodontoonychial Type
C537830||Macrosomia with lethal microphthalmia|Macrosomia microphthalmia cleft palate|Macrosomia with Microphthalmia, Lethal|Teebi Al-Saleh Hassoon syndrome
C565069||Orofacial Cleft 8
D042882||Gallstones|Biliary Calculi|Biliary Calculi, Common Bile Duct|Calculi, Biliary|Common Bile Duct Calculi|Common Bile Duct Gallstones|Common Bile Duct Gall Stones|Gallstone|Gall Stone|Gall Stones|Gallstones, Common Bile Duct|Gall Stones, Common Bile Duct
D042883||Choledocholithiasis|Cholelithiasis, Common Bile Duct
215500|C535358||Choroidal dystrophy central areolar|CACD|CACD1|Central areolar choroidal sclerosis|Choroidal Dystrophy, Central Areolar|Choroidal Dystrophy, Central Areolar 1|Choroidal sclerosis
D008169||Lung Abscess|Abscesses, Lung|Abscesses, Pulmonary|Abscess, Lung|Abscess, Pulmonary|Lung Abscesses|Pulmonary Abscess|Pulmonary Abscesses
612160|C563181||Histiocytoma, Angiomatoid Fibrous
D010488||Polyarteritis Nodosa|Arteritides, Necrotizing|Arteritis, Necrotizing|Essential Polyarteritides|Essential Polyarteritis|Necrotizing Arteritides|Necrotizing Arteritis|Periarteritis Nodosa|Polyarteritides, Essential|Polyarteritis, Essential
D008178||Lupus Erythematosus, Cutaneous|Cutaneous Lupus Erythematosus|Lupus Erythematosus, Cutaneous, Subacute|Lupus Erythematosus, Subacute Cutaneous
D008179||Lupus Erythematosus, Discoid|Discoid Lupus Erythematosus|Lupus Erythematosus, Chronic Cutaneous|Lupus Erythematosus, Cutaneous, Chronic
C537828||Chromosome 8, monosomy 8q|Deletion 8q|Monosomy 8q
C537829||Macrophagic myofasciitis|Macrophagic myofasciitis, childhood
D010489||Periarthritis|Periarthritides
D008177||Lupus Vulgaris
D008174||Lung Diseases, Parasitic|Lung Disease, Parasitic|Lung Parasitic Infection|Lung Parasitic Infections|Parasitic Infection, Pulmonary|Parasitic Infections of Lung|Parasitic Infections, Pulmonary|Parasitic Lung Disease|Parasitic Lung Diseases|Pulmonary Parasitic Infection|Pulmonary Parasitic Infections
C563882|608658||Prostate Cancer, Hereditary, 4|HPC4|Prostate Cancer, Hereditary, on Chromosome 7
D008172||Lung Diseases, Fungal|Fungal Disease, Pulmonary|Fungal Diseases, Pulmonary|Fungal Infection, Pulmonary|Fungal Infections, Pulmonary|Fungal Lung Disease|Fungal Lung Diseases|Lung Disease, Fungal|Pulmonary Fungal Disease|Pulmonary Fungal Diseases|Pulmonary Fungal Infection|Pulmonary Fungal Infections
D008173||Lung Diseases, Obstructive|Lung Disease, Obstructive|Obstructive Lung Disease|Obstructive Lung Diseases|Obstructive Pulmonary Disease|Obstructive Pulmonary Diseases|Pulmonary Disease, Obstructive|Pulmonary Diseases, Obstructive
C537822||Chromosome 7, trisomy mosaic|Trisomy 7 mosaicism|Uniparental disomy of 7
C537823||Chromosome 8 deletion|Deletions of chromosome 8
D052202||Hydrocolpos
D008171||Lung Diseases|Disease, Lung|Disease, Pulmonary|Diseases, Lung|Diseases, Pulmonary|Lung Disease|Pulmonary Disease|Pulmonary Diseases
C565076||Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas|Osteochondromatosis, Dominant Carpotarsal
C537820||Chromosome 7, trisomy 7p13 p12 2|Duplication 7p13 p12.2|Trisomy 7p13 p12 2
D010482||Periapical Abscess|Abscess, Apical Alveolar|Abscess, Apical Dentoalveolar|Abscesses, Apical Alveolar|Abscesses, Apical Dentoalveolar|Abscesses, Periapical|Abscess, Periapical|Alveolar Abscess, Apical|Alveolar Abscesses, Apical|Apical Alveolar Abscess|Apical Alveolar Abscesses|Apical Dentoalveolar Abscess|Apical Dentoalveolar Abscesses|Dentoalveolar Abscess, Apical|Dentoalveolar Abscesses, Apical|Periapical Abscesses|Periapical Periodontitides, Suppurative|Periapical Periodontitis, Suppurative|Periodontitides, Suppurative Periapical|Periodontitis, Apical, Suppurative|Periodontitis, Suppurative Periapical|Suppurative Periapical Periodontitides|Suppurative Periapical Periodontitis
C535715|605726||Spinal muscular atrophy, Jerash type|DSMA2|Hereditary motor neuropathy, Jerash type|HMNJ|Motor neuropathy, distal, Jerash type|Neuronopathy, Distal Hereditary Motor, Jerash Type|Neuropathy, distal hereditary motor, Jerash type|Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2|SPINAL MUSCULAR ATROPHY, JERASH TYPE
C565077||Diffuse Lewy Body Disease with Gaze Palsy
C537821||Chromosome 7, trisomy 7q|Duplication 7q|Trisomy 7q
C565070||Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
C537826||Chromosome 8p deletion syndrome (partial)|8p deletion syndrome (partial)|8p- syndrome (partial)|Chromosome 8, monosomy 8p2|Chromosome 8, monosomy 8p21-pter|Chromosome 8, partial deletion (short arm)|Chromosome 8, partial monosomy 8p2
D010484||Periapical Granuloma|Dental Granuloma|Dental Granulomas|Granuloma, Dental|Granuloma, Periapical|Granulomas, Dental|Granulomas, Periapical|Periapical Granulomas|Periapical Periodontitis, Chronic Nonsuppurative|Periodontitis, Apical, Chronic Nonsuppurative
C537827||Chromosome 8, monosomy 8p23 1|Deletion 8p23 1|Monosomy 8p23 1
D010483||Periapical Diseases|Disease, Periapical|Diseases, Periapical|Periapical Disease
C537824||Chromosome 8 ring|Ring chromosome 8
C537825||Chromosome 8, monosomy 8p|Deletion 8p|Monosomy 8p
D010485||Periapical Periodontitis|Acute Nonsuppurative Periodontitides|Acute Nonsuppurative Periodontitis|Apical Periodontitides|Apical Periodontitis|Nonsuppurative Periodontitides, Acute|Nonsuppurative Periodontitis, Acute|Periapical Periodontitides|Periodontitides, Acute Nonsuppurative|Periodontitides, Apical|Periodontitides, Periapical|Periodontitis, Acute Nonsuppurative|Periodontitis, Apical|Periodontitis, Periapical
300604|C564476||Premature Ovarian Failure 2b|POF2B
D005901||Glaucoma|Glaucomas
C565078||Lewy Body Variant of Alzheimer Disease
C537840||Mal de debarquement|Mal de debarquement syndrome
193510|C536464||Waardenburg syndrome type 2A|Waardenburg Syndrome, Type 2A|Waardenburg Syndrome, Type IIA|Waardenburg Syndrome Without Dystopia Canthorum|WS2|WS2A
D005902||Glaucoma, Open-Angle|Compensated Glaucoma|Compensated Glaucomas|Compensative Glaucoma|Compensative Glaucomas|Glaucoma, Compensated|Glaucoma, Compensative|Glaucoma, Open Angle|Glaucoma, Pigmentary|Glaucomas, Compensated|Glaucomas, Compensative|Glaucoma, Simple|Glaucoma Simplex|Glaucomas, Open Angle|Glaucomas, Open-Angle|Glaucomas, Pigmentary|Glaucomas, Simple|Open Angle Glaucoma|Open-Angle Glaucoma|Open Angle Glaucomas|Open-Angle Glaucomas|Pigmentary Glaucoma|Pigmentary Glaucomas|Simple Glaucoma|Simple Glaucomas|Simplex, Glaucoma|Simplices, Glaucoma
611100|C567011||Prostate Cancer, Hereditary, 10|HPC10
D003057|133540||Cockayne Syndrome|COCKAYNE SYNDROME A|COCKAYNE SYNDROME B|Cockayne Syndrome, Group A|Cockayne Syndrome, Group B|Cockayne Syndrome, Group C|Cockayne Syndrome Type 3|Cockayne Syndrome, Type A|Cockayne Syndrome, Type B|Cockayne Syndrome Type C|Cockayne Syndrome, Type C|Cockayne Syndrome, Type I|Cockayne Syndrome, Type II|Cockayne Syndrome, Type III|CSA|CSB|Dwarfism-Retinal Atrophy-Deafness Syndrome|Group A Cockayne Syndrome|Group B Cockayne Syndrome|Group C Cockayne Syndrome|Progeria Like Syndrome|Progeria-Like Syndrome|Progeria-Like Syndromes|Progeroid Nanism|Syndrome, Cockayne|Syndrome, Progeria-Like|Type A Cockayne Syndrome|Type B Cockayne Syndrome|Type C Cockayne Syndrome|Type I Cockayne Syndrome|Type II Cockayne Syndrome|Type III Cockayne Syndrome
608096||EPILEPSY, FAMILIAL TEMPORAL LOBE, 2|ETL2|FTLE
607346|C537198||Spinocerebellar ataxia 19|SCA19|SCA22|SPINOCEREBELLAR ATAXIA 22
C562806||Glycogen Storage Disease Id|GSD1d
C565080||Dyschondrosteosis and Nephritis
C536509||Theodor Hertz Goodman syndrome|Symphalangism, short stature, skeletal anomalies, and accessory testis
D008185||Lutembacher Syndrome|Lutembacher&apos;s Syndrome|Lutembachers Syndrome|Syndrome, Lutembacher|Syndrome, Lutembacher&apos;s
C565316|605594||Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1|DFNA39/Dentinogenesis Imperfecta 1 Syndrome|DFNA39/DGI1 SYNDROME|DGI1/DFNA39 SYNDROME
C536502||Tetrasomy X|48 XXXX|48 XXXX syndrome
D008181||Lupus Nephritis|Glomerulonephritides, Lupus|Glomerulonephritis, Lupus|Lupus Glomerulonephritides|Lupus Glomerulonephritis|Lupus Nephritides|Nephritides, Lupus|Nephritis, Lupus
C565086||Duodenal Ulcer, Hyperpepsinogenemic I
C536503||Thakker Donnai syndrome|Dysmorphic facial features and multiple structural abnormalities|Dysmorphism multiple structural anomalies
D010490||Pericardial Effusion|Chylopericardium|Chylopericardiums|Effusion, Pericardial|Effusions, Pericardial|Hemopericardium|Pericardial Effusions
C536500||Tetraamelia multiple malformations|Zimmer phocomelia|Zimmer Taub Sova syndrome
D010493||Pericarditis|Pleuropericarditis
C565088||Drusen, Radial, Autosomal Dominant
C536501||Tetralogy of fallot and glaucoma|Familial tetralogy of fallot and glaucoma
C567379|612260||MYD88 Deficiency|MYD88D|Pyogenic Bacterial Infections, Recurrent, Due To MYD88 Deficiency|Recurrent Pyogenic Bacterial Infections Due To MYD88 Deficiency
D005909||Glioblastoma|Astrocytoma, Grade IV|Astrocytomas, Grade IV|Giant Cell Glioblastoma|Giant Cell Glioblastomas|Glioblastoma, Giant Cell|Glioblastoma Multiforme|Glioblastomas|Glioblastomas, Giant Cell|Grade IV Astrocytoma|Grade IV Astrocytomas
C537837||Benign symmetrical lipomatosis|Launois-Bensaude syndrome
C536506||Thanatophoric dysplasia Glasgow variant|Neonatally lethal short-limb skeletal dysplasia, glasgow type|Thanatophoric Dysplasia, Glasgow Variant
D010495||Pericarditis, Tuberculous|Pericarditides, Tuberculous|Tuberculous Pericarditides|Tuberculous Pericarditis
C535532|300048||Congenital idiopathic intestinal pseudoobstruction|CIIP|CIIPX|CIIP, X-LINKED|CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION|Intestinal pseudoobstruction chronic idiopathic|Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement|INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED|Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|IPOX
C537838||Madokoro Ohdo Sonoda syndrome|Tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality
D010494||Pericarditis, Constrictive|Constrictive Pericarditides|Constrictive Pericarditis|Heart Pick&apos;s Disease|Pericarditides, Constrictive|Pick Disease, Heart|Pick Disease of Heart|Picks Disease, Heart|Pick&apos;s Disease of Heart
C565083||Dupuytren Contracture 1
C536504||Thalamic degeneration symmetrical infantile|Symmetrical infantile thalamic degeneration|Thalamic Degeneration, Symmetric Infantile
D010497||Pericoronitis|Pericoronitides
C565084||Plantar Fibromatosis, Familial|Plantar Fibromas
C537836||Macules hereditary congenital hypopigmented and hyperpigmented|Congenital hypomelanotic and hypermelanotic macules|Hereditary congenital hypopigmented and hyperpigmented macules|Macules, Hereditary Congenital Hypopigmented and Hyperpigmented|Westerhof Beemer Cormane syndrome
203750|C535434||Beta ketothiolase deficiency|2-Alpha-Methyl-3-Hydroxybutyricacidemia|2-methyl-3-hydroxybutyricacidemia|2-Methyl-3-Hydroxybutyric Acidemia|3-Alpha-Ketothiolase Deficiency|3-Alpha-Ktd Deficiency|3-Alpha-Oxothiolase Deficiency|3-ketothiolase deficiency|3-KTD DEFICIENCY|3-Methylhydroxybutyric Acidemia|3-oxothiolase deficiency|Alpha-methylacetoaceticaciduria|Alpha-Methylacetoacetic Aciduria|Beta-Ketothiolase Deficiency|B-Ketothiolase Deficiency|MAT DEFICIENCY|Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated|Mitochondrial Acetoacetyl-CoA Thiolase deficiency|T2 Deficiency
C565049||Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase
611105|C567009||Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation|LBSL|Mitochondrial Aspartyl-tRNA Synthetase Deficiency
C562587|613179||Purine Nucleoside Phosphorylase Deficiency|Nucleoside Phosphorylase Deficiency|PNP Deficiency
C566376||Tsukahara Syndrome|Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation
C537851||Novak syndrome|Cleft larynx, posterior|Laryngotracheoesophageal cleft pulmonary hypoplasia
C566377||Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects
C537852||Nuchal bleb, familial|Cystic hygroma, fetal|Familial nuchal bleb|Fetal cystic hygroma
C566378||Osteosclerotic Chondrodysplasia, Lethal, With Intracellular Inclusions
C566379||Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
C565101|125850||Maturity-Onset Diabetes of the Young, Type 1|Mild Juvenile Diabetes Mellitus|MODY1|MODY, Type 1
C564741|277450||Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1|Factors II, VII, IX, And X, Combined Deficiency Of|Familial Multiple Coagulation Factor Deficiency III|FMFD III|Glutamic Acid, Deficient Gamma-Carboxylation Of|MCFD3|Multiple Coagulation Factor Deficiency III|Vitamin K-Dependent Coagulation Defect|VKCFD|VKCFD1
C566716|180104||Retinitis Pigmentosa 9|RP9
204870|C535480||Corneal dystrophy, gelatinous drop-like|Amyloid corneal dystrophy, Japanese type|Amyloidosis, corneal|CDGDL|Corneal amyloidosis|Corneal dystrophy, Lattice type 3|Corneal Dystrophy, Lattice Type III|GDLD|Gelatinous drop-like corneal dystrophy|Lattice corneal dystrophy type3|Lattice Corneal Dystrophy, Type III|Primary familial amyloidosis of the cornea
C536519||Thrombocytopenia chromosome breakage|Helmerhorst Heaton Crossen syndrome|Thrombocytopenia 2|Thrombocytopenia, autosomal dominant|Thrombocytopenia, Autosomal Dominant, 2
D010468||Perceptual Disorders|Discrimination Disorder, Somatosensory|Discrimination Disorders, Somatosensory|Hemisensory Neglect|Hemisensory Neglects|Hemispatial Neglect|Hemispatial Neglects|Neglect, Hemisensory|Neglect, Hemispatial|Neglect, Sensory|Neglects, Hemisensory|Perceptual Disorder|Sensory Neglect|Sensory Neglects|Somatosensory Discrimination Disorder|Somatosensory Discrimination Disorders
607091|C535753||Congenital disorder of glycosylation type 2D|CDG2D|CDGIId|CDG IId|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId
D008151||Lown-Ganong-Levine Syndrome|Lown Ganong Levine Syndrome|Short PR Normal QRS Complex Syndrome|Short PR-Normal QRS Complex Syndrome|Syndrome, Lown-Ganong-Levine
C537844||Nonseminomatous germ cell tumor|Non-seminomatous germ-cell tumors
C536513||Thomas Jewett Raines syndrome
C537845||Nonsyndromic sensorineural hearing loss|Autosomal dominant nonsyndromic hereditary hearing impairment|Nonsyndromic hereditary hearing impairment
C536514||Thomas syndrome
C537095|112410||Brachydactyly with hypertension|Bilginturan syndrome|Brachydactyly type E with short stature and hypertension|Brachydactyly, Type E, With Short Stature And Hypertension|BRACHYDACTYLY WITH HYPERTENSION|HTNB|Hypertension With Brachydactyly
C536511||Schweitzer Kemink Graham syndrome|Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia|Thickened earlobes with conductive deafness from incus-stapes abnormalities
C566386||Thyroid Adenoma, Hyperfunctioning|Thyroid Carcinoma With Thyrotoxicosis
C536512||Thiopurine S methyltranferase deficiency|6 alpha mercaptopurine sensitivity|Thiopurine methyltransferase deficiency|Thiopurine S-Methyltransferase Deficiency|Thiopurines, poor metabolism of|TPMT deficiency
C536517||Thoracolaryngopelvic dysplasia|Autosomal dominant thoracolaryngopelvic dysplasia|Barnes syndrome
C566380||Osebold Skeletal Dysplasia Osteolysis Syndrome
C565409|248900||MAST Syndrome|Spastic Paraplegia 21, Autosomal Recessive|SPG21
C537846||Noonan like syndrome|Noonan-like/multiple giant cell lesion syndrome|Noonan Syndrome With Pigmented Villonodular Synovitis
C536515||Thompson Baraitser syndrome
C565051||Epiblepharon of Upper Lid|Epiblepharon of Lower Lid
C564524|300372||Mental Retardation, X-Linked 42|MRX42
C536516||Thoraco limb dysplasia Rivera type|Rivera Perez Salas syndrome
C566387||Peroxisome Biogenesis Disorder, Complementation Group 9
C537862||Ochronosis, hereditary|Hereditary ochronosis
C536531||Orofaciodigital syndrome 6|OFD6|OFDS VI|Oral-facial-digital syndrome, type 6|Oral-Facial-Digital Syndrome, Type VI|Orofaciodigital Syndrome VI|Polydactyly, Cleft Lip/Palate or Lingual Lump, and Psychomotor Retardation|Varadi Papp syndrome|Varadi-Papp Syndrome|Varadi Syndrome
C566388||Peroxisome Biogenesis Disorder, Complementation Group D
C536530||Van Maldergem Wetzburger Verloes syndrome|Cerebro-facio-articular syndrome|Cerebrofacioarticular syndrome|Cerebro-facio-articular syndrome of Van Maldergem|Van Maldergem syndrome
C537863|300500||Ocular Albinism type 1|Albinism, Ocular, Type I|Nettleship-Falls type ocular albinism|OA1
C567862|612921||Three M Syndrome 2|3M2|3M SYNDROME 2
113900||PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA|BUNDLE BRANCH BLOCK|CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED|CARDIAC CONDUCTION DEFECT, PROGRESSIVE|HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I|HEREDITARY BUNDLE BRANCH SYSTEM DEFECT;HBBD HEART BLOCK, NONPROGRESSIVE, INCLUDED|LENEGRE-LEV DISEASE|PCCD|PFHB1A|PFHBI|PFHBIA
D008158||Ludwig&apos;s Angina|Angina, Ludwig&apos;s|Ludwig Angina|Ludwigs Angina
C563008|261750||Glycogen Storage Disease IXB|Glycogenosis Of Liver And Muscle, Autosomal Recessive|GSD9B|GSD IXB|Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive
C567656|610185||Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2|CAMRQ2|Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 2
D009497||Neurotic Disorders|Disorder, Neurotic|Disorders, Neurotic|Neuroses|Neurotic Disorder|Psychoneuroses
D008166||Lumpy Skin Disease|Disease, Lumpy Skin|Diseases, Lumpy Skin|Lumpy Skin Diseases|Skin Disease, Lumpy|Skin Diseases, Lumpy
D009494||Neurosyphilis|Asymptomatic Neurosyphilis|Central Nervous System Syphilis|General Paralyses|General Paralysis|General Pareses|General Paresis|General Paresis of the Insane|Gummatous Neurosyphilis|Juvenile Neurosyphilis|Juvenile Pareses|Juvenile Paresis|Neurosyphilis, Asymptomatic|Neurosyphilis, Gummatous|Neurosyphilis, Juvenile|Neurosyphilis, Paretic|Neurosyphilis, Secondary|Neurosyphilis, Symptomatic|Paralyses, General|Paralysis, General|Pareses, General|Pareses, Juvenile|Paresis, General|Paresis, Juvenile|Paretic Neurosyphilis|Secondary Neurosyphilis|Syphilis, Central Nervous System|Syphilis, CNS
C537042|300700||Albinism deafness syndrome|ADFN|Albinism-Deafness Syndrome|ALDS
C565063||Edema, Familial Idiopathic, Prepubertal
C536524||Valinemia|Hypervalinemia|Valine transaminase deficiency
C565064||Ectrodactyly-Cleft Palate Syndrome
C536525||Valproic acid antenatal infection|Dalpro, Fetal Effects From|Epival, Fetal Effects From|Fetal valproate syndrome|Fetal valproic syndrome|Valproic acid embryopathy
D053565||Hypercalciuria
C565065||Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
C536522||Vacuolar myopathy|Autophagic vacuolar myopathy|Myopathy, Autophagic Vacuolar, Infantile-Onset
C536523||Vagina, absence of|Absence of vagina
C566391||Erythrokeratodermia Variabilis, Autosomal Recessive
C565061||EDS VIIB|EDS7B
C566392||Muscular Dystrophy, Congenital, With Cerebellar Atrophy
C537857||Hereditary vertical nystagmus|Congenital hereditary vertical nystagmus|Nystagmus, hereditary vertical
C536526||Van Bogaert-Hozay syndrome|Acro-osteolysis-facial dysplasia syndrome|Hozay&apos;s syndrome
C565027||Complement Factor D Deficiency|Factor D Deficiency
C566358||Xanthinuria, Type II|Xanthine Dehydrogenase and Aldehyde Oxidase, Combined Deficiency of
C565028||Facial Palsy, Familial Recurrent Peripheral
C566359||Parotitis, Juvenile Recurrent
C536167|245150||Keutel syndrome|Pulmonic stenosis, brachytelephalangism, and calcification of cartilages
C565029||Facial Hypertrichosis
C563463|608836||Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal|Carnitine Palmitoyltransferase II Deficiency, Antenatal|Carnitine Palmitoyltransferase II Deficiency, Neonatal|CPT2 Deficiency, Lethal Neonatal|CPT II Deficiency, Lethal Neonatal
608224|C564272||Deafness, Autosomal Dominant 41|DFNA41
C565023||Factors VIII, IX And XI, Combined Deficiency of|Familial Multiple Coagulation Factor Deficiency V|Multiple Coagulation Factor Deficiency V
C565024||Familial Multiple Coagulation Factor Deficiency II|F8F9D|Factor VIII And Factor IX, Combined Deficiency|FMFD II
C565025||Familial Multiple Coagulation Factor Deficiency IV|Factor VII and Factor VIII, Combined Deficiency|FMFD IV|MCFD4|Multiple Coagulation Factor Deficiency IV
C566356||Osteoma of Cranial Vault, Familial
C565026||Factor V Excess with Spontaneous Thrombosis|Proaccelerin Excess
C566357||Craniosynostosis with Ectopia Lentis
D009459||Neuroleptic Malignant Syndrome|Neuroleptic Induced Neuroleptic Malignant Syndrome|Neuroleptic-Induced Neuroleptic Malignant Syndrome|Neuroleptic Malignant Syndrome, Neuroleptic Induced|Neuroleptic-Malignant Syndrome, Neuroleptic Induced|Neuroleptic Malignant Syndromes|NMS (Neuroleptic Malignant Syndrome)|NMSs (Neuroleptic Malignant Syndrome)|Syndrome, Neuroleptic Malignant|Syndromes, Neuroleptic Malignant
C566473|610455||Tumoral Calcinosis, Normophosphatemic, Familial|Calcinosis, Tumoral, With Normophosphatemia|NFTC
C567211|612650||Ciliary Dyskinesia, Primary, 12|CILD12|CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS
D009464||Neuroma, Acoustic|Acoustic Neurilemmoma|Acoustic Neurilemmomas|Acoustic Neurilemoma|Acoustic Neurilemomas|Acoustic Neurinoma|Acoustic Neurinomas|Acoustic Neuroma|Acoustic Neuroma, Cerebellopontine Angle|Acoustic Neuromas|Acoustic Schwannoma|Acoustic Schwannomas|Acoustic Tumor|Acoustic Tumors|Angle Tumor|Cerebellopontine Angle Acoustic Neuroma|Cerebellopontine Angle Tumor|Melanocytic Vestibular Schwannoma|Melanocytic Vestibular Schwannomas|Neurilemmoma, Acoustic|Neurilemmomas, Acoustic|Neurilemoma, Acoustic|Neurilemomas, Acoustic|Neurinoma, Acoustic|Neurinoma of the Acoustic Nerve|Neurinomas, Acoustic|Neuroma, Acoustic, Unilateral|Neuromas, Acoustic|Schwannoma, Acoustic|Schwannoma, Melanocytic Vestibular|Schwannomas, Acoustic|Schwannomas, Melanocytic Vestibular|Schwannomas, Vestibular|Schwannoma, Vestibular|Tumor, Acoustic|Tumors, Acoustic|Vestibular Schwannoma|Vestibular Schwannoma, Melanocytic|Vestibular Schwannomas|Vestibular Schwannomas, Melanocytic
D009463||Neuroma|Neuromas
D011776||Pyuria|Pyurias
D008133||Long QT Syndrome
219800|D003554||Cystinosis|CTNS|Cystine Diatheses|Cystine Diathesis|Cystine Disease|Cystine Diseases|Cystine Storage Disease|Cystine Storage Diseases|Cystinoses|Cystinoses, Nephropathic|Cystinosin, Defect of|CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED|CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED|Cystinosis, Nephropathic|Diatheses, Cystine|Diathesis, Cystine|Disease, Cystine Storage|Diseases, Cystine Storage|Lysosomal Cystine Transport Protein, Defect Of|Nephropathic Cystinoses|Nephropathic Cystinosis|Storage Disease, Cystine|Storage Diseases, Cystine
C562785|146110||Idiopathic Hypogonadotropic Hypogonadism|HH7|HYPOGONADISM, ISOLATED HYPOGONADOTROPIC|HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA|IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM|IHH
D009461||Neurologic Manifestations|Deficit, Focal Neurologic|Deficit, Neurologic|Deficits, Focal Neurologic|Deficits, Neurologic|Dysfunction, Neurologic|Dysfunctions, Neurologic|Finding, Neurologic|Findings, Neurologic|Focal Neurologic Deficit|Focal Neurologic Deficits|Manifestation, Neurologic|Manifestation, Neurological|Manifestations, Neurologic|Manifestations, Neurological|Neurological Manifestation|Neurological Manifestations|Neurologic Deficit|Neurologic Deficit, Focal|Neurologic Deficits|Neurologic Deficits, Focal|Neurologic Dysfunction|Neurologic Dysfunctions|Neurologic Finding|Neurologic Findings|Neurologic Manifestation|Neurologic Sign|Neurologic Signs|Neurologic Signs and Symptoms|Neurologic Symptom|Neurologic Symptoms|Sign, Neurologic|Signs, Neurologic|Symptom, Neurologic|Symptoms, Neurologic
D011778||Q Fever|Acute Q Fever|Acute Q Fevers|Chronic Q Fever|Chronic Q Fevers|Coxiella burnetii Fever|Coxiella burnetii Fevers|Coxiella burnetii Infection|Coxiella burnetii Infections|Coxiella burnetii Vector Borne Disease|Coxiella burnetii Vector-Borne Disease|Fever, Acute Q|Fever, Chronic Q|Fever, Coxiella burnetii|Fever, Q|Fever, Query|Fevers, Acute Q|Fevers, Chronic Q|Fevers, Coxiella burnetii|Fevers, Q|Fevers, Query|Infection, Coxiella burnetii|Infections, Coxiella burnetii|Q Fever, Acute|Q Fever, Chronic|Q Fevers|Q Fevers, Acute|Q Fevers, Chronic|Query Fever|Query Fevers
C566991|119540||Cleft Palate, Isolated, And Mental Retardation|CLEFT PALATE|CLEFT PALATE, ISOLATED|CP|CPI
D053570||Porcine Postweaning Multisystemic Wasting Syndrome|Postweaning Multisystemic Wasting Syndrome, Porcine
C566361||Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
C566362||Tracheobronchial Stenosis, Congenital
C567769|613076||Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay|Mitochondrial Complex Deficiency, Combined|Myopathy With Cataract And Combined Respiratory Chain Deficiency
C565032||Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly
C566360||Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts
D053578||Opsoclonus-Myoclonus Syndrome|Dancing Eyes Dancing Feet Syndrome|Dancing Eyes-Dancing Feet Syndrome|Dancing Eyes, Dancing Feet Syndrome|Infants Myoclonic Encephalopathies|Infants Myoclonic Encephalopathy|Kinsbourne Syndrome|Myoclonic Encephalopathy of Infants|Myoclonus, Opsoclonus|Opsoclonus Myoclonus|Opsoclonus Myoclonus Ataxia|Opsoclonus Myoclonus Syndrome|Paraneoplastic Opsoclonus Myoclonus Ataxia|Paraneoplastic Opsoclonus-Myoclonus Ataxia
C565039||Erythroleukemia, Familial|Di Guglielmo Disease, Familial|Leukemia, Acute Myelogenous, M6
C565034||Exostoses with Anetodermia and Brachydactyly, Type E
C565035||Cerebrooculofacioskeletal Syndrome 3
C566366||Enlarged Vestibular Aqueduct|Deafness, Autosomal Recessive 4|Dilated Vestibular Aqueduct|Neurosensory Nonsyndromic Recessive Deafness 4
C567696||Bernard-Soulier Syndrome, Autosomal Dominant
C565036||Exchondrosis Of Pinna, Posterior|Ear Bump
C566367||Light Fixation Seizure Syndrome|M Syndrome
C566368||Dyserythropoiesis, Congenital, with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin
D009468||Neuromuscular Diseases|Amyotonia Congenita|Benign Fasciculation-Cramp Syndrome|Benign Fasciculation-Cramp Syndromes|Cramp Fasciculation Syndrome|Cramp-Fasciculation Syndrome|Cramp-Fasciculation Syndromes|Fasciculation Cramp Syndrome, Benign|Fasciculation-Cramp Syndrome, Benign|Fasciculation-Cramp Syndromes, Benign|Foley Denny Brown Syndrome|Foley-Denny-Brown Syndrome|Neuromuscular Disease|Oppenheim Disease|Oppenheim&apos;s Disease|Oppenheims Disease|Syndrome, Cramp-Fasciculation|Syndrome, Foley-Denny-Brown|Syndromes, Cramp-Fasciculation
D008146||Louping Ill|Ill, Louping
D053584||Urinoma|Urinomas
D008141||Lordosis
610733|C548082||Noonan Syndrome 4|NS4
D009471||Neuromyelitis Optica|Devic Disease|Devic Neuromyelitis Optica|Devic&apos;s Disease|Devics Disease|Devic&apos;s Neuromyelitis Optica|Devics Neuromyelitis Optica|Devic&apos;s Neuromyelitis Opticas|Devic&apos;s Syndrome|Devics Syndrome|Devic&apos;s Syndromes|Devic Syndrome|Disease, Devic|Disease, Devic&apos;s|Neuromyelitis Optica, Devic&apos;s|Neuromyelitis Opticas, Devic&apos;s|Optica, Devic&apos;s Neuromyelitis|Opticas, Devic&apos;s Neuromyelitis|Syndrome, Devic|Syndrome, Devic&apos;s|Syndromes, Devic&apos;s
C565041||Erythema Palmare Hereditarium
D052256||Tendinopathy|Tendinitides|Tendinitis|Tendinopathies|Tendinoses|Tendinosis|Tendonitides|Tendonitis
C566092|186200||Syndactyly, Type IV|Haas Type Syndactyly|Polysyndactyly, Haas Type|SD4|SDTY4
C566373||Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
C565043||Arene Oxide Detoxification Defect
C566374||Oroacral Syndrome, Verloes-Koulischer Type
C565044||Diphenylhydantoin, Defect in Hydroxylation of
C566375||Expansile Bone Lesions
C567684|613251||Cardiomyopathy, Familial Hypertrophic, 14|CMH14
D011782||Quadriplegia|Flaccid Quadriplegia|Flaccid Quadriplegias|Flaccid Tetraplegia|Flaccid Tetraplegias|Locked In Syndrome|Locked-In Syndrome|Locked-In Syndromes|Paralysis, Spinal, Quadriplegic|Quadripareses|Quadriparesis|Quadriplegia, Flaccid|Quadriplegias|Quadriplegias, Flaccid|Quadriplegia, Spastic|Quadriplegias, Spastic|Spastic Quadriplegia|Spastic Quadriplegias|Spastic Tetraplegia|Spastic Tetraplegias|Syndrome, Locked-In|Syndromes, Locked-In|Tetraplegia|Tetraplegia, Flaccid|Tetraplegias|Tetraplegias, Flaccid|Tetraplegia, Spastic|Tetraplegias, Spastic
C566370||Muscular Dystrophy, Limb-Girdle, Type 1D|LGMD1D
D053589||Nuchal Cord|Cord, Double Nuchal|Cord Entanglements, Fetal|Cord, Nuchal|Double Nuchal Cord|Fetal Cord Entanglement|Fetal Cord Entanglements|Nuchal Cord, Double|Nuchal Cord, Quadruple|Nuchal Cord, Single|Nuchal Cord, Triple|Quadruple Nuchal Cord|Single Nuchal Cord|Triple Nuchal Cord
C565005||Foveal Hypoplasia, Isolated
C565006||Foveal Hypoplasia with Anterior Segment Anomalies
C565007||Fourth Cranial Nerve Palsy, Familial Congenital|Strabismus from Superior Oblique Palsy|Superior Oblique Oculomotor Palsy, Familial Congenital|Trochlear Nerve Palsy, Familial Congenital
D064250||Hypertriglyceridemic Waist|Enlarged Waist Elevated Triglycerides|Waist, Hypertriglyceridemic
C565008||Focal Epithelial Hyperplasia of the Oral Mucosa
C565001||Fragile Site 16p12
C566332||Microcephaly with Simplified Gyral Pattern
C537831|600208||Macrothrombocytopenia progressive deafness|Brodie Chole Griffin syndrome|Macrothrombocytopenia and Progressive Sensorineural Deafness
C567664||Omodysplasia 2|OMOD2|Omodysplasia, Autosomal Dominant
603860|C548033||Medullary Cystic Kidney Disease 2|ADMCKD2|MCKD2|Medullary Cystic Kidney Disease 2, Autosomal Dominant
C566334||Long Qt Syndrome 3/6
C567666||Fibrosis of Extraocular Muscles, Congenital, 3C|CFEOM3C
D008109||Liver Diseases, Parasitic|Disease, Parasitic Liver|Diseases, Parasitic Liver|Liver Disease, Parasitic|Parasitic Liver Disease|Parasitic Liver Diseases
C563738|609322||Rhabdoid Tumor Predisposition Syndrome 1|AT/RT, INCLUDED|Brain Tumor, Posterior Fossa, of Infancy, Familial|BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED|Malignant Rhabdoid Tumor, Somatic|RDT, INCLUDED|RHABDOID TUMOR, INCLUDED|RTPS1|TERATOID TUMOR, ATYPICAL, INCLUDED
D008107||Liver Diseases|Disease, Liver|Diseases, Liver|Dysfunction, Liver|Dysfunctions, Liver|Liver Disease|Liver Dysfunction|Liver Dysfunctions
D008108||Liver Diseases, Alcoholic|Alcoholic Liver Disease|Alcoholic Liver Diseases|Liver Disease, Alcoholic
C565009||Flood Factor Deficiency
D009437||Neuralgia|Atypical Neuralgia|Atypical Neuralgias|Iliohypogastric Nerve Neuralgia|Iliohypogastric Nerve Neuralgias|Ilioinguinal Neuralgia|Ilioinguinal Neuralgias|Nerve Neuralgia, Iliohypogastric|Nerve Neuralgias, Iliohypogastric|Nerve Pain|Nerve Pain, Paroxysmal|Nerve Pains|Nerve Pains, Paroxysmal|Neuralgia, Atypical|Neuralgia, Iliohypogastric Nerve|Neuralgia, Ilioinguinal|Neuralgia, Perineal|Neuralgias|Neuralgias, Atypical|Neuralgias, Iliohypogastric Nerve|Neuralgias, Ilioinguinal|Neuralgias, Perineal|Neuralgias, Stump|Neuralgias, Supraorbital|Neuralgia, Stump|Neuralgia, Supraorbital|Neuralgias, Vidian|Neuralgia, Vidian|Neurodynia|Neurodynias|Neuropathic Pain|Neuropathic Pains|Pain, Nerve|Pain, Neuropathic|Pain, Paroxysmal Nerve|Pains, Nerve|Pains, Neuropathic|Pains, Paroxysmal Nerve|Paroxysmal Nerve Pain|Paroxysmal Nerve Pains|Perineal Neuralgia|Perineal Neuralgias|Stump Neuralgia|Stump Neuralgias|Supraorbital Neuralgia|Supraorbital Neuralgias|Vidian Neuralgia|Vidian Neuralgias
D008106||Liver Cirrhosis, Experimental|Cirrhoses, Experimental Liver|Cirrhosis, Experimental Liver|Experimental Hepatic Cirrhosis|Experimental Liver Cirrhoses|Experimental Liver Cirrhosis|Hepatic Cirrhosis, Experimental|Liver Cirrhoses, Experimental
D008103||Liver Cirrhosis|Cirrhoses, Hepatic|Cirrhoses, Liver|Cirrhosis, Hepatic|Cirrhosis, Liver|Fibroses, Liver|Fibrosis, Liver|Hepatic Cirrhoses|Hepatic Cirrhosis|Liver Cirrhoses|Liver Fibroses|Liver Fibrosis
106210|C536372||Aniridia, type 2|AN|ANIRIDIA|ANIRIDIA II, FORMERLY;AN2, FORMERLY CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY, INCLUDED
D008104||Liver Cirrhosis, Alcoholic|Alcoholic Cirrhosis|Alcoholic Hepatic Cirrhosis|Alcoholic Liver Cirrhosis|Hepatic Cirrhosis, Alcoholic
300448|C563023||Alpha-Thalassemia Myelodysplasia Syndrome|ATMDS|Hemoglobin H Disease, Acquired
C537808||Chromosome 6, monosomy 6q1|Deletion 6q1|Monosomy 6q1
D009444||Neuritis, Autoimmune, Experimental|Allergic Neuritis, Experimental|Autoimmune Neuritis, Experimental|Autoimmune Neuropathies, Experimental|Autoimmune Neuropathy, Experimental|EAN (Experimental Allergic Neuritis)|EAN (Experimental Autoimmune Neuritis)|Experimental Allergic Neuritis|Experimental Autoimmune Neuritis|Experimental Autoimmune Neuropathies|Experimental Autoimmune Neuropathy|Neuritis, Experimental Allergic|Neuritis, Experimental Autoimmune|Neuropathies, Experimental Autoimmune|Neuropathy, Experimental Autoimmune
D053591||Pain, Referred|Facial Pain, Referred|Referred Facial Pain|Referred Pain
C537809||Chromosome 6, monosomy 6q2|Deletion 6q2|Monosomy 6q2
D009443||Neuritis|Motor Neuritides|Motor Neuritis|Neuritides|Neuritides, Motor|Neuritides, Peripheral|Neuritides, Sensory|Neuritis, Motor|Neuritis, Peripheral|Neuritis, Sensory|Peripheral Neuritides|Peripheral Neuritis|Polyneuritides|Polyneuritis|Sensory Neuritides|Sensory Neuritis
D008113||Liver Neoplasms|Cancer, Hepatic|Cancer, Hepatocellular|Cancer, Liver|Cancer of Liver|Cancer of the Liver|Cancers, Hepatic|Cancers, Hepatocellular|Cancers, Liver|Hepatic Cancer|Hepatic Cancers|Hepatic Neoplasm|Hepatic Neoplasms|Hepatocellular Cancer|Hepatocellular Cancers|Liver Cancer|Liver Cancers|Liver Neoplasm|Neoplasm, Hepatic|Neoplasm, Liver|Neoplasms, Hepatic|Neoplasms, Liver
D009442||Neurilemmoma|Malignant Neurilemmoma|Malignant Neurilemmomas|Malignant Neurilemoma|Malignant Neurilemomas|Malignant Peripheral Nerve Sheath Tumors|Malignant Schwannoma|Malignant Schwannomas|MPNST|MPNSTs|Neurilemmoma, Malignant|Neurilemmomas|Neurilemmomas, Malignant|Neurilemmosarcoma|Neurilemmosarcomas|Neurilemoma|Neurilemoma, Malignant|Neurilemomas|Neurilemomas, Malignant|Neurinoma|Neurinomas|Peripheral Nerve Sheath Tumors, Malignant|Plexiform Schwannomatoses|Plexiform Schwannomatosis|Schwannoma|Schwannoma, Malignant|Schwannomas|Schwannomas, Malignant|Schwannomatoses, Plexiform|Schwannomatosis, Plexiform
C537807||Chromosome 6, monosomy 6q|Deletion 6q|Monosomy 6q
D009440||Neurasthenia|Neurasthenic Neuroses|Neuroses, Neurasthenic
248310||PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL|PFBI|PLASMODIUM FALCIPARUM PARASITEMIA
142946|C564180||Holoprosencephaly 4|HPE4
262890|C563120||Scott Syndrome|BDPLT7|Bleeding Abnormality due to Deficiency of Platelet Binding of Factor X|BLEEDING DISORDER, PLATELET-TYPE, 7|Prothrombin Consumption Deficiency|Prothrombin Consumption Inhibitor, Familial|Prothrombin Conversion Defect, Familial|SCTS
C566340||Bile Acid Synthesis Defect, Congenital, 3|Congenital Bile Acid Synthesis Defect Type 3 (CBAS3)
C565010||Fingerprints, Absence of
C565011||Fibula, Recurrent Dislocation of Head of
C537804||Chromosome 10q duplication syndrome|10q duplication syndrome|10q Partial trisomy|Partial trisomy 10q|Trisomy 10q
C537803||Ghose Sachdev Kumar syndrome
C566347||Eccrine Syringofibroadenomatosis with Eyelid Abnormalities
C565017||Fibrinolytic Defect
C565018||Dysfibrinogenemia Causing Recurrent Thrombosis
C566345||Acromelic Frontonasal Dysostosis
C566346||Blue Nevi, Familial Multiple
262000|C537633||Bjornstad syndrome|BJS|Deafness and pili torti, Bjornstad type|Pili torti and nerve deafness|Pili torti-sensorineural hearing loss|PTD
D008118||Loiasis|Loaiases|Loaiasis|Loiases
D009449||Neurocirculatory Asthenia|Asthenia, Neurocirculatory|Asthenias, Neurocirculatory|Cardiac Neuroses|Cardiac Neurosis|Effort Syndrome|Heart Syndrome, Hyperkinetic|Hyperkinetic Heart Syndrome|Neurocirculatory Asthenias|Neuroses, Cardiac|Neurosis, Cardiac|Syndrome, Effort|Syndrome, Hyperkinetic Heart
269700|D052497||Lipodystrophy, Congenital Generalized|AGPAT2-Related Brunzell Syndrome|Berardinelli Seip Congenital Lipodystrophy|Berardinelli-Seip Congenital Lipodystrophy|Berardinelli Seip Congenital Lipodystrophy Type 1|Berardinelli Seip Congenital Lipodystrophy, Type 1|Berardinelli-Seip Congenital Lipodystrophy Type 1|Berardinelli-Seip Congenital Lipodystrophy, Type 1|Berardinelli Seip Congenital Lipodystrophy Type 2|Berardinelli Seip Congenital Lipodystrophy, Type 2|Berardinelli-Seip Congenital Lipodystrophy Type 2|Berardinelli-Seip Congenital Lipodystrophy, Type 2|Berardinelli Seip Syndrome|Berardinelli-Seip Syndrome|Berardinelli Syndrome|Brunzell Syndrome|Brunzell Syndrome, AGPAT2 Related|Brunzell Syndrome, AGPAT2-Related|Brunzell Syndrome, BSCL2 Related|Brunzell Syndrome, BSCL2-Related|Brunzell Syndrome (with Bone Cysts)|BSCL1|BSCL2-Related Brunzell Syndrome|CGL1|CGL2|Congenital Generalized Lipodystrophies|Congenital Generalized Lipodystrophy|Congenital Generalized Lipodystrophy Type 1|Congenital Generalized Lipodystrophy Type 2|Congenital Lipoatrophic Diabete|Congenital Lipoatrophic Diabetes|Congenital Lipodystrophy, Berardinelli-Seip|Diabete, Congenital Lipoatrophic|Diabetes, Congenital Lipoatrophic|Generalized Lipodystrophies|Generalized Lipodystrophies, Congenital|Generalized Lipodystrophy|Generalized Lipodystrophy, Congenital|Lipoatrophic Diabete, Congenital|Lipoatrophic Diabetes, Congenital|Lipodystrophies, Congenital Generalized|Lipodystrophies, Generalized|Lipodystrophies, Total|Lipodystrophy, Berardinelli-Seip Congenital|Lipodystrophy, Berardinelli-Seip Congenital, Type 1|Lipodystrophy, Berardinelli-Seip Congenital, Type 2|Lipodystrophy, Congenital Generalized, Type 1|Lipodystrophy, Congenital Generalized, Type 2|Lipodystrophy, Generalized|Lipodystrophy, Total|Lipodystrophy, Total, And Acromegaloid Gigantism|Seip Syndrome|Syndrome, AGPAT2-Related Brunzell|Syndrome, Berardinelli|Syndrome, Berardinelli-Seip|Syndrome, Brunzell|Syndrome, Brunzell (with Bone Cysts)|Syndrome, BSCL2-Related Brunzell|Syndrome, Seip|Total Lipodystrophies|Total Lipodystrophy|Total Lipodystrophy and Acromegaloid Gigantism
D008114||Liver Neoplasms, Experimental|Experimental Hepatoma|Experimental Hepatomas|Experimental Liver Neoplasm|Experimental Liver Neoplasms|Hepatoma, Experimental|Hepatoma, Morris|Hepatoma, Novikoff|Hepatomas, Experimental|Liver Neoplasm, Experimental|Morris Hepatoma|Neoplasms, Experimental Liver|Novikoff Hepatoma
C537819||Chromosome 7, trisomy 7p|Duplication 7p|Trisomy 7p
D009455||Neurofibroma|Neurofibromas
608035||MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4|CMM4
C537817||Chromosome 7, monosomy 7q3|Deletion 7q3|Monosomy 7q3
C537818||7p2 monosomy syndrome|Chromosome 7, monosomy 7p2|Chromosome 7, partial deletion of short arm (7p2-)|Chromosome 7, partial monosomy 7p|Chromosome 7, terminal 7p deletion (del 7p21-p22)
D010437||Peptic Ulcer|Gastroduodenal Ulcer|Gastroduodenal Ulcers|Marginal Ulcer|Marginal Ulcers|Peptic Ulcers|Ulcer, Gastroduodenal|Ulcer, Marginal|Ulcer, Peptic|Ulcers, Gastroduodenal|Ulcers, Marginal|Ulcers, Peptic
D009450||Neurodermatitis|Circumscribed Neurodermatitides|Circumscribed Neurodermatitis|Lichen Simplex Chronicus|Localized Neurodermatitides|Localized Neurodermatitis|Neurodermatitides|Neurodermatitides, Circumscribed|Neurodermatitides, Localized|Neurodermatitis, Circumscribed|Neurodermatitis, Localized
251110|C537361||Methylmalonic aciduria cblB type|Methylmalonic acidemia cblB type|Methylmalonic Acidemia, cblB Type|Methylmalonic Aciduria, cblB Type|METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
D010439||Peptic Ulcer Perforation|Peptic Ulcer Perforations|Perforation, Peptic Ulcer|Perforations, Peptic Ulcer|Ulcer Perforation, Peptic|Ulcer Perforations, Peptic
608033||ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3|ANE|ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO|IIAE3
D010438||Peptic Ulcer Hemorrhage|Hemorrhage, Peptic Ulcer|Peptic Ulcer Hemorrhages|Ulcer Hemorrhage, Peptic
C537811||Chromosome 6, trisomy 6p|Duplication 6p|Trisomy 6p
C567682||Tsc2 Angiomyolipomas, Renal, Modifier Of
C562771|274900||Thyroid Dyshormonogenesis 5|Hypothyroidism, Congenital, due to Dyshormonogenesis, 5|TDH5|Thyroid Hormonogenesis, Genetic Defect in, 5
C565020||Iron Overload, Autosomal Dominant
C566351||Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
C537812||Chromosome 6, trisomy 6q|Duplication 6q|Trisomy 6q
C566352||Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
C565022||Familial Multiple Coagulation Factor Deficiency VI|Factor IX and Factor XI, Combined Deficiency|FMFD VI|MCFD6|Multiple Coagulation Factor Deficiency VI
C537810||6q+ Syndrome, Partial|Chromosome 6, partial trisomy 6q|Chromosome 6, Trisomy 6q2|Distal Duplication 6q|Trisomy 6q, Partial|Trisomy 6q Syndrome, Partial
253200|D009087||Mucopolysaccharidosis VI|ARSB Deficiencies|ARSB Deficiency|Arylsulfatase B Deficiencies|Arylsulfatase B Deficiency|Deficiencies, ARSB|Deficiencies, Arylsulfatase B|Deficiencies, N-Acetylgalactosamine-4-Sulfatase|Deficiency, ARSB|Deficiency, Arylsulfatase B|Deficiency, N-Acetylgalactosamine-4-Sulfatase|Dwarfism, Polydystrophic|Maroteaux Lamy Syndrome|Maroteaux-Lamy Syndrome|MPS6|MPS VI|Mucopolysaccharidosis 6|Mucopolysaccharidosis Type 6|Mucopolysaccharidosis Type VI|N-Acetylgalactosamine-4-Sulfatase Deficiencies|N-Acetylgalactosamine-4-Sulfatase Deficiency|Polydystrophic Dwarfism|Syndrome, Maroteaux-Lamy|Type 6, Mucopolysaccharidosis|Type VI, Mucopolysaccharidosis
C537815||Chromosome 7, monosomy 7q2|Deletion 7q2|Monosomy 7q2
C537816||Chromosome 7, monosomy 7q21|Deletion 7q21|Monosomy 7q21
C567125|611721||Combined Saposin Deficiency|COMBINED SAP DEFICIENCY|Prosaposin Deficiency|PSAPD
C537813||Chromosome 7 ring syndrome|Ring chromosome 7|Ring chromosome 7 syndrome
C537814||Chromosome 7, monosomy|Monosomy 7
C567461|300770||Surfactant Metabolism Dysfunction, Pulmonary, 4|CSF2RA Deficiency|PAP due to CSF2RA Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 4|SMDP4
D004831|607208||Epilepsies, Myoclonic|Absence Epilepsies, Myoclonic|Absence Epilepsy, Myoclonic|Astatic Epilepsies, Myoclonic|Astatic Epilepsy, Myoclonic|Benign Infantile Myoclonic Epilepsy|Cryptogenic Myoclonic Epilepsies|Cryptogenic Myoclonic Epilepsy|Disorder, Myoclonic Seizure|Disorders, Myoclonic Seizure|Dravet Syndrome|Dravet Syndromes|Early Childhood Epilepsy, Myoclonic|Early Childhood, Myoclonic Epilepsy|EIEE6|Encephalopathies, Myoclonic|Encephalopathy, Myoclonic|Epilepsies, Cryptogenic Myoclonic|Epilepsies, Idiopathic Myoclonic|Epilepsies, Infantile Myoclonic|Epilepsies, Myoclonic Absence|Epilepsies, Myoclonic Astatic|Epilepsies, Symptomatic Myoclonic|Epilepsy, Cryptogenic Myoclonic|Epilepsy, Early Childhood, Myoclonic|Epilepsy, Idiopathic Myoclonic|Epilepsy, Infantile Myoclonic|Epilepsy, Myoclonic|Epilepsy, Myoclonic Absence|Epilepsy, Myoclonic Astatic|Epilepsy, Myoclonic, Early Childhood|Epilepsy, Myoclonic, Infantile|Epilepsy, Myoclonic, Infantile, Benign|Epilepsy, Myoclonic, Infantile, Severe|Epilepsy, Myoclonus|Epilepsy, Symptomatic Myoclonic|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6|Idiopathic Myoclonic Epilepsies|Idiopathic Myoclonic Epilepsy|Infantile Myoclonic Epilepsies|Infantile Myoclonic Epilepsy|Infantile Severe Myoclonic Epilepsy|Myoclonic Absence Epilepsies|Myoclonic Absence Epilepsy|Myoclonic Astatic Epilepsies|Myoclonic Astatic Epilepsy|Myoclonic Encephalopathies|Myoclonic Encephalopathy|Myoclonic Epilepsies|Myoclonic Epilepsies, Cryptogenic|Myoclonic Epilepsies, Idiopathic|Myoclonic Epilepsies, Infantile|Myoclonic Epilepsies, Symptomatic|Myoclonic Epilepsy|Myoclonic Epilepsy, Benign Infantile|Myoclonic Epilepsy, Cryptogenic|Myoclonic Epilepsy, Early Childhood|Myoclonic Epilepsy, Idiopathic|Myoclonic Epilepsy, Infantile|Myoclonic Epilepsy, Infantile, Benign|Myoclonic Epilepsy, Infantile, Severe|Myoclonic Epilepsy, Severe Infantile|Myoclonic Epilepsy, Severe, Of Infancy|Myoclonic Epilepsy, Symptomatic|Myoclonic Seizure Disorder|Myoclonic Seizure Disorders|Myoclonus Epilepsies|Myoclonus Epilepsy|Seizure Disorder, Myoclonic|Seizure Disorders, Myoclonic|Severe Infantile Myoclonic Epilepsy|Severe Myoclonic Epilepsy, Infantile|Severe Myoclonic Epilepsy Of Infancy|SMEI|Symptomatic Myoclonic Epilepsies|Symptomatic Myoclonic Epilepsy|Syndrome, Dravet|Syndromes, Dravet
C566677||Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
C564014||Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
C566678||Elliptocytosis 3
C566679||Spastic Paraplegia, Optic Atrophy, And Dementia
C564012||Wolfram Syndrome, Mitochondrial Form|Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness, Mitochondrial Form|DIDMOAD Syndrome, Mitochondrial Form
C565349||Mesomelic Dysplasia, Savarirayan Type|Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias
C564011||Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease
C566673||Spinal Muscular Atrophy, Late-Onset, Finkel Type|Finkel Late-Adult Type SMA
C564018||Myoglobinuria, Recurrent
C566674||Spinal Muscular Atrophy, Facioscapulohumeral Type|FSHSMA
C537832|153840||Macular dystrophy, atypical vitelliform|Vitelliform macular dystrophy, atypical|VMD1
C564017||Myopathy, Mitochondrial, Lethal Infantile
C566675||Neuronopathy, Distal Hereditary Motor, Type I|Charcot-Marie-Tooth Disease, Spinal, I|Neuropathy, Distal Hereditary Motor, Type I|Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I
C564016||Nephropathy, Chronic Tubulointerstitial
C564015||Parkinson Disease, Mitochondrial
C579990||Childhood Myocerebrohepatopathy Spectrum
C579991||Chmp2b-Related Frontotemporal Dementia|Chromosome 3-Linked Frontotemporal Dementia|Dtm1|Ftd3|Ftd-3|Ftd-Chmp2b
142340|C538080||Congenital diaphragmatic hernia|Agenesis of hemidiaphragm|CDH|Congenital diaphragmatic defect|Diaphragmatic Defect, Congenital|Diaphragmatic Hernia, Congenital|DIAPHRAGM, COMPLETE AGENESIS OF, INCLUDED|Diaphragm, Unilateral Agenesis Of|DIH|DIH1, INCLUDED|HCD|Hemidiaphragm, Agenesis Of|HEMIDIAPHRAGM, AGENESIS OF DIAPHRAGMATIC HERNIA 1, INCLUDED|Hernia, Congenital Diaphragmatic|Unilateral agenesis of diaphragm
D008206||Lymphatic Diseases|Disease, Lymphatic|Diseases, Lymphatic|Lymphadenopathy|Lymphatic Disease|Lymphatism|Status Lymphaticus
C536295|608629||Joubert syndrome 3|JBTS3
C564019||Diarrhea, Chronic, with Villous Atrophy
D008207||Lymphatic Metastasis|Lymphatic Metastases|Metastases, Lymphatic|Metastasis, Lymphatic
D008204||Lymphangiosarcoma|Lymphangioendothelioma, Malignant|Lymphangioendotheliomas, Malignant|Lymphangiosarcomas|Malignant Lymphangioendothelioma|Malignant Lymphangioendotheliomas
D008205||Lymphangitis|Lymphangitides
C537500|271930||Striatonigral degeneration infantile|Bilateral Striatal Necrosis, Infantile|IBSN|Infantile bilateral striatal necrosis|SNDI|Striatal degeneration familial|Striatal Degeneration, Familial|Striatonigral Degeneration, Infantile
D008202||Lymphangioma|Cavernous Lymphangioma|Cavernous Lymphangiomas|Endothelioma, Lymphatic|Endotheliomas, Lymphatic|Lymphangioendothelioma|Lymphangioendotheliomas|Lymphangioma, Cavernous|Lymphangiomas|Lymphangiomas, Cavernous|Lymphatic Endothelioma|Lymphatic Endotheliomas
D008203||Lymphangiomyoma|Lymphangioleiomyoma|Lymphangioleiomyomas|Lymphangiomyomas
D009542||Niemann-Pick Diseases|Niemann Pick Disease|Niemann-Pick Disease|Niemann Pick Diseases
D010523||Peripheral Nervous System Diseases|Nerve Disease, Peripheral|Nerve Diseases, Peripheral|Neuropathy, Peripheral|Peripheral Nerve Disease|Peripheral Nerve Diseases|Peripheral Nervous System Disease|Peripheral Nervous System Disorders|Peripheral Neuropathies|Peripheral Neuropathy|PNS Disease|PNS Diseases|PNS (Peripheral Nervous System) Diseases
D010522||Periostitis|Periostitides
D008210||Lymphocele|Cyst, Lymphatic|Cysts, Lymphatic|Lymphatic Cyst|Lymphatic Cysts|Lymphoceles|Lymphocoele|Lymphocoeles
D011855||Radiodermatitis|Dermatitides, Radiation-Induced|Dermatitides, Radiation Recall|Dermatitis, Radiation Induced|Dermatitis, Radiation-Induced|Dermatitis, Radiation Recall|Radiation-Induced Dermatitides|Radiation Induced Dermatitis|Radiation-Induced Dermatitis|Radiation Recall Dermatitides|Radiation Recall Dermatitis|Radiation Recall Reaction|Radiation Recall Reactions|Radiodermatitides|Reaction, Radiation Recall|Reactions, Radiation Recall|Recall Reaction, Radiation|Recall Reactions, Radiation
D010524||Peripheral Nervous System Neoplasms|Neoplasm, Peripheral Nerve|Neoplasms, Peripheral Nerve|Nerve Neoplasm, Peripheral|Nerve Neoplasms, Peripheral|Nerve Tumor, Peripheral|Nerve Tumors, Peripheral|Peripheral Nerve Neoplasm|Peripheral Nerve Neoplasms|Peripheral Nerve Neoplasms, Benign|Peripheral Nerve Neoplasms, Malignant|Peripheral Nerve Neoplastic Infiltration|Peripheral Nerve Tumor|Peripheral Nerve Tumors|Peripheral Nervous System Benign Neoplasms|Peripheral Nervous System Malignant Neoplasms|Tumor, Peripheral Nerve|Tumors, Peripheral Nerve
C564694|606593||LIG4 Syndrome
C566681||Spastic Paraplegia With Associated Extrapyramidal Signs
C566682||Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
C564021||Leigh Syndrome Due To Mitochondrial Complex I Deficiency|Atpase Deficiency, Nuclear-Encoded
C564020||Ataxia and Polyneuropathy, Adult-Onset
231680|D054069||Multiple Acyl Coenzyme A Dehydrogenase Deficiency|Aciduria, Ethylmalonic-Adipic|Acidurias, Ethylmalonic-Adipic|Electron Transfer Flavoprotein Alpha Subunit Deficiency|Electron Transfer Flavoprotein Beta Subunit Deficiency|Electron Transfer Flavoprotein Deficiency|Electron Transfer Flavoprotein Dehydrogenase Deficiency|ETFA Deficiencies|ETFA Deficiency|ETFA DEFICIENCY, INCLUDED|ETFB Deficiencies|ETFB Deficiency|ETFB DEFICIENCY, INCLUDED|ETFDH Deficiencies|ETFDH Deficiency|ETFDH DEFICIENCY, INCLUDED|Ethylmalonic Adipicaciduria|Ethylmalonic-Adipicaciduria|Ethylmalonic Adipic Aciduria|Ethylmalonic-Adipic Aciduria|ETHYLMALONIC-ADIPICACIDURIA;EMA GLUTARIC ACIDEMIA IIA, INCLUDED|Ethylmalonic-Adipic Acidurias|GA II|GLUTARIC ACIDEMIA II|GLUTARIC ACIDEMIA IIB, INCLUDED|GLUTARIC ACIDEMIA IIC, INCLUDED|Glutaric Acidemia, Type 2|Glutaric Acidemia Type II|Glutaric Aciduria II|Glutaric Aciduria IIA|Glutaric Aciduria IIB|Glutaric Aciduria IIC|Glutaric Aciduria Type 2|Glutaric Aciduria, Type 2|Glutaric Aciduria Type II|MADD|MADD (Multiple Acyl CoA Dehydrogenase Deficiency)|MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)|MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency)|Multiple Acyl CoA Dehydrogenase Deficiency|Multiple Acyl-CoA Dehydrogenase Deficiency|Multiple FAD Dehydrogenase Deficiency
C564025||Striatonigral Degeneration, Infantile, Mitochondrial|Bilateral Striatal Necrosis, Infantile, Mitochondrial|Infantile Bilateral Striatal Necrosis, Mitochondrial
C565358||Growth Deficiency and Mental Retardation with Facial Dysmorphism
C564024||Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
C539067||Amoebic dysentery due to Entamoeba histolytica
154700|D008382||Marfan Syndrome|Marfan&apos;s Syndrome|Marfans Syndrome|Marfan Syndrome, Type I|MFS|MFS1|Syndrome, Marfan|Syndrome, Marfan&apos;s
C564023||Cyclic Vomiting Syndrome-Plus|CVS-Plus
C564022||Cyclic Vomiting Syndrome with Neuromuscular Disease
131300|D003966||Camurati-Engelmann Syndrome|CAEND|Camurati Engelmann Disease|Camurati-Engelmann Disease|Camurati Engelmann Syndrome|CED|DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE|Diaphyseal Dysplasia, Progressive|Diaphyseal Dysplasias, Progressive|Diaphyseal Hyperostosis|DPD1|Dysplasia, Progressive Diaphyseal|Dysplasias, Progressive Diaphyseal|Engelmann Disease|Engelmann&apos;s Disease|PDD|Progressive Diaphyseal Dysplasia
D064386||Ankle Fractures|Ankle Fracture|Ankle Fracture, Bimalleolar|Ankle Fractures, Bimalleolar|Ankle Fractures, Trimalleolar|Ankle Fracture, Trimalleolar|Bimalleolar Ankle Fracture|Bimalleolar Ankle Fractures|Bimalleolar Equivalent Ankle Fractures|Bimalleolar Equivalent Fracture|Bimalleolar Equivalent Fractures|Bimalleolar Fracture|Bimalleolar Fractures|Equivalent Fracture, Bimalleolar|Equivalent Fractures, Bimalleolar|Fracture, Ankle|Fracture, Bimalleolar|Fracture, Bimalleolar Ankle|Fracture, Bimalleolar Equivalent|Fracture, Lateral Malleolus|Fracture, Medial Malleolus|Fracture, Posterior Malleolus|Fractures, Ankle|Fractures, Bimalleolar|Fractures, Bimalleolar Ankle|Fractures, Bimalleolar Equivalent|Fractures, Lateral Malleolus|Fractures, Medial Malleolus|Fractures, Posterior Malleolus|Fractures, Trimalleolar|Fractures, Trimalleolar Ankle|Fracture, Trimalleolar|Fracture, Trimalleolar Ankle|Lateral Malleolus Fracture|Lateral Malleolus Fractures|Malleolus Fracture, Lateral|Malleolus Fracture, Medial|Malleolus Fracture, Posterior|Malleolus Fractures, Lateral|Malleolus Fractures, Medial|Malleolus Fractures, Posterior|Medial Malleolus Fracture|Medial Malleolus Fractures|Posterior Malleolus Fracture|Posterior Malleolus Fractures|Trimalleolar Ankle Fracture|Trimalleolar Ankle Fractures|Trimalleolar Fracture|Trimalleolar Fractures
C566687||Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
C564026||Mitochondrial Myopathy with Diabetes|Mitochondrial Myopathy, Lipid Type
D008219||Lymphogranuloma Venereum|Lymphogranuloma Inguinale
D008218||Lymphocytosis|Lymphocytoses
D008216||Lymphocytic Choriomeningitis|Armstrong&apos;s Syndrome|Armstrong Syndrome|Choriomeningitis, Lymphocytic|Encephalomyelitis, Lymphocytic Choriomeningitis Virus|Lymphocytic Choriomeningitis Virus Encephalomyelitis|Syndrome, Armstrong|Syndrome, Armstrong&apos;s
D010532||Peritoneal Diseases|Peritoneal Disease
D008223||Lymphoma|Germinoblastic Sarcoma|Germinoblastic Sarcomas|Germinoblastoma|Germinoblastomas|Lymphoma, Malignant|Lymphomas|Lymphomas, Malignant|Malignant Lymphoma|Malignant Lymphomas|Reticulolymphosarcoma|Reticulolymphosarcomas|Sarcoma, Germinoblastic|Sarcomas, Germinoblastic
D010534||Peritoneal Neoplasms|Neoplasm, Peritoneal|Neoplasms, Peritoneal|Peritoneal Neoplasm
D010538||Peritonitis|Peritonitis, Primary|Peritonitis, Secondary|Primary Peritonitis|Secondary Peritonitis
C566692||Sclerocornea, Autosomal Dominant
C565361||Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy
C564032||Sertoli Cell-Only Syndrome, Type II
C566996|600919||Cardiac Arrhythmia, Ankyrin-B-Related|Ankyrin-B Syndrome|ANKYRIN-B SYNDROME LONG QT SYNDROME 4, INCLUDED|LQT4, INCLUDED
115430|D002349||Carpal Tunnel Syndrome|Amyotrophy, Thenar, Of Carpal Origin|Carpal Tunnel Syndromes|Compression Neuropathy, Carpal Tunnel|CTS|CTS1|Entrapment Neuropathy, Carpal Tunnel|Median Neuropathy, Carpal Tunnel|Syndrome, Carpal Tunnel|Syndromes, Carpal Tunnel
C566690||Sinus Node Disease and Myopia|Sick Sinus Syndrome and Myopia|SSS-Myopia Syndrome
C566655||Steinfeld Syndrome
C566658||Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
C565327||Leber Congenital Amaurosis 6
C566651||Iris Pigment Epithelium Anomalies|Cysts of Iris Pigment Epithelium|Ruffles and Cysts of Iris Pigment Epithelium
C566652||Spastic Paraplegia And Evans Syndrome
C566654||Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient
D010509||Periodontal Cyst|Cyst, Dental Root|Cyst, Dentoalveolar|Cyst, Lateral|Cyst, Periodontal|Cysts, Dental Root|Cysts, Dentoalveolar|Cysts, Lateral|Cysts, Periodontal|Dental Root Cyst|Dental Root Cysts|Dentoalveolar Cyst|Dentoalveolar Cysts|Lateral Cyst|Lateral Cysts|Periodontal Cysts|Root Cyst, Dental|Root Cysts, Dental
D010508||Periodontal Abscess|Abscesses, Periodontal|Abscess, Periodontal|Periodontal Abscesses
C566659||Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
C567231|612627||Convulsions, Benign Familial Infantile, 4|BFIC4|BFIS4|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 4|Seizures, Benign Familial Infantile, 4
C563666|610768||Congenital Disorder Of Glycosylation, Type Im|CDG1m|CDGIm|CDG Im|DK1 DEFICIENCY|Dolichol Kinase Deficiency
C537179|311510||Parkinsonism, early onset with mental retardation|Basal ganglia disorder with mental retardation|Basal Ganglion Disorder With Mental Retardation|BGMR|Laxova Brown Hogan syndrome|Parkinsonism, Early-Onset, With Mental Retardation|Waisman syndrome|WSN|X-linked recessive basal ganglia disorder with mental retardation
D009521||Newcastle Disease|Disease, Newcastle
D011832||Radiation Injuries|Injuries, Radiation|Injury, Radiation|Radiation Injury|Radiation Sickness|Radiation Sicknesses|Radiation Syndrome|Radiation Syndromes|Sicknesses, Radiation|Sickness, Radiation|Syndrome, Radiation|Syndromes, Radiation
D010501||Perinephritis|Inflammation, Perinephrium|Inflammations, Perinephrium|Perinephritides|Perinephrium Inflammation
C566459|609647||Deafness, Autosomal Recessive 46|DFNB46
D011833||Radiation Injuries, Experimental|Experimental Radiation Injuries|Experimental Radiation Injury|Injuries, Experimental Radiation|Radiation Injury, Experimental
C567326|612381||Inflammatory Bowel Disease 23|IBD23
248360|C535702||Malonic aciduria|Malonicaciduria|Malonyl-CoA decarboxylase deficiency|Malonyl-Coenzyme A Decarboxylase Deficiency
C566660||Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
C579969||Cap Myopathy|Cap Disease|Congenital Myopathy with Caps
C566666||Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells
C564003||Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies
C566668||Spinocerebellar Atrophy With Pupillary Paralysis
C566669||Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
C564000||Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium|Retinitis Pigmentosa, PRPE Type|RP with Preserved Paraarteriole Retinal Pigment Epithelium
C566662||Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
C565331||Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation
C566665||Split-Hand And Split-Foot With Hypodontia
D010518||Periodontitis|Pericementitides|Pericementitis|Periodontitides
C564009||Bladder Exstrophy and Epispadias Complex
C536807||Chromosome 3, monosomy 3p25|Deletion 3p25|Monosomy 3p25
C567523|312600||Retinitis Pigmentosa 2|RP2
D010510||Periodontal Diseases|Disease, Periodontal|Diseases, Periodontal|Parodontoses|Parodontosis|Periodontal Disease|Pyorrhea Alveolaris
D008200||Lymphangiectasis|Lymphangiectases
C536808||Chromosome 3, monosomy 3q13|Deletion 3q13|Monosomy 3q13
D008201||Lymphangiectasis, Intestinal|Intestinal Lymphangiectases|Intestinal Lymphangiectasis|Lymphangiectases, Intestinal|Lymphangiectasia, Intestinal
C536805||Chromosome 3, monosomy 3p14 p11|Deletion 3p14 p11|Monosomy 3p14 p11
D011843||Radiculopathy|Avulsion, Nerve Root|Avulsions, Nerve Root|Cervical Radiculopathies|Cervical Radiculopathy|Compression, Nerve Root|Compressions, Nerve Root|Inflammation, Nerve Root|Nerve Root Avulsion|Nerve Root Avulsions|Nerve Root Compression|Nerve Root Compressions|Nerve Root Disorder|Nerve Root Disorders|Nerve Root Inflammation|Nerve Root Inflammations|Radiculitides|Radiculitis|Radiculopathies|Radiculopathies, Cervical|Radiculopathy, Cervical
C579978||Catsper1-Related Nonsyndromic Male Infertility|Catsper1-Related Male Infertility|Catsper-Related Nonsyndromic Male Infertility
C536806||Chromosome 3, monosomy 3p2|Chromosome 3, deletion of distal 3p|Chromosome 3, distal 3p monosomy|Chromosome 3 distal deletion|Monosomy 3p2
D011842||Radicular Cyst|Apical Periodontal Cyst|Apical Periodontal Cysts|Cyst, Apical Periodontal|Cyst, Periapical|Cyst, Radicular|Cysts, Apical Periodontal|Cysts, Periapical|Cysts, Radicular|Periapical Cyst|Periapical Cysts|Periodontal Cyst, Apical|Periodontal Cysts, Apical|Radicular Cysts
D010514||Periodontal Pocket|Periodontal Pockets|Pocket, Periodontal|Pockets, Periodontal
C536809||Chromosome 3, monosomy 3q21 23|Deletion 3q21 23|Monosomy 3q21 23
C566670||Spinal Muscular Atrophy, Segmental
C536800||Chromosome 22, trisomy q11 q13|Duplication 22q11 q13|Trisomy 22q11 q13
C566671||Spinocerebellar Ataxia And Plaque-Like Deposits
C565340||Frontoocular Syndrome
C565341||Deafness, Autosomal Recessive 10|DFNB10
C536803||Chromosome 3 duplication syndrome
C536804||Chromosome 3, monosomy 3p|Chromosome 3, deletion 3p|Deletion 3p|Monosomy 3p
C563401|601042||Choreoathetosis/Spasticity, Episodic|Choreoathetosis, Kinesigenic, with Episodic Ataxia And Spasticity|Choreoathetosis, Paroxysmal, with Episodic Ataxia|CHOREOATHETOSIS/SPASTICITY, EPISODIC|CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA|Dystonia 9|DYT9
C566633||Peroxisome Biogenesis Disorder, Complementation Group 3
C566634||Peroxisome Biogenesis Disorder, Complementation Group 11
C566635||Peroxisome Biogenesis Disorder, Complementation Group R
D014091||Tooth Resorption|Resorptions, Tooth|Resorption, Tooth|Tooth Resorptions
C565304||Multiple Mitochondrial Dysfunctions Syndrome
D038062||Upper Extremity Deformities, Congenital|Upper Limb Deformities, Congenital
C566636||Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
D038061||Lower Extremity Deformities, Congenital|Lower Limb Deformities, Congenital
D014097||Tooth, Unerupted|Teeth, Unerupted|Unerupted Teeth|Unerupted Tooth
D014096||Tooth, Supernumerary|Fourth Molar|Fourth Molars|Molar, Fourth|Molars, Fourth|Supernumerary Teeth|Supernumerary Tooth|Teeth, Supernumerary
208500|C537571||Jeune syndrome|Asphyxiating Thoracic Chondrodystrophy|Asphyxiating Thoracic Dysplasia|Asphyxiating thoracic dystrophy|Asphyxiating Thoracic Dystrophy 1|Asphyxiating Thoracic Dystrophy (ATD)|ATD1|Chondroectodermal dysplasia-like syndrome|Infantile thoracic dystrophy|Jeune&apos;s syndrome|JEUNE SYNDROME|Jeune Thoracic Dysplasia|Jeune Thoracic Dystrophy|SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY|SRTD1|Thoracic Asphyxiant Dystrophy|Thoracic pelvic phalangeal dystrophy|Thoracic-Pelvic-Phalangeal Dystrophy
D014095||Tooth, Impacted|Impacted Teeth|Impacted Tooth|Teeth, Impacted
C566244|611493||Atrial Fibrillation, Familial, 4|ATFB4
C566632||Preaxial Hallucal Polydactyly
611073|C567022||Alzheimer Disease 12|AD12|Alzheimer Disease, Familial, 12
C538225|100300||Adams Oliver syndrome|Absence defect of limbs, scalp, and skull|Adams-Oliver syndrome|ADAMS-OLIVER SYNDROME 1|AOS|AOS1|Aplasia Cutis Congenita With Terminal Transverse Limb Defects|APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED|Aplasia cutis of the scalp|Congenital defect of skull and scalp|Congenital Scalp Defects With Distal Limb Reduction Anomalies|Familial aplasia cutis congenita of the scalp|Scalp and head syndrome|Scalp defect, congenital|Scalp defects with ectrodactyly
D011818||Rabies|Hydrophobia|Lyssa|Lyssas
D060825||Mild Cognitive Impairment|Cognitive Impairment, Mild|Cognitive Impairments, Mild|Impairment, Mild Cognitive|Impairments, Mild Cognitive|Mild Cognitive Impairments
C565306||Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
C566638||Superior Transverse Scapular Ligament, Calcification Of, Familial
C565308||Cerebellar Ataxia and Hypergonadotropic Hypogonadism
D004613|225500||Ellis-Van Creveld Syndrome|Chondroectodermal Dysplasia|Chondroectodermal Dysplasias|Creveld Dysplasia, Ellis-Van|Dysplasia, Chondroectodermal|Dysplasia, Ellis-Van Creveld|Dysplasias, Chondroectodermal|Ellis Van Creveld Dysplasia|Ellis-Van Creveld Dysplasia|Ellis Van Creveld Syndrome|EVC|MESOECTODERMAL DYSPLASIA|Syndrome, Ellis-Van Creveld
605751||SEIZURES, BENIGN FAMILIAL INFANTILE, 2|BFIC2|BFIS2|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2
C566644||Spondyloepimetaphyseal Dysplasia With Abnormal Dentition|SEMDAD
C565313||Cerebrooculonasal Syndrome
C565314||Tetralogy Of Fallot Syndrome, Autosomal Recessive
C566640||Platelet-Activating Factor Acetylhydrolase Deficiency
C566641||Glaucoma 1, Open Angle, C
C566643||Ichthyosis, Congenital, with Trichothiodystrophy|Trichothiodystrophy with Congenital Ichthyosis
D009508||Nevus, Pigmented|Melanocytic Nevi|Melanocytic Nevus|Nevi, Melanocytic|Nevi, Pigmented|Nevus, Melanocytic|Pigmented Moles|Pigmented Nevi|Pigmented Nevus
D009507||Nevus of Ota|Nevus, Ota&apos;s|Ota Nevus|Ota&apos;s Nevus|Otas Nevus
D009506||Nevus|Mole, Skin|Moles, Skin|Nevi|Skin Mole|Skin Moles
C565208|610260||Pyloric Stenosis, Infantile Hypertrophic, 2|IHPS2
C537134|311200||Orofaciodigital syndrome type1|OFD1|OFDS I|Oral-facial-digital syndrome, type 1|ORAL-FACIAL-DIGITAL SYNDROME, TYPE I|OROFACIODIGITAL SYNDROME I|PAPILLON-LEAGE AND PSAUME SYNDROME|Papillon-League-Psaume syndrome
C566648||Spina Bifida, Folate-Sensitive
D009503||Neutropenia|Neutropenias
D047868||Pulmonary Sclerosing Hemangioma|Hemangioma, Sclerosing, Pulmonary|Lung Sclerosing Hemangioma|Lung Sclerosing Hemangiomas|Pulmonary Sclerosing Hemangiomas|Sclerosing Hemangioma, Lung|Sclerosing Hemangioma of the Lung|Sclerosing Hemangioma, Pulmonary|Sclerosing Hemangiomas, Lung|Sclerosing Hemangiomas, Pulmonary
D060831||Hand-Foot Syndrome|Acral Erythema, Chemotherapy-Induced|Acral Erythemas, Chemotherapy-Induced|Chemotherapy Induced Acral Erythema|Chemotherapy-Induced Acral Erythema|Chemotherapy-Induced Acral Erythemas|Chemotherapy Induced Palmoplantar Erythrodysesthesia|Chemotherapy-Induced Palmoplantar Erythrodysesthesia|Chemotherapy-Induced Palmoplantar Erythrodysesthesias|Hand Foot Syndrome|Hand-Foot Syndromes|Palmoplantar Erythrodysesthesia, Chemotherapy-Induced|Palmoplantar Erythrodysesthesias, Chemotherapy-Induced|Syndrome, Hand-Foot|Syndromes, Hand-Foot
114450|C566179||Cancer, Familial, with In Vitro Radioresistance
C565784|604377||Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency|CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1|CEMCOX1|Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy
303100|D015794||Choroideremia|CHM|Choroideremias|Dystrophies, Progressive Tapetochoroidal|Dystrophy, Progressive Tapetochoroidal|Progressive Tapetochoroidal Dystrophies|Progressive Tapetochoroidal Dystrophy|Tapetochoroidal Dystrophies, Progressive|Tapetochoroidal Dystrophy, Progressive|TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE;TCD CHOROIDAL SCLEROSIS, INCLUDED
C562844|212067||Congenital Disorder Of Glycosylation, Type I/IIX|CDG-x
C562805|232240||Glycogen Storage Disease IC|GSD1C GLYCOGEN STORAGE DISEASE Id, INCLUDED|GSD1D, INCLUDED
C566650||Glaucoma Iridogoniodysplasia, Familial
D014098||Toothache|Odontalgia|Odontalgias|Toothaches
D014071||Tooth Abnormalities|Abnormalities, Teeth|Abnormalities, Tooth|Abnormality, Teeth|Abnormality, Tooth|Odontome|Odontomes|Teeth Abnormalities|Teeth Abnormality|Tooth Abnormality
C566613||Autoimmune Lymphoproliferative Syndrome, Type IA|ALPS1A
C566614||Autoimmune Lymphoproliferative Syndrome, Type IB|ALPS1B
D014075||Tooth Discoloration|Discolorations, Tooth|Discoloration, Tooth|Tooth Discolorations
C566870|211900||Tumoral Calcinosis, Hyperphosphatemic, Familial|Calcinosis, Tumoral, With Hyperphosphatemia|CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA|HFTC|HHS|HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME|HYPEROSTOSIS WITH HYPERPHOSPHATEMIA|Hyperphosphatemia Hyperostosis|Hyperphosphatemia Hyperostosis Syndrome|Hyperphosphatemia Tumoral Calcinosis|Hyperphosphatemic Familial Tumoral Calcinosis|Lipocalcinogranulomatosis|Morbus Teutschlaender|PHPTC|Primary Hyperphosphatemic Tumoral Calcinosis|Teutschlaender Disease, Familial|Tumoral Calcinosis, Primary Hyperphosphatemic
C566610||Left-Right Axis Malformations
D014072||Tooth Abrasion|Abrasion, Dental|Abrasion, Tooth|Dental Abrasion
C566615||Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive
D060845||Obsessive Hoarding|Hoarding|Hoarding, Obsessive|Hoardings|Hoardings, Obsessive|Obsessive Hoardings
D046548||Pubic Symphysis Diastasis|Diastases, Pubic Symphysis|Diastases, Symphysis Pubis|Diastasis, Pubic Symphysis|Diastasis Symphysis Pubis|Diastasis, Symphysis Pubis|Pubic Symphysis Diastases|Symphysis Pubis Diastases|Symphysis Pubis Diastasis|Symphysis Pubis, Diastasis
C579922||Ataxia Neuropathy Spectrum|Miras|Mitochondrial Recessive Ataxia Syndrome|Sando|Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia
D002095||Byssinosis|Brown Lung|Brown Lung Disease|Brown Lung Diseases|Brown Lungs|Byssinoses
609057|C563798||Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
D058529||Single Umbilical Artery|Single Umbilical Arteries|Two Vessel Cord|Two Vessel Cords|Umbilical Artery, Single
D014067||Tonsillar Neoplasms|Cancer of the Tonsil|Cancer of Tonsil|Cancers, Tonsil|Cancers, Tonsillar|Cancer, Tonsil|Cancer, Tonsillar|Neoplasms, Tonsil|Neoplasms, Tonsillar|Neoplasm, Tonsil|Neoplasm, Tonsillar|Tonsil Cancer|Tonsil Cancers|Tonsillar Cancer|Tonsillar Cancers|Tonsillar Neoplasm|Tonsil Neoplasm|Tonsil Neoplasms
D006011|232500||Glycogen Storage Disease Type IV|Amylopectinoses|Amylopectinosis|Andersen Disease|Andersen&apos;s Disease|Andersens Disease|Brancher Deficiencies|Brancher Deficiency|CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC, INCLUDED|Deficiencies, Brancher|Deficiencies, Gbe1|Deficiency, Brancher|Deficiency, Gbe1|Disease, Andersen|Disease, Andersen&apos;s|Gbe1 Deficiencies|Gbe1 Deficiency|Glycogen Branching Enzyme Deficiency|Glycogenoses, Type IV|Glycogenosis 4|Glycogenosis 4s|Glycogenosis IV|Glycogenosis IVs|Glycogenosis, Type IV|GLYCOGEN STORAGE DISEASE IV|Glycogen Storage Disease Type 4|GSD4|GSD IV|GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED|GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED|GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED|GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED|GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED|Type IV Glycogenoses|Type IV Glycogenosis
D005879|137580||Tourette Syndrome|Chronic Motor and Vocal Tic Disorder|Combined Multiple Motor and Vocal Tic Disorder|Combined Vocal and Multiple Motor Tic Disorder|Gilles de la Tourette&apos;s Disease|Gilles De La Tourette&apos;s Syndrome|Gilles de la Tourette Syndrome|GTS|Multiple Motor and Vocal Tic Disorder, Combined|Syndrome, Tourette&apos;s|Tic Disorder, Combined Vocal and Multiple Motor|Tourette Disease|Tourette Disorder|TOURETTE DISORDER CHRONIC MOTOR TICS, INCLUDED|Tourette&apos;s Disease|Tourettes Disease|Tourette&apos;s Disorder|Tourettes Disorder|Tourette&apos;s Syndrome|Tourettes Syndrome|TOURETTE SYNDROME|TS
D058527||Enteropathy-Associated T-Cell Lymphoma|Enteropathy Associated T Cell Lymphoma|Enteropathy-Associated T-Cell Lymphomas|Lymphomas, Enteropathy-Associated T-Cell|Lymphoma, T-Cell, Enteropathy-Associated|T Cell Lymphoma, Enteropathy Associated|T-Cell Lymphoma, Enteropathy-Associated|T-Cell Lymphomas, Enteropathy-Associated
D014069||Tonsillitis|Tonsillitides
C579928||Atelosteogenesis Type 3|Aoiii|Atelosteogenesis Type Iii
C566622||Spondylospinal Thoracic Dysostosis
D014082||Tooth Fractures|Fractures, Tooth|Fracture, Tooth|Tooth Fracture
C566623||Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
C565176|609140||Corneal Dystrophy, Posterior Polymorphous, 2|PPCD2
C566624||Peroxisome Biogenesis Disorder, Complementation Group K
C566625||Peroxisome Biogenesis Disorder, Complementation Group 13
D014086||Tooth Mobility|Mobilities, Tooth|Mobility, Tooth|Tooth Mobilities
D014085||Tooth Migration|Migration, Tooth|Tooth Drift|Tooth Drifting
D014084||Tooth Avulsion|Avulsed Tooth|Avulsions, Tooth|Avulsion, Tooth|Dislocations, Tooth|Dislocation, Tooth|Luxations, Tooth|Luxation, Tooth|Tooth, Avulsed|Tooth Avulsions|Tooth Dislocation|Tooth Dislocations|Tooth Luxation|Tooth Luxations
C566621||Premature Aging Syndrome, Okamoto Type
C563692|609887||Glaucoma 1, Open Angle, G|GLC1G
207410||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS|ABS2|MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES|OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES|TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
C566626||Peroxisome Biogenesis Disorder, Complementation Group H
C567441|600101||Deafness, Autosomal Dominant 2A|DFNA2A
C567477|300704||Prostate Cancer, Hereditary, X-Linked 2|HPCX2
C579932||Autosomal Dominant Nocturnal Frontal Lobe Epilepsy|Adnfle
D058531||46, XX Testicular Disorders of Sex Development|46, XX Gonadal Sex Reversal|46, XX Testicular Disorder of Sex Development|46, XX Testicular DSD|Gonadal Sex Reversal, 46, XX|Reversals, XX Sex|Reversal, XX Sex|Sex Reversal, Gonadal, 46, XX|Sex Reversals, XX|Sex Reversal, XX|Syndromes, XX Male|Syndrome, XX Male|XX Male Syndrome|XX Male Syndromes|XX Sex Reversal|XX Sex Reversals
C579934||Autosomal Recessive Cerebellar Ataxia Type 1|Arca1|Autosomal Recessive Spinocerebellar Ataxia 8|Recessive Ataxia of Beauce
D058533||Sex Chromosome Disorders of Sex Development|Chromosome DSD, Sex|Chromosome DSDs, Sex|DSD, Sex Chromosome|DSDs, Sex Chromosome|Sex Chromosome DSD|Sex Chromosome DSDs
C579935||Autosomal Recessive Primary Microcephaly|Microcephaly Primary Hereditary|Primary Autosomal Recessive Microcephaly|True Microcephaly
D014079||Tooth Eruption, Ectopic|Ectopic Tooth Eruption|Ectopic Tooth Eruptions|Eruption, Ectopic Tooth|Eruptions, Ectopic Tooth|Tooth Eruptions, Ectopic
C563481|166780||Otofaciocervical Syndrome|OFC|OFC1|Ofc Syndrome|OTOFACIOCERVICAL SYNDROME 1
D014077||Tooth Erosion|Erosions, Tooth|Erosion, Tooth|Tooth Erosions
D014076||Tooth Diseases|Diseases, Tooth|Disease, Tooth|Tooth Disease
D058536||Pyelectasis|Fetal Pyelectases|Fetal Pyelectasis|Prenatal Fetal Pyelectases|Prenatal Fetal Pyelectasis|Pyelectases|Pyelectases, Fetal|Pyelectasis, Fetal
D058535||Echogenic Bowel|Echogenic Bowels|Hyperechogenic Bowel|Hyperechogenic Bowels
C536453|122880||Craniofacial deafness hand syndrome|CDHS|Craniofacial-Deafness-Hand Syndrome
C564257|608323||Charcot-Marie-Tooth Disease, Dominant Intermediate C|Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C|CMTDIC|DI-CMTC
602668|C538009||Dystrophia myotonica 2|DM2|DYSTROPHIA MYOTONICA 2|Myotonic dystrophy 2|MYOTONIC MYOPATHY, PROXIMAL|PROMM|PROXIMAL MYOTONIC MYOPATHY|Ricker syndrome
607821|C564331||Deafness, Autosomal Recessive 37|DFNB37
D003397||Craniopharyngioma|Adamantinous Craniopharyngioma|Adamantinous Craniopharyngiomas|Adult Craniopharyngioma|Adult Craniopharyngiomas|Child Craniopharyngioma|Child Craniopharyngiomas|Craniopharyngioma, Adamantinous|Craniopharyngioma, Adult|Craniopharyngioma, Child|Craniopharyngioma, Papillary|Craniopharyngiomas|Craniopharyngiomas, Adamantinous|Craniopharyngiomas, Adult|Craniopharyngiomas, Child|Craniopharyngiomas, Papillary|Neoplasm, Rathke Cleft|Neoplasm, Rathke&apos;s Cleft|Neoplasm, Rathkes Cleft|Papillary Craniopharyngioma|Papillary Craniopharyngiomas|Rathke Cleft Neoplasm|Rathke Pouch Tumor|Rathke&apos;s Cleft Neoplasm|Rathkes Cleft Neoplasm|Rathke&apos;s Pouch Tumor|Rathkes Pouch Tumor|Tumor, Rathke Pouch|Tumor, Rathke&apos;s Pouch
C566627|601780||Ceroid Lipofuscinosis, Neuronal, 6|Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset|CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT, INCLUDED|CLN6|Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant|vLINCL, INCLUDED
D058545||Inhalant Abuse|Abuse, Glue|Abuse, Inhalant|Abuses, Glue|Abuses, Inhalant|Glue Abuse|Glue Abuses|Glue Sniffing|Glue Sniffings|Inhalant Abuses
C537847|609942||Noonan syndrome 3|NS3
D057215||Body Dysmorphic Disorders|Body Dysmorphic Disorder|Body Image Disfunction|Body Image Disfunctions|Body Image Disorder|Body Image Disorders|Disfunction, Body Image|Disfunctions, Body Image|Disorder, Body Dysmorphic|Disorders, Body Dysmorphic|Disorders, Body Image|Dysmorphic Disorder, Body|Dysmorphic Disorders, Body|Image Disfunction, Body|Image Disfunctions, Body|Image Disorders, Body
C537994|607684||Charcot-Marie-Tooth disease, Type 2E|Charcot-Marie-Tooth disease, axonal, Type 2E|Charcot-Marie-Tooth Neuropathy, Type 2e|CMT2e|CMT 2E
C538203|609952||Deafness, autosomal recessive 55|DFNB55
D014060||Tongue Diseases|Diseases, Tongue|Disease, Tongue|Microglossia|Microglossias|Tongue Disease
C567703|613217||Diarrhea 5, With Tufting Enteropathy, Congenital|CTE|DIAR5|Enteropathy, Congenital Tufting|Intestinal Epithelial Cell Dysplasia
D007619|244400||Kartagener Syndrome|Bronchiectasis, Polynesian|CILD1|Ciliary Dyskinesia, Primary|Ciliary Dyskinesia, Primary, 1|Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus|Dextrocardia, Bronchiectasis, and Sinusitis|DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED|Dyskinesia, Primary Ciliary|ICS|IMMOTILE CILIA SYNDROME|Kartagener&apos;s Syndrome|Kartageners Syndrome|Kartagener&apos;s Triad|Kartageners Triad|Kartagener Triad|PCD|Polynesian Bronchiectases|Polynesian Bronchiectasis|POLYNESIAN BRONCHIECTASIS KARTAGENER SYNDROME, INCLUDED|Primary Ciliary Dyskinesia|Siewert Syndrome|SIEWERT SYNDROME, INCLUDED|Syndrome, Kartagener|Syndrome, Kartagener&apos;s|Syndrome, Siewert
D014064||Tongue, Hairy|Hairy Tongue|Hairy Tongues|Tongues, Hairy
D014063||Tongue, Fissured|Fissured Tongue|Fissured Tongues|Furrowed Tongue|Furrowed Tongues|Lingua Plicata|Scrotal Tongue|Tongue, Furrowed|Tongues, Fissured|Tongues, Furrowed
D014062||Tongue Neoplasms|Cancer of the Tongue|Cancer of Tongue|Cancers, Tongue|Cancer, Tongue|Neoplasms, Tongue|Neoplasm, Tongue|Tongue Cancer|Tongue Cancers|Tongue Neoplasm
C566604||Deafness, Congenital Heart Defects, and Posterior Embryotoxon
C564674|606708||Split-Hand/Foot Malformation 5|SHFM5
C567418|612099||Trichoepithelioma, Multiple Familial, 2|MFT2
D059885||Kasabach-Merritt Syndrome|Hemangioma Thrombocytopenia Syndrome|Hemangioma-Thrombocytopenia Syndrome|Hemangioma Thrombocytopenia Syndromes|Kasabach Merritt Phenomenon|Kasabach-Merritt Phenomenon|Kasabach Merritt Syndrome|Phenomenon, Kasabach-Merritt|Syndrome, Hemangioma Thrombocytopenia|Syndrome, Kasabach-Merritt|Syndromes, Hemangioma Thrombocytopenia|Syndromes, Thrombocytopenia-Hemangioma|Syndrome, Thrombocytopenia-Hemangioma|Thrombocytopenia Hemangioma Syndrome|Thrombocytopenia-Hemangioma Syndrome|Thrombocytopenia-Hemangioma Syndromes
C563702|609541||Spastic Paraplegia, Optic Atrophy, and Neuropathy|SPOAN
C566601|613855||Episodic Ataxia, Type 5|EA5
D058631|265800||Pycnodysostosis|PKND|PYCD|Pycnodysostoses|Pyknodysostoses|Pyknodysostosis
C537088|112500||Brachydactyly type A1|BDA1|Brachydactyly, Farabee type|Brachydactyly, Type A1|Farabee-Type Brachydactyly
C536053|300373||Osteopathia striata cranial sclerosis|Hyperostosis Generalisata with Striations|OSCS|Osteopathia Striata with Cranial Sclerosis
D015362||Child Nutrition Disorders|Child Malnutrition|Child Nutrition Disorder|Child Overnutrition|Malnutrition, Child|Malnutrition in Children|Nutrition Disorder, Child|Nutrition Disorders, Child|Overnutrition, Child
C536681|600118||Warburg Sjo Fledelius syndrome|Micro Syndrome|WARBM1|Warburg micro syndrome|WARBURG MICRO SYNDROME 1
C538349|256030||Nemaline Myopathy 2|NEM2|Nemaline myopathy caused by mutation in the nebulin gene
C535374|125595||Dermatopathia pigmentosa reticularis|DPR
D053840|601144||Brugada Syndrome|BRGDA1|Brugada ECG Pattern|Brugada Syndrome 1|Brugada Type ECG Pattern|ECG Pattern, Brugada|Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome|Sudden Unexplained Death Syndrome|Sudden Unexplained Nocturnal Death Syndrome|Sudden Unexplained Nocturnal Death Syndrome (SUNDS)|SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME;SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
D002044||Bunyaviridae Infections|Bunyaviridae Infection|Bunyavirus Infection|Bunyavirus Infections|Infections, Bunyaviridae|Infections, Bunyavirus
D058565||Cerebral Ventriculitis|Cerebral Ventriculitides|Infectious Ventriculitides|Infectious Ventriculitis|Ventriculitides, Cerebral|Ventriculitides, Infectious|Ventriculitis, Cerebral|Ventriculitis, Infectious
D014029||Tobacco Use Disorder|Dependence, Nicotine|Dependence, Tobacco|Disorder, Nicotine Use|Disorder, Tobacco Use|Disorder, Tobacco-Use|Nicotine Dependence|Nicotine Use Disorder|Nicotine Use Disorders|Tobacco Dependence|Tobacco Dependences|Tobacco-Use Disorder|Tobacco Use Disorders|Use Disorder, Nicotine
D058566||Sacroiliitis|Pyogenic Sacroiliitides|Pyogenic Sacroiliitis|Sacroiliitides|Sacroiliitides, Pyogenic|Sacroiliitides, Septic|Sacroiliitis, Pyogenic|Sacroiliitis, Septic|Septic Sacroiliitides|Septic Sacroiliitis
141500||MIGRAINE, FAMILIAL HEMIPLEGIC, 1|FHM|FHM1|MHP1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED|MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED
D015355||Glaucoma, Neovascular|Glaucomas, Neovascular|Neovascular Glaucoma|Neovascular Glaucomas
D015354||Vision, Low|Diminished Vision|Low Vision|Reduced Vision|Subnormal Vision|Vision, Diminished|Vision, Reduced|Vision, Subnormal
D015352||Dry Eye Syndromes|Dry Eye Syndrome|Syndrome, Dry Eye|Syndromes, Dry Eye
D013920|187950||Thrombocythemia, Essential|Autosomal Dominant Thrombocytoses|Autosomal Dominant Thrombocytosis|Dominant Thrombocytoses, Autosomal|Dominant Thrombocytosis, Autosomal|Essential Thrombocythemia|Essential Thrombocythemias|Hemorrhagic Thrombocythemia|Hemorrhagic Thrombocythemias|Idiopathic Thrombocythemia|Idiopathic Thrombocythemias|Primary Thrombocythemia|Primary Thrombocythemias|Primary Thrombocytoses|Primary Thrombocytosis|THCYT1|THROMBOCYTHEMIA 1|Thrombocythemia, Hemorrhagic|Thrombocythemia, Idiopathic|Thrombocythemia, Primary|Thrombocythemias, Essential|Thrombocythemias, Hemorrhagic|Thrombocythemias, Idiopathic|Thrombocythemias, Primary|Thrombocytoses, Autosomal Dominant|Thrombocytoses, Primary|THROMBOCYTOSIS 1|Thrombocytosis, Autosomal Dominant|Thrombocytosis, Primary
D058568||Necrolytic Migratory Erythema|Erythema, Necrolytic Migratory|Erythemas, Necrolytic Migratory|Migratory Erythema, Necrolytic|Migratory Erythemas, Necrolytic|Necrolytic Migratory Erythemas|Pseudoglucagonoma Syndrome|Pseudoglucagonoma Syndromes|Syndrome, Pseudoglucagonoma|Syndromes, Pseudoglucagonoma
C563775|609200||Myotilinopathy|MFM3|MYOPATHY, MYOFIBRILLAR, 3|Myopathy, Myofibrillar, Myotilin-Related|MYOTILINOPATHY
D015356||Retinal Artery Occlusion|Branch Retinal Artery Occlusion|Central Retinal Artery Occlusion|Occlusion, Retinal Artery|Occlusions, Retinal Artery|Retinal Artery Occlusions
607641|C564362||Neuronopathy, Distal Hereditary Motor, Type Viib|DHMN7B|HMN7B|HMN VIIB|Lower Motor Neuron Disease, Dynactin Type|Neuropathy, Distal Hereditary Motor, Type VIIB|Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type VIIB
D045262||Reticulocytosis|Reticulocytoses
600901||FANCONI ANEMIA, COMPLEMENTATION GROUP E|FACE|FANCE
D002057||Burns, Chemical|Burn, Chemical|Chemical Burn|Chemical Burns
D002058||Burns, Electric|Burn, Electric|Electric Burn|Electric Burns
D003389||Cranial Nerve Diseases|Cranial Nerve Disease|Cranial Nerve Disorder|Cranial Nerve Disorders|Cranial Nerve Palsies|Cranial Nerve Palsy|Cranial Neuropathies|Cranial Neuropathies, Multiple|Cranial Neuropathy|Cranial Neuropathy, Multiple|Multiple Cranial Neuropathies|Multiple Cranial Neuropathy|Nervus Cranialis Disorder|Nervus Cranialis Disorders|Neuropathies, Cranial|Neuropathies, Multiple Cranial|Neuropathy, Cranial|Neuropathy, Multiple Cranial|Palsies, Cranial Nerve|Palsy, Cranial Nerve
D002059||Burns, Inhalation|Burn, Inhalation|Inhalation Burn|Inhalation Burns
118700|D002819||Chorea|BCH|Benign Hereditary Chorea|Benign Hereditary Choreas|BHC|Chorea, Benign Hereditary|Chorea, Chronic Progressive|Chorea Disorder|Chorea Disorders|Chorea, Hereditary|Chorea, Rheumatic|Choreas|Choreas, Benign Hereditary|Choreas, Chronic Progressive|Chorea, Senile|Choreas, Hereditary|Choreas, Rheumatic|Choreas, Senile|Choreas, Sydenham|Chorea, Sydenham|Chorea, Sydenham&apos;s|Chorea Syndrome|Chorea Syndromes|Choreatic Disorder|Choreatic Disorders|Choreatic Syndrome|Choreatic Syndromes|Choreic Movement|Choreic Movements|Choreiform Movement|Choreiform Movements|Chronic Progressive Chorea|Chronic Progressive Choreas|Disorder, Chorea|Disorder, Choreatic|Disorders, Chorea|Disorders, Choreatic|Dyskinesia, Paroxysmal|Dyskinesias, Paroxysmal|Hereditary Chorea|Hereditary Chorea, Benign|Hereditary Choreas|Hereditary Choreas, Benign|Hereditary Progressive Chorea Without Dementia|Movement, Choreic|Movement, Choreiform|Movements, Choreic|Movements, Choreiform|Paroxysmal Dyskinesia|Paroxysmal Dyskinesias|Progressive Chorea, Chronic|Progressive Choreas, Chronic|Rheumatic Chorea|Rheumatic Choreas|Senile Chorea|Senile Choreas|St. Vitus Dance|St. Vitus&apos;s Dance|St. Vituss Dance|St. Vitus&apos;s Dances|Sydenham Chorea|Sydenham Choreas|Sydenham&apos;s Chorea|Sydenhams Chorea|Syndrome, Chorea|Syndrome, Choreatic|Syndromes, Chorea|Syndromes, Choreatic
C567914||Palmoplantar Keratoderma, Vorner Type
D003384||Coxsackievirus Infections|Coxsackievirus Infection|Coxsackie Virus Infection|Coxsackie Virus Infections|Infections, Coxsackievirus|Infections, Coxsackie Virus
D002054||Burning Mouth Syndrome|Burning Mouth Syndromes|Mouth Syndrome, Burning|Mouth Syndromes, Burning|Syndrome, Burning Mouth|Syndromes, Burning Mouth
201100|C538178||Acrodermatitis enteropathica|Acrodermatitis enteropathica zinc deficiency type|Acrodermatitis Enteropathica, Zinc-Deficiency Type|AEZ
D002056||Burns|Burn
D003387||Cracked Tooth Syndrome|Cracked Tooth Syndromes|Syndrome, Cracked Tooth|Syndromes, Cracked Tooth
C562750|137760||Glaucoma, Primary Open Angle|GLAUCOMA 1, OPEN ANGLE, E, INCLUDED|GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED|GLC1E, INCLUDED|POAG
C536300|309510||Partington X-linked mental retardation syndrome|Mental retardation-dystonic movements-ataxia-seizures syndrome|Mental Retardation, X-Linked 36|Mental retardation, X-linked, syndromic 1|Mental retardation, X-linked, with dystonic movements, ataxia, and seizures|MRX36|MRXS1|Partington syndrome|PRTS
D002062||Bursitis|Adhesive Capsulitides|Adhesive Capsulitis|Bursitides|Capsulitides, Adhesive|Capsulitis, Adhesive|Frozen Shoulder
C536830|606777||De Vivo disease|Encephalopathy Due To Glut1 Deficiency|Glucose transport defect, blood-brain barrier|GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED|Glucose Transporter Protein Syndrome|Glucose Transporter Type 1 Deficiency Syndrome|Glucose transporter type1 (GLUT-1) deficiency|Glut1 Deficiency Syndrome|GLUT-1 deficiency syndrome|GLUT1 DEFICIENCY SYNDROME 1|GLUT1DS1
D003390||Cranial Nerve Neoplasms|Benign Cranial Nerve Neoplasms|Benign Cranial Nerve Tumors|Benign Cranial Neuroma|Benign Cranial Neuromas|Cranial Nerve Neoplasm|Cranial Nerve Neoplasms, Benign|Cranial Nerve Neoplasms, Malignant|Cranial Nerve Tumors, Benign|Cranial Nerve Tumors, Malignant|Cranial Neuroma, Benign|Cranial Neuromas, Benign|Malignant Cranial Nerve Neoplasms|Malignant Cranial Nerve Tumors|Neoplasm, Cranial Nerve|Neoplasms, Cranial Nerve|Neoplasms, Cranial Nerve, Benign|Neoplasms, Cranial Nerve, Malignant|Neuroma, Benign Cranial|Neuromas, Benign Cranial|Tumors, Cranial Nerve, Benign|Tumors, Cranial Nerve, Malignant
603188||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8|BMIQ8|OBESITY, SUSCEPTIBILITY TO
D030981||Acro-Osteolysis|Acroosteolysis|Acro Osteolysis|Acroosteolysis Syndrome|Acro-Osteolysis Syndrome|Acro-Osteolysis Syndromes
D014036||Togaviridae Infections|Diseases, Togaviridae|Disease, Togaviridae|Infections, Togaviridae|Infections, Togavirus|Infection, Togaviridae|Infection, Togavirus|Togaviridae Disease|Togaviridae Diseases|Togaviridae Infection|Togavirus Infection|Togavirus Infections
C566931|611497||Osteopetrosis, Autosomal Recessive 6|OPTB6|Osteopetrosis, Autosomal Recessive, Intermediate Form
C563315|601450||Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism|Hip, Congenital Dislocation of, with Hyperextensibility of Fingers and Facial Dysmorphism
148190|C537022||Keratitis, hereditary|Dominantly inherited keratitis
D016697||Herpes Zoster Oticus|Auricular Syndrome of Ramsay Hunt|Ganglionitis, Herpetic Geniculate|Geniculate Ganglionitides, Herpetic|Geniculate Ganglionitis, Herpetic|Geniculate Herpes Zoster|Geniculate Neuralgia|Geniculate Neuralgias|Herpes Zoster Auricularis|Herpes Zoster Cephalicus|Herpes Zoster, Geniculate|Herpetic Geniculate Ganglionitides|Herpetic Geniculate Ganglionitis|Neuralgia, Geniculate|Neuralgias, Geniculate|Ramsay Hunt Auricular Syndrome|Ramsay Hunt Syndrome|Syndrome, Ramsay Hunt
C536766|278750||Xeroderma pigmentosum, variant type|Photosensitivity with defective DNA synthesis|Xeroderma pigmentosum with normal DNA repair rates|XPV
C538375|606762||Hyperinsulinemic hypoglycemia, familial, 6|HHF6|Hyperinsulinism-hyperammonemia syndrome
D004688||Encopresis
D004683||Encephalomyelitis, Equine|Encephalitis, Equine|Equine Encephalitis|Equine Encephalomyelitis|Equine Encephalomyelitis Viral Infections|Equine Encephalomyelitis Virus Infections|Infections, Equine Encephalomyelitis Virus
D004682||Encephalomyelitis, Enzootic Porcine|Disease, Talfan|Disease, Teschen|Enzootic Porcine Encephalomyelitis|Poliomyelitis, Porcine|Porcine Encephalomyelitis, Enzootic|Porcine Poliomyelitis|Talfan Disease|Teschen Disease
D004685||Encephalomyelitis, Venezuelan Equine|Encephalitis, Venezuelan Equine|Encephalomyelitides, Venezuelan Equine|Equine Encephalitis, Venezuelan|Equine Encephalomyelitides, Venezuelan|Equine Encephalomyelitis, Venezuelan|Venezuelan Equine Encephalitis|Venezuelan Equine Encephalomyelitides|Venezuelan Equine Encephalomyelitis
D004684||Leukoencephalitis, Acute Hemorrhagic|Acute Hemorrhagic Leukoencephalitides|Acute Hemorrhagic Leukoencephalitis|Acute Necrotizing Encephalitides|Acute Necrotizing Encephalitis|Disease, Hurst|Disease, Hurst&apos;s|Encephalitides, Acute Necrotizing|Encephalitis, Acute Necrotizing|Encephalomyelitides, Hemorrhagic Necrotizing|Encephalomyelitis, Acute Necrotizing Hemorrhagic|Encephalomyelitis, Hemorrhagic Necrotizing|Encephalomyelitis, Necrotizing Hemorrhagic|Hemorrhagic Encephalomyelitides, Necrotizing|Hemorrhagic Encephalomyelitis, Necrotizing|Hemorrhagic Leukoencephalitides, Acute|Hemorrhagic Leukoencephalitides, Subacute|Hemorrhagic Leukoencephalitis, Acute|Hemorrhagic Leukoencephalitis, Subacute|Hemorrhagic Necrotizing Encephalomyelitis|Hurst Disease|Hurst&apos;s Disease|Hursts Disease|Hurst Syndrome|Leukoencephalitides, Acute Hemorrhagic|Leukoencephalitides, Subacute Hemorrhagic|Leukoencephalitis Acuta Hemorrhagica|Leukoencephalitis, Subacute Hemorrhagic|Necrotizing Encephalitides, Acute|Necrotizing Encephalitis, Acute|Necrotizing Encephalomyelitides, Hemorrhagic|Necrotizing Encephalomyelitis, Hemorrhagic|Necrotizing Hemorrhagic Encephalomyelitides|Necrotizing Hemorrhagic Encephalomyelitis|Subacute Hemorrhagic Leukoencephalitides|Subacute Hemorrhagic Leukoencephalitis|Syndrome, Hurst
D003354||Corynebacterium Infections|Corynebacterium Infection|Infection, Corynebacterium|Infections, Corynebacterium
D014009||Onychomycosis|Fungus, Nail|Nail Fungus|Onychomycoses|Tinea Ungui|Tinea Unguis|Tinea Unguium|Tinea Unguiums|Unguis, Tinea|Ungui, Tinea|Unguiums, Tinea|Unguium, Tinea
C535301|605253||Charcot-Marie-Tooth disease, Type 4E|CHARCOT-MARIE-TOOTH DISEASE, TYPE 4E|Charcot-Marie-Tooth Neuropathy, Type 4e|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4E NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT, INCLUDED|CHN|CMT4E|Congenital Hypomyelinating Neuropathy|Congenital hypomyelinating neuropathy (CHN)|Hypomyelination, severe congenital|Neuropathy, congenital hypomyelinating|NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE
D004692||Endarteritis|Endarteritides
D014008||Tinea Pedis|Athlete Foot|Athlete&apos;s Foot|Athletes Foot
D014007||Tinea Favosa|Favus
C537990|605588||Charcot-Marie-Tooth disease, Type 2B1|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, 2B1|Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1|Charcot-Marie-Tooth disease, axonal, Type 2B1|Charcot-Marie-Tooth disease, neuronal, Type 2B1|Charcot-Marie-Tooth Neuropathy, Type 2b1|CMT2B1
154400|C538184||Acrofacial dysostosis, Nager type|Acrofacial Dysostosis 1, Nager Type|Afd1|AFD, Nager type|Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|Nager Acrofacial Dysostosis|Nager Acrofacial Dysostosis Syndrome|Nager syndrome|Preaxial acrofacial dysostosis|Preaxial Mandibulofacial Dysostosis
D014006||Tinea Capitis|Barbae, Trichophytia Profunda|Capitides, Trichophytia Profunda|Capitis Profundas, Tinea|Capitis Profunda, Tinea|Capitis, Trichophytia Profunda|Kerion Celsi|Profunda Barbae, Trichophytia|Profunda Capitides, Trichophytia|Profunda Capitis, Trichophytia|Profundas, Tinea Capitis|Profunda, Tinea Capitis|Tinea Capitis Profunda|Tinea Capitis Profundas|Trichophytia Profunda Barbae|Trichophytia Profunda Capitides|Trichophytia Profunda Capitis
D014005||Tinea|Dermatophytoses|Dermatophytosis|Epidermophytoses|Epidermophytosis|Ringworm|Tineas|Trichophytoses|Trichophytosis
C566587|602078||Fibrosis Of Extraocular Muscles, Congenital, 2|CFEOM2|FEOM2 LOCUS|Fibrosis Of Extraocular Muscles, Congenital, Autosomal Recessive
D004698||Endocarditis, Subacute Bacterial|Bacterial Endocarditides, Subacute|Bacterial Endocarditis, Subacute|Endocarditides, Subacute Bacterial|Endocarditis Lenta|Subacute Bacterial Endocarditides|Subacute Bacterial Endocarditis
D004697||Endocarditis, Bacterial|Bacterial Endocarditides|Bacterial Endocarditis|Endocarditides, Bacterial
C564921|259440||Osteogenesis Imperfecta, Type IX|OI9|OI, Type IX|Osteogenesis Imperfecta, Sillence Type II/III, Without Abnormality of Type I Collagen
D002037||Bundle-Branch Block|Anterior Fascicular Block|Anterior Fascicular Blocks|Block, Anterior Fascicular|Block, Bundle Branch|Block, Bundle-Branch|Block, Fascicular|Block, Left Bundle-Branch|Block, Posterior Fascicular|Block, Right Bundle-Branch|Blocks, Anterior Fascicular|Blocks, Bundle Branch|Blocks, Bundle-Branch|Blocks, Fascicular|Blocks, Left Bundle-Branch|Blocks, Posterior Fascicular|Blocks, Right Bundle-Branch|Branch Block, Bundle|Branch Blocks, Bundle|Bundle Branch Block|Bundle-Branch Block, Left|Bundle-Branch Block, Right|Bundle Branch Blocks|Bundle-Branch Blocks|Bundle-Branch Blocks, Left|Bundle-Branch Blocks, Right|Fascicular Block|Fascicular Block, Anterior|Fascicular Block, Posterior|Fascicular Blocks|Fascicular Blocks, Anterior|Fascicular Blocks, Posterior|Left Bundle Branch Block|Left Bundle-Branch Block|Left Bundle-Branch Blocks|Posterior Fascicular Block|Posterior Fascicular Blocks|Right Bundle Branch Block|Right Bundle-Branch Block|Right Bundle-Branch Blocks
C537250|603553||Hemophagocytic lymphohistiocytosis, familial, 2|FHL2|HLH2|HPLH2
D004694||Endocardial Cushion Defects|Cushion Defect, Endocardial|Cushion Defects, Endocardial|Defect, Endocardial Cushion|Defects, Endocardial Cushion|Endocardial Cushion Defect|Persistent Common Atrioventricular Canal
D002032||Bulimia|Binge Eating|Bulimias|Eating, Binge
D004696||Endocarditis|Endocarditides|Endocarditides, Infective|Endocarditis, Infective|Infective Endocarditides|Infective Endocarditis
D004695||Endocardial Fibroelastosis|Endocardial Fibroelastoses|Endomyocardial Fibroelastosis|Fibroelastoses, Endocardial|Fibroelastosis, Endocardial
C567090|611762||Familial Cold Autoinflammatory Syndrome 2|FCAS2
D003371||Cough|Coughs
219750|C535765||Cystinosis, ocular nonnephropathic|Cystinosis, adult, nonnephropathic|Cystinosis, Adult Nonnephropathic|Cystinosis, benign, nonnephropathic|Cystinosis, Benign Nonnephropathic|CYSTINOSIS, OCULAR NONNEPHROPATHIC|Ocular nonnephropathic cystinosis
D014012||Tinnitus|Clicking Tinnitus|Induced Tinnitus, Noise|Leudet&apos;s Tinnitus|Leudet Tinnitus|Noise Induced Tinnitus|Objective Tinnitus|Pulsatile Tinnitus|Ringing Buzzing Tinnitus|Ringing-Buzzing-Tinnitus|Spontaneous Oto Acoustic Emission Tinnitus|Spontaneous Oto-Acoustic Emission Tinnitus|Subjective Tinnitus|Tensor Palatini Induced Tinnitus|Tensor Tympani Induced Tinnitus|Tinnitus, Clicking|Tinnitus, Leudet|Tinnitus, Leudets|Tinnitus, Leudet&apos;s|Tinnitus, Noise Induced|Tinnitus, Objective|Tinnitus of Vascular Origin|Tinnitus, Pulsatile|Tinnitus, Spontaneous Oto Acoustic Emission|Tinnitus, Spontaneous Oto-Acoustic Emission|Tinnitus, Subjective|Tinnitus, Tensor Palatini Induced|Tinnitus, Tensor Tympani Induced|Tinnitus, Vascular Origin|Vascular Origin Tinnitus
D014010||Tinea Versicolor|Pityriasis Versicolor
C565016|135400||Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia|Chromosome 17q24.2-q24.3 Deletion Syndrome|Fibromatosis, Gingival, with Hypertrichosis|Microdeletion 17q24.2-q24.3 Syndrome
D016672||Zenker Diverticulum|Diverticula, Esophago-Pharyngeal|Diverticula, Pharyngeal|Diverticula, Pharyngoesophageal|Diverticula, Pharyngo-Esophageal|Diverticula, Pharyngoesophageal Pulsion|Diverticula, Zenker&apos;s|Diverticulum, Esophagopharyngeal|Diverticulum, Esophago-Pharyngeal|Diverticulum, Pharyngeal|Diverticulum, Pharyngoesophageal|Diverticulum, Pharyngo-Esophageal|Diverticulum, Pharyngoesophageal Pulsion|Diverticulums, Esophagopharyngeal|Diverticulum, Zenker|Diverticulum, Zenker&apos;s|Esophago Pharyngeal Diverticula|Esophago-Pharyngeal Diverticula|Esophagopharyngeal Diverticulum|Esophago Pharyngeal Diverticulum|Esophago-Pharyngeal Diverticulum|Esophagopharyngeal Diverticulums|Pharyngeal Diverticula|Pharyngeal Diverticulum|Pharyngoesophageal Diverticula|Pharyngo Esophageal Diverticula|Pharyngo-Esophageal Diverticula|Pharyngoesophageal Diverticulum|Pharyngo Esophageal Diverticulum|Pharyngo-Esophageal Diverticulum|Pharyngoesophageal Pulsion Diverticula|Pharyngoesophageal Pulsion Diverticulum|Pulsion Diverticula, Pharyngoesophageal|Pulsion Diverticulum, Pharyngoesophageal|Zenker Diverticula|Zenker&apos;s Diverticula|Zenkers Diverticula|Zenker&apos;s Diverticulum|Zenkers Diverticulum
D002006||Brucellosis|Brucelloses|Brucelloses, Pulmonary|Brucellosis, Pulmonary|Cyprus Fever|Cyprus Fevers|Fever, Cyprus|Fever, Gibraltar|Fever, Malta|Fever, Rock|Fevers, Cyprus|Fevers, Rock|Fevers, Undulant|Fever, Undulant|Gibraltar Fever|Malta Fever|Pulmonary Brucelloses|Pulmonary Brucellosis|Rock Fever|Rock Fevers|Undulant Fever|Undulant Fevers
D002007||Brucellosis, Bovine|Bang Disease|Bang&apos;s Disease|Bangs Disease|Bovine Brucelloses|Bovine Brucellosis|Brucelloses, Bovine|Disease, Bang|Disease, Bang&apos;s
D004660||Encephalitis|Brain Inflammation|Brain Inflammations|Encephalitides, Infectious|Encephalitis, Infectious|Encephalitis, Rasmussen|Infectious Encephalitides|Infectious Encephalitis|Inflammation, Brain|Rasmussen Encephalitis|Rasmussen&apos;s Syndrome|Rasmussen Syndrome
D003330||Coronary Vessel Anomalies|Anomalies, Coronary Vessel|Anomaly, Coronary Vessel|Coronary Vessel Anomaly
D015318||Fructose Metabolism, Inborn Errors
500004|D052245||Usher Syndromes|Deafness Retinitis Pigmentosa Syndrome|Deafness-Retinitis Pigmentosa Syndrome|Deafness-Retinitis Pigmentosa Syndromes|Dystrophia Retinae Pigmentosa Dysostosis Syndrome|Dystrophia Retinae Pigmentosa-Dysostosis Syndrome|Graefe Usher Syndrome|Graefe-Usher Syndrome|Hallgren Syndrome|Pigmentosa Syndromes, Deafness-Retinitis|RETINITIS PIGMENTOSA 21, FORMERLY|RETINITIS PIGMENTOSA 8, FORMERLY|Retinitis Pigmentosa And Congenital Deafness|Retinitis Pigmentosa Deafness Syndrome|Retinitis Pigmentosa-Deafness Syndrome|Retinitis Pigmentosa-Deafness Syndromes|RP21, FORMERLY|RP8, FORMERLY|Syndrome, Deafness-Retinitis Pigmentosa|Syndrome, Graefe-Usher|Syndrome, Hallgren|Syndrome, Retinitis Pigmentosa-Deafness|Syndromes, Deafness-Retinitis Pigmentosa|Syndromes, Retinitis Pigmentosa-Deafness|Syndromes, Usher|Syndrome, Usher|Syndrome, Usher&apos;s|Usher&apos;s Syndrome|Ushers Syndrome|Usher Syndrome|Usher Syndrome, Type 1|Usher Syndrome, Type 1A|Usher Syndrome, Type 3|Usher Syndrome, Type I|Usher Syndrome, Type I, French Variety|Usher Syndrome, Type II|Usher Syndrome, Type IId|Usher Syndrome, Type III
D004670||Encephalitis, California|California Encephalitis|California Viral Encephalitides|California Viral Encephalitis|Encephalitides, California Viral|Encephalitis, California Viral|Encephalitis, California, Viral|Viral Encephalitides, California|Viral Encephalitis, California
D006432|235200||Hemochromatosis|Bronzed Cirrhoses|Bronzed Cirrhosis|Bronze Diabetes|Cirrhoses, Bronzed|Cirrhoses, Pigmentary|Cirrhosis, Bronzed|Cirrhosis, Pigmentary|Diabetes, Bronze|Diseases, Von Recklenhausen-Applebaum|Disease, Von Recklenhausen-Applebaum|Disorder, Iron Storage|Disorders, Iron Storage|Familial Hemochromatoses|Familial Hemochromatosis|Genetic Hemochromatoses|Genetic Hemochromatosis|Haemochromatoses|Haemochromatosis|Hemochromatose|Hemochromatoses|Hemochromatoses, Familial|Hemochromatoses, Genetic|HEMOCHROMATOSIS|Hemochromatosis, Familial|Hemochromatosis, Genetic|HEMOCHROMATOSIS, HEREDITARY|HEMOCHROMATOSIS, TYPE 1|HFE|HFE1|HH|Iron Storage Disorder|Iron Storage Disorders|Pigmentary Cirrhoses|Pigmentary Cirrhosis|Primary Hemochromatosis|Recklenhausen-Applebaum Diseases, Von|Recklenhausen-Applebaum Disease, Von|Storage Disorder, Iron|Storage Disorders, Iron|Syndromes, Troisier-Hanot-Chauffard|Syndrome, Troisier-Hanot-Chauffard|Troisier Hanot Chauffard Syndrome|Troisier-Hanot-Chauffard Syndrome|Troisier-Hanot-Chauffard Syndromes|Von Recklenhausen Applebaum Disease|Von Recklenhausen-Applebaum Disease|Von Recklenhausen-Applebaum Diseases
C535279|608646||Primary ciliary dyskinesia, 4|CILD4|Ciliary Dyskinesia, Primary, 4|Ciliary Dyskinesia, Primary, 4, with or without Situs Inversus
D016643||Encephalopathy, Bovine Spongiform|Bovine Spongiform Encephalitis|Bovine Spongiform Encephalopathy|BSE (Bovine Spongiform Encephalopathy)|BSEs (Bovine Spongiform Encephalopathy)|Encephalitis, Bovine Spongiform|Mad Cow Disease|Mad Cow Diseases|Spongiform Encephalopathy, Bovine
D016640||Diabetes, Gestational|Diabetes Mellitus, Gestational|Diabetes, Pregnancy Induced|Diabetes, Pregnancy-Induced|Gestational Diabetes|Gestational Diabetes Mellitus|Pregnancy-Induced Diabetes
C566425|602772||Retinitis Pigmentosa 25|RP25
D004679||Encephalomyelitis|Encephalomyelitis, Inflammatory|Inflammatory Encephalomyelitis|Myeloencephalitides|Myeloencephalitis
C567191|146450||Hypospadias 3, Autosomal|HYSP3
D004675||Encephalitis, Tick-Borne|Central European Encephalitis|Encephalitides, European Tick-Borne|Encephalitides, Louping Ill|Encephalitides, Powassan|Encephalitides, Tick-Borne|Encephalitis, Central European|Encephalitis, European Tick Borne|Encephalitis, European Tick-Borne|Encephalitis, Far Eastern Russian|Encephalitis, Louping Ill|Encephalitis, Powassan|Encephalitis, Russian Spring Summer|Encephalitis, Russian Spring-Summer|Encephalitis, Tick Borne|European Tick-Borne Encephalitides|European Tick Borne Encephalitis|European Tick-Borne Encephalitis|Far Eastern Russian Encephalitis|Louping Ill Encephalitides|Louping Ill Encephalitis|Powassan Encephalitides|Powassan Encephalitis|Russian Spring Summer Encephalitis|Russian Spring-Summer Encephalitis|Spring-Summer Encephalitis, Russian|Tick-Borne Encephalitides|Tick-Borne Encephalitides, European|Tick Borne Encephalitis|Tick-Borne Encephalitis|Tick-Borne Encephalitis, European
D004678||Encephalomalacia|Cerebromalacia|Cerebromalacias|Encephalomalacia, Multicystic|Encephalomalacias|Encephalomalacias, Multicystic|Multicystic Encephalomalacia|Multicystic Encephalomalacias
D004677||Encephalocele|Acquired Encephalocele|Acquired Encephaloceles|Bifid Cranium|Bifid Craniums|Bifidum, Cranium|Bifidums, Cranium|Cephalocele|Cephaloceles|Cerebellar Hernia|Cerebellar Hernias|Cerebellar Herniation|Cerebellar Herniations|Cerebral Hernia|Cerebral Hernias|Cranial Meningoencephalocele|Cranial Meningoencephaloceles|Craniocele|Cranioceles|Cranium, Bifid|Cranium Bifidum|Cranium Bifidums|Craniums, Bifid|Encephalocele, Acquired|Encephalocele, Frontal|Encephalocele, Occipital|Encephaloceles|Encephaloceles, Acquired|Encephaloceles, Frontal|Encephalocele, Sincipital|Encephaloceles, Occipital|Encephaloceles, Sincipital|Frontal Encephalocele|Frontal Encephaloceles|Hernia, Cerebellar|Hernia, Cerebral|Hernias, Cerebellar|Hernias, Cerebral|Hernias, Tonsillar|Herniation, Cerebellar|Herniations, Cerebellar|Herniations, Tonsillar|Herniation, Tonsillar|Hernia, Tonsillar|Meningoencephalocele, Cranial|Meningoencephaloceles, Cranial|Notoencephalocele|Notoencephaloceles|Occipital Encephalocele|Occipital Encephaloceles|Sincipital Encephalocele|Sincipital Encephaloceles|Tonsillar Hernia|Tonsillar Hernias|Tonsillar Herniation|Tonsillar Herniations
D004672||Encephalitis, Japanese|Encephalitis, Japanese B|Japanese B Encephalitis|Japanese B Viral Encephalitis|Japanese Encephalitis|Viral Encephalitis, Japanese B
C562591|278730||Xeroderma Pigmentosum, Complementation Group D|TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED|TTD1, INCLUDED|Xeroderma Pigmentosum IV|XERODERMA PIGMENTOSUM IV;XP4 TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED|XERODERMA PIGMENTOSUM VIII, FORMERLY|XP4|XP8, FORMERLY|XPD|XPDC|XP, Group D|XP, GROUP H, FORMERLY|XPH, FORMERLY
D004671||Encephalitis, Arbovirus|Arbovirus Encephalitides|Arbovirus Encephalitis|Arthropod-Borne Encephalitides|Arthropod Borne Encephalitis|Arthropod-Borne Encephalitis|Arthropod-Borne Viral Encephalitides|Arthropod Borne Viral Encephalitis|Arthropod-Borne Viral Encephalitis|Encephalitides, Arbovirus|Encephalitides, Arthropod-Borne|Encephalitides, Arthropod-Borne Viral|Encephalitides, Epidemic|Encephalitides, Mosquito-Borne|Encephalitis, Arthropod Borne|Encephalitis, Arthropod-Borne|Encephalitis, Arthropod-Borne Viral|Encephalitis, Epidemic|Encephalitis, Mosquito Borne|Encephalitis, Mosquito-Borne|Epidemic Encephalitides|Epidemic Encephalitis|Mosquito-Borne Encephalitides|Mosquito Borne Encephalitis|Mosquito-Borne Encephalitis|Viral Encephalitides, Arthropod-Borne|Viral Encephalitis, Arthropod Borne|Viral Encephalitis, Arthropod-Borne
D004674||Encephalitis, St. Louis|Encephalitis, Saint Louis|Encephalitis, Viral, St. Louis|Lethargic Encephalitis, Type C|Louis Meningoencephalitides, St.|Meningoencephalitides, St. Louis|Meningoencephalitis, St. Louis|Saint Louis Encephalitis|St. Louis Encephalitis|St. Louis Meningoencephalitides|St. Louis Meningoencephalitis|St. Louis Viral Encephalitis|Type C Lethargic Encephalitis
C567729|613144||Choroidal Dystrophy, Central Areolar 3|CACD3|Choroidal Dystrophy, Central Areolar, With Or Without Drusen
D004673||Encephalomyelitis, Acute Disseminated|Acute Disseminated Encephalomyelitides|Acute Disseminated Encephalomyelitis|Disseminated Encephalomyelitides, Acute|Disseminated Encephalomyelitis, Acute|Encephalitides, Post-Vaccinal|Encephalitis, Postvaccinal|Encephalitis, Post Vaccinal|Encephalitis, Post-Vaccinal|Encephalitis, Vaccination|Encephalomyelitides, Acute Disseminated|Encephalomyelitides, Post-Vaccinal|Encephalomyelitis, Postexanthem|Encephalomyelitis, Postinfectious|Encephalomyelitis, Post-Vaccinal|Postexanthem Encephalomyelitis|Postinfectious Encephalomyelitis|Post-Vaccinal Encephalitides|Postvaccinal Encephalitis|Post Vaccinal Encephalitis|Post-Vaccinal Encephalitis|Post-Vaccinal Encephalomyelitides|Post Vaccinal Encephalomyelitis|Post-Vaccinal Encephalomyelitis|Vaccination Encephalitis
D002012||Bruxism|Disorders, Teeth Grinding|Disorder, Teeth Grinding|Grinding Disorders, Teeth|Grinding Disorder, Teeth|Teeth Grinding Disorder|Teeth Grinding Disorders
D004681||Encephalomyelitis, Autoimmune, Experimental|Allergic Encephalomyelitis|Allergic Encephalomyelitis, Experimental|Autoimmune Encephalomyelitis, Experimental|Autoimmune Experimental Encephalomyelitis|Encephalomyelitis, Allergic|Encephalomyelitis, Autoimmune Experimental|Encephalomyelitis, Experimental Allergic|Encephalomyelitis, Experimental Autoimmune|Experimental Allergic Encephalomyelitides|Experimental Allergic Encephalomyelitis|Experimental Autoimmune Encephalomyelitis|Experimental Encephalomyelitis, Autoimmune
C536510|249270||Thiamine responsive megaloblastic anemia syndrome|Abboud syndrome|Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness|Rogers syndrome|THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE)|Thiamine-Responsive Anemia Syndrome|Thiamine-Responsive Megaloblastic Anemia Syndrome|Thiamine responsive myelodysplasia|Thiamine-Responsive Myelodysplasia|THMD1|TRMA
C562908|187260||Telangiectasia, Hereditary Benign|HBT|TELANGIECTASIA, GENERALIZED ESSENTIAL
D016659||Psoas Abscess|Abscesses, Iliopsoas|Abscesses, Psoas|Abscesses, Pyogenic Iliopsoas|Abscess, Iliopsoas|Abscess, Psoas|Abscess, Pyogenic Iliopsoas|Iliopsoas Abscess|Iliopsoas Abscesses|Iliopsoas Abscesses, Pyogenic|Iliopsoas Abscess, Pyogenic|Psoas Abscesses|Pyogenic Iliopsoas Abscess|Pyogenic Iliopsoas Abscesses
C567498|611897||Nanophthalmos 3|Nanophthalmia 3|NNO3
D016657||Cerebral Amyloid Angiopathy|Amyloid Angiopathy, Cerebral|Angiopathy, Cerebral Amyloid|Angiopathy, Congophilic|Cerebral Amyloid Angiopathies|Congophilic Angiopathies|Congophilic Angiopathy|Sporadic Cerebral Amyloid Angiopathy
D015323||Pyruvate Metabolism, Inborn Errors
C536190|225280||Ectodermal dysplasia, ectrodactyly, and macular dystrophy|ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY|Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy|EEM Syndrome
C537527|245050||Succinyl-CoA:3-oxoacid CoA transferase deficiency|3-Oxoacid Coa Transferase Deficiency|Ketoacidosis due to SCOT deficiency|SCOT deficiency|Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency|Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency|Succinyl-Coa 3-Oxoacid Transferase Deficiency|Succinyl-Coa:Acetoacetate Transferase Deficiency
D002105||Cadmium Poisoning|Cadmium Poisonings|Itai Itai|Itai-Itai|Poisoning, Cadmium|Poisonings, Cadmium
D004767||Enterotoxemia|Enterotoxemias
D054908||Extensively Drug-Resistant Tuberculosis|Drug-Resistant Tuberculoses, Extensively|Drug-Resistant Tuberculoses, Extremely|Drug-Resistant Tuberculosis, Extensively|Drug-Resistant Tuberculosis, Extremely|Extensively Drug-Resistant Tuberculoses|Extensively Drug Resistant Tuberculosis|Extremely Drug-Resistant Tuberculoses|Extremely Drug Resistant Tuberculosis|Extremely Drug-Resistant Tuberculosis|Tuberculoses, Extensively Drug-Resistant|Tuberculoses, Extremely Drug-Resistant|Tuberculosis, Extensively Drug Resistant|Tuberculosis, Extensively Drug-Resistant|Tuberculosis, Extremely Drug Resistant|Tuberculosis, Extremely Drug-Resistant|XDR-TB
D004769||Enterovirus Infections|Enterovirus Infection|Infection, Enterovirus|Infections, Enterovirus
C567306|612447||Skeletal Defects, Genital Hypoplasia, And Mental Retardation
128100|C538005||Dystonia musculorum deformans type 1|Dystonia 1, Torsion, Autosomal Dominant|Dystonia Musculorum Deformans 1|Dyt1|Early-Onset Generalized Torsion Dystonia|Early-Onset Primary Dystonia|Early onset torsion dystonia|Early-Onset Torsion Dystonia|EOTD|Oppenheim Dystonia|Oppenheim&apos;s Dystonia|Primary Torsion Dystonia|Torsion dystonia 1, autosomal dominant
D002102||Cadaver|Cadavers|Corpse|Corpses
D004760||Enterocolitis|Enterocolitides
610217||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B|NBIA2B|NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME, INCLUDED|NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
C536044|259420||Osteogenesis imperfecta, type 3|OI3|OI, TYPE III|Osteogenesis imperfecta, progressively deforming, with normal sclerae|Osteogenesis Imperfecta, Type III
D004761||Enterocolitis, Pseudomembranous|Antibiotic Associated Colitis|Antibiotic-Associated Colitis|Clostridium Enterocolitis|Colitis, Antibiotic-Associated|Colitis, Pseudomembranous|Enteritis, Pseudomembranous|Pseudomembranous Colitis|Pseudomembranous Enteritis|Pseudomembranous Enterocolitis
D002100||Cachexia
C567422|612095||Retinitis Pigmentosa 41|Retinal Degeneration, Autosomal Recessive, Prominin-Related|RP41
D015418||Optic Atrophies, Hereditary|Atrophies, Hereditary Optic|Atrophy, Hereditary Optic|Hereditary Optic Atrophies|Hereditary Optic Atrophy|Optic Atrophy, Hereditary
D057178||Primary Progressive Nonfluent Aphasia|Aphasia, Progressive Nonfluent|Aphasias, Progressive Nonfluent|Nonfluent Aphasia, Progressive|Nonfluent Aphasias, Progressive|Non fluent Primary Progressive Aphasia|Non-fluent Primary Progressive Aphasia|PPA Syndrome|PPA Syndromes|Progressive Nonfluent Aphasia|Progressive Nonfluent Aphasias|Syndrome, PPA|Syndromes, PPA
C566437|610131||Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4|PEOA4|Progressive External Ophthalmoplegia, Autosomal Dominant, 4
D057174||Frontotemporal Lobar Degeneration|Degeneration, Frontotemporal Lobar|Degenerations, Frontotemporal Lobar|Frontotemporal Lobar Degenerations|FTLD|FTLDs|Lobar Degeneration, Frontotemporal|Lobar Degenerations, Frontotemporal
C563924|608456||Colorectal Adenomatous Polyposis, Autosomal Recessive|Adenomas, Multiple Colorectal, Autosomal Recessive|COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE|FAMILIAL ADENOMATOUS POLYPOSIS, 2|FAP2
D015419||Spastic Paraplegia, Hereditary|Autosomal Dominant Hereditary Spastic Paraplegia|Autosomal Dominant Spastic Paraplegia Hereditary|Autosomal Recessive Hereditary Spastic Paraplegia|Autosomal Recessive Spastic Paraplegia, Hereditary|Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant|Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant|CMT with Pyramidal Features|Hereditary Autosomal Dominant Spastic Paraplegia|Hereditary Autosomal Recessive Spastic Paraplegia|Hereditary Motor and Sensory Neuropathy 5|Hereditary Motor And Sensory Neuropathy V|Hereditary Motor Sensory Neuropathy with Pyramidal Signs|Hereditary Motor-Sensory Neuropathy with Pyramidal Signs|Hereditary Spastic Paraplegia|Hereditary, Spastic Paraplegia, Autosomal Dominant|Hereditary Spastic Paraplegia, Autosomal Recessive|Hereditary Spastic Paraplegias|Hereditary, Spastic Paraplegia, X-Linked Recessive|Hereditary X Linked Recessive Spastic Paraplegia|Hereditary X-Linked Recessive Spastic Paraplegia|HMSN 5|HMSN Type V|HMSN V|HMSN V (Hereditary Motor and Sensory Neuropathy Type V)|Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia|Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia|Paraplegia, Hereditary Spastic|Paraplegias, Hereditary Spastic|Paraplegia, Spastic, Hereditary|Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant|Spastic Paraplegia 2|Spastic Paraplegia, Autosomal Dominant, Hereditary|Spastic Paraplegia, Autosomal Recessive, Hereditary|Spastic Paraplegia, Hereditary, Autosomal Dominant|Spastic Paraplegia, Hereditary, Autosomal Recessive|Spastic Paraplegia, Hereditary, X-Linked Recessive|Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy|Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy|Spastic Paraplegias, Hereditary|Spastic Paraplegia Type 2|Spastic Paraplegia, X-Linked Recessive, Hereditary|Type V Hereditary Motor and Sensory Neuropathy|Type V, HMSN|X-linked Recessive Hereditary Spastic Paraplegia|X Linked Recessive Hereditary Spastic Paraplegia|X-Linked, Spastic Paraplegia, Hereditary
D057177||TDP-43 Proteinopathies|Proteinopathies, TDP-43|Proteinopathy, TDP-43|TDP 43 Proteinopathies|TDP-43 Proteinopathy
D013398|272120||Sudden Infant Death|Cot Death|Cot Deaths|Crib Death|Death, Cot|Death, Crib|Death, Sudden Infant|Infant Death, Sudden|SID|SIDS|Sudden Infant Death Syndrome
C566333|613693||Long Qt Syndrome 6|LONG QT SYNDROME 3/6, DIGENIC, INCLUDED;LQT3/6, DIGENIC, INCLUDED|LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT6
D003449||Cryoglobulinemia|Cryoglobulinemias
D004775||Enuresis
D004774||Entropion|Entropions
D003444||Crush Syndrome|Crush Syndromes|Syndrome, Crush|Syndromes, Crush
D002114||Calcinosis|Calcification, Pathologic|Calcinoses|Calcinoses, Tumoral|Calcinosis, Tumoral|Pathologic Calcification|Tumoral Calcinoses|Tumoral Calcinosis
D002115||Calciphylaxis|Calciphylaxes|Calciphylaxis, Idiopathic|Idiopathic Calciphylaxis
611038|C567025||Microphthalmia, Isolated 3|MCOP3
C567037|604559||Progressive Familial Heart Block, Type Ib|PFHB1B|PFHBIB
D003440||Croup|Croup, Postintubation|Croup, Spasmodic|Croup, Viral|Postintubation Croup|Spasmodic Croup|Viral Croup
D015428||Myocardial Reperfusion Injury|Injuries, Myocardial Reperfusion|Injury, Myocardial Reperfusion|Myocardial Ischemic Reperfusion Injury|Myocardial Reperfusion Injuries|Reperfusion Injuries, Myocardial|Reperfusion Injury, Myocardial
D015427||Reperfusion Injury|Damage, Reperfusion|Damages, Reperfusion|Injuries, Ischemia-Reperfusion|Injuries, Reperfusion|Injury, Ischemia Reperfusion|Injury, Ischemia-Reperfusion|Injury, Reperfusion|Ischemia-Reperfusion Injuries|Ischemia Reperfusion Injury|Ischemia-Reperfusion Injury|Reperfusion Damage|Reperfusion Damages|Reperfusion Injuries
C565323|605544||Fibromatosis, Gingival, 2|Fibromatosis, Gingival, Hereditary, 2|GGF2|GINGF2|HGF2
D016757||Death, Sudden, Cardiac|Arrest, Sudden Cardiac|Cardiac Arrests, Sudden|Cardiac Arrest, Sudden|Cardiac Death, Sudden|Cardiac Sudden Death|Death, Cardiac Sudden|Death, Sudden Cardiac|Sudden Cardiac Arrest|Sudden Cardiac Death|Sudden Death, Cardiac
D007566|237500||Jaundice, Chronic Idiopathic|Chronic Idiopathic Jaundice|Chronic Idiopathic Jaundices|DJS|Dubin Johnson Syndrome|Dubin-Johnson Syndrome|HBLRDJ|Hyperbilirubinemia 2|Hyperbilirubinemia 2s|HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE|Hyperbilirubinemia II|Hyperbilirubinemia IIs|Idiopathic Jaundice, Chronic|Idiopathic Jaundices, Chronic|Jaundices, Chronic Idiopathic|Syndrome, Dubin-Johnson
C573898||Triphalangeal Thumb
D015423||Scleritis|Episcleritides|Episcleritis|Necrotizing Scleritides|Necrotizing Scleritis|Scleritides|Scleritides, Necrotizing|Scleritis, Necrotizing
D016751||Hepatitis E|Enterically Transmitted Non A, Non B Hepatitis|Enterically-Transmitted Non-A, Non-B Hepatitis|Epidemic Non A, Non B Hepatitis|Epidemic Non-A, Non-B Hepatitis|ET-NANBH|Hepatitides, Water-Borne|Hepatitis, Viral, Non-A, Non-B, Enterically-Transmitted|Hepatitis, Water Borne|Hepatitis, Water-Borne|Water-Borne Hepatitides|Water-Borne Hepatitis
D015422||Scleral Diseases|Disease, Sclera|Disease, Scleral|Diseases, Sclera|Diseases, Scleral|Sclera Disease|Sclera Diseases|Scleral Disease
D004749||Entamoebiasis|Entamoebiases
C567043|610965||XFE Progeroid Syndrome|XPF-ERCC1 Progeroid Syndrome
C536612|125630||Familial dermographism|DDU|Dermatographism, Familial|Dermo-distortive urticaria|Dermodistortive Urticaria|Dermographism, Familial|Familial dermatographism
C566977|611274||Glaucoma 1, Open Angle, N|GLC1N
C566874|603516||Spinocerebellar Ataxia 10|Sca10
612862||PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO|CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO
D016724||Empyema, Pleural|Empyemas, Pleural|Empyemas, Thoracic|Empyema, Thoracic|Pleural Empyema|Pleural Empyemas|Pyothorax|Thoracic Empyema|Thoracic Empyemas
D016726||Plasma Cell Granuloma, Pulmonary|Granuloma, Plasma Cell, Pulmonary|Inflammatory Pseudotumor of Lung|Inflammatory Pseudotumor, Pulmonary|Inflammatory Pseudotumors, Pulmonary|Inflammatory Pulmonary Pseudotumor|Inflammatory Pulmonary Pseudotumors|Plasma Cell Granuloma of Lung|Pseudotumor, Inflammatory, Pulmonary|Pseudotumor, Pulmonary Inflammatory|Pulmonary Granuloma, Plasma Cell|Pulmonary Inflammatory Pseudotumor|Pulmonary Inflammatory Pseudotumors|Pulmonary Plasma Cell Granuloma|Pulmonary Pseudotumor, Inflammatory|Pulmonary Pseudotumors, Inflammatory
D016727||Orbital Pseudotumor|Granuloma, Plasma Cell, Orbital|Inflammatory Pseudotumor of Orbit|Inflammatory Pseudotumor, Orbital|Inflammatory Pseudotumors, Orbital|Orbital Granuloma, Plasma Cell|Orbital Inflammatory Pseudotumor|Orbital Inflammatory Pseudotumors|Orbital Pseudotumors|Plasma Cell Granuloma, Orbital|Pseudotumor, Inflammatory, Orbital|Pseudotumor, Orbital|Pseudotumor, Orbital Inflammatory|Pseudotumors, Orbital
D016720||Pneumocystis Infections|Infection, Pneumocystis|Infections, Pneumocystis|Pneumocystis carinii Infection|Pneumocystis carinii Infections|Pneumocystis Infection
C567677|613268||Corneal Dystrophy, Fuchs Endothelial, 4|CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FECD4
300705|C563140||Mental Retardation, X-Linked 17|MENTAL RETARDATION, X-LINKED 31|MRX17|MRX31
D004756||Enterobacteriaceae Infections|Enterobacteriaceae Infection|Enterobacterial Infection|Enterobacterial Infections|Infection, Enterobacteriaceae|Infection, Enterobacterial|Infections, Enterobacteriaceae|Infections, Enterobacterial
D053609||Lethargy
D003428||Cross Infection|Cross Infections|Hospital Infection|Hospital Infections|Infection, Cross|Infection, Hospital|Infection, Nosocomial|Infections, Cross|Infections, Hospital|Infections, Nosocomial|Nosocomial Infection|Nosocomial Infections
D053608||Stupor|Narcosis
D004753||Enteritis, Transmissible, of Turkeys|Bluecomb of Turkeys|Transmissible Enteritis of Turkeys
C563663|610798||Immunodeficiency due to Defect in MAPBP-Interacting Protein
D003424||Crohn Disease|Colitis, Granulomatous|Crohn&apos;s Disease|Crohns Disease|Crohn&apos;s Enteritis|Enteritis, Granulomatous|Enteritis, Regional|Granulomatous Colitis|Granulomatous Enteritis|Ileitis, Regional|Ileitis, Terminal|Ileocolitis|Inflammatory Bowel Disease 1|Regional Enteritis|Regional Ileitides|Regional Ileitis|Terminal Ileitis
D004751||Enteritis|Enteritides
D003420||Crisscross Heart|Criss cross Heart|Criss-cross Heart|Criss-cross Hearts|Crisscross Hearts|Heart, Crisscross|Heart, Criss-cross|Hearts, Crisscross|Hearts, Criss-cross
612852||OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS|DIRA|INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY|OMPP
C563435|600881||Cataract, Congenital Zonular, with Sutural Opacities|CATARACT 10, MULTIPLE TYPES|CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES|CCZS|CTRCT10
D016736||Antiphospholipid Syndrome|Antibody Syndrome, Antiphospholipid|Antibody Syndrome, Anti-Phospholipid|Antiphospholipid Antibody Syndrome|Anti Phospholipid Antibody Syndrome|Anti-Phospholipid Antibody Syndrome|Antiphospholipid Antibody Syndromes|Anti Phospholipid Syndrome|Anti-Phospholipid Syndrome|Syndrome, Antiphospholipid|Syndrome, Anti-Phospholipid|Syndrome, Antiphospholipid Antibody|Syndrome, Anti-Phospholipid Antibody
D015408||Gastrinoma|Gastrinomas|Gastrin Producing Tumor|Gastrin-Producing Tumor|Gastrin-Producing Tumors|Islet Cell Tumor, Ulcerogenic|Tumor, Gastrin-Producing|Tumors, Gastrin-Producing|Ulcerogenic Islet Cell Tumor
D016731||Erythema Infectiosum|Fifth Disease
C567706|613211||Amelogenesis Imperfecta, Hypomaturation Type, Iia3|Ai2a3
C535571||Cantu Sanchez-Corona Fragoso syndrome|Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation
C566856|613697||Cardiomyopathy, Dilated, 1V|CMD1V
C535570||Acalvaria
159000|C535906||Muscular dystrophy, limb-girdle, type 1A|LGMD1|LGMD1A|Muscular Dystrophy, Limb-Girdle, Type1A|Muscular dystrophy, proximal, type 1A
C535573||Capillary leak syndrome with monoclonal gammopathy|Periodic systemic capillary leak syndrome
C535572||Cantu syndrome|Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome|Hypertrichotic osteochondrodysplasia
C535574||Carbamoyl phosphate synthase 1 deficiency
202200|C565974||Familial Glucocorticoid Deficiency 1|ACTH Resistance|Adrenal Unresponsiveness to ACTH|FAMILIAL GLUCOCORTICOID DEFICIENCY 1|FGD1|GCCD1|Glucocorticoid Deficiency 1
C536181|300291||Ectodermal dysplasia, hypohidrotic, with immune deficiency|Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency|EDA-ID, INCLUDED|HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED|HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA, INCLUDED|XHM-ED, INCLUDED
D016706||Still&apos;s Disease, Adult-Onset|Adult Onset Still Disease|Adult-Onset Still Disease|Adult Onset Still&apos;s Disease|Adult-Onset Still&apos;s Disease|Adult-Onset Stills Disease|Still Disease, Adult Onset|Still Disease, Adult-Onset|Still&apos;s Disease, Adult Onset|Stills Disease, Adult-Onset
C565249|606217||Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome|ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2;AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME,|INCLUDED
C536898||Thrombocytopenia Robin sequence|Braddock Carey syndrome
C535566||Absent corpus callosum cataract immunodeficiency|Vici syndrome
C536899||Thrombocytopenia, cyclic
C535565||Absent breasts and nipples|Athelia|Complete absence of breasts
C536896||Tamari Goodman syndrome|Congenital heart disease radio ulnar synostos mental retardation|Upper limb cardiovascular syndromes
C536897||Tang Hsi Ryu syndrome|Ascitis, splenomegaly, lymphadenopathy|Polyneuropathy hepatosplenomegaly hyperpigmentation|Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly
C535567||Absent duct of Santorini|Absent accessory pancreatic duct of Santorini
D010520|170650||Aggressive Periodontitis|Circumpubertal Periodontitis|Early-Onset Periodontitis|JP|JPD|Juvenile Periodontitis|Periodontitis, Aggressive|Periodontitis, Aggressive, 1|Periodontitis, Circumpubertal|Periodontitis, Juvenile|Periodontitis, Prepubertal|Periodontoses|Periodontosis|PPP|Prepubertal Periodontitis
C563475|167400||Paroxysmal Extreme Pain Disorder|Familial Rectal Pain|PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING|Pain, Submandibular, Ocular, wnd Rectal, with Flushing|PEPD|PEXPD|Rectal Pain, Familial|Submandibular, Ocular, and Rectal Pain with Flushing
C535569||Abuse dwarfism syndrome|Child abuse dwarfism|Psychosocial dwarfism
C535580||Najjar syndrome|Cardiogenital syndrome|Genital Anomaly With Cardiomyopathy
C567651|613307||Deafness, Autosomal Recessive 79|DFNB79
D003409||Congenital Hypothyroidism|Cretinism|Cretinism, Endemic|Endemic Cretinism|Fetal Iodine Deficiency Disorder|Hypothyroidism, Congenital|Myxedema, Congenital
D053627||Asthenozoospermia
604117|C565826||Vohwinkel Syndrome, Variant Form|LORICRIN KERATODERMA|Mutilating Keratoderma with Ichthyosis|Vohwinkel Syndrome with Ichthyosis
C535582||Cardiomyopathy hypogonadism collagenoma syndrome|Cardiomyopathy-Hypogonadism-Collagenoma Syndrome
204200|D009472||Neuronal Ceroid-Lipofuscinoses|Adult Neuronal Ceroid Lipofuscinosis|Amaurotic Idiocy, Adult Type|Batten Disease|Batten Disease, Juvenile|Batten Diseases, Juvenile|Batten Mayou Disease|Batten-Mayou Disease|Batten Spielmeyer Vogt Disease|Batten-Spielmeyer-Vogt Disease|Cerebroretinal Degeneration, Juvenile|Cerebroretinal Degenerations, Juvenile|Ceroid-Lipofuscinoses, CLN3-Related Neuronal|Ceroid-Lipofuscinosis, CLN3-Related Neuronal|Ceroid Lipofuscinosis, Neuronal|Ceroid-Lipofuscinosis, Neuronal|Ceroid Lipofuscinosis, Neuronal, 3|Ceroid Lipofuscinosis, Neuronal 3, Juvenile|Ceroid Lipofuscinosis, Neuronal 4|Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive|Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant|Ceroid Lipofuscinosis, Neuronal, Parry Type|Ceroid Storage Disease|Ceroid Storage Diseases|CLN3|CLN3-Related Neuronal Ceroid-Lipofuscinoses|CLN3 Related Neuronal Ceroid Lipofuscinosis|CLN3-Related Neuronal Ceroid-Lipofuscinosis|CLN4A|CLN4As|CLN4B|CLN4Bs|Disease, Ceroid Storage|Disease, Juvenile Batten|Disease, Kuf&apos;s|Disease, Lipofuscin Storage|Diseases, Ceroid Storage|Diseases, Juvenile Batten|Diseases, Kuf&apos;s|Diseases, Lipofuscin Storage|Disease, Spielmeyer-Sjogren|Diseases, Spielmeyer-Sjogren|Diseases, Vogt-Spielmeyer|Disease, Vogt Spielmeyer|Disease, Vogt-Spielmeyer|Infantile Neuronal Ceroid Lipofuscinosis|Jansky Bielschowsky Disease|Jansky-Bielschowsky Disease|JNCL|Juvenile Batten Disease|Juvenile Batten Diseases|Juvenile Cerebroretinal Degeneration|Juvenile Cerebroretinal Degenerations|Juvenile Neuronal Ceroid Lipofuscinosis|Kuf Disease|Kuf&apos;s Disease|Kufs Disease|Kufs Disease, Autosomal Dominant|Kufs Disease Autosomal Recessive|Kufs Disease, Autosomal Recessive|Kuf&apos;s Diseases|Kufs Type Neuronal Ceroid Lipofuscinosis|Late-Infantile Neuronal Ceroid Lipofuscinosis|Lipofuscinosis, Neuronal Ceroid|Lipofuscin Storage Disease|Lipofuscin Storage Diseases|Neuronal Ceroid Lipofuscinoses|Neuronal Ceroid-Lipofuscinoses, CLN3-Related|Neuronal Ceroid Lipofuscinosis|Neuronal Ceroid-Lipofuscinosis|Neuronal Ceroid Lipofuscinosis, Adult|Neuronal Ceroid Lipofuscinosis, Adult Type|Neuronal Ceroid-Lipofuscinosis, CLN3-Related|Neuronal Ceroid Lipofuscinosis, Infantile|Neuronal Ceroid Lipofuscinosis, Juvenile|Neuronal Ceroid Lipofuscinosis Juvenile Type|Neuronal Ceroid Lipofuscinosis, Late Infantile|Neuronal Ceroid Lipofuscinosis, Late-Infantile|Santavuori Haltia Disease|Santavuori-Haltia Disease|Spielmeyer Disease, Vogt|Spielmeyer Sjogren Disease|Spielmeyer-Sjogren Disease|Spielmeyer-Sjogren Diseases|Spielmeyer Vogt Disease|Spielmeyer-Vogt Disease|Storage Disease, Ceroid|Storage Disease, Lipofuscin|Storage Diseases, Ceroid|Storage Diseases, Lipofuscin|Vogt Spielmeyer Disease|Vogt-Spielmeyer Disease|Vogt-Spielmeyer Diseases
C535584||Cardiomyopathy, infantile histiocytoid|Cardiomyopathy, Focal Lipid|Cardiomyopathy, Infantile Xanthomatous|Cardiomyopathy, Oncocytic|Foamy myocardial transformation of infancy|Focal lipid cardiomyopathy|Infantile xanthomatous cardiomyopathy|Oncocytic cardiomyopathy
C535586||Carnevale syndrome|Carnevale Krajewska Fischetto syndrome|Oculo-skeletal-abdominal syndrome|Ptosis of eyelids with diastasis recti and hip dysplasia
C535585||Carnevale Hernandez Castillo syndrome|Triphalyngeal thumbs and brachyectrodactyly
C566914|611571||Otosclerosis 4|OTSC4
C535577||Cardioauditory syndrome of Sanchez Cascos|Sanchez Cascos cardioauditory syndrome
D016710||Yin Deficiency|Deficiency, Yin|Hsu, Yin|Xu, Yin|Yin Deficiencies|Yin Hsu|Yinxu|Yin Xu
D016711||Yang Deficiency|Deficiency, Yang|Hsu, Yang|Xu, Yang|Yang Hsu|Yangxu|Yang Xu
C535578||Cardiocranial syndrome|Pfeiffer cardiocranial syndrome|Pfeiffer Singer Zschiesche syndrome|Pfeiffer syndrome 2|Pfeiffer-type cardiocranial syndrome
C565737|604901||North American Indian Childhood Cirrhosis|NAIC
C535591||Chromosome 1, monosomy 1p|Deletion 1p|Monosomy 1p
C535590||Carrington syndrome|Carrington&apos;s Disease|Carrington&apos;s pulmonary eosinophilia|Chronic eosinophilic pneumonia (CEP)|Chronic idiopathic eosinophilic pneumonia|Eosinophilic idiopathic chronic pneumopathy
C535593||Chromosome 1, monosomy 1p31 p22|Deletion 1p31 p22|Monosomy 1p31 p22
D054969||Primary Dysautonomias|Dysautonomia|Dysautonomia, Primary|Dysautonomias|Dysautonomias, Primary|Primary Dysautonomia
C567588|300778||Corneal Dystrophy, Lisch Epithelial|Band-Shaped And Whorled Microcystic Corneal Epithelial Dystrophy|LECD|Lisch Epithelial Corneal Dystrophy
C535592||Chromosome 1, monosomy 1p22 p13|Deletion 1p22 p13|Monosomy 1p22 p13
C535595||Chromosome 1, monosomy 1p34 p32|Deletion 1p34 p32|Monosomy 1p34 p32
D004701||Endocrine Gland Neoplasms|Cancer, Endocrine|Cancer, Endocrine Gland|Cancer of Endocrine Gland|Cancer of the Endocrine Gland|Cancers, Endocrine|Carcinoma, Endocrine Gland|Carcinoma of Endocrine Gland|Endocrine Cancer|Endocrine Cancers|Endocrine Gland Cancer|Endocrine Gland Carcinoma|Endocrine Gland Neoplasm|Neoplasm, Endocrine Gland|Neoplasms, Endocrine Gland
C535594||Chromosome 1, monosomy 1p32|Deletion 1p32|Monosomy 1p32
C535597||Craniotelencephalic dysplasia|Complex of anomalies involving the cranium and brain
C535596||Chromosome 1, monosomy 1q25 q32|Deletion 1q25 q32|Monosomy 1q25 q32
D004700||Endocrine System Diseases|Disease, Endocrine|Disease, Endocrine System|Diseases, Endocrine|Diseases, Endocrine System|Diseases of Endocrine System|Endocrine Disease|Endocrine Diseases|Endocrine System Disease|System Disease, Endocrine|System Diseases, Endocrine
C537465|300166||Microphthalmia, syndromic 2|ANOP2, FORMERLY|Cataracts, microphthalmia, radiculomegaly and septal heart defects|MAA2, FORMERLY|Marashi Gorlin syndrome|MCOPS2|Microphthalmia, cataracts, radiculomegaly, and septal heart defects|Oculo facio cardio dental syndrome|Oculofaciocardiodental syndrome|OFCD Syndrome
C535589||Carnitine palmitoyl transferase 2 deficiency|Carnitine Palmitoyltransferase 2 Deficiency|Carnitine palmitoyltransferase deficiency type 2|Carnitine Palmitoyltransferase Ii Deficiency|Cpt2 Deficiency|Cpt Ii Deficiency|Muscle form of carnitine palmitoyltransferase deficiency
182000|D017492||Keratosis, Seborrheic|Keratoses, Seborrheic|Keratosis Seborrheica|Seborrheic Keratoses|Seborrheic Keratosis
D004716||Endometritis|Endomyometritis
C567554|612841||Hypotrichosis 5|HYPT5|Marie Unna Hereditary Hypotrichosis 2|MUHH2
D004719||Endomyocardial Fibrosis|Endomyocardial Fibroses|Fibroses, Endomyocardial|Fibrosis, Endomyocardial
D004714||Endometrial Hyperplasia|Atypical Endometrial Hyperplasia|Atypical Endometrial Hyperplasias|Complex Endometrial Hyperplasia|Complex Endometrial Hyperplasias|Endometrial Hyperplasia, Atypical|Endometrial Hyperplasia, Complex|Endometrial Hyperplasias|Endometrial Hyperplasias, Atypical|Endometrial Hyperplasias, Complex|Endometrial Hyperplasia, Simple|Endometrial Hyperplasias, Simple|Hyperplasia, Atypical Endometrial|Hyperplasia, Complex Endometrial|Hyperplasia, Endometrial|Hyperplasias, Atypical Endometrial|Hyperplasias, Complex Endometrial|Hyperplasias, Endometrial|Hyperplasia, Simple Endometrial|Hyperplasias, Simple Endometrial|Simple Endometrial Hyperplasia|Simple Endometrial Hyperplasias
201300||NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA|ACROOSTEOLYSIS, GIACCAI TYPE|ACROOSTEOLYSIS, NEUROGENIC|HSAN2A|HSAN IIA|HSN2A|HSN IIA|MORVAN DISEASE|NEUROPATHY, CONGENITAL SENSORY|NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE|NEUROPATHY, HEREDITARY SENSORY, TYPE IIA|NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN
D054970||Pure Autonomic Failure|Autonomic Failure, Pure|Bradbury Eggleston Syndrome|Bradbury-Eggleston Syndrome|Syndrome, Bradbury-Eggleston
C566239|108800||Atrial Septal Defect 1|ASD1|ASD II, INCLUDED|ASD I, INCLUDED|ATRIAL SEPTAL DEFECT, PRIMUM TYPE, INCLUDED|ATRIAL SEPTAL DEFECT, SECUNDUM TYPE, INCLUDED
D019851|188050||Thrombophilia|Hypercoagulabilities|Hypercoagulability|THPH1|THROMBOPHILIA DUE TO FACTOR 2 DEFECT|THROMBOPHILIA DUE TO THROMBIN DEFECT|Thrombophilias|VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST, INCLUDED|VENOUS THROMBOSIS
D054973||Perivascular Epithelioid Cell Neoplasms|CCMMT|Clear-Cell Myomelanocytic Tumor|Clear Cell Myomelanocytic Tumors|Clear-Cell Myomelanocytic Tumors|Clear-Cell Sugar Tumor|Clear Cell Sugar Tumors|Clear-Cell Sugar Tumors|Myomelanocytic Tumor, Clear-Cell|Myomelanocytic Tumors, Clear-Cell|Neoplasms, Perivascular Epithelioid Cell|PEComa|PEComas|Perivascular Epithelioid Cell Tumors|Sugar Tumor, Clear-Cell|Sugar Tumors, Clear-Cell|Tumor, Clear-Cell Myomelanocytic|Tumor, Clear-Cell Sugar|Tumors, Clear-Cell Myomelanocytic|Tumors, Clear-Cell Sugar
C537734|164280||Oculodigitoesophagoduodenal syndrome|Brunner Winter syndrome|Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum|Feingold syndrome|FEINGOLD SYNDROME 1|FGLDS1|Microcephaly and Digital Abnormalities with Normal Intelligence|Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome|Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome|Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome|Microcephaly-oculo-digito-esophageal-duodenal syndrome|MMT Syndrome|MODED|OCULODIGITOESOPHAGODUODENAL SYNDROME|Oculo-Digito-Esophagoduodental (ODED) Syndrome|ODED|ODED Syndrome
D054972||Postural Orthostatic Tachycardia Syndrome|Postural Tachycardia Syndrome|Syndrome, Postural Tachycardia|Tachycardia Syndrome, Postural
C564099||Mental Retardation with Spastic Paraplegia
238600||HYPERLIPOPROTEINEMIA, TYPE I LIPOPROTEIN LIPASE DEFICIENCY|LPL DEFICIENCY|HYPERCHYLOMICRONEMIA, FAMILIAL|HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE|HYPERLIPEMIA, ESSENTIAL FAMILIAL|LIPASE D DEFICIENCY|LIPD DEFICIENCY|HYPERLIPOPROTEINEMIA, TYPE IA|CHYLOMICRONEMIA, FAMILIAL
C535530||Interferon gamma, receptor 1, deficiency
C576084||Bleeding Disorder Due To P2rx1 Defect
C538361|267500||Reticular dysgenesis|Aleukocytosis|Congenital aleukia|DeVaal disease|De Vaal Disease|Hematopoietic Hypoplasia, Generalized|Immunoerythromyeloid Hypoplasia|Reticular dysgenesia|Severe combined immunodeficiency with leukopenia
C536970|314300||Torticollis keloids cryptorchidism renal dysplasia|Goeminne syndrome|TKC|TKCR|TKCR SYNDROME|Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia
C537404|262400||Pituitary dwarfism 1|Growth hormone deficiency, isolated, autosomal recessive|IGHD1A|IGHD IA|ILLIG-TYPE GROWTH HORMONE DEFICIENCY|Isolated growth hormone deficiency, type 1b|Isolated Growth Hormone Deficiency, Type IA|Nanism due to growth hormone isolated deficiency|Pituitary Dwarfism I|PRIMORDIAL DWARFISM|Sexual ateleiotic dwarfism
D012779|263520||Short Rib-Polydactyly Syndrome|Majewski Syndrome|Polydactyly with Neonatal Chondrodystrophy, Type 1|Polydactyly with Neonatal Chondrodystrophy, Type 2|Polydactyly With Neonatal Chondrodystrophy, Type I|Polydactyly With Neonatal Chondrodystrophy, Type II|Saldino Noonan Syndrome|Saldino-Noonan Syndrome|Short Rib Polydactyly Syndrome|Short Rib Polydactyly Syndrome, Majewski Type|Short Rib-Polydactyly Syndrome, Majewski Type|Short Rib-Polydactyly Syndromes|Short Rib Polydactyly Syndrome, Saldino Noonan Type|Short Rib-Polydactyly Syndrome, Saldino-Noonan Type|Short Rib Polydactyly Syndrome Type 1|Short Rib-Polydactyly Syndrome Type 1|Short Rib Polydactyly Syndrome, Type I|Short Rib-Polydactyly Syndrome, Type I|Short Rib Polydactyly Syndrome, Type II|Short Rib-Polydactyly Syndrome, Type II|SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA|SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY|SRPS2A|SRPS, TYPE II|SRTD6|Syndrome, Majewski|Syndrome, Saldino-Noonan|Syndrome, Short Rib-Polydactyly
C536855||Fanconi like syndrome|Fanconi-Like Syndrome
D053653||Pyelocystitis|Cystopyelitis
C536852||Familial streblodactyly|Crooked little finger, familial|Minor streblomicrodactyly, familial
C535524||Infantile polymyoclonus|Polymyoclonus, infantile
C535523||Infantile onset spinocerebellar ataxia|Infantile-Onset Spinocerebellar Ataxia|OHAHA Syndrome|Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|Spinocerebellar ataxia infantile with sensory neuropathy|Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy
C535526||Infection with Mycobacterium marinum|Fish tank granuloma|Mycobacterium marinum Infection
D054989||Nephrogenic Fibrosing Dermopathy|Dermopathies, Nephrogenic Fibrosing|Dermopathy, Nephrogenic Fibrosing|Fibroses, Nephrogenic Systemic|Fibrosing Dermopathies, Nephrogenic|Fibrosing Dermopathy, Nephrogenic|Fibrosis, Nephrogenic Systemic|Nephrogenic Fibrosing Dermopathies|Nephrogenic Systemic Fibroses|Nephrogenic Systemic Fibrosis|Systemic Fibroses, Nephrogenic|Systemic Fibrosis, Nephrogenic
C535525||N-Acetylneuraminic acid storage disease|Nana storage disease
D054988||Idiopathic Interstitial Pneumonias|Idiopathic Interstitial Pneumonia|Interstitial Pneumonia, Idiopathic|Interstitial Pneumonias, Idiopathic|Pneumonia, Idiopathic Interstitial|Pneumonias, Idiopathic Interstitial
C535528||Infundibulopelvic dysgenesis
605711||MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1|MMDS|MMDS1
C563888|608645||Deafness, Autosomal Dominant 31|DFNA31
C536873||Spastic paraplegia with Kallmann syndrome|Familial spastic paraplegia with Kallmann&apos;s syndrome|Kallmann syndrome with spastic paraplegia|Spastic Paraplegia-Kallmann Syndrome
C536870||Spastic paraplegia neuropathy poikiloderma|Familial spastic paraplegia with neuropathy and poikiloderma|Spastic Paraplegia With Neuropathy And Poikiloderma
C535542||Isotretinoin embryopathy like syndrome|Isotretinoin teratogen syndrome|Microtia aortic arch syndrome|Syndrome of microtia and aortic arch anomalies
D058747|214800||CHARGE Syndrome|Association, CHARGE|Associations, CHARGE|CHARGE Association|CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies|CHARGE Associations|CHARGE Syndrome, Familial|CHARGE Syndromes|CHARGE Syndromes, Familial|Familial CHARGE Syndrome|Familial CHARGE Syndromes|Hall Hittner Syndrome|Hall-Hittner Syndrome|HHS|Syndrome, CHARGE|Syndrome, Hall-Hittner
164160||LEPTIN|LEP OBESE, MOUSE, HOMOLOG OF|OB
214300|C536888||Klippel Feil syndrome recessive type|Cervical vertebral fusion, autosomal recessive|KFS2|Kfs, Autosomal Recessive|KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE|Klippel-Feil Syndrome, Autosomal Recessive
610297||PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO|PARK13
C536489|602083||Usher syndrome, type 1F|USH1F|USHER SYNDROME, TYPE IF
C548841||Parasitic infection caused by Dracunculus medinensis
C535533||Intrahepatic cholangiocarcinoma
C563020|105580||Anal Canal Carcinoma|CLOACOGENIC CARCINOMA, INCLUDED
C535534||Iridogoniodysgenesis and skeletal anomalies
C536869||Spastic paraplegia epilepsy mental retardation|Spastic Paraplegia, Epilepsy, And Mental Retardation
C535537||Iris dysplasia hypertelorism deafness
C565533|233690||Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative|CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE|CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b|Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Negative|Chronic Granulomatous Disease due to Deficiency of the Alpha Subunit of Cytochrome B|CYBA Deficiency
C535539||Irons Bhan syndrome|Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|Lymphedema, atrial septal defect, and characteristic facial changes
C564078||Pierre Robin Sequence with Facial and Digital Anomalies
300559|C564485||Glycogen Storage Disease, Type IXD|GSD9D|GSD IXD|Muscle Glycogenosis, X-Linked|Muscle Phosphorylase Kinase Deficiency
C536883||King Denborough syndrome|Anesthetic-induced malignant hyperpyrexia in children|King-Denborough Syndrome|King syndrome
C535551||Pemphigus and fogo selvagem|Brazilian pemphigus|Brazilian pemphigus foliaceus|Endemic pemphigus foliaceus|South American pemphigus
C536884||Kleeblattschaedel syndrome|Cloverleaf skull syndrome|Kleeblattschaedel-deformity syndrome
305100|D053358||Ectodermal Dysplasia 1, Anhidrotic|Anhidrotic Ectodermal Dysplasia, X Linked|Anhidrotic Ectodermal Dysplasia, X-Linked|Anhydrotic Ectodermal Dysplasia, X Linked|Anhydrotic Ectodermal Dysplasia, X-Linked|Christ Siemens Touraine Syndrome|Christ-Siemens-Touraine Syndrome|CST Syndrome|CST Syndromes|Dysplasia 1, Ectodermal|ECTD1|Ectodermal Dysplasia 1|Ectodermal Dysplasia 1, Anhydrotic|ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED|ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED|Ectodermal Dysplasia 1s|Ectodermal Dysplasia, Anhidrotic, X-Linked|ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1|Ectodermal Dysplasia, Hypohidrotic, X-Linked|Ectodermal Dysplasia, Hypohydridic, X-Linked|ED1|EDA|EDA1|HED1|Hypohidrotic Ectodermal Dysplasia|Syndrome, CST|Syndromes, CST|XHED|XLHED|X Linked Hypohydridic Ectodermal Dysplasia|X-Linked Hypohydridic Ectodermal Dysplasia
C535550||Pelviscapular dysplasia|Cousin Syndrome|Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature|Pelvic shoulder dysplasia
C536881||Spinal muscular atrophy, Ryukyuan type|Ryukyuan muscular atrophy
C535553||Abdominal cystic lymphangioma|Abdominal retroperitoneal lymphangioma|Retroperitoneal cystic lymphangioma
C535552||Abdominal chemodectomas with cutaneous angiolipomas|Chemodectoma, Intraabdominal, with Cutaneous Angiolipomas|Familial abdominal chemodectomas with cutaneous angiolipomas
C536582|203740||Alpha-ketoglutarate dehydrogenase deficiency|2 alpha ketoglutarate dehydrogenase deficiency|2-Ketoglutarate Dehydrogenase Deficiency|ALPHA-KGD DEFICIENCY|Oxoglutaricaciduria|Oxoglutaric Aciduria
C535750|608776||Congenital disorder of glycosylation type 1L|CDG1L|CDGIl|CDG Il|Congenital Disorder of Glycosylation, Type IL
D008268||Macular Degeneration|Age Related Macular Degeneration|Age-Related Macular Degeneration|Age-Related Macular Degenerations|Age Related Maculopathies|Age-Related Maculopathies|Age Related Maculopathy|Age-Related Maculopathy|Degeneration, Age-Related Macular|Degeneration, Macular|Degenerations, Age-Related Macular|Degenerations, Macular|Dystrophies, Macular|Dystrophy, Macular|Macular Degeneration, Age-Related|Macular Degenerations|Macular Degenerations, Age-Related|Macular Dystrophies|Macular Dystrophy|Maculopathies, Age Related|Maculopathies, Age-Related|Maculopathy, Age Related|Maculopathy, Age-Related
D008275||Magnesium Deficiency|Deficiencies, Magnesium|Deficiency, Magnesium|Magnesium Deficiencies
C567059|610755||Multiple Endocrine Neoplasia, Type IV|MEN4
C562618|612740||Porphyria, Acute Hepatic|ALAD Deficiency|Delta-Aminolevulinate Dehydratase Deficiency|Doss Porphyria|DOSS PORPHYRIA LEAD POISONING, SUSCEPTIBILITY TO, INCLUDED|Porphobilinogen Synthase Deficiency|PORPHYRIA, ALAD
114550|D006528||Carcinoma, Hepatocellular|Adult Liver Cancer|Adult Liver Cancers|Cancer, Adult Liver|CANCER, HEPATOCELLULAR|Cancers, Adult Liver|Carcinoma, Liver Cell|Carcinomas, Hepatocellular|Carcinomas, Liver Cell|Cell Carcinoma, Liver|Cell Carcinomas, Liver|HCC|HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION, INCLUDED|Hepatocellular Carcinoma|Hepatocellular Carcinomas|Hepatoma|HEPATOMA HEPATOBLASTOMA, INCLUDED|Hepatomas|LCC|LIVER CANCER|Liver Cancer, Adult|Liver Cancers, Adult|Liver Cell Carcinoma|Liver Cell Carcinoma, Adult|Liver Cell Carcinomas
D008271||Mycetoma|Actinomycetoma|Actinomycetomas|Eumycetoma|Eumycetomas|Foot, Madura|Madura Foot|Maduromycoses|Maduromycosis|Mycetomas
607371|C537704||Juvenile-onset dystonia|Dystonia, juvenile-onset
C536874||Spastic paraplegia with precocious puberty|Familial spastic paraplegia, mental retardation, and precocious puberty|Precocious puberty with spastic paraplegia
C562567|238320||Leydig Cell Hypoplasia|46,XY Disorder of Sex Development Due To LH Defects|Hypergonadotropic Hypogonadism, Male, Due To LHCGR Defect|HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT, INCLUDED|Leydig Cell Agenesis|LEYDIG CELL AGENESIS LEYDIG CELL HYPOPLASIA, TYPE II, INCLUDED|Leydig Cell Hypoplasia, Complete|Leydig Cell Hypoplasia, Partial|LEYDIG CELL HYPOPLASIA, PARTIAL, INCLUDED|Leydig Cell Hypoplasia, Type I|Leydig Cell Hypoplasia, Type II|Leydig Cell Hypoplasia with Male Pseudohermaphroditism|LH Resistance Due To LH Receptor Deactivation|Luteinizing Hormone Resistance, Female|LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED|Male Hypergonadotropic Hypogonadism Due To LHCGR Defect
146510|D054975||Pallister-Hall Syndrome|CAVE Complex|CAVE Complices|Cerebroacrovisceral Early Lethality Complex|Complex, CAVE|Complices, CAVE|Hall Pallister Syndrome|Hall-Pallister Syndrome|Hamartoblastoma Syndrome, Hypothalamic|Hamartoblastoma Syndromes, Hypothalamic|Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly|Hypothalamic Hamartoblastoma Syndrome|Hypothalamic Hamartoblastoma Syndromes|Pallister Hall Syndrome|PALLISTER-HALL SYNDROME 1|PHS|PHS1|Syndrome, Hall-Pallister|Syndrome, Hypothalamic Hamartoblastoma|Syndrome, Pallister-Hall|Syndromes, Hypothalamic Hamartoblastoma
C536875||Arrest of spermatogenesis|Azoospermia Due To Perturbations Of Meiosis|Azoospermia With Maturation Arrest|Spermatogenesis arrest
C535548||Pelvic dysplasia arthrogryposis of lower limbs|Pelvic hypoplasia with arthrogryposis of lower limbs|Pelvic hypoplasia with lower limb arthrogryposis|Pelvic Hypoplasia with Lower-Limb Arthrogryposis
C536878||Spinal intradural arachnoid cysts|Arachnoid cysts, spinal intradural
D010585||Phagocyte Bactericidal Dysfunction|Bactericidal Dysfunction, Phagocyte|Bactericidal Dysfunctions, Phagocyte|Dysfunction, Phagocyte Bactericidal|Dysfunctions, Phagocyte Bactericidal|Phagocyte Bactericidal Dysfunctions
C536879||Muscular atrophy, spinal, infantile chronic form|Muscular atrophy, spinal, intermediate type
C535549||Pelvic lipomatosis
C564084||Optic Atrophy Spastic Paraplegia Syndrome
C536890||Hemiplegic migraine, familial type 1|Migraine, Familial Hemiplegic, 1|Migraine, familial hemiplegic 1, with progressive cerebellar ataxia
C535520|137920||Renal cysts and diabetes syndrome|CAKUT WITH DIABETES|CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES|FJHN, ATYPICAL|Glomerulocystic kidney disease, hypoplastic type|Glomerulocystic kidney, familial hypoplastic|Hyperuricemic nephropathy, familial juvenile, atypical|Maturity-onset diabetes of the young, type 5|MODY5|RCAD
D021921|185500||Aortic Stenosis, Supravalvular|Aortic Supravalvular Stenoses|Aortic Supravalvular Stenosis|Stenoses, Aortic Supravalvular|Stenosis, Aortic Supravalvular|Stenosis, Supravalvular Aortic|Supravalvar Aortic Stenosis|SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE|Supravalvular Aortic Stenosis|Supravalvular Stenoses, Aortic|Supravalvular Stenosis, Aortic|SVAS
C564088||Nystagmus, Myoclonic
C536894||Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
C535562||Absence of septum pellucidum
C536895||Talonavicular coalition
C535561||Congenital absence of gluteal muscles
C536892||Kaplan Plauchu Fitch syndrome|Acrocraniofacial dysostosis
C535564||Absence of tibia with polydactyly|Polydactyly with absent tibia|Tibia, Absence of, with Polydactyly
C536893||Kaplowitz Bodurtha syndrome|Congenital hypopituitarism and microphthalmia|Hypopituitarism microphthalmia
C535932|147480||Intrahepatic Cholestasis of Pregnancy|Cholestasis, intrahepatic of pregnancy|Cholestasis, Intrahepatic, Of Pregnancy|CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1|Cholestasis, Pregnancy-Related|CHOLESTASIS, PREGNANCY-RELATED, 1|Familial intrahepatic cholestasis of pregnancy|Familial recurrent intrahepatic cholestasis of pregnancy|ICP1|Obstetric Cholestasis|Pregnancy related cholestasis|Pregnancy-Related Cholestasis|Recurrent intrahepatic cholestasis of pregnancy
C567234|612621||Mental Retardation, Autosomal Dominant 5|MRD5
C566394|603284||Cerebral Cavernous Malformations 2|CCM2
D008289||Malaria, Avian|Avian Malaria|Avian Malarias|Malarias, Avian
D008286||Malabsorption Syndromes|Malabsorption Syndrome|Syndrome, Malabsorption|Syndromes, Malabsorption
D008287||Malacoplakia|Malacoplakias|Malakoplakia|Malakoplakias
C564090||Neuropathy, Hereditary Sensory, X-Linked
D053682||Tendon Entrapment|Entrapments, Tendon|Entrapment, Tendon|Stenosing Tendovaginitides|Stenosing Tendovaginitis|Stenosing Tenosynovitides|Stenosing Tenosynovitis|Stenosing Tenovaginitides|Stenosing Tenovaginitis|Tendon Entrapments|Tendovaginitides, Stenosing|Tendovaginitis, Stenosing|Tenosynovitides, Stenosing|Tenosynovitis, Stenosing|Tenovaginitides, Stenosing|Tenovaginitis, Stenosing
C563838|608895||Macular Degeneration, Age-Related, 3|ARMD3
C535555||Aberrant subclavian artery|Aberrant left subclavian artery|Aberrant right subclavian artery
C536885||Kleiner Holmes syndrome|Hallux varus and preaxial polysyndactyly
C535557||Ablepharon macrostomia syndrome|Ablepharon-Macrostomia Syndrome
D053684||De Quervain Disease|De Quervain&apos;s Disease|De Quervains Disease|De Quervain Stenosing Tenosynovitis|Disease, De Quervain|Stenosing Tenosynovitis, De Quervain
D010591||Phantom Limb|Limb Pain, Phantom|Limb Pains, Phantom|Limb, Phantom|Limbs, Phantom|Pain, Phantom|Pain, Phantom Limb|Pains, Phantom|Pains, Phantom Limb|Phantom Limb Pain|Phantom Limb Pains|Phantom Limbs|Phantom Pain|Phantom Pains|Phantom Sensation|Phantom Sensations|Pseudomelia|Pseudomelias|Sensation, Phantom|Sensations, Phantom
C535559||Abruzzo Erickson syndrome|Abruzzo-Erickson Syndrome|Charge-Like Syndrome, X-Linked|CHARGE like syndrome, X linked
C564098||Modifier, X-Linked, for Neurofunctional Defects|Tourette Syndrome, Modifier of
C535558||Abrikosov&apos;s tumor|Abrikosoff&apos;s granulous cell tumor|Abrikosoff&apos;s tumor|Giant granulo-cellular Abrikosov&apos;s tumor|Malignant variant of Abrikosov&apos;s tumor
C564097||Muscular Dystrophy, Hemizygous Lethal Type
C536889||Weber Klippel Trenaunay
C564096||Muscular Dystrophy, Mabry Type
C537403|610954||Pitt-Hopkins syndrome|Encephalopathy, Severe Epileptic, With Autonomic Dysfunction|Mental Retardation, Syndromal, With Intermittent Hyperventilation|Pitt Hopkins syndrome|PTHS
190440||TRIGONOCEPHALY 1|CRANIOSYNOSTOSIS, METOPIC|TRIGNO1
C564095||Muscular Dystrophy, Progressive Pectorodorsal|Muscular Dystrophy, Progressive, Involving Shoulder Girdle and Back
C564058||Turner Syndrome-Associated Neurocognitive Phenotype
C564056||Split-Hand Foot Malformation 2|Split hand foot anomaly - X-linked|Split-Hand/Foot Deformity 2|Split-Hand/Foot Malformation 2|Split hand/foot malformation X-linked|Split-Hand/Split-Foot Anomaly, X-Linked
C565387||Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency
D015325|312170||Pyruvate Dehydrogenase Complex Deficiency Disease|Ataxia, Intermittent, with Abnormal Pyruvate Metabolism|ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY|Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency|Ataxia with Lactic Acidosis|Ataxia with Lactic Acidosis I|ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED|Ataxia with Lactic Acidosis, Type I|Deficiency, PDH|Deficiency, PDHC|Deficiency, Pyruvate Decarboxylase|Deficiency, Pyruvate Dehydrogenase|Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency|Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease|Lactic Acidosis with Ataxia, Type I|Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease|PDHAD|PDHC Deficiency|PDHC Deficiency Disease|PDH Deficiency|Pyruvate Decarboxylase Deficiency|Pyruvate Dehydrogenase Complex Deficiency|Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile|Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal|Pyruvate Dehydrogenase Deficiency|PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY|Type I Ataxia with Lactic Acidosis
C564697|606554||Episodic Ataxia, Type 3|Ataxia, Episodic, With Vertigo And Tinnitus|EA3
C565754|604717||Deafness, Autosomal Dominant 20|DFNA20|DFNA26
C536818||Giant mammary hamartoma|Giant hamartoma of the breast
C536819||Giant pigmented hairy nevus
C536817||Al-Gazali Syndrome
611091|C567018||Mental Retardation, Autosomal Recessive 5|MRT5
C565393||3-Methylglutaconic Aciduria Type IV|MGA4|MGA Type IV
C536810||Chromosome 3, monosomy 3q27|Deletion 3q27|Monosomy 3q27
C536811||Chromosome 3, trisomy 3p|Duplication 3p|Trisomy 3p
C565395||Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
C565396||Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
C535420|601382||Charcot-Marie-Tooth disease, Type 4B1|Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1|Charcot-Marie-Tooth disease, Type 4B|Charcot-Marie-Tooth Neuropathy, Type 4B1|CMT4B|CMT4B1
C536814||Distal arthrogryposis Moore Weaver type|Moore Weaver syndrome
C536859|270750||Spastic paraplegia 23|Abdallat Davis Farrage syndrome|Abdallat syndrome|Lison syndrome|Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies|Spastic paraplegia and pigmentary abnormalities|Spastic paraplegia, vitiligo, premature graying and characteristic facies|Spastic Paraplegia With Pigmentary Abnormalities|SPG23
C536812||Chromosome 3, trisomy 3p25|Duplication 3p25|Trisomy 3p25
C564063||Rett Syndrome, Preserved Speech Variant
D000326|300100||Adrenoleukodystrophy|ADDISON DISEASE AND CEREBRAL SCLEROSIS|Adrenoleukodystrophy, X-Linked|Adrenomyeloneuropathy|ALD|ALD (Adrenoleukodystrophy)|AMN, INCLUDED|BRONZE SCHILDER DISEASE|MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY, INCLUDED|Schilder Addison Complex|Schilder-Addison Complex|SIEMERLING-CREUTZFELDT DISEASE|X ALD|X-ALD|X ALD (X Linked Adrenoleukodystrophy)|X-ALD (X-Linked Adrenoleukodystrophy)|X Linked Adrenoleukodystrophy|X-Linked Adrenoleukodystrophy
C536813||Chromosome 3, trisomy 3q|Duplication 3q|Trisomy 3q
C567855|612940||Cutis Laxa, Autosomal Recessive, Type IIB|ARCL2B|Cutis Laxa With Progeroid Features
C564069||Mental Retardation, X-Linked, Syndromic, Ube2a-Related
C564066||Radiation Sensitivity of Natural Killer Activity|X-Ray NK Sensitivity
C565398||Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
C565399||Metaphyseal Chondrodysplasia, Pena Type
D010190|260350||Pancreatic Neoplasms|Cancer of Pancreas|Cancer of the Pancreas|Cancer, Pancreas|Cancer, Pancreatic|Cancers, Pancreas|Cancers, Pancreatic|Neoplasm, Pancreas|Neoplasm, Pancreatic|Neoplasms, Pancreas|Neoplasms, Pancreatic|Pancreas Cancer|Pancreas Cancers|Pancreas Neoplasm|Pancreas Neoplasms|PANCREATIC ACINAR CARCINOMA|Pancreatic Cancer|Pancreatic Cancers|PANCREATIC CANCER, SUSCEPTIBILITY TO, 1|PANCREATIC CANCER, SUSCEPTIBILITY TO, 2|PANCREATIC CANCER, SUSCEPTIBILITY TO, 3|PANCREATIC CARCINOMA|Pancreatic Neoplasm|PNCA1|PNCA2|PNCA3
C537340|312870||Simpson-Golabi-Behmel syndrome|Bulldog syndrome|DGSX|Dysplasia gigantism syndrome, X-linked|Golabi-Rosen syndrome|Mental Retardation-Overgrowth Syndrome|SDYS|SGBS|SGBS1|Simpson dysmorphia syndrome|Simpson Dysplasia Syndrome|Simpson-Golabi-Behmel Syndrome, Type 1|Simpson Syndrome
609261||STUTTERING, FAMILIAL PERSISTENT, 2|STUT2
C563865|608758||Cardiomyopathy, Familial Hypertrophic, 10|Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2|CMH10
611588||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4|LGMD2M|MDDGC4|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
310400||MYOPATHY, CENTRONUCLEAR, X-LINKED|CNMX|MTM1|MTMX|MYOTUBULAR MYOPATHY 1|MYOTUBULAR MYOPATHY, X-LINKED|XLMTM
D008260||Macroglossia|Macroglossias
610251||ALCOHOL SENSITIVITY, ACUTE|HANGOVER, SUSCEPTIBILITY TO, INCLUDED
C536821||Gigantomastia|Gestational gigantomastia|Gigantomastia, Juvenile|Hypertrophy of the Breast, Juvenile|Juvenile gigantomastia|Macromastia
276902||USHER SYNDROME, TYPE IIIA|USH3|USH3A|USHER SYNDROME, TYPE III
C564072||Multiple Pterygium Syndrome, X-Linked|Pterygium Syndrome, Multiple, X-Linked
C564071||Pyruvate Dehydrogenase E1 Alpha Deficiency|Lactic Acidemia, Thiamine Responsive
C536820||Giedion syndrome|Trichorhinophalangeal dysplasia 1|Trichorhinophalangeal Syndrome, Type I|Trichorhinophalangeal (TRP) syndrome 1
C536825||Glomerulonephritis sparse hair telangiectases|Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis|Glomerulonephritis With Sparse Hair And Telangiectases|Telangiectatic membranoproliferative glomerulonephritis
C564076||Properdin Deficiency, Type III
C564075||Properdin Deficiency, Type II
C536823||Glassy cell carcinoma of the cervix|Glassy cell adenocarcinoma of the uterine cervix
C537406|259450||Bruck syndrome 1|BRKS1|Osteogenesis imperfecta with congenital joint contractures
C564036||Mental Retardation, X-Linked 89
C564034||Hodgkin Disease, Y-Linked Pseudoautosomal
C564033||Incomplete Sertoli Cell-Only Syndrome
C562839|156240||Mesothelioma, Malignant|MESOM
C565365||Multiple Carboxylase Deficiency, Juvenile-Onset
C536840||Aplasia cutis congenita of limbs recessive|Aplasia Cutis Congenita of Limbs, Recessive|Congenital absence of skin on the upper or lower limbs|Recessive aplasia cutis congenita of the limbs
C565366||Mucus Inspissation of Respiratory Tract
C564038||Neuroacanthocytosis, Mcleod Type|McLeod Syndrome
C535499|608105||Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer&apos;s cramp|Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer&apos;s Cramp|EPRPDC|RE-PED-WC
C536025|154780||Marshall syndrome|Deafness, myopia, cataract, saddle nose-Marshall type|MRSHS
610239||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4|HDLCQ4
C535522|602066||Infantile convulsions and paroxysmal choreoathetosis, familial|CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS|Convulsions, infantile, with paroxysmal choreoathetosis, familial|ICCA|ICCA SYNDROME|INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL|PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS|PKD/IC
C535508||Ermine phenotype|Cutaneous albinism hermine phenotype|O&apos;Doherty syndrome|Pigmentary disorder with hearing loss
D001321|209850||Autistic Disorder|ASD, INCLUDED|Autism|Autism, Early Infantile|Autism, Infantile|AUTISM-RELATED SPEECH DELAY|Autisms|AUTISM SPECTRUM DISORDER, INCLUDED|AUTISM, SUSCEPTIBILITY TO, 10|AUTISM, SUSCEPTIBILITY TO, 11|AUTISM, SUSCEPTIBILITY TO, 12|AUTISM, SUSCEPTIBILITY TO, 13|AUTISM, SUSCEPTIBILITY TO, 14A, INCLUDED|AUTISM, SUSCEPTIBILITY TO, 15|AUTISM, SUSCEPTIBILITY TO, 16|AUTISM, SUSCEPTIBILITY TO, 17|AUTISM, SUSCEPTIBILITY TO, 3|AUTISM, SUSCEPTIBILITY TO, 5|AUTISM, SUSCEPTIBILITY TO, 6|AUTISM, SUSCEPTIBILITY TO, 7|AUTISM, SUSCEPTIBILITY TO, 8|AUTISM, SUSCEPTIBILITY TO, 9|AUTISM WITH OR WITHOUT SEIZURES|AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1, INCLUDED|AUTS10|AUTS11|AUTS12|AUTS13|AUTS14A, INCLUDED|AUTS15|AUTS16|AUTS17|AUTS1, INCLUDED|AUTS2, FORMERLY|AUTS3|AUTS4, INCLUDED|AUTS5|AUTS6|AUTS7|AUTS8|AUTS9|CHROMOSOME 15q11.2 DUPLICATION SYNDROME, INCLUDED|CHROMOSOME 15q11-q13 DUPLICATION SYNDROME|CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB|Disorder, Autistic|Disorders, Autistic|DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4, INCLUDED|Early Infantile Autism|Infantile Autism|Infantile Autism, Early|Kanner&apos;s Syndrome|Kanners Syndrome|Kanner Syndrome|PHRASE SPEECH DELAY, AUTISM-RELATED|Syndrome, Kanner&apos;s
D008231||Lymphopenia|Lymphocytopenia|Lymphocytopenias|Lymphopenias
C536839||Cardiac form of generalized glycogenosis|Cardiomegalia glycogenica diffusa|Glycogenosis, Generalized, Cardiac Form
C535509||Erythema elevatum diutinum|Extracellular cholesterosis|Leukocytoclastic vasculitis
D010547||Persistent Fetal Circulation Syndrome|ACDMPV|ACD MPV|ACD-MPV|Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins|Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies|Circulation, Persistent Fetal|Familial Persistent Pulmonary Hypertension of the Newborn|Fetal Circulation, Persistent|Hypertension, Pulmonary, of Newborn, Persistent|Misalignment of the Pulmonary Vessels|Persistent Fetal Circulation|Persistent Pulmonary Hypertension of Newborn|Pulmonary Hypertension, Familial Persistent, of the Newborn
D055728|254450||Primary Myelofibrosis|Agnogenic Myeloid Metaplasia|Agnogenic Myeloid Metaplasias|Bone Marrow Fibroses|Bone Marrow Fibrosis|Chronic Idiopathic Myelofibrosis|Fibroses, Bone Marrow|Fibrosis, Bone Marrow|Idiopathic Myelofibrosis|Metaplasia, Agnogenic Myeloid|Metaplasia, Myeloid|Metaplasias, Agnogenic Myeloid|Metaplasias, Myeloid|MMM, INCLUDED|Myelofibroses|Myelofibroses, Primary|Myelofibrosis|Myelofibrosis, Primary|Myelofibrosis With Myeloid Metaplasia|MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED|Myeloid Metaplasia|Myeloid Metaplasia, Agnogenic|Myeloid Metaplasias|Myeloid Metaplasias, Agnogenic|Myeloscleroses|Myelosclerosis|Myeloses, Nonleukemic|Myelosis, Nonleukemic|Nonleukemic Myeloses|Nonleukemic Myelosis|Primary Myelofibroses
C567123|225250||Hypothyroidism, Congenital, Nongoitrous, 5|CHNG5
D008230||Lymphomatoid Granulomatosis|Granulomatoses, Lymphomatoid|Granulomatosis, Lymphomatoid|Lymphomatoid Granulomatoses
C567356|612293||Porokeratosis, Disseminated Superficial Actinic, 3|DSAP3|POROK5|POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE|POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 3
C565371||Monocyte Chemotactic Disorder
300578|C564481||Chromosome Xp11.3 Deletion Syndrome|Mental Retardation, X-Linked, With Retinitis Pigmentosa
C565372||Molybdenum Cofactor Deficiency, Complementation Group A
C565373||Molybdenum Cofactor Deficiency, Complementation Group B
C565374||Molybdenum Cofactor Deficiency, Complementation Group C
C564603|607236||Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration|Harp Syndrome
C536831||Glucose-6-phosphate translocase deficiency
C536837||Glyceraldehyde-3-phosphate dehydrogenase deficiency
C564042||Vesicoureteral Reflux, X-Linked
C536834||Glutaric aciduria 2|Glutaric acidemia 2 A
C564041||Von Willebrand Disease, X-Linked Form
C565370||Monosomy 7 of Bone Marrow|Myelodysplasia and Leukemia Syndrome with Monosomy 7
C564040||Widow&apos;s Peak Syndrome|Widow&apos;s Peak, Ptosis, and Skeletal Anomalies
C565379||Microcephaly with Chorioretinopathy, Autosomal Recessive
D016481|600263||Helicobacter Infections|Helicobacter Infection|HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO|Infection, Helicobacter|Infections, Helicobacter
C565376||Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport
C536851||Familial renal cell carcinoma|Familial renal carcinoma
D007888|256000||Leigh Disease|Disease, Leigh&apos;s|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necrotizing|Encephalopathy, Subacute Necrotizing, Infantile|Encephalopathy, Subacute Necrotizing, Juvenile|Infantile Leigh Disease|Infantile Subacute Necrotizing Encephalopathy|Juvenile Leigh Disease|Juvenile Subacute Necrotizing Encephalopathy|Leigh Disease, Infantile|Leigh Disease, Juvenile|Leigh&apos;s Disease|Leighs Disease|Leigh Syndrome|LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED|LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED|LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED|LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED|LS|Necrotizing Encephalomyelitides, Subacute|Necrotizing Encephalomyelitis, Subacute|Necrotizing Encephalomyelopathies, Subacute|Necrotizing Encephalomyelopathy, Subacute|Necrotizing Encephalopathies, Subacute|NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH;SNE LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED|Necrotizing Encephalopathy, Subacute|Subacute Necrotizing Encephalomyelitides|Subacute Necrotizing Encephalomyelitis|Subacute Necrotizing Encephalomyelitis, Infantile|Subacute Necrotizing Encephalomyelopathies|Subacute Necrotizing Encephalomyelopathy|Subacute Necrotizing Encephalopathies|Subacute Necrotizing Encephalopathy|Subacute Necrotizing Encephalopathy, Infantile|Subacute Necrotizing Encephalopathy, Juvenile
C564049||Thyroxine-Binding Globulin Deficiency
C565378||Microphthalmia, Isolated, with Coloboma 4|MCOPCB4|Microphthalmia With Colobomatous Cyst
C536561|602079||Trimethylaminuria|Fish malodor syndrome|Fish odor syndrome|Fish-Odor Syndrome|Stale Fish Syndrome|TMAU|TMAuria
241550|D018636||Hypoplastic Left Heart Syndrome|HLHS|HLHS1|HYPOPLASTIC LEFT HEART SYNDROME 1|Left Heart Hypoplasia Syndrome|Left Heart Syndrome, Hypoplastic
C564254|608354||Capillary Malformation-Arteriovenous Malformation|Capillary Malformation-Arteriovenous Malformation Syndrome|Capillary Malformation Without Arteriovenous Malformation|CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED|Cm-Avm|CMAVM
D011885||Radius Fractures|Fracture, Radius|Fractures, Radius|Radius Fracture
D010554||Personality Disorders|As If Personality|Avoidant Personality Disorder|Avoidant Personality Disorders|Impulse Ridden Personality|Impulse-Ridden Personality|Inadequate Personality|Narcissistic Personality Disorder|Personality, As If|Personality Disorder|Personality Disorder, Avoidant|Personality Disorder, Narcissistic|Personality Disorders, Avoidant|Personality, Impulse-Ridden|Personality, Inadequate
C535519||Reginato Schiapachasse syndrome
300400|D053632||X-Linked Combined Immunodeficiency Diseases|CIDX|Combined Immunodeficiency, X Linked|Combined Immunodeficiency, X-Linked|IMD4|IMD6|Immunodeficiency 4|Immunodeficiency 6|Immunodeficiency Diseases, X-Linked|Immunodeficiency Diseases, X Linked Combined|Immunodeficiency Diseases, X-Linked Combined|Immunodeficiency Disease, X-Linked|Immunodeficiency Syndromes, X-Linked|Immunodeficiency Syndrome, X-Linked|Immunodeficiency, X-Linked Combined|SCIDs, X-Linked|SCIDX|SCIDX1|SCID, X Linked|SCID, X-Linked|Severe Combined Immunodeficiency, X Linked|Severe Combined Immunodeficiency, X-Linked|Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative|Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, NK Cell-Negative|Syndromes, X-Linked Immunodeficiency|XCID|X-Linked Combined Immunodeficiencies|X Linked Combined Immunodeficiency|X-Linked Combined Immunodeficiency|X Linked Combined Immunodeficiency Diseases|X Linked Immunodeficiency Disease|X-Linked Immunodeficiency Disease|X-Linked Immunodeficiency Diseases|X Linked Immunodeficiency Syndrome|X-Linked Immunodeficiency Syndrome|X-Linked Immunodeficiency Syndromes|X Linked SCID|X-Linked SCID|X-Linked SCIDs|X Linked Severe Combined Immunodeficiency|X-Linked Severe Combined Immunodeficiency|XSCID|X-SCID
C536849||Familial neurocardiogenic syncope|Familial vasovagal syncope|Syncope, familial neurocardiogenic|Syncope, familial vasovagal
C535331|305400||Aarskog Syndrome|Aarskog Disease|Aarskog-Like Syndrome|Aarskog-Scott Syndrome|AARSKOG SYNDROME, X-LINKED FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED|AAS|Facio-Digito-Genital Dysplasia|Faciodigitogenital Syndrome|Faciodigitogenital Syndrome, Recessive|Faciogenital Dysplasia|FGDY|Kuwait Type Faciodigitogenital Syndrome|MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED|MRXS16, INCLUDED|Scott Aarskog Syndrome
D047808||Adrenogenital Syndrome|Adrenogenital Syndromes|Syndrome, Adrenogenital|Syndromes, Adrenogenital
C565382||Microcephaly-Micromelia Syndrome
C535511||Erythema nodosum, idiopathic|Erythema nodosum of unknown etiology|Idiopathic erythema nodosum
C535510||Erythema nodosum, familial|Familial erythema nodosum
C565384||Microcephaly, Primary Autosomal Recessive, 1|Premature Chromosome Condensation Syndrome|Premature Chromosome Condensation with Microcephaly and Mental Retardation
C535513||Lethal congenital erythroderma|Erythroderma lethal congenital|Erythroderma, Lethal Congenital
C535512||Erythroderma desquamativa of Leiner|Erythroderma Desquamativum of Infancy|Generalized erythroderma, diarrhea, and failure to thrive|Leiner-Moussous Desquamative Erythroderma
C536847||Familial multiple trichodiscomas|Hereditary multiple trichodiscomas|Trichodiscomas, Familial Multiple
300605|C564475||Retinitis Pigmentosa 34|RP34
C535515||Red skin pigment anomaly of New Guinea|Red skin pigment, New Guinea type
C564054||Midline Defects, X-Linked
C536848||Familial myelofibrosis
C564053||Thrombocytopenia, X-Linked, Intermittent
C565380||Ataxia-Telangiectasia Variant V2
C536845||Familial hypersecretion of adrenal androgens|Hypersecretion of adrenal androgens, familial
C535517||Refsum disease with increased pipecolic acidemia
C565381||Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
C536846||Familial hypersensitivity pneumonitis|Hypersensitivity pneumonitis familial|Hypersensitivity Pneumonitis, Familial
C535516||Reed&apos;s syndrome|Cutaneous leiomyomata with uterine leiomyomata|Hereditary leiomyomatosis and renal cell cancer|Leiomyoma, hereditary multiple, of skin|Leiomyoma, multiple cutaneous|Leiomyomatosis and renal cell cancer, hereditary|Multiple cutaneous and uterine leiomyomata 1|Multiple cutaneous and uterine leiomyomatosis
C564051||Thrombocytopenia with Elevated Serum Iga and Renal Disease
C565226||Hamartoma, Precalcaneal Congenital Fibrolipomatous
C564600|607258||Hypercalciuria, Absorptive, 1|HCA1
C566559||Plantar Lipomatosis, Unusual Facies, and Developmental Delay
212050||CANDIDIASIS, FAMILIAL, 2|CANDF2|CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE|CARD9 IMMUNODEFICIENCY
C566553||Ectodermal Dysplasia, Hidrotic, Autosomal Recessive
C565222||Vasculitis, Lymphocytic, Cutaneous Small Vessel
C566554||Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis
D060906||Coxa Valga|Acquired Coxa Valga|Acquired Coxa Valgas|Acquired Coxa Valgus|Congenital Coxa Valga|Congenital Coxa Valgas|Congenital Coxa Valgus|Coxa Valga, Acquired|Coxa Valga, Congenital|Coxa Valga, Developmental|Coxa Valgas|Coxa Valgas, Acquired|Coxa Valgas, Congenital|Coxa Valgas, Developmental|Coxa Valgus|Coxa Valgus, Acquired|Coxa Valgus, Congenital|Coxa Valgus, Developmental|Developmental Coxa Valga|Developmental Coxa Valgas|Developmental Coxa Valgus|Valga, Coxa|Valgas, Coxa|Valgus, Coxa
D060905||Coxa Vara|Acquired Coxa Vara|Acquired Coxa Varas|Acquired Coxa Varus|Congenital Coxa Vara|Congenital Coxa Varas|Congenital Coxa Varus|Coxa Vara, Acquired|Coxa Vara, Congenital|Coxa Vara, Developmental|Coxa Vara, Infantile|Coxa Varas|Coxa Varas, Acquired|Coxa Varas, Congenital|Coxa Varas, Developmental|Coxa Varas, Infantile|Coxa Varus|Coxa Varus, Acquired|Coxa Varus, Congenital|Coxa Varus, Developmental|Developmental Coxa Vara|Developmental Coxa Varas|Developmental Coxa Varus|Infantile Coxa Vara|Infantile Coxa Varas|Vara, Coxa|Varas, Coxa|Varus, Coxa
128200|C566847||Episodic Kinesigenic Dyskinesia 1|Dystonia 10|DYSTONIA, FAMILIAL PAROXYSMAL|DYT10|EKD1|Familial Paroxysmal Kinesigenic Dyskinesia|PAROXYSMAL KINESIGENIC CHOREOATHETOSIS|Paroxysmal Kinesigenic Dyskinesia|PKC|PKD
C579872||6q24-Related Transient Neonatal Diabetes Mellitus|6q24-Tndm|Tndm Type 1
C565229||Aortic Aneurysm, Familial Abdominal 2
D008325||Mammary Neoplasms, Experimental|Experimental Mammary Neoplasm|Experimental Mammary Neoplasms|Mammary Neoplasm, Experimental|Neoplasm, Experimental Mammary|Neoplasms, Experimental Mammary
C537369|602849||Muenke Syndrome|FGFR3-Associated Coronal Synostosis|MNKES|Muenke nonsyndromic coronal craniosynostosis|Syndrome of coronal craniosynostosis
D023961||Gonadal Dysgenesis, 46,XX|Gonadal Dysgenesis, 46, XX|Gonadal Dysgenesis, XX Type|Pure Gonadal Dysgenesis, 46,XX|Pure Gonadal Dysgenesis, 46, XX
C579867||3-Methylglutaconic Aciduria|3mga (3-Methylglutaconic Aciduria)
C536214|272430||Crisponi syndrome|CISS1|CNTF Receptor-Related Disorders|Cold-Induced Sweating Syndrome|COLD-INDUCED SWEATING SYNDROME 1|CRISPONI SYNDROME|MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH|Sohar-Crisponi Syndrome
C567349|612335||Spastic Paraplegia 38, Autosomal Dominant|SPG38
D007000||Hypodermyiasis|Hypodermyiases
C579862||3b-Hydroxysteroid Dehydrogenase Deficiency|3beta-Hsd Deficiency|3 Beta-Hsd Deficiency|3beta-Hsd Deficiency Congenital Adrenal Hyperplasia|3beta-Hydroxysteroid Dehydrogenase Deficiency|3-Beta Hydroxysteroid Dehydrogenase Deficiency|3 beta-ol Dehydrogenase Deficiency|Type II 3beta-Hydroxysteroid Dehydrogenase Deficiency
D046608||Synkinesis|Synkineses
C566560||Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
C565230||Aortic Aneurysm, Familial Abdominal 1
C536056|607634||Osteopetrosis autosomal dominant type 1|OPTA1|Osteopetrosis, Autosomal Dominant 1|Osteopetrosis, Autosomal Dominant, Type I
C565236||Deafness, Sensorineural, with Hypertrophic Cardiomyopathy
C566568||Peroxisome Biogenesis Disorder, Complementation Group 1
173600|C566795||Pneumothorax, Primary Spontaneous|PSP
C566569||Peroxisome Biogenesis Disorder, Complementation Group E
608516|D003865||Depressive Disorder, Major|Depression, Involutional|Depressive Disorders, Major|Disorder, Major Depressive|Disorders, Major Depressive|Involutional Depression|Involutional Melancholia|Involutional Psychoses|Involutional Psychosis|Major Depressive Disorder|Major Depressive Disorders|MDD|Melancholia, Involutional|Paraphrenia, Involutional|Psychoses, Involutional|Psychosis, Involutional|SAD, INCLUDED|UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER, INCLUDED
C566563||Progeroid Facial Appearance with Hand Anomalies
C566469|610489||Pigmented Nodular Adrenocortical Disease, Primary, 1|Adrenocortical Nodular Dysplasia, Primary|Cushing Syndrome, Adrenal, Due To PPNAD1|Pigmented Micronodular Adrenocortical Disease, Primary, 1|PPNAD1
C566611|601869||Deafness, Autosomal Recessive 15|DEAFNESS, AUTOSOMAL RECESSIVE 72|DEAFNESS, AUTOSOMAL RECESSIVE 95|DFMB15|DFNB15|DFNB72|DFNB95
D063173||Retrognathia|Mandibular Retroposition|Mandibular Retropositions|Mandibular Retrusion|Mandibular Retrusions|Maxillary Retroposition|Maxillary Retropositions|Maxillary Retrusion|Maxillary Retrusions|Retrognathias|Retrognathism|Retrognathisms|Retroposition, Mandibular|Retroposition, Maxillary|Retropositions, Mandibular|Retropositions, Maxillary|Retrusion, Mandibular|Retrusion, Maxillary|Retrusions, Mandibular|Retrusions, Maxillary
C566565||Ventriculomegaly With Defects Of The Radius And Kidney
C566566||Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
C537470|251850||Microvillus inclusion disease|Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities|Davidson disease|DIAR2|Diarrhea 2, With Microvillus Atrophy|Intractable diarrhea of infancy|Microvillus atrophy, congenital|MICROVILLUS INCLUSION DISEASE|MVID
C579880||Actin-Accumulation Myopathy|Actin Filament Aggregate Myopathy|Actin Myopathy|Congenital Myopathy with Excess of Thin Filaments
D007009||Hypolipoproteinemias|Hypolipoproteinemia|Hypoprebetalipoproteinemia
D007007||Hypohidrosis|Anhidrosis
D008338||Mandibular Injuries|Injuries, Mandibular|Injury, Mandibular|Mandibular Injury
D009669||Nose Neoplasms|Cancer, Nasal|Cancer, Nose|Cancer of Nose|Cancer of the Nose|Cancers, Nasal|Cancers, Nose|Nasal Cancer|Nasal Cancers|Nasal Neoplasm|Nasal Neoplasms|Neoplasm, Nasal|Neoplasm, Nose|Neoplasms, Nasal|Neoplasms, Nose|Nose Cancer|Nose Cancers|Nose Neoplasm
D007008||Hypokalemia|Hypokalemias|Hypopotassemia|Hypopotassemias
D008339||Mandibular Neoplasms|Mandibular Neoplasm|Neoplasm, Mandibular|Neoplasms, Mandibular
D009668||Nose Diseases|Disease, Nasal|Disease, Nose|Diseases, Nasal|Diseases, Nose|Disorder, Nasal|Disorders, Nasal|Nasal Disease|Nasal Diseases|Nasal Disorder|Nasal Disorders|Nose Disease
D008336||Mandibular Diseases|Disease, Mandibular|Diseases, Mandibular|Mandibular Disease
D009667||Nose Deformities, Acquired|Acquired Nasal Deformities|Acquired Nasal Deformity|Acquired Nose Deformities|Acquired Nose Deformity|Nasal Deformities, Acquired|Nasal Deformity, Acquired|Nose Deformity, Acquired
D007006||Hypogonadism|Hypergonadotropic Hypogonadism|Hypogonadism, Hypergonadotropic|Hypogonadism, Hypogonadotropic|Hypogonadism, Isolated Hypogonadotropic|Hypogonadotropic Hypogonadism
D008337||Mandibular Fractures|Fracture, Mandibular|Fractures, Mandibular|Mandibular Fracture
D007003||Hypoglycemia|Fasting Hypoglycemia|Hypoglycemia, Fasting|Hypoglycemia, Postabsorptive|Hypoglycemia, Postprandial|Hypoglycemia, Reactive|Postabsorptive Hypoglycemia|Postprandial Hypoglycemia|Reactive Hypoglycemia
C535752|212066||Congenital disorder of glycosylation type 2A|ALKURAYA SYNDROME|Carbohydrate-deficient glycoprotein syndrome, type 2|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY|CDG2A|CDGIIA|CDG IIA|CDGS2, FORMERLY|Congenital Disorder Of Glycosylation, Type IIA|MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH
D007012||Hypopharyngeal Neoplasms|Cancer, Hypopharyngeal|Cancers, Hypopharyngeal|Hypopharyngeal Cancer|Hypopharyngeal Cancers|Hypopharyngeal Neoplasm|Neoplasm, Hypopharyngeal|Neoplasms, Hypopharyngeal
C579878||Achondrogenesis|Achondrogenesis Syndrome
D007010||Hyponatremia|Hyponatremias
D007011||Hypoparathyroidism|Hypoparathyroidism, Idiopathic|Idiopathic Hypoparathyroidism
C579873||9q22.3 Microdeletion|9q22.3 Deletion|9q22 Deletion Syndrome|Microdeletion 9q22.3 Syndrome
C566572||Cervical Dystonia, Primary|Dystonia, Primary Cervical
C566573||Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease
C566535||Hyperlipidemia, Combined, 1|FCHL1|Hyperlipidemia, Familial Combined, 1|HYPLIP1
D013967|608173||Thyroiditis, Autoimmune|AITD1|AITD2|AITD3|AITD4|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4|Autoimmune Thyroiditides|Autoimmune Thyroiditis|Lymphocytic Thyroiditides|Lymphocytic Thyroiditis|Lymphomatous Thyroiditides|Lymphomatous Thyroiditis|Thyroiditides, Autoimmune|Thyroiditides, Lymphocytic|Thyroiditides, Lymphomatous|Thyroiditis, Lymphocytic|Thyroiditis, Lymphomatous
C565204||Parkinson Disease 13|PARK13
C567865||Zechi-Ceide Syndrome|Occipital Atretic Cephalocele, Unusual Facies, and Large Feet
C538111|600089||Pancreatic beta cell agenesis with neonatal diabetes mellitus|Congenital absence of insulin-producing beta cells with diabetes mellitus
C566531||Pseudoacromegaly with Severe Insulin Resistance
C565200||Osteogenesis Imperfecta Type VII|OI7|OI, Type VII
C567864||Giacheti Syndrome|Marfanoid Habitus and Specific Language and Learning Disabilities
D008309||Mallory-Weiss Syndrome|Gastroesophageal Laceration Hemorrhage|Gastroesophageal Laceration-Hemorrhage|Gastroesophageal Laceration-Hemorrhages|Junction, Mucosal Lacerations-Gastroesophageal|Junctions, Mucosal Lacerations-Gastroesophageal|Laceration-Hemorrhage, Gastroesophageal|Laceration-Hemorrhages, Gastroesophageal|Laceration, Mallory-Weiss|Lacerations-Gastroesophageal Junction, Mucosal|Lacerations-Gastroesophageal Junctions, Mucosal|Mallory Weiss Laceration|Mallory-Weiss Laceration|Mallory Weiss Syndrome|Mallory Weiss Tear|Mallory-Weiss Tear|Mucosal Lacerations Gastroesophageal Junction|Mucosal Lacerations-Gastroesophageal Junction|Mucosal Lacerations-Gastroesophageal Junctions|Syndrome, Mallory-Weiss
C567863||Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi|Cloves Syndrome|Clove Syndrome|Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities
604286|C535902||Limb-girdle muscular dystrophy, type 2E|Beta-sarcoglycan limb-girdle muscular dystrophy|LGMD2E|Muscular Dystrophy, Limb-Girdle, Type 2E|Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency
192315|C566007||Vasculopathy, Retinal, With Cerebral Leukodystrophy|Cerebroretinal Vasculopathy, Hereditary|CRV|Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena|RVCL
D046628||Sphincter of Oddi Dysfunction|Sphincter of Oddi Dyskinesia|Sphincter of Oddi Stenosis
D008305||Malignant Hyperthermia|Anesthesia Hyperthermia|Anesthesia Hyperthermias|Anesthesia Related Hyperthermia|Anesthesia Related Hyperthermias|Hyperpyrexia, Malignant|Hyperpyrexias, Malignant|Hyperthermia, Anesthesia Related|Hyperthermia, Malignant|Hyperthermia of Anesthesia|Hyperthermias, Anesthesia Related|Malignant Hyperpyrexia|Malignant Hyperpyrexias|Malignant Hyperthermias|Related Hyperthermia, Anesthesia|Related Hyperthermias, Anesthesia
C579850||16p11.2 Deletion Syndrome
D008303||Malignant Carcinoid Syndrome|Carcinoid Syndrome, Malignant|Carcinoid Syndromes, Malignant|Malignant Carcinoid Syndromes|Syndrome, Malignant Carcinoid|Syndromes, Malignant Carcinoid
D008304||Malignant Catarrh|Catarrh, Malignant|Catarrhs, Malignant|Malignant Catarrhs
C565209||Sclerocornea
D008310||Malocclusion|Angle Classification|Angle&apos;s Classification|Angles Classification|Bite, Cross|Bites, Cross|Classification, Angle&apos;s|Crossbite|Cross Bite|Crossbites|Cross Bites|Crowdings, Tooth|Crowding, Tooth|Malocclusions|Tooth Crowding
D008311||Malocclusion, Angle Class I|Angle Class I|Class I, Angle
D010623||Phencyclidine Abuse|Abuse, Angel Dust|Abuse, PCP|Abuse, Phencyclidine|Angel Dust Abuse|PCP Abuse|Phencyclidine Abuses|Phencyclidine-Related Disorder|Phencyclidine Related Disorders|Phencyclidine-Related Disorders
D058606||Accessory Atrioventricular Bundle|Accessory Atrioventricular Bundles|Accessory Atrioventricular Pathway|Accessory Atrioventricular Pathways|Accessory Conducting Pathway|Accessory Conducting Pathways|Accessory Pathway, Concealed|Accessory Pathway, Fasciculoventricular|Accessory Pathway, Nodoventricular|Accessory Pathways, Concealed|Accessory Pathways, Fasciculoventricular|Accessory Pathways, Nodoventricular|Atrio Hisian Bypass Tract|Atrio-Hisian Bypass Tract|Atrio-Hisian Bypass Tracts|Atriohisian Fiber|Atriohisian Fibers|Atriohisian Tract|Atriohisian Tracts|Atrioventricular Bundle, Accessory|Atrioventricular Bundles, Accessory|Atrioventricular Pathway, Accessory|Atrioventricular Pathways, Accessory|Bundle, Accessory Atrioventricular|Bundle, Kent|Bundle of Kent|Bundles, Accessory Atrioventricular|Bypass Tract, Atrio-Hisian|Bypass Tracts, Atrio-Hisian|Concealed Accessory Pathway|Concealed Accessory Pathways|Conducting Pathway, Accessory|Conducting Pathways, Accessory|Fasciculoventricular Accessory Pathway|Fasciculoventricular Accessory Pathways|Fasciculoventricular Pathway|Fasciculoventricular Pathways|Fiber, Atriohisian|Fibers, Atriohisian|Fibers, James|Fibers, Mahaim|James Fibers|Kent Bundle|Mahaim Fibers|Nodoventricular Accessory Pathway|Nodoventricular Accessory Pathways|Nodoventricular Pathway|Nodoventricular Pathways|Pathway, Accessory Atrioventricular|Pathway, Accessory Conducting|Pathway, Concealed Accessory|Pathway, Fasciculoventricular|Pathway, Fasciculoventricular Accessory|Pathway, Nodoventricular|Pathway, Nodoventricular Accessory|Pathways, Accessory Atrioventricular|Pathways, Accessory Conducting|Pathways, Concealed Accessory|Pathways, Fasciculoventricular|Pathways, Fasciculoventricular Accessory|Pathways, Nodoventricular|Pathways, Nodoventricular Accessory|Tract, Atriohisian|Tract, Atrio-Hisian Bypass|Tracts, Atriohisian|Tracts, Atrio-Hisian Bypass
604321||MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE|MCPH4
C566540||Migraine, Familial Basilar
C579849||15q24 Microdeletion|15q24 Deletion|15q24 Microdeletion Syndrome|Interstitial Deletion of Chromosome 15q24
D063192||Pregnancy, Heterotopic|Cornual Heterotopic Pregnancies|Cornual Heterotopic Pregnancy|Heterotopic Pregnancies|Heterotopic Pregnancies, Cornual|Heterotopic Pregnancies, Tubal|Heterotopic Pregnancy|Heterotopic Pregnancy, Cornual|Heterotopic Pregnancy, Tubal|Pregnancies, Cornual Heterotopic|Pregnancies, Heterotopic|Pregnancies, Tubal Heterotopic|Pregnancy, Cornual Heterotopic|Pregnancy, Tubal Heterotopic|Tubal Heterotopic Pregnancies|Tubal Heterotopic Pregnancy
C567878||Erythrocyte Amp Deaminase Deficiency
C566543||Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
C566544||Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities|Sams
C563415|600977||Cone-Rod Dystrophy 5|CORD5
D008312||Malocclusion, Angle Class II|Angle Class II|Class II, Angle
210710|C537577||Microcephalic osteodysplastic primordial dwarfism, type 1|Brachymelic primordial dwarfism|Cephaloskeletal dysplasia|Low-birth-weight dwarfism with skeletal dysplasia|Microcephalic Osteodysplastic Primordial Dwarfism, Type I|MOPD|MOPD1|MOPD I|Osteodysplastic primordial dwarfism, type 1|Osteodysplastic Primordial Dwarfism, Type I|TALS|Taybi Linder syndrome|Taybi-Linder Syndrome
D008313||Malocclusion, Angle Class III|Angle Class III|Class III, Angle|Underbite|Underbites
C535494|131850||Epidermolysis bullosa, pretibial|DEB, PRETIBIAL|Dystrophic Epidermolysis Bullosa, Pretibial|Epidermolysis Bullosa Dystrophica, Pretibial|EPIDERMOLYSIS BULLOSA, PRETIBIAL|Pretibial epidermolysis bullosa
208400|D054880||Aspartylglucosaminuria|AGA Deficiencies|AGA Deficiency|AGU|Aspartylglucosamidase Deficiencies|Aspartylglucosamidase Deficiency|ASPARTYLGLUCOSAMINIDASE DEFICIENCY|Aspartylglucosaminurias|Aspartylglycosaminuria|Aspartylglycosaminurias|Deficiencies, AGA|Deficiencies, Aspartylglucosamidase|Deficiency, AGA|Deficiency, Aspartylglucosamidase|Glycoasparaginase|Glycoasparaginases|GLYCOSYLASPARAGINASE DEFICIENCY
C567835|612968||Cataract, Autosomal Recessive Congenital 3|CATARACT 34, MULTIPLE TYPES|CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3|CATC3|CTRCT34
D058617||Composite Lymphoma|Composite Lymphomas|Lymphoma, Composite|Lymphomas, Composite
D001327|109100||Autoimmune Diseases|AIS6|Autoimmune Disease|AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6|Disease, Autoimmune|Diseases, Autoimmune
C567492|262700||Pituitary Hormone Deficiency, Combined, 4|CPHD4|Pituitary Hormone Deficiency, Combined, With Or Without Cerebellar Defects|Short Stature, Pituitary And Cerebellar Defects, And Small Sella Turcica
203300|C538539||Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells|ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS|Delta storage pool disease|HERMANSKY-PUDLAK SYNDROME 1|HPS1
C565220||Bleeding Disorder Due To P2RY12 Defect
106280|C562396||Ankyloglossia|Tongue Tie|&apos;TONGUE-TIE&apos;
604317||MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS|MCPH2
C567844||Dystonia-Parkinsonism, Adult-Onset|Parkinson Disease 14, Autosomal Recessive
C537746|258315||Omodysplasia type 1|MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS|OMOD1|Omodysplasia 1|Omodysplasia, Autosomal Recessive|Omodysplasia autosomal recessive form|Omodysplasia generalized form|Omodysplasia, Generalized Form|Omodysplasia (Maroteaux)
C567843||Myopathy, Myofibrillar, Bag3-Related
C566514||Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
C566515||Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation
D023921||Coronary Stenosis|Artery Stenoses, Coronary|Artery Stenosis, Coronary|Coronary Artery Stenoses|Coronary Artery Stenosis|Coronary Stenoses|Stenoses, Coronary|Stenoses, Coronary Artery|Stenosis, Coronary|Stenosis, Coronary Artery
C562405|265100||Pulmonary Alveolar Microlithiasis
C567841||Ventricular Fibrillation, Paroxysmal Familial, 2
C542540||Spinocerebellar ataxia 22
D009617||Nocardia Infections|Cerebral Nocardioses|Cerebral Nocardiosis|Cutaneous Nocardioses, Primary|Cutaneous Nocardiosis, Primary|Infection, Nocardia|Infections, Nocardia|Nocardia Infection|Nocardioses|Nocardioses, Cerebral|Nocardioses, Primary Cutaneous|Nocardioses, Pulmonary|Nocardiosis|Nocardiosis, Cerebral|Nocardiosis, Primary Cutaneous|Nocardiosis, Pulmonary|Primary Cutaneous Nocardioses|Primary Cutaneous Nocardiosis|Pulmonary Nocardioses|Pulmonary Nocardiosis
209920|C537079||Bare lymphocyte syndrome 2|BARE LYMPHOCYTE SYNDROME|Bare lymphocyte syndrome type 2|Bare Lymphocyte Syndrome, Type II|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B, INCLUDED|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C, INCLUDED|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D, INCLUDED|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E, INCLUDED|BLS|BLS Type II|BLS, TYPE II|SCID, HLA Class 2-Negative|SCID, HLA Class II-Negative|SCID, HLA CLASS II-NEGATIVE BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED|Severe combined immunodeficiency, HLA class ii-negative
D046648||Hematoma, Subdural, Intracranial|Hematoma, Intracranial Subdural|Hematomas, Intracranial Subdural|Hematoma, Subdural, Cranial|Intracranial Subdural Hematoma|Intracranial Subdural Hematomas|Intracranial Subdural Hematoma, Traumatic|Subdural Hematoma, Intracranial|Subdural Hematomas, Intracranial|Subdural Hematoma, Traumatic, Intracranial|Traumatic Intracranial Subdural Hematoma
D010608||Pharyngeal Diseases|Disease, Pharyngeal|Disease, Pharynx|Diseases of Pharynx|Diseases, Pharyngeal|Diseases, Pharynx|Pharyngeal Disease|Pharynx Disease|Pharynx Diseases
254210|C535759||Congenital myasthenic syndrome with episodic apnea|CMS1A2|CMS-EA|CMS Ia2|Congenital myasthenic syndrome type 1a|Congenital Myasthenic Syndrome Type Ia|CONGENITAL MYASTHENIC SYNDROME TYPE Ia2|FIM|FIMG2, FORMERLY|Myasthenia familial infantile|Myasthenia, Familial Infantile|MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY|Myasthenic syndrome congenital associated with episodic apnea|Myasthenic Syndrome, Congenital, Associated With Episodic Apnea|Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea
D046649||Hematoma, Subdural, Spinal|Hematoma, Spinal Subdural|Hematomas, Spinal Subdural|Spinal Subdural Hematoma|Spinal Subdural Hematomas|Spinal Subdural Hematoma, Traumatic|Subdural Hematoma, Spinal|Subdural Hematoma, Spinal, Traumatic|Subdural Hematomas, Spinal|Traumatic Spinal Subdural Hematoma
C535428|606798||Benign essential blepharospasm|Blepharospasm, Benign Essential|Essential Blepharospasm|Eyelid Twitching|Primary Blepharospasm|Spasm of Eyelids
C566516||Pancreatic Lymphoma, Familial
C566519||Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation
C567849||Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
C537119|127300||Leri-Weil syndrome|Dyschondrosteosis|DYSCHONDROSTEOSIS;DCO MADELUNG DEFORMITY, INCLUDED|Leri-weill dyschondrosteosis|L&#233;ri-Weill Dyschondrosteosis|LWD
D017204|105830||Angelman Syndrome|ANCR, INCLUDED|AS|Children, Puppet|Happy Puppet Syndrome|HAPPY PUPPET SYNDROME, FORMERLY ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED|Puppet Children|Syndrome, Angelman|Syndrome, Happy Puppet
D059952||Pelvic Floor Disorders|Disease, Pelvic Floor|Diseases, Pelvic Floor|Disorder, Pelvic Floor|Disorders, Pelvic Floor|Pelvic Floor Disease|Pelvic Floor Diseases|Pelvic Floor Disorder
C567551|612847||Spondyloepimetaphyseal Dysplasia, Pakistani Type|BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES|SEMD, Pakistani Type|SPONDYLODYSPLASIA AND PREMATURE PUBARCHE|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE
D058627||Macrocephaly|Macrocephalies
C563448|600757||Orofacial Cleft 3|Cleft Lip with or without Cleft Palate, Nonsyndromic, 3|OFC3
C537150|240800||Hypoglycemia, leucine-induced|Leucine-sensitive hypoglycemia of infancy|LIH
D058625||End Stage Liver Disease|Chronic Liver Failure|Chronic Liver Failures|Failure, Chronic Liver|Failures, Chronic Liver|Liver Failure, Chronic|Liver Failures, Chronic
C566523||Spondyloepimetaphyseal Dysplasia, Shohat Type|SEMD, Shohat Type
C566524||Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
C566525||Microcephaly, Macrotia, And Mental Retardation
C566526||Anal Atresia, Hypospadias, and Penoscrotal Inversion
C567851||Ventricular Fibrillation, Paroxysmal Familial, 1
C566520||Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
C567850||Hadziselimovic Syndrome|Microcephaly-Faciocardioskeletal Syndrome
115195|C566171||Cardiomyopathy, Familial Hypertrophic, 2|CMH2
C566521||Brachydactyly, Intraventricular Septal Defect, And Deafness
C566522||Craniomicromelic Syndrome
C564531|300345||Microphthalmia, Isolated, with Coloboma 1|MCOPCB1|Microphthalmia, Colobomatous, Isolated 1
604232|C565814||Leber Congenital Amaurosis 3|LCA3|Retinitis Pigmentosa, Juvenile, SPATA7-Related|RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED, INCLUDED
D009625||Noma|Cancrum Oris|Gangrenous Stomatitides|Gangrenous Stomatitis|Nomas|Stomatitides, Gangrenous|Stomatitis, Gangrenous
D010024|166710||Osteoporosis|Age-Related Bone Loss|Age-Related Bone Losses|Age-Related Osteoporoses|Age Related Osteoporosis|Age-Related Osteoporosis|BMND|Bone Loss, Age Related|Bone Loss, Age-Related|Bone Losses, Age-Related|BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS|Osteoporoses|Osteoporoses, Age-Related|Osteoporoses, Senile|Osteoporosis, Age Related|Osteoporosis, Age-Related|Osteoporosis, Involutional|OSTEOPOROSIS, INVOLUTIONAL FRACTURE, HIP, SUSCEPTIBILITY TO, INCLUDED|OSTEOPOROSIS, POSTMENOPAUSAL|Osteoporosis, Post Traumatic|Osteoporosis, Post-Traumatic|Osteoporosis, Senile|Post-Traumatic Osteoporoses|Post-Traumatic Osteoporosis|Senile Osteoporoses|Senile Osteoporosis
C566527||Muscular Dystrophy, Congenital, Megaconial Type
C567858||Spastic Paraplegia-50, Autosomal Recessive
C566529||Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly|Grange Occlusive Arterial Syndrome
C563752|609271||Keratoconus 4|KTCN4
D009631||Nonodontogenic Cysts|Cyst, Nonodontogenic|Cysts, Nonodontogenic|Nonodontogenic Cyst
D009630||Nondisjunction, Genetic|Genetic Nondisjunction|Genetic Non Disjunction|Genetic Non-Disjunction|Genetic Nondisjunctions|Genetic Non-Disjunctions|Non Disjunction, Genetic|Non-Disjunction, Genetic|Nondisjunctions, Genetic|Non-Disjunctions, Genetic
C567647|613312||Hypophosphatemic Rickets, Autosomal Recessive, 2|ARHR2
D010610||Pharyngeal Neoplasms|Cancer of Pharynx|Cancer of the Pharynx|Cancer, Pharnyx|Cancer, Pharyngeal|Cancers, Pharnyx|Cancers, Pharyngeal|Neoplasm, Pharyngeal|Neoplasm, Pharynx|Neoplasms, Pharyngeal|Neoplasms, Pharynx|Pharnyx Cancer|Pharnyx Cancers|Pharyngeal Cancer|Pharyngeal Cancers|Pharyngeal Neoplasm|Pharynx Cancer|Pharynx Cancers|Pharynx Neoplasm|Pharynx Neoplasms
D010612||Pharyngitis|Pharyngitides|Sore Throat|Sore Throats|Throat, Sore
C535476|608470||Corneal dystrophy of Bowman layer, type 1|CDB1|CDRB|Corneal dystrophy, geographic|Corneal Dystrophy Of Bowman Layer, Type I|Corneal dystrophy, Reis-Bucklers type|Granular Corneal Dystrophy, Type III|RBCD|Reis-Bucklers corneal dystrophy|Reis-Bucklers dystrophy
C567821||Febrile Convulsions, Familial, 3b
607595|C564372||Brain Small Vessel Disease with Hemorrhage|Brain Small Vessel Disease With Axenfeld-Rieger Anomaly|Brain Small-Vessel Disease with Hemorrhage|Col4a1-Related Brain Small-Vessel Disease|Infantile Hemiparesis|Leukoencephalopathy With Axenfeld-Rieger Anomaly|LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY, INCLUDED|Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant|RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY, INCLUDED
D014190||Transvestism|Fetishisms, Transvestic|Fetishism, Transvestic|Transvestic Fetishism|Transvestic Fetishisms|Transvestisms
C567820||Febrile Convulsions, Familial, 3a|Convulsions, Familial Febrile, 3a|Seizures, Familial Febrile, 3a
C567046|610921||Surfactant Metabolism Dysfunction, Pulmonary, 3|Interstitial Lung Disease Due To ABCA3 Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 3|SMDP3
D023903||Coronary Restenosis|Coronary Restenoses|Restenoses, Coronary|Restenosis, Coronary
C565390|251000||Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency|Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency|METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY|Methylmalonic Aciduria, mut(0) Type|Methylmalonic Aciduria, mut(-) Type|Methylmalonic Aciduria, MUT Type|METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED|METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED|MMA due to MCM Deficiency
C565310|605642||Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia|PRN1|PTCPRN
C565320|605582||Cardiomyopathy, Dilated, 1K|CMD1K
C567827||Generalized Epilepsy With Febrile Seizures Plus, 7|GEFSP7|Generalized Epilepsy With Febrile Seizures Plus, Type 7
190350||TRICHORHINOPHALANGEAL SYNDROME, TYPE I|TRPS1|TRPS I
D014189||Transsexualism|Transsexualisms
D014188||Transposition of Great Vessels|Dextro Looped Transposition of the Great Arteries|Dextro-Looped Transposition of the Great Arteries|Great Arteries Transposition|Great Arteries Transpositions|Great Vessels Transposition|Great Vessels Transpositions|Transposition of Great Arteries
302045||CARDIOMYOPATHY, DILATED, 3B|CARDIOMYOPATHY, DILATED, X-LINKED|CMD3B|XLCM
C563322|601410||Diabetes Mellitus, Transient Neonatal, 1|DMTN|TNDM|TNDM1
C566502||Visceral Neuropathy, Familial, Autosomal Dominant|Enteric Neuropathy, Familial|Pseudoobstruction, Chronic Intestinal, Neuropathic|Pseudoobstruction, Idiopathic Intestinal
C567053|610878||Vesicoureteral Reflux 2|VUR2
C567831||Emery-Dreifuss Muscular Dystrophy 4|Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
C567830||Emery-Dreifuss Muscular Dystrophy 5
C566509||External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
D011928||Raynaud Disease|Cold Fingers, Hereditary|Raynaud Phenomenon|Raynaud&apos;s Disease|Raynauds Disease
C566507||Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
C566508||Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence|Congenital Fibrosis Syndrome with Synergistic Divergence|External Ophthalmoplegia with Synergistic Divergence
C567425|612079||Alopecia, Neurologic Defects, and Endocrinopathy Syndrome|ANE Syndrome
607676|C564352||IRAK4 Deficiency|IRAK4D|Irak-4 Deficiency
C535323|153550||5q- syndrome|5q deletion syndrome|5q- SYNDROME|Chromosome 5q Deletion Syndrome|Macrocytic Anemia, Refractory, Due To 5q Deletion|MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETION;MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED, INCLUDED|Refractory macrocytic anemia due to 5q deletion
C537589|602450||Severe combined immunodeficiency with sensitivity to ionizing radiation|ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED|RS-SCID|SCIDA, INCLUDED|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED|SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL, INCLUDED
C566411|603075||Macular Degeneration, Age-Related, 1|ARMD1|Maculopathy, Age-Related, 1
D002189||Marijuana Abuse|Abuse, Cannabis|Abuse, Hashish|Abuse, Marihuana|Abuse, Marijuana|Cannabis Abuse|Cannabis Dependence|Cannabis Related Disorder|Cannabis-Related Disorder|Dependence, Cannabis|Dependence, Marijuana|Disorder, Cannabis-Related|Hashish Abuse|Marihuana Abuse|Marijuana Dependence
C565360|613791||MASP2 Deficiency
C567804||Dursun Syndrome|Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect
C531844||Von willebrand factor, deficiency
D002194||Capgras Syndrome|Syndrome, Capgras
C531847||Wallerian degeneration of the pyramidal tract
C531849||Intestinal lipophagic granulomatosis|Secondary Non-tropical Sprue
D056005||Leprosy, Paucibacillary|Borderline Tuberculoid|Borderline Tuberculoids|Indeterminate Tuberculoid|Indeterminate Tuberculoids|Leprosies, Paucibacillary|Paucibacillary Leprosies|Paucibacillary Leprosy|Tuberculoid, Borderline|Tuberculoid, Indeterminate|Tuberculoids, Borderline|Tuberculoids, Indeterminate
D056006||Leprosy, Multibacillary|Borderline Lepromatous|Lepromatous, Borderline|Lepromatous, Midborderline|Leprosies, Multibacillary|Midborderline Lepromatous|Multibacillary Leprosies|Multibacillary Leprosy
C531841||Benign non-infected urachal cyst|Giant urachal cyst|Infected urachal cyst|Inflamed urachal cyst
D015499||Renal Tubular Transport, Inborn Errors|Kidney Tubular Transport, Inborn Error|Kidney Tubular Transport, Inborn Errors|Renal Tubular Transport Errors|Renal Tubular Transport, Inborn Error
132000|C562638||Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails|Epidermolysis Bullosa Dystrophica, Bart Type
C567810||Chromosome 19q13.11 Deletion Syndrome
226670|C535955||Epidermolysa bullosa simplex and limb girdle muscular dystrophy|EBS-MD|Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy|Epidermolysis Bullosa Simplex with Muscular Dystrophy|MDEBS|MD-EBS
600803||GALLBLADDER DISEASE 1|CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED|GBD1|LPAC
C567819||Santos Syndrome|Fibular Agenesis/Hypoplasia, Oligodactylous Clubfeet, and Anonychia/Nail Hypoplasia Syndrome
D011906||Rat-Bite Fever|Fever, Ratbite|Fever, Rat-Bite|Fevers, Ratbite|Fevers, Rat-Bite|Ratbite Fever|Rat Bite Fever|Ratbite Fevers|Rat-Bite Fevers|Sodoku
C537466|309801||Microphthalmia, syndromic 7|MCOPS7|Microphthalmia, dermal aplasia, and sclerocornea|Microphthalmia with linear skin defects|Microphthalmia with Linear Skin Defects Syndrome|Microphthalmia with Linear Skin Lesions Syndrome|Midas Syndrome|MLS|Syndromic Microphthalmia-7
607785|D054429||Leukemia, Myelomonocytic, Juvenile|CMML, INCLUDED|JMML|Juvenile Chronic Myelogenous Leukemia|Juvenile Myelomonocytic Leukemia|Juvenile Myelomonocytic Leukemias|Leukemia, Juvenile Myelomonocytic|LEUKEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOMONOCYTIC, INCLUDED|Myelomonocytic Leukemia, Juvenile|Myelomonocytic Leukemias, Juvenile
C567814||Cataract, Age-Related Cortical, 2|Arcc2
D058674||Chromosome Duplication|Chromosomal Duplication|Chromosomal Duplications|Chromosome Duplications|Duplication, Chromosomal|Duplication, Chromosome|Duplications, Chromosomal|Duplications, Chromosome
C531857||Zellweger leukodystrophy
D011900||Ranula|Ranulas
D058670||Tetrasomy|Partial Tetrasomies|Partial Tetrasomy|Tetrasomies|Tetrasomies, Partial|Tetrasomy, Partial
D014178||Translocation, Genetic|Chromosomal Translocation|Chromosomal Translocations|Genetic Translocation|Genetic Translocations|Translocation, Chromosomal|Translocations, Chromosomal|Translocations, Genetic
142700||DEVELOPMENTAL DYSPLASIA OF THE HIP 1|ACETABULAR DYSPLASIA|CDH|DDH|DDH1|HIP DYSPLASIA, CONGENITAL|HIP DYSPLASIA, DEVELOPMENTAL
D000437|103780||Alcoholism|Abuse, Alcohol|Addiction, Alcohol|Alcohol Abuse|Alcohol Addiction|Alcohol Dependence|Alcoholic Intoxication, Chronic|ALCOHOLISM|Chronic Alcoholic Intoxication|Dependence, Alcohol|Intoxication, Chronic Alcoholic
C563848|608810||Alpha-B Crystallinopathy|ALPHA-B CRYSTALLINOPATHY|MFM2|Myopathy, Cardioskeletal, Desmin-Related, with Cataract|Myopathy, Desmin-Related, associated with Mutation in the CRYAB Gene|MYOPATHY, MYOFIBRILLAR, 2|Myopathy, Myofibrillar, Alpha-B Crystallin-Related|MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY
D002169||Campylobacter Infections|Campylobacter Infection|Infection, Campylobacter|Infections, Campylobacter
D058686||Coronary-Subclavian Steal Syndrome|Coronary Subclavian Steal Syndrome|Syndrome, Coronary-Subclavian Steal|Syndromes, Coronary-Subclavian Steal
D058687||Out-of-Hospital Cardiac Arrest|Cardiac Arrest, Out-of-Hospital|Cardiac Arrests, Out-of-Hospital|Heart Arrest, Out-of-Hospital|Heart Arrests, Out-of-Hospital|Out of Hospital Cardiac Arrest|Out-of-Hospital Cardiac Arrests|Out of Hospital Heart Arrest|Out-of-Hospital Heart Arrest|Out-of-Hospital Heart Arrests
C537505|262650||Kowarski syndrome|BIODEFECTIVE GROWTH HORMONE|Nanism due to growth hormone qualitative anomaly|Pituitary dwarfism 4|Pituitary dwarfism with normal immunoreactive growth hormone|Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin
D015479||Leukemia, Myelomonocytic, Acute|Acute Myelomonocytic Leukemia|Acute Myelomonocytic Leukemias|Leukemia, Acute Myelomonocytic|Leukemia, Myeloid, Acute, M4|Leukemia, Myeloid, Naegeli-Type|Leukemia, Naegeli-Type Myeloid|Leukemias, Acute Myelomonocytic|Myeloid Leukemia, Acute, M4|Myeloid Leukemia, Naegeli Type|Myeloid Leukemia, Naegeli-Type|Myelomonocytic Leukemia, Acute|Myelomonocytic Leukemias, Acute|Naegeli-Type Myeloid Leukemia
209950|D009165||Mycobacterium Infections, Nontuberculous|Atypical Mycobacterial Infection, Disseminated|ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED|Atypical Mycobacterioses, Familial|Atypical Mycobacteriosis, Familial|Atypical Mycobacteriosis, Familial Disseminated|Atypical Mycobacterium Infection|Atypical Mycobacterium Infections|BCG AND SALMONELLA INFECTION, DISSEMINATED, INCLUDED|BCG INFECTION, GENERALIZED FAMILIAL SEMIBENIGN, AUTOSOMAL DOMINANT, INCLUDED|Familial Atypical Mycobacterioses|Familial Atypical Mycobacteriosis|Infection, Atypical Mycobacterium|Infection, Nontuberculous Mycobacterium|Infections, Atypical Mycobacterium|Infections, Nontuberculous Mycobacterium|MYCOBACTERIAL DISEASE, MENDELIAN SUSCEPTIBILITY TO;MSMD BCG INFECTION, GENERALIZED FAMILIAL, INCLUDED|Mycobacterioses, Familial Atypical|Mycobacteriosis, Familial Atypical|Mycobacterium Infection, Atypical|Mycobacterium Infection, Nontuberculous|Mycobacterium Infections, Atypical|Nontuberculous Mycobacterium Infection|Nontuberculous Mycobacterium Infections
D015477||Leukemia, Myelomonocytic, Chronic|Chronic Myelomonocytic Leukemia|Chronic Myelomonocytic Leukemias|Leukemia, Chronic Myelomonocytic|Leukemias, Chronic Myelomonocytic|Myelomonocytic Leukemia, Chronic|Myelomonocytic Leukemias, Chronic
D015490||HTLV-I Infections|HTLV-I Infection|HTLV I Infections|Infection, HTLV-I|Infections, HTLV I|Infections, HTLV-I
D015494||Salivary Gland Calculi|Calculi, Salivary Gland|Calculus, Salivary Gland|Gland Calculi, Salivary|Gland Calculus, Salivary|Gland Stone, Salivary|Gland Stones, Salivary|Salivary Gland Calculus|Salivary Gland Stone|Salivary Gland Stones|Sialolith|Sialolithiasis|Sialoliths|Stone, Salivary Gland|Stones, Salivary Gland
D015491||HTLV-II Infections|HTLV-II Infection|Infection, HTLV-II|Infections, HTLV II|Infections, HTLV-II
D002178||Candidiasis, Chronic Mucocutaneous|Candidiases, Chronic Mucocutaneous|Chronic Mucocutaneous Candidiases|Chronic Mucocutaneous Candidiasis|Mucocutaneous Candidiases, Chronic|Mucocutaneous Candidiasis, Chronic
D002179||Candidiasis, Cutaneous|Candidiases, Cutaneous|Cutaneous Candidiases|Cutaneous Candidiasis|Cutaneous Moniliases|Cutaneous Moniliasis|Moniliases, Cutaneous|Moniliasis, Cutaneous
D002177||Candidiasis|Candidiases|Moniliases|Moniliasis
D002181||Candidiasis, Vulvovaginal|Monilial Vaginitides|Monilial Vaginitis|Moniliasis, Vulvovaginal|Vaginitides, Monilial|Vaginitis, Monilial|Vulvovaginal Candidiases|Vulvovaginal Candidiasis|Vulvovaginal Moniliases|Vulvovaginal Moniliasis
604391||ATAXIA-TELANGIECTASIA-LIKE DISORDER|ATLD
C564747|277380||Methylmalonic Aciduria and Homocystinuria, CblF Type|cblF|Cobalamin, Defect in Lysosomal Release of|Cobalamin F Disease|Methylmalonic Acidemia and Homocystinuria, CblF Type|Methylmalonic Aciduria due to Vitamin B12-Release Defect|Vitamin B12 Lysosomal Release Defect|Vitamin B12 Storage Disease
D002180||Candidiasis, Oral|Candidiases, Oral|Moniliases, Oral|Moniliasis, Oral|Oral Candidiases|Oral Candidiasis|Oral Moniliases|Oral Moniliasis|Thrush
C575214|613371||Spinocerebellar ataxia 30|SCA30
D015461||Leukemia, Prolymphocytic, T-Cell|Leukemia, Lymphocytic, Chronic, T Cell|Leukemia, Lymphocytic, Chronic, T-Cell|Leukemias, T-Cell Prolymphocytic|Leukemia, T Cell, Chronic|Leukemia, T-Cell, Chronic|Leukemia, T-Cell Prolymphocytic|Lymphocytic Leukemia, T Cell, Chronic|Lymphocytic Leukemia, T-Cell, Chronic|Prolymphocytic Leukemias, T-Cell|Prolymphocytic Leukemia, T-Cell|T-Cell Leukemia, Chronic|T Cell Prolymphocytic Leukemia|T-Cell Prolymphocytic Leukemia|T-Cell Prolymphocytic Leukemias|T-Lymphocytic Leukemia, Chronic
304730|C535376||Dermoids of cornea|Bilateral corneal dermoids|CND|Corneal dermoids and short stature|Guizar-Vazquez Luengas-Munoz syndrome
615031||SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE|SPG49
D002145||Callosities|Callosity|Corns
D003480||Cushing Syndrome|Cushing&apos;s Syndrome|Hypercortisolism|Syndrome, Cushing|Syndrome, Cushing&apos;s
D015459||Leukemia-Lymphoma, Adult T-Cell|Adult T-Cell Leukemia|Adult T-Cell Leukemia-Lymphoma|Adult T-Cell Leukemia-Lymphomas|Adult T-Cell Leukemias|ATLL|HTLV Associated Leukemia Lymphoma|HTLV-Associated Leukemia-Lymphoma|HTLV-Associated Leukemia-Lymphomas|HTLV I Associated T Cell Leukemia Lymphoma|HTLV-I-Associated T-Cell Leukemia-Lymphoma|HTLV-I-Associated T-Cell Leukemia-Lymphomas|Human T Cell Leukemia Lymphoma|Human T-Cell Leukemia-Lymphoma|Human T-Cell Leukemia-Lymphomas|Human T Lymphotropic Virus Associated Leukemia Lymphoma|Human T Lymphotropic Virus-Associated Leukemia-Lymphoma|Leukemia, Adult T Cell|Leukemia, Adult T-Cell|Leukemia Lymphoma, Adult T Cell|Leukemia-Lymphoma, HTLV-Associated|Leukemia-Lymphoma, HTLV-I-Associated T-Cell|Leukemia-Lymphoma, Human T-Cell|Leukemia-Lymphomas, Adult T-Cell|Leukemia-Lymphomas, HTLV-Associated|Leukemia-Lymphomas, HTLV-I-Associated T-Cell|Leukemia-Lymphomas, Human T-Cell|Leukemia Lymphoma, T Cell, Acute, HTLV I Associated|Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated|Leukemias, Adult T-Cell|T Cell Leukemia, Adult|T-Cell Leukemia, Adult|T Cell Leukemia Lymphoma, Adult|T-Cell Leukemia-Lymphoma, Adult|T Cell Leukemia Lymphoma, HTLV I Associated|T-Cell Leukemia-Lymphoma, HTLV-I-Associated|T-Cell Leukemia-Lymphoma, Human|T-Cell Leukemia-Lymphomas, Adult|T-Cell Leukemia-Lymphomas, HTLV-I-Associated|T-Cell Leukemia-Lymphomas, Human|T-Cell Leukemias, Adult
C564791|610313||Cold-Induced Sweating Syndrome 1|CISS2|Cold-Induced Sweating Syndrome 2|Sweating, Cold-Induced
D014123||Toxoplasmosis|Infections, Toxoplasma gondii|Infection, Toxoplasma gondii|Toxoplasma gondii Infection|Toxoplasma gondii Infections|Toxoplasmoses
D011546|145260||Pseudohypoaldosteronism|Familial Hyperpotassemia and Hypertension|Familial Hypertensive Hyperkalemia|Familial Hypertensive Hyperkalemias|Gordon Hyperkalemia Hypertension Syndrome|Gordon Hyperkalemia-Hypertension Syndrome|Hyperkalemia, Familial Hypertensive|Hyperkalemia-Hypertension Syndrome, Gordon|Hyperkalemias, Familial Hypertensive|Hyperpotassemia and Hypertension, Familial|Hypertensive Hyperkalemia, Familial|Hypertensive Hyperkalemias, Familial|I, Pseudohypoaldosteronism Type|Is, Pseudohypoaldosteronism Type|PHA1A|PHA1B|PHA2A|PHA I, AUTOSOMAL DOMINANT|PHA I, AUTOSOMAL RECESSIVE|PHP1B|PHP1C|PHP IB|PHP IC|Pseudohypoaldosteronisms|Pseudohypoaldosteronisms, Type I|Pseudohypoaldosteronisms, Type II|Pseudohypoaldosteronism Type 1|Pseudohypoaldosteronism Type 1, Autosomal Dominant|Pseudohypoaldosteronism Type 1, Autosomal Recessive|Pseudohypoaldosteronism Type 1s|Pseudohypoaldosteronism Type 2|Pseudohypoaldosteronism Type 2s|Pseudohypoaldosteronism Type I|Pseudohypoaldosteronism, Type I|Pseudohypoaldosteronism, Type I, Autosomal Dominant|Pseudohypoaldosteronism, Type I, Autosomal Recessive|Pseudohypoaldosteronism Type Ii|Pseudohypoaldosteronism, Type II|PSEUDOHYPOALDOSTERONISM, TYPE IIA|Pseudohypoaldosteronism Type Is|PSEUDOHYPOPARATHYROIDISM, TYPE IB|PSEUDOHYPOPARATHYROIDISM, TYPE IC|Syndrome, Gordon Hyperkalemia-Hypertension|Type 1, Pseudohypoaldosteronism|Type II Pseudohypoaldosteronism|Type II Pseudohypoaldosteronisms|Type I Pseudohypoaldosteronism|Type I, Pseudohypoaldosteronism|Type Is, Pseudohypoaldosteronism
D015452||Precursor B-Cell Lymphoblastic Leukemia-Lymphoma|Leukemia, Pre B Cell|Leukemia, Pre-B-Cell|Leukemias, Pre-B-Cell|Pre B ALL|Pre B-ALL|Pre-B ALL|Pre B Cell Leukemia|Pre-B-Cell Leukemia|Pre-B-Cell Leukemias|Precursor B Cell Lymphoblastic Leukemia|Precursor B-Cell Lymphoblastic Leukemia|Precursor B Cell Lymphoblastic Leukemia Lymphoma|Precursor B Cell Lymphoblastic Lymphoma|Precursor B-Cell Lymphoblastic Lymphoma
D014120||Toxocariasis|Toxocariases
D015458||Leukemia, T-Cell|Leukemia, Lymphocytic, T Cell|Leukemia, Lymphocytic, T-Cell|Leukemias, T-Cell|Leukemias, T-Cell Lymphocytic|Leukemias, T Lymphocytic|Leukemias, T-Lymphocytic|Leukemia, T Cell|Leukemia, T-Cell Lymphocytic|Leukemia, T Lymphocytic|Leukemia, T-Lymphocytic|Lymphocytic Leukemias, T|Lymphocytic Leukemias, T-Cell|Lymphocytic Leukemia, T|Lymphocytic Leukemia, T Cell|Lymphocytic Leukemia, T-Cell|T Cell Leukemia|T-Cell Leukemia|T-Cell Leukemias|T-Cell Lymphocytic Leukemia|T-Cell Lymphocytic Leukemias|T Lymphocytic Leukemia|T-Lymphocytic Leukemia|T Lymphocytic Leukemias|T-Lymphocytic Leukemias
D014126||Toxoplasmosis, Ocular|Ocular Toxoplasmoses|Ocular Toxoplasmosis|Toxoplasmoses, Ocular
D015456||Leukemia, Biphenotypic, Acute|Acute Biphenotypic Leukemia|Acute Biphenotypic Leukemias|Acute Leukemia, Biphenotypic|Acute Leukemia, Hybrid|Acute Leukemia, Mixed-Lineage|Acute Leukemias, Biphenotypic|Acute Leukemias, Hybrid|Acute Leukemias, Mixed-Lineage|B and T Cell Acute Lymphoblastic Leukemia|B- and T-Cell Acute Lymphoblastic Leukemia|B and T Cell Leukemia, Acute|B- and T-Cell Leukemia, Acute|Biphenotypic Acute Leukemia|Biphenotypic Acute Leukemias|Biphenotypic Leukemia, Acute|Biphenotypic Leukemias, Acute|Hybrid Acute Leukemia|Hybrid Acute Leukemias|Leukemia, Acute Biphenotypic|Leukemia, Biphenotypic Acute|Leukemia, Hybrid Acute|Leukemia, Lymphocytic, Acute, Mixed Cell|Leukemia, Lymphocytic, Acute, Mixed-Cell|Leukemia, Mixed, B and T Cell|Leukemia, Mixed, B- and T-Cell|Leukemia, Mixed Cell|Leukemia, Mixed-Cell|Leukemia, Mixed-Lineage Acute|Leukemias, Acute Biphenotypic|Leukemias, Biphenotypic Acute|Leukemias, Hybrid Acute|Leukemias, Mixed-Cell|Leukemias, Mixed-Lineage Acute|Lymphocytic Leukemia, Acute, B and T Cell|Lymphocytic Leukemia, Acute, B- and T-Cell|Mixed-Cell Leukemia|Mixed-Cell Leukemias|Mixed-Lineage Acute Leukemia|Mixed Lineage Acute Leukemias|Mixed-Lineage Acute Leukemias
D014125||Toxoplasmosis, Congenital|Congenital Infection, Toxoplasma gondii|Congenital Toxoplasma gondii Infection|Congenital Toxoplasma Infection|Congenital Toxoplasma Infections|Congenital Toxoplasmoses|Congenital Toxoplasmosis|Fetal Toxoplasmoses|Fetal Toxoplasmosis|Infection, Congenital Toxoplasma|Infections, Congenital Toxoplasma|Prenatal Toxoplasmoses|Prenatal Toxoplasmosis|Toxoplasma Infection, Congenital|Toxoplasma Infections, Congenital|Toxoplasmoses, Congenital|Toxoplasmoses, Fetal|Toxoplasmoses, Prenatal|Toxoplasmosis, Fetal|Toxoplasmosis, Prenatal
D014124||Toxoplasmosis, Animal|Animal Toxoplasmoses|Animal Toxoplasmosis|Toxoplasmoses, Animal
C565747|604802||Huntington Disease-Like 3|HDL3|Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive
D011535|100100||Prune Belly Syndrome|Abdominal Muscle Deficiency Syndrome|ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM|Congenital Absence of the Abdominal Muscles|Eagle Barrett Syndrome|Eagle-Barrett Syndrome|EGBRS|Obrinsky Syndrome|Prune-Belly Syndrome|PRUNE BELLY SYNDROME|Prune Belly Syndromes|Prune-Belly Syndromes|Syndrome, Eagle-Barrett|Syndrome, Obrinsky|Syndrome, Prune Belly|Syndrome, Prune-Belly|Syndromes, Prune Belly|Syndromes, Prune-Belly
D015472||Leukemia, Eosinophilic, Acute|Acute Eosinophilic Leukemia|Acute Eosinophilic Leukemias|Eosinophilic Leukemia, Acute|Eosinophilic Leukemias, Acute|Leukemia, Acute Eosinophilic|Leukemias, Acute Eosinophilic
D014141||Trachoma|Egyptian Ophthalmia|Ophthalmia, Egyptian|Trachomas
D015471||Leukemia, Basophilic, Acute|Acute Basophilic Leukemia|Acute Basophilic Leukemias|Basophilic Leukemia, Acute|Basophilic Leukemias, Acute|Leukemia, Acute Basophilic|Leukemias, Acute Basophilic
205100|C565957||Amyotrophic Lateral Sclerosis 2, Juvenile|ALS2|ALSJ|ALS, Juvenile
C537492|108300||Stickler syndrome, type 1|AOM|Arthroophthalmopathy, hereditary progressive|Stickler syndrome, membranous vitreous type|Stickler Syndrome, Type I|Stickler syndrome, vitreous type 1|STL1
D003483||Cutis Laxa|Dermatolyses|Dermatolysis|Dermatomegaly
604370||BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1|BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED|BROVCA1|OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED
D003490||Cyanosis|Cyanoses
C562733|136880||Fundus Albipunctatus|Retinitis Punctata Albescens|RETINITIS PUNCTATA ALBESCENS, INCLUDED
603040||TUMOR SUPPRESSOR GENE ON CHROMOSOME 11|NONSMALL CELL LUNG CANCER SUPPRESSOR|TSG11
203100|C537728||Oculocutaneous albinism type 1|Albinism 1|Albinism I|Albinism, Oculocutaneous, Type IA|ATN|OCA1|OCA1A|Oculocutaneous albinism type 1A|Oculocutaneous Albinism, Type I|Oculocutaneous albinism, tyrosinase negative|Oculocutaneous Albinism, Tyrosinase-Negative
145701|C536605||Ambras syndrome|AMBRAS SYNDROME|HTC1|Hypertrichosis universalis congenita Ambras type|Hypertrichosis Universalis Congenita, Ambras Type
603041||MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)|MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED|MNGIE, TYMP-RELATED|MTDPS1|MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME|POLIP SYNDROME|POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
607085|C564628||Myasthenia Gravis with Thymus Hyperplasia|MYAS1
D015465||Leukemia, Myeloid, Accelerated Phase|Leukemia, Myelogenous, Aggressive Phase|Leukemia, Myelogenous, Aggressive-Phase|Leukemia, Myeloid, Accelerated-Phase|Leukemia, Myeloid, Aggressive-Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|Myelogenous Leukemia, Chronic, Aggressive-Phase|Myeloid Leukemia, Chronic, Accelerated Phase|Myeloid Leukemia, Chronic, Accelerated-Phase|Myeloid Leukemia, Chronic, Aggressive Phase|Myeloid Leukemia, Chronic, Aggressive-Phase
D014134||Tracheal Neoplasms|Neoplasms, Tracheal|Neoplasm, Tracheal|Tracheal Neoplasm
D014133||Tracheal Diseases|Diseases, Tracheal|Disease, Tracheal|Tracheal Disease
D015463||Leukemia, Prolymphocytic|Leukemias, Prolymphocytic|Prolymphocytic Leukemia|Prolymphocytic Leukemias
D014138||Tracheoesophageal Fistula|Esophagotracheal Fistula|Esophagotracheal Fistulas|Fistula, Esophagotracheal|Fistulas, Esophagotracheal|Fistulas, Tracheoesophageal|Fistula, Tracheoesophageal|Tracheoesophageal Fistulas
171200||THIOUREA TASTING|PHENYLTHIOCARBAMIDE TASTING, INCLUDED|PROP TASTING, INCLUDED|PROPYLTHIOURACIL TASTING, INCLUDED|PTC TASTING, INCLUDED
D014137||Tracheobronchomegaly|Congenital Tracheobronchomegalies|Congenital Tracheobronchomegaly|Mounier Kuhn Syndrome|Mounier-Kuhn Syndrome|Tracheobronchomegalies|Tracheobronchomegalies, Congenital|Tracheobronchomegaly, Congenital
D015467||Leukemia, Neutrophilic, Chronic|Chronic Neutrophilic Leukemia|Chronic Neutrophilic Leukemias|Leukemia, Chronic Neutrophilic|Leukemias, Chronic Neutrophilic|Neutrophilic Leukemia, Chronic|Neutrophilic Leukemias, Chronic
D014136||Tracheitis|Tracheitides
D015466||Leukemia, Myeloid, Chronic-Phase|Granulocytic Leukemia, Chronic, Stable Phase|Granulocytic Leukemia, Chronic, Stable-Phase|Leukemia, Granulocytic, Chronic Phase|Leukemia, Granulocytic, Chronic-Phase|Leukemia, Myelogenous, Chronic Phase|Leukemia, Myelogenous, Chronic-Phase|Leukemia, Myeloid, Chronic Phase|Leukemia, Myeloid, Stable Phase|Leukemia, Myeloid, Stable-Phase|Myelogenous Leukemia, Chronic, Chronic Phase|Myelogenous Leukemia, Chronic, Chronic-Phase|Myeloid Leukemia, Chronic, Chronic Phase|Myeloid Leukemia, Chronic, Chronic-Phase|Myeloid Leukemia, Chronic, Stable-Phase
D014135||Tracheal Stenosis|Stenoses, Tracheal|Stenosis, Tracheal|Tracheal Stenoses
C567359|612290||Microtia, Hearing Impairment, And Cleft Palate|MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, INCLUDED
D016770||Ciliophora Infections|Ciliophora Infection|Infection, Ciliophora|Infections, Ciliophora
D002128||Calcium Metabolism Disorders|Calcium Metabolism Disorder|Disorder, Calcium Metabolism|Disorders, Calcium Metabolism
D015493|159580||Paraparesis, Tropical Spastic|Familial Spastic Paraparesis, Htlv 1 Associated|Familial Spastic Paraparesis, Htlv-1-Associated|HAM|Htlv-1-Associated Myelopathies|Htlv-1-Associated Myelopathy|HTLV I Associated Myelopathies|HTLV-I-Associated Myelopathies|HTLV I Associated Myelopathy|HTLV-I-Associated Myelopathy|HTLV I Associated Myelopathy Tropical Spastic Paraparesis|HTLV-I-Associated Myelopathy-Tropical Spastic Paraparesis|Human T Lymphotropic Virus Type 1 Associated Myelopathy|Human T-Lymphotropic Virus Type 1 Associated Myelopathy|Myelopathies, Htlv-1-Associated|Myelopathies, HTLV I Associated|Myelopathies, HTLV-I-Associated|Myelopathy, Htlv 1 Associated|Myelopathy, Htlv-1-Associated|Myelopathy, HTLV-I-Associated|Myelopathy, Human T Lymphotropic Virus Type 1 Associated|Myelopathy, Human T-Lymphotropic Virus Type 1 Associated|Parapareses, Tropical Spastic|Paraplegias, Tropical Spastic|Paraplegia, Tropical Spastic|Spastic Parapareses, Tropical|Spastic Paraparesis, Tropical|Spastic Paraplegias, Tropical|Spastic Paraplegia, Tropical|Tropical Spastic Parapareses|Tropical Spastic Paraparesis|Tropical Spastic Paraplegia|Tropical Spastic Paraplegias
D003457||Cryptosporidiosis|Cryptosporidioses
D003453||Cryptococcosis|Cryptococcoses|Toruloses|Torulosis
D015439||Leprosy, Borderline|Borderline Leprosies|Borderline Leprosy|Dimorphous Leprosies|Dimorphous Leprosy|Leprosies, Borderline|Leprosies, Dimorphous|Leprosy, Dimorphous
D016769||Embolism and Thrombosis|Thrombosis and Embolism
140600|D010003||Osteoarthritis|Arthritides, Degenerative|Arthritis, Degenerative|Degenerative Arthritides|Degenerative Arthritis|DIPOA|GOA1|HAND OSTEOARTHRITIS;HOA HEBERDEN NODES, INCLUDED|OA|OADIP|OS1|OS2|OS3|OS4|OS5|OS6|Osteoarthritides|OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA|OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS|OSTEOARTHRITIS OF HIP|OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO|OSTEOARTHRITIS OF KNEE|OSTEOARTHRITIS OF KNEE/HIP|OSTEOARTHRITIS SUSCEPTIBILITY 1|OSTEOARTHRITIS SUSCEPTIBILITY 2|OSTEOARTHRITIS SUSCEPTIBILITY 3|OSTEOARTHRITIS SUSCEPTIBILITY 4|OSTEOARTHRITIS SUSCEPTIBILITY 5|OSTEOARTHRITIS SUSCEPTIBILITY 6|Osteoarthroses|Osteoarthrosis|Osteoarthrosis Deformans
D015432||Glomerulonephritis, Membranoproliferative|DDD MPGNII|Dense Deposit Disease|Glomerulonephritides, Hypocomplementemic|Glomerulonephritides, Membranoproliferative|Glomerulonephritides, Mesangiocapillary|Glomerulonephritis, Hypocomplementemic|Glomerulonephritis, Mesangiocapillary|Hypocomplementemic Glomerulonephritides|Hypocomplementemic Glomerulonephritis|Membranoproliferative Glomerulonephritides|Membranoproliferative Glomerulonephritis|Membranoproliferative Glomerulonephritis, Subendothelial|Membranoproliferative Glomerulonephritis, Type I|Membranoproliferative Glomerulonephritis Type II|Membranoproliferative Glomerulonephritis, Type II|Membranoproliferative Glomerulonephritis, Type III|Mesangiocapillary Glomerulonephritides|Mesangiocapillary Glomerulonephritis|Mesangiocapillary Glomerulonephritis, Type I|Mesangiocapillary Glomerulonephritis, Type II|MPGN|MPGNII|Subendothelial Membranoproliferative Glomerulonephritis|Type II MPGN
C565171|120502||Branchiootic Syndrome 2|BOS2|BO Syndrome 2
D015431||Weight Loss|Losses, Weight|Loss, Weight|Reductions, Weight|Reduction, Weight|Weight Losses|Weight Reduction|Weight Reductions
D015430||Weight Gain|Gains, Weight|Gain, Weight|Weight Gains
D016766||Feline Infectious Peritonitis|Feline Infectious Peritonitides|Infectious Peritonitides, Feline|Infectious Peritonitis, Feline|Peritonitis, Feline Infectious|Peritonitis, Infectious, Feline
C538154|186100||Syndactyly, type 3|Familial syndactyly type 3|Ring and little finger syndactyly|SDTY3|Syndactyly of fingers four and five|Syndactyly Of Fingers IV and V|Syndactyly of the ring and little finger|Syndactyly, Type III
D016767||Caroli Disease|Caroli&apos;s Disease|Carolis Disease|Caroli&apos;s Syndrome|Carolis Syndrome|Caroli Syndrome|Disease, Caroli|Disease, Caroli&apos;s|Syndrome, Caroli&apos;s
D015436||Panniculitis, Peritoneal|Lipodystrophy, Mesenteric|Liposclerotic Mesenteritis|Mesenteric Lipodystrophy|Mesenteric Panniculitis|Mesenteric Weber Christian Disease|Mesenteric Weber-Christian Disease|Mesenteritis, Liposclerotic|Mesenteritis, Retractile|Mesenteritis, Sclerosing|Omental Panniculitis|Panniculitis, Mesenteric|Panniculitis, Omental|Peritoneal Panniculitis|Retractile Mesenteritis|Sclerosing Mesenteritis
209300|C538259||Congenital atransferrinemia|Atransferrinemia|Familial hypotransferrinemia|Hypotransferrinemia, Familial|HYPOTRANSFERRINEMIA, FAMILIAL TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED|TFQTL1, INCLUDED
D015435||Panniculitis, Lupus Erythematosus|Lupus Erythematosus Panniculitides|Lupus Erythematosus Panniculitis|Lupus Erythematosus Profundus|Lupus Panniculitides|Lupus Panniculitis|Lupus Profundus|Panniculitides, Lupus|Panniculitides, Lupus Erythematosus|Panniculitis, Lupus
D015434||Panniculitis|Cold Panniculitides|Cold Panniculitis|Panniculitides|Panniculitides, Cold|Panniculitis, Cold|Panniculitis, Subacute Nodular Migratory
D014103||Torticollis|Cervical Dystonia|Intermittent Torticollis|Psychogenic Torticollis|Spasmodic Torticollis|Torticollis, Intermittent|Torticollis, Psychogenic|Torticollis, Spasmodic|Wryneck
D015433||Glomerulonephritis, Membranous|Extramembranous Glomerulopathy|Glomerulonephritides, Idiopathic Membranous|Glomerulonephritides, Membranous|Glomerulonephritis, Idiopathic Membranous|Glomerulonephropathy, Membranous|Glomerulopathy, Extramembranous|Glomerulopathy, Membranous|Heymann Nephritis|Idiopathic Membranous Glomerulonephritides|Idiopathic Membranous Glomerulonephritis|Idiopathic Membranous Nephropathy|Membranous Glomerulonephritides|Membranous Glomerulonephritides, Idiopathic|Membranous Glomerulonephritis|Membranous Glomerulonephritis, Idiopathic|Membranous Glomerulonephropathy|Membranous Glomerulopathy|Membranous Nephropathy|Membranous Nephropathy, Idiopathic|Nephritis, Heymann|Nephropathy, Idiopathic Membranous|Nephropathy, Membranous
D014102||Torsion Abnormality|Abnormalities, Torsion|Abnormality, Torsion|Torsion Abnormalities
C537842|603386||Nonmedullary thyroid carcinoma, with or without cell oxyphilia|TCO|TCO1|Thyroid Carcinoma, Nonmedullary, With Or Without Cell Oxyphilia
C531821||Stenotrophomonas maltophilia bacteremia
C566857|204500||Ceroid Lipofuscinosis, Neuronal, 2|Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset|CLN2|JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, INCLUDED|LINCL, INCLUDED
300554|D053098||Familial Hypophosphatemic Rickets|Hereditary Hypophosphatemic Rickets|Hereditary Vitamin D Resistant Rickets|Hereditary Vitamin D-Resistant Rickets|HPDR|HYP|Hypophosphatemia, X Linked|Hypophosphatemia, X-Linked|Hypophosphatemic Rickets, Familial|Hypophosphatemic Rickets, Hereditary|Hypophosphatemic Rickets, X-Linked|Hypophosphatemic Rickets, X Linked Dominant|Hypophosphatemic Rickets, X-Linked Dominant|Hypophosphatemic Rickets, X Linked Recessive|Hypophosphatemic Rickets, X-Linked Recessive|HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS|Rickets, Familial Hypophosphatemic|Rickets, Hereditary Hypophosphatemic|Rickets, X-Linked Hypophosphatemic|Vitamin D Resistant Rickets|Vitamin D Resistant Rickets, Hereditary|Vitamin D-Resistant Rickets, Hereditary|Vitamin D Resistant Rickets, X Linked|Vitamin D-Resistant Rickets, X-Linked|XLH|XLHR|X Linked Hypophosphatemia|X-Linked Hypophosphatemia|X-Linked Hypophosphatemic Rickets
D016780||Malaria, Vivax|Malaria, Plasmodium vivax|Plasmodium vivax Malaria|Vivax Malaria
D016781||Toxoplasmosis, Cerebral|Central Nervous System Toxoplasmosis|Cerebral Toxoplasmosis|Intracranial Toxoplasmosis|Neurotoxoplasmosis|Toxoplasmoses, Cerebral|Toxoplasmosis, Central Nervous System|Toxoplasmosis, Intracranial
247200|D054221||Classical Lissencephalies and Subcortical Band Heterotopias|Agyria Pachygyria Band Spectrum|Agyria-Pachygyria-Band Spectrum|Band Heterotopia, Lissencephaly-Subcortical|Chromosome 17p13.3 Deletion Syndrome|Classical Lissencephalies|Classical Lissencephaly|Classical Lissencephaly Syndrome|Classic Lissencephaly|DC SYNDROME, INCLUDED|Double Cortex Syndrome|DOUBLE CORTEX SYNDROME, INCLUDED|Heterotopia, Lissencephaly-Subcortical Band|Heterotopias, Lissencephaly-Subcortical Band|Heterotopias, Subcortical Band|Heterotopias, Subcortical Laminar|Heterotopia, Subcortical Band|Heterotopia, Subcortical Laminar|Isolated Lissencephaly Sequence|Lissencephalies, Classical|Lissencephalies, Type 1|Lissencephalies, X-Linked|Lissencephaly 1|LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED|Lissencephaly, Classic|Lissencephaly, Classical|Lissencephaly, Miller Dieker|Lissencephaly, Miller-Dieker|Lissencephaly Sequence, Isolated|Lissencephaly Subcortical Band Heterotopia|Lissencephaly-Subcortical Band Heterotopia|Lissencephaly-Subcortical Band Heterotopias|Lissencephaly Syndrome, Miller Dieker|Lissencephaly Syndrome, Miller-Dieker|Lissencephaly Type 1|Lissencephaly, Type 1|Lissencephaly, X Linked|Lissencephaly, X-Linked|Lissencephaly, X-Linked, 1|LISX1|MDCR, INCLUDED|MDLS|MDS CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED|Miller-Dieker Lissencephaly|Miller Dieker Lissencephaly Syndrome|Miller-Dieker Lissencephaly Syndrome|Miller Dieker Syndrome|Miller-Dieker Syndrome|MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED|SBH, INCLUDED|SCLH, INCLUDED|Subcortical Band Heterotopia|Subcortical Band Heterotopias|SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED|Subcortical Laminar Heterotopia|Syndrome, Double Cortex|Syndrome, Miller-Dieker|Syndrome, Miller-Dieker Lissencephaly|Type 1 Lissencephalies|Type 1 Lissencephaly|X-Linked Lissencephalies|X Linked Lissencephaly|X-Linked Lissencephaly|XLIS
D002137||Calculi|Biliary or Urinary Stones|Calculus
C531833||Ophthalmoplegia, painful|Nonspecific inflammation of the cavernous sinus or superior orbital fissure
C531834||Toxocara canis infection (canine roundworms)|Human infection with the larvae of canine or feline roundworms|Toxocara catis infection (feline roundworms)
D015448||Leukemia, B-Cell|B Cell Leukemia|B-Cell Leukemia|B-Cell Leukemias|B-Cell Lymphocytic Leukemia|B-Cell Lymphocytic Leukemias|B Lymphocytic Leukemia|B-Lymphocytic Leukemia|B-Lymphocytic Leukemias|Leukemia, B Cell|Leukemia, B-Cell Lymphocytic|Leukemia, B-Lymphocytic|Leukemia, Lymphocytic, B Cell|Leukemia, Lymphocytic, B-Cell|Leukemias, B-Cell|Leukemias, B-Cell Lymphocytic|Leukemias, B-Lymphocytic|Lymphocytic Leukemia, B Cell|Lymphocytic Leukemia, B-Cell|Lymphocytic Leukemias, B-Cell
C531836||Congenital agenesis of the tricuspid valve
C562963|113500||Brachyolmia Type 3|Brachyolmia, Autosomal Dominant|Brachyrachia
D016779||Malaria, Cerebral|Cerebral Malaria|Malaria Meningitis|Meningitis, Malaria
C565394|250940||Methylcobalamin Deficiency, CblG Type|HMAG|HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE|Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type|METHIONINE SYNTHASE DEFICIENCY|METHYLCOBALAMIN DEFICIENCY, cblG TYPE
D016776||Blastocystis Infections|Blastocystis Infection|Infection, Blastocystis|Infections, Blastocystis
D015441||Leprosy, Tuberculoid|Leprosies, Macular|Leprosies, Neural|Leprosies, Tuberculoid|Leprosy, Macular|Leprosy, Neural|Macular Leprosies|Macular Leprosy|Neural Leprosies|Neural Leprosy|Tuberculoid Leprosies|Tuberculoid Leprosy
D015440||Leprosy, Lepromatous|Cutaneous Leprosies|Cutaneous Leprosy|Lepromatous Leprosies|Lepromatous Leprosy|Leprosies, Cutaneous|Leprosies, Lepromatous|Leprosies, Nodular|Leprosy, Cutaneous|Leprosy, Nodular|Nodular Leprosies|Nodular Leprosy
D016778||Malaria, Falciparum|Malaria, Plasmodium falciparum|Plasmodium falciparum Malaria
D014115||Toxemia|Toxemias
D016773||Leishmaniasis, Cutaneous|American Leishmaniasis|Cutaneous Leishmaniases|Cutaneous Leishmaniasis|Leishmaniases, Cutaneous|Leishmaniasis, American|Leishmaniasis, New World|Leishmaniasis, Old World|New World Leishmaniasis|Old World Leishmaniasis|Oriental Sore|Sore, Oriental
D016774||Leishmaniasis, Diffuse Cutaneous|Cutaneous Leishmaniases, Diffuse|Cutaneous Leishmaniasis, Diffuse|Diffuse Cutaneous Leishmaniases|Diffuse Cutaneous Leishmaniasis|Leishmaniases, Diffuse Cutaneous
C535492||Epidermolysis bullosa, late-onset localized junctional, with mental retardation|Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders
D004889||Erysipelothrix Infections|Erysipelothrix Infection|Infection, Erysipelothrix|Infections, Erysipelothrix
D003557||Phyllodes Tumor|Cystosarcoma Phyllodes|Cystosarcoma Phyllodes, Malignant|Cystosarcoma Phylloides|Malignant Cystosarcoma Phyllodes|Phyllodes Tumors|Tumor, Phyllodes|Tumors, Phyllodes
C535496||Epilepsy occipital calcifications|Bilateral occipital calcifications with epilepsy|Epilepsy with bilateral occipital calcifications|Familial unilateral and bilateral occipital calcifications and epilepsy
C535497||Epilepsy telangiectasia|Epilepsy-Telangiectasia
D004884||Eructation|Belching|Belchings|Eructations
D004887||Erysipeloid|Erysipeloids
308230|D053307||Hyper-IgM Immunodeficiency Syndrome, Type 1|HIGM|HIGM1|HIGM1 Syndrome|HIGM1 Syndromes|Hyper-IgM Immunodeficiencies, X-Linked|Hyper IgM Immunodeficiency Syndrome, Type 1|Hyper IgM Immunodeficiency, X Linked|Hyper-IgM Immunodeficiency, X-Linked|HYPER-IgM SYNDROME|Hyper IgM Syndrome 1|Hyper-IgM Syndrome 1|IHIS|Immunodeficiencies, X-Linked Hyper-IgM|Immunodeficiency with Hyper IgM, Type 1|Immunodeficiency with Hyper-IgM, Type 1|Immunodeficiency, X-Linked Hyper-IgM|Syndrome 1, Hyper-IgM|Syndrome, HIGM1|Syndromes, HIGM1|XHIM|X-Linked Hyper-IgM Immunodeficiencies|X-Linked Hyper-IgM Immunodeficiency|X Linked Hyper IgM Syndrome|X-Linked Hyper IgM Syndrome
D004886||Erysipelas
219900|C562683||Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type|Cystinosis, Intermediate
D003556||Cystitis|Cystitides
D004881||Ergotism|Ergotisms|Ergot Poisoning|Ergot Poisonings|Fire, St. Anthonys|Poisoning, Ergot|Poisonings, Ergot|Saint Anthony Fire|Saint Anthony&apos;s Fire|Saint Anthonys Fire|St. Anthony Fire|St. Anthony&apos;s Fire|St. Anthonys Fire
D003551||Cysticercosis|Cysticercoses
D004890||Erythema|Erythemas
D014205||Trench Fever|Fevers, Trench|Fever, Trench|Trench Fevers
C536887|118100||Klippel Feil syndrome dominant type|Cervical vertebral fusion, autosomal dominant|KFS|KFS1|KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT|Klippel-Feil syndrome, autosomal dominant
D016868||Serratia Infections|Infection, Serratia|Infections, Serratia|Serratia Infection
D016869||Ureaplasma Infections|Infections, Ureaplasma|Infection, Ureaplasma|Ureaplasma Infection
C535489||Chromosome 14, trisomy mosaic|Trisomy 14 mosaic|Trisomy 14 mosaicism|Trisomy 14 mosaicism syndrome
D016863||Bacillaceae Infections|Bacillaceae Infection|Infection, Bacillaceae|Infections, Bacillaceae
C535488||Chromosome 14 trisomy|Trisomy 14
D016864||Li-Fraumeni Syndrome|Li Fraumeni Syndrome
167959||HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1|HPV18I1|PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1
D016866||Bacteroidaceae Infections|Bacteroidaceae Infection|Infection, Bacteroidaceae|Infections, Bacteroidaceae
D014202||Tremor|Action Tremor|Action Tremors|Coarse Tremor|Coarse Tremors|Continuous Tremor|Continuous Tremors|Darkness Tremor|Darkness Tremors|Fine Tremor|Fine Tremors|Intention Tremor|Intention Tremors|Intermittent Tremor|Intermittent Tremors|Involuntary Quiver|Involuntary Quivers|Limb Tremor|Limb Tremors|Massive Tremor|Massive Tremors|Muscle Tremor|Muscle Tremors|Neonatal Tremor|Neonatal Tremors|Nerve Tremor|Nerve Tremors|Passive Tremor|Passive Tremors|Perioral Tremor|Perioral Tremors|Persistent Tremor|Persistent Tremors|Pill Rolling Tremor|Pill Rolling Tremors|Quiver, Involuntary|Quivers, Involuntary|Resting Tremor|Resting Tremors|Rest Tremor|Rest Tremors|Rolling Tremor, Pill|Rolling Tremors, Pill|Saturnine Tremor|Saturnine Tremors|Semirhythmic Tremor|Semirhythmic Tremors|Senile Tremor|Senile Tremors|Static Tremor|Static Tremors|Tremor, Action|Tremor, Coarse|Tremor, Continuous|Tremor, Darkness|Tremor, Fine|Tremor, Intention|Tremor, Intermittent|Tremor, Limb|Tremor, Massive|Tremor, Muscle|Tremor, Neonatal|Tremor, Nerve|Tremor, Passive|Tremor, Perioral|Tremor, Persistent|Tremor, Pill Rolling|Tremor, Rest|Tremor, Resting|Tremors|Tremors, Action|Tremor, Saturnine|Tremors, Coarse|Tremors, Continuous|Tremors, Darkness|Tremor, Semirhythmic|Tremor, Senile|Tremors, Fine|Tremors, Intention|Tremors, Intermittent|Tremors, Limb|Tremors, Massive|Tremors, Muscle|Tremors, Neonatal|Tremors, Nerve|Tremors, Passive|Tremors, Perioral|Tremors, Persistent|Tremors, Pill Rolling|Tremors, Rest|Tremors, Resting|Tremors, Saturnine|Tremors, Semirhythmic|Tremors, Senile|Tremors, Static|Tremor, Static
D014201||Trematode Infections|Fasciolopsiases|Fasciolopsiasis|Infections, Trematode|Infection, Trematode|Metagonimiases|Metagonimiasis|Trematode Infection
604233|C565809||Generalized Epilepsy With Febrile Seizures Plus, Type 1|GEFS+1|GEFSP1|GEFS, Type 1|GEFS+, TYPE 1
D016862||Tuberculoma, Intracranial|Abscess, Tubercular, Intracranial|Intracranial Tuberculoma|Intracranial Tuberculomas|Tuberculomas, Intracranial
D053706||Typhlitis|Cecitis|Neutropenic Typhlitis|Typhlitis, Neutropenic
C563762|609255||Febrile Convulsions, Familial, 5|Convulsions, Familial Febrile, 5|FEB5|FEBRILE SEIZURES, FAMILIAL, 5|Seizures, Familial Febrile, 5
D004899||Erythroblastosis, Fetal|Erythroblastoses, Fetal|Erythroblastosis Fetali|Erythroblastosis Fetalis|Fetal Erythroblastoses|Fetal Erythroblastosis|Fetali, Erythroblastosis|Fetalis, Erythroblastosis|Hemolytic Disease of Newborn|Newborn Hemolytic Disease|Newborn Hemolytic Diseases
122470|D003635||De Lange Syndrome|Amstelodamensis, Typus Degenerativus|BDLS|Brachmann De Lange Syndrome|Brachmann-De Lange Syndrome|CDL|CDLS|CDLS1|CdLS2|CDLS3|CdLS, X-Linked|Cornelia De Lange Syndrome|Cornelia de Lange Syndrome 1|Cornelia de Lange Syndrome 2|Cornelia de Lange Syndrome 3|Cornelia de Lange Syndrome, X Linked|Cornelia de Lange Syndrome, X-Linked|De Lange&apos;s Syndrome|DE LANGE SYNDROME|Syndrome, Brachmann-De Lange|Syndrome, De Lange|Syndrome, De Lange&apos;s|Typus Degenerativus Amstelodamensis
300428|C563135||Mental Retardation, X-Linked 2|MRX2
D002239||Carbohydrate Metabolism, Inborn Errors|Carbohydrate Metabolism, Inborn Error
187500|D013771||Tetralogy of Fallot|Fallot&apos;s Tetralogy|Fallots Tetralogy|Fallot Tetralogy|Tetralogy, Fallot|Tetralogy, Fallots|Tetralogy, Fallot&apos;s|TOF
D004892||Erythema Multiforme
D003560||Cysts|Cyst
D004891||Erythema Induratum|Bazin Disease|Bazin&apos;s Disease|Bazins Disease|Disease, Bazin|Disease, Bazin&apos;s|Tuberculosis Cutis Indurativa
D004894||Erythrasma
D004893||Erythema Nodosum
D016878||POEMS Syndrome|Crow Fukase Syndrome|Crow-Fukase Syndrome|Organomegalies, Polyneuropathy|Organomegaly, Polyneuropathy|Polyneuropathy Organomegalies|Polyneuropathy Organomegaly|Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, and Skin Changes Syndrome|Syndrome, Crow-Fukase|Syndrome, POEMS|Syndrome, Takatsuki&apos;s|Takatsuki&apos;s Syndrome|Takatsuki Syndrome
D014211||Treponemal Infections|Bejel|Bejels|Infections, Treponemal|Infection, Treponemal|Treponemal Infection
D016870||Neisseriaceae Infections|Infection, Neisseriaceae|Infections, Neisseriaceae|Neisseriaceae Infection
D016871||Pasteurellaceae Infections|Infection, Pasteurellaceae|Infections, Pasteurellaceae|Pasteurellaceae Infection
D016873||Ehrlichiosis|Ehrlichioses
D053717||Pneumonia, Ventilator-Associated|Pneumonia, Ventilator Associated|Ventilator Associated Pneumonia|Ventilator-Associated Pneumonia
D053716||Female Athlete Triad Syndrome|Female Athlete Triad
D053714||Aspermia
D002205||Caplan Syndrome|Caplan&apos;s Syndrome|Caplans Syndrome|Caplan Syndromes
D003536||Cystadenocarcinoma|Cystadenocarcinomas
D003537||Cystadenoma|Cystadenomas
D053718||Scleromyxedema|Lichen Myxedematosus|Mucinosis, Papular|Myxedematosus, Lichen|Papular Mucinosis
D004863||Equinus Deformity|Contracture, Equinus|Contractures, Equinus|Deformities, Equinus|Deformity, Equinus|Equinus Contracture|Equinus Contractures|Equinus Deformities|Talipes Equinus
300257|D052120||Glycogen Storage Disease Type IIb|Antopol Disease|Cardiomyopathies, Glycogen Storage|Cardiomyopathy, Glycogen Storage|Danon Disease|Disease, Antopol|Glycogen Storage Cardiomyopathies|Glycogen Storage Cardiomyopathy|Glycogen Storage Disease IIb|Glycogen Storage Disease Limited to the Heart|Glycogen Storage Disease Type 2B|GSD2B, FORMERLY|GSD IIb, FORMERLY|Lysosomal Glycogen Storage Disease with Normal Acid Maltase|Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency|LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY|Pseudoglycogenosis 2|Pseudoglycogenosis 2s|Pseudoglycogenosis II|Pseudoglycogenosis IIs|Vacuolar Cardiomyopathy and Myopathy, X linked|Vacuolar Cardiomyopathy and Myopathy, X-linked|X Linked Vacuolar Cardiomyopathy and Myopathy|X-Linked Vacuolar Cardiomyopathy and Myopathy
254800|D020194||Unverricht-Lundborg Syndrome|Baltic Myoclonic Epilepsies|Baltic Myoclonic Epilepsy|Baltic Myoclonus|Baltic Myoclonus Epilepsies|Baltic Myoclonus Epilepsy|Diseases, Unverricht|Diseases, Unverricht-Lundborg|Disease, Unverricht|Disease, Unverricht-Lundborg|Epilepsies, Baltic Myoclonic|Epilepsies, Baltic Myoclonus|Epilepsy, Baltic Myoclonic|Epilepsy, Baltic Myoclonus|Epilepsy, Mediterranean Myoclonic|Epilepsy, Progressive Myoclonic 1|Epilepsy, Progressive Myoclonic 1a|Epilepsy, Progressive Myoclonic Type 1|Epilepsy, Progressive Myoclonus 1|EPM1|EPM1A|Lundborg Unverricht Syndrome|Lundborg-Unverricht Syndrome|Mediterranean Myoclonic Epilepsy|Myoclonic Epilepsies, Baltic|Myoclonic Epilepsy, Baltic|Myoclonic Epilepsy, Mediterranean|Myoclonic Epilepsy of Unverricht and Lundborg|Myoclonus, Baltic|Myoclonus Epilepsies, Baltic|Myoclonus Epilepsy, Baltic|Myoclonus Progressive Epilepsy of Unverricht and Lundborg|PME|PROGRESSIVE MYOCLONIC EPILEPSY|Progressive Myoclonus Epilepsy 1|Progressive Myoclonus Epilepsybaltic Myoclonic Epilepsy|Syndrome, Lundborg-Unverricht|Syndrome, Unverricht-Lundborg|ULD|Unverricht Disease|Unverricht Diseases|Unverricht Lundborg Disease|Unverricht-Lundborg Disease|Unverricht-Lundborg Diseases|Unverricht Lundborg Syndrome
611403||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6|ASRT6
D016849||Keratitis, Herpetic|Herpes Simplex Keratitides|Herpes Simplex Keratitis|Herpes Simplex, Ocular|Herpetic Keratitides|Herpetic Keratitis|Keratitides, Herpes Simplex|Keratitides, Herpetic|Keratitis, Herpes Simplex|Ocular Herpes Simplex
C567832|612997||Spermatogenic Failure 7|Male Infertility, Nonsyndromic, Autosomal Recessive|MIAR|SPGF7
D053713||Azoospermia
D015511||Goat Diseases|Caprine Disease|Caprine Diseases|Disease, Caprine|Disease, Goat|Diseases, Caprine|Diseases, Goat|Goat Disease
161200|D009261||Nail-Patella Syndrome|Disease, Fong|Fong Disease|Hereditary Onycho-Osteodysplasia|Hereditary Osteo-Onychodysplasia|Hereditary Osteo-Onychodysplasias|Nail Patella Syndrome|NPS|NPS1|Onychoosteodysplasia|Osteo Onychodysplasia, Hereditary|Osteo-Onychodysplasia, Hereditary|Osteo-Onychodysplasias, Hereditary|Osterreicher Syndrome|Pelvic Horn Syndrome|Syndrome, Nail-Patella|Syndrome, Osterreicher|Syndrome, Pelvic Horn|Syndrome, Turner-Kieser|Turner Kieser Syndrome|Turner-Kieser Syndrome
167960||HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2|HPV18I2|PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
D015526||AIDS Dementia Complex|Acquired-Immune Deficiency Syndrome Dementia Complex|AIDS Encephalopathies|AIDS Encephalopathy|AIDS Related Dementia Complex|AIDS-Related Dementia Complex|Complex, AIDS Dementia|Complex, AIDS-Related Dementia|Dementia Complex, Acquired Immune Deficiency Syndrome|Dementia Complex, AIDS|Dementia Complex, AIDS Related|Dementia Complex, AIDS-Related|Dementia, HIV|Dementias, HIV|Encephalopathies, AIDS|Encephalopathies, HIV|Encephalopathy, AIDS|Encephalopathy, HIV|HIV 1 Associated Cognitive Motor Complex|HIV-1-Associated Cognitive Motor Complex|HIV 1 Cognitive and Motor Complex|HIV-1 Cognitive and Motor Complex|HIV Associated Cognitive Motor Complex|HIV-Associated Cognitive Motor Complex|HIV Dementia|HIV Dementias|HIV Encephalopathies|HIV Encephalopathy
C565058|130600||Elliptocytosis 2|EL2|Elliptocytosis, Rhesus-Unlinked Type
D016857||Hypocapnia|Hypocapnias
255200||MYOPATHY, CENTRONUCLEAR, 2|CNM2|MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE|MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE
D015529||Choledochal Cyst|Bile Duct Cyst|Bile Duct Cysts|Choledochal Cyst, Congenital|Choledochal Cyst, Diverticulum|Choledochal Cyst, Intrahepatic|Choledochal Cyst, Multiple|Choledochal Cysts|Choledochal Cysts, Congenital|Choledochal Cysts, Diverticulum|Choledochal Cysts, Intrahepatic|Choledochal Cysts, Multiple|Choledochal Cyst, Type I|Choledochal Cyst, Type II|Choledochal Cyst, Type III|Choledochal Cyst, Type IV|Choledochal Cyst, Type V|Choledochal Diverticulum|Choledochal Diverticulums|Choledochocele|Choledochoceles|Common Bile Duct Cyst|Congenital Choledochal Cyst|Congenital Choledochal Cysts|Cyst, Bile Duct|Cyst, Choledochal|Cyst, Common Bile Duct|Cyst, Congenital Choledochal|Cyst, Intrahepatic Choledochal|Cyst, Multiple Choledochal|Cysts, Bile Duct|Cysts, Choledochal|Cysts, Common Bile Duct|Cysts, Congenital Choledochal|Cysts, Intrahepatic Choledochal|Cysts, Multiple Choledochal|Diverticulum, Choledochal|Diverticulum Choledochal Cyst|Diverticulum Choledochal Cysts|Diverticulums, Choledochal|Duct Cyst, Bile|Duct Cysts, Bile|Intrahepatic Choledochal Cyst|Intrahepatic Choledochal Cysts|Multiple Choledochal Cyst|Multiple Choledochal Cysts
D015524||Sphenoid Sinusitis|Sinusitides, Sphenoid|Sinusitides, Sphenoidal|Sinusitis, Sphenoid|Sinusitis, Sphenoidal|Sphenoidal Sinusitides|Sphenoidal Sinusitis|Sphenoid Sinusitides
C567065|300660||Leukoencephalopathy With Metaphyseal Chondrodysplasia|Lkmcd
D015523||Maxillary Sinusitis|Maxillary Sinusitides|Sinusitides, Maxillary|Sinusitis, Maxillary
D015522||Frontal Sinusitis|Frontal Sinusitides|Sinusitides, Frontal|Sinusitis, Frontal
D015521||Ethmoid Sinusitis|Ethmoidal Sinusitides|Ethmoidal Sinusitis|Ethmoid Sinusitides|Sinusitides, Ethmoid|Sinusitides, Ethmoidal|Sinusitis, Ethmoid|Sinusitis, Ethmoidal
C536780||T cell immunodeficiency primary|Primary T-Cell Immunodeficiency Disorders
C567595|300455||Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
C535450||Chromosome 13p duplication|Chromosome 13p, trisomy|Duplication 13p|Trisomy 13p
C536784||Tabatznik syndrome|Heart-hand syndrome 2
D020096||Zygomycosis|Entomophthoramycoses|Entomophthoramycosis|Phycomycoses|Phycomycosis|Zygomycoses
D004844||Epistaxis|Bleeding, Nasal|Bleedings, Nasal|Nasal Bleeding|Nasal Bleedings|Nosebleed|Nose Bleed|Nose Bleeds
C536782||T-cell lymphoma 1A
C536105|608908||Myopia 6|Myopia, susceptibility to|MYP6
C535454||Chromosome 9, trisomy mosaic|Trisomy 9 mosaic|Trisomy 9 mosaicism|Uniparental disomy of 9
C536783||T-Lymphocytopenia
C537533|210600||Seckel syndrome 1|Bird-headed dwarfism|Microcephalic primordial dwarfism 1|Microcephalic Primordial Dwarfism I|Nanocephalic dwarfism|SCKL|SCKL1|Seckel-type dwarfism
C535453||Chromosome 9, trisomy 9q32|Duplication 9q32|Trisomy 9q32
C563335|601369||Deafness, Autosomal Dominant 9|DFNA9
D004842||Epispadias|Epispadia
C567654|613286||Cardiomyopathy, Dilated, 1FF|CMD1FF
D010661|261600||Phenylketonurias|Atypical Phenylketonuria|Atypical PKU|BH4 Deficiency|Classical Phenylketonuria|Deficiency, BH4|Deficiency, DHPR|Deficiency, Dihydropteridine Reductase|Deficiency Disease, Dihydropteridine Reductase|Deficiency Disease, Phenylalanine Hydroxylase|Deficiency Disease, Phenylalanine Hydroxylase, Severe|Deficiency, PAH|Deficiency, Phenylalanine Hydroxylase|Deficiency, QDPR|Deficiency, Tetrahydrobiopterin|DHPR Deficiency|Dihydropteridine Reductase Deficiency|Dihydropteridine Reductase Deficiency Disease|Disease, Folling|Disease, Folling&apos;s|Folling Disease|FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED|Folling&apos;s Disease|HPABH4C|HPA, NON-PKU MILD, INCLUDED|Hyperphenylalaninaemia|Hyperphenylalaninemia, BH4-Deficient, C|Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism|Hyperphenylalaninemia, Non Phenylketonuric|Hyperphenylalaninemia, Non-Phenylketonuric|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency|Non Phenylketonuric Hyperphenylalaninemia|Non-Phenylketonuric Hyperphenylalaninemia|Non-Phenylketonuric Hyperphenylalaninemias|Oligophrenia Phenylpyruvica|PAH Deficiency|Phenylalanine Hydroxylase Deficiency|Phenylalanine Hydroxylase Deficiency Disease|Phenylalanine Hydroxylase Deficiency Disease, Severe|Phenylketonuria|Phenylketonuria, Atypical|Phenylketonuria, Classical|Phenylketonuria I|Phenylketonuria II|PHENYLKETONURIA, MATERNAL, INCLUDED|Phenylketonuria Type 2|PKU|PKU, Atypical|QDPR Deficiency|Quinoid Dihydropteridine Reductase Deficiency|Tetrahydrobiopterin Deficiency
304110|C536456||Craniofrontonasal dysplasia|CFND|CFNS|Craniofrontonasal dysostosis|CRANIOFRONTONASAL DYSPLASIA|Craniofrontonasal syndrome
C536777||Systemic candidiasis|Systemic candida infections
C573722||Acrocephalopolydactylous Dysplasia|Elejalde syndrome
C538243|301200||Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1|AI1E|AIH1|AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH|AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1|AMELOGENESIS IMPERFECTA, TYPE IE|Amelogenesis imperfecta, X-linked 1|ENAMEL HYPOPLASIA, X-LINKED
C536775||Syphilitic aseptic meningitis|Meningeal syphilis|Meningitis, syphilitic|Syphilitic meningitis
C564567|300209||Simpson-Golabi-Behmel Syndrome, Type 2|SGBS2
C536776||Syphilitic myelopathy (tabes dorsalis)
250950|C562801||3-Methylglutaconic Aciduria, Type I|3-Methylglutaconyl-CoA Hydratase Deficiency|3-Mg-CoA-Hydratase Deficiency|MGA1|MGA, Type I|MGCA1
C535449||Deletion 13q syndrome, partial|13q- syndrome, partial|Chromosome 13, partial monosomy 13q|Monosomy 13q, partial|Partial monosomy of the long arm of chromosome 13
300577|C564482||Mental Retardation, X-Linked 91|MRX91
C535448||Bird headed dwarfism Montreal type|Bird-Headed Dwarfism, Montreal Type|Bird-headed dwarfism with features of premature senility
C536779||Systemic necrotizing angiitis|Systemic necrotizing angitis
D003528||Carcinoma, Adenoid Cystic|Adenocystic Carcinoma|Adenocystic Carcinomas|Adenoid Cystic Carcinoma|Adenoid Cystic Carcinomas|Carcinoma, Adenocystic|Carcinomas, Adenocystic|Carcinomas, Adenoid Cystic|Cylindroma|Cylindromas|Cystic Carcinoma, Adenoid|Cystic Carcinomas, Adenoid
D004859||Equine Infectious Anemia|Anemia, Equine Infectious|Anemias, Equine Infectious|Equine Infectious Anemias|Fevers, Swamp|Fever, Swamp|Infectious Anemia, Equine|Infectious Anemias, Equine|Swamp Fever|Swamp Fevers
C563845|608837||Carney Complex Variant
C536790||Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus|Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus
C536795||Chromosome 22 ring|Ring 22, Chromosome
C535463||Mainzer-Saldino Disease|Conorenal Syndrome|Mainzer-Saldino Syndrome|Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|Saldino-Mainzer disease
C536796||Trisomy 22 mosaicism syndrome|Chromosome 22 trisomy mosaic|Trisomy 22 mosaic|Trisomy mosaic 22|Uniparental disomy of 22
C536793||Chromosome 21, tetrasomy 21q|Tetrasomy 21q
C567320|612394||Bone Fragility with Contractures, Arterial Rupture, and Deafness|LH3 Deficiency|Lysyl Hydroxylase 3 Deficiency
C535465||Contractures ectodermal dysplasia cleft lip palate|Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
D020083||Acquired Hyperostosis Syndrome|Acquired Hyperostosis Syndromes|Hyperostosis Syndrome, Acquired|Hyperostosis Syndromes, Acquired|SAPHO Syndrome|SAPHO Syndromes|Syndrome, Acquired Hyperostosis|Syndromes, Acquired Hyperostosis|Syndrome, SAPHO|Syndromes, SAPHO|Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis
C536794||Chromosome 21, uniparental disomy of|Mosaic trisomy 21|Uniparental disomy of 21
D003527||Cyclothymic Disorder|Cyclothymic Disorders|Cyclothymic Personalities|Cyclothymic Personality|Disorder, Cyclothymic|Disorders, Cyclothymic|Personalities, Cyclothymic|Personality, Cyclothymic
C535464||Conotruncal cardiac defects|Conotruncal heart malformations|Truncus arteriosus communis
300640|C564468||Invasive Pneumococcal Disease, Recurrent Isolated, 2|IPD2
C563989|610951||Ceroid Lipofuscinosis, Neuronal, 7|CLN7
612703||MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE|MCPH7
D041761||Cholecystolithiasis
153480|D006223||Hamartoma Syndrome, Multiple|Bannayan Riley Ruvalcaba Syndrome|Bannayan-Riley-Ruvalcaba Syndrome|Bannayan-Ruvalcaba-Riley Syndrome|Bannayan Zonana Syndrome|Bannayan-Zonana Syndrome|BRRS|BZS|CD|CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED|CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED|Cerebellum Dysplastic Gangliocytoma|Cerebellum Dysplastic Gangliocytomas|Cowden Disease|Cowden&apos;s Disease|Cowdens Disease|Cowden&apos;s Syndrome|Cowdens Syndrome|Cowden Syndrome|COWDEN SYNDROME 1|CPD6, INCLUDED|CS|CWS1|Dysplastic Gangliocytoma of Cerebellum|Dysplastic Gangliocytoma of the Cerebellum|Hamartoma Syndromes, Multiple|LDD, INCLUDED|Lhermitte Duclos Disease|Lhermitte-Duclos Disease|LHERMITTE-DUCLOS DISEASE, INCLUDED|Macrocephaly, Multiple Lipomas, and Hemangiomata|Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas|Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata|Multiple Hamartoma Syndrome|MULTIPLE HAMARTOMA SYNDROME;MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED|Multiple Hamartoma Syndromes|Myhre Riley Smith Syndrome|Myhre-Riley-Smith Syndrome|PROTEUS-LIKE SYNDROME, INCLUDED|PTEN Hamartoma Tumor Syndrome|Riley Smith Syndrome|Riley-Smith Syndrome|RMSS|Ruvalcaba Myhre Smith Syndrome|Ruvalcaba-Myhre-Smith Syndrome|Ruvalcaba-Myhre Syndrome
D004402|223900||Dysautonomia, Familial|Dominant Hereditary Sensory Neuropathy, Type III|DYS|DYSAUTONOMIA, FAMILIAL|Familial Dysautonomia|FD|Hereditary Sensory and Autonomic Neuropathy 3|Hereditary Sensory and Autonomic Neuropathy Type III|Hereditary-Sensory and Autonomic Neuropathy Type III|Hereditary Sensory Neuropathy, Dominant, Type 3|Hereditary Sensory Neuropathy, Dominant, Type III|Hereditary Sensory Neuropathy Type 3|Hereditary Sensory Neuropathy, Type 3, Dominant|HSAN3|HSAN 3|HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III|HSAN III|HSAN Type III|HSN-III|Neuropathy, Hereditary and Autonomic, Type III|Neuropathy, Hereditary Sensory And Autonomic, Type Iii|Riley Day Syndrome|Riley-Day Syndrome|Type 3 Hereditary Sensory Neuropathy, Dominant|Type III Hereditary Sensory Neuropathy, Dominant
D015508||Nasal Obstruction|Airway Obstruction, Nasal|Bilateral Nasal Obstruction|Blockage, Nasal|Blockages, Nasal|Nasal Airway Obstruction|Nasal Blockage|Nasal Blockages|Nasal Obstruction, Bilateral|Nasal Obstruction, Unilateral|Obstruction, Bilateral Nasal|Obstruction, Nasal|Obstruction, Nasal Airway|Obstructions, Nasal|Unilateral Nasal Obstruction
C535455||Chromosomes 1 and 2, monosomy 2q duplication 1p|Deletion 2q duplication 1p|Monosomy 2q duplication 1p
C536786||Athabaskan severe combined immunodeficiency
C535458||Chudley-Rozdilsky syndrome|Chudley Rozdilsky syndrome|Chudley syndrome
D004827||Epilepsy|Aura|Auras|Awakening Epilepsy|Cryptogenic Epilepsies|Cryptogenic Epilepsy|Epilepsies|Epilepsies, Cryptogenic|Epilepsy, Awakening|Epilepsy, Cryptogenic|Epileptic Seizure|Epileptic Seizures|Seizure Disorder|Seizure Disorders|Seizure, Epileptic|Seizures, Epileptic|Seizure, Single|Seizures, Single|Single Seizure|Single Seizures
C535470||CoQ-responsive OXPHOS deficiency
D020078||Neurogenic Inflammation|Inflammation, Neurogenic|Inflammations, Neurogenic|Neurogenic Inflammations
D004826||Epiglottitis|Epiglottitides
D004829||Epilepsy, Generalized|Akinetic Epilepsies|Akinetic Epilepsy|Atonic Epilepsies|Atonic Epilepsy|Convulsive Epilepsies, Generalized|Convulsive Epilepsy, Generalized|Convulsive Generalized Seizure Disorder|Convulsive Seizure Disorder, Generalized|Epilepsies, Akinetic|Epilepsies, Atonic|Epilepsies, Generalized|Epilepsies, Generalized Convulsive|Epilepsies, Tonic|Epilepsy, Akinetic|Epilepsy, Atonic|Epilepsy, Generalized Convulsive|Epilepsy, Generalized Nonconvulsive|Epilepsy, Symptomatic Generalized|Epilepsy, Tonic|Generalized Convulsive Epilepsies|Generalized Convulsive Epilepsy|Generalized Epilepsies|Generalized Epilepsy|Generalized Epilepsy, Symptomatic|Generalized Nonconvulsive Epilepsy|Generalized Nonconvulsive Seizure Disorder|Generalized Onset Seizure Disorder|Generalized Seizure Disorder|Generalized Seizure Disorder, Convulsive|Generalized Seizure Disorder, Nonconvulsive|Generalized Seizure Disorders|Nonconvulsive Epilepsy, Generalized|Nonconvulsive Generalized Seizure Disorder|Nonconvulsive Seizure Disorder, Generalized|Seizure Disorder, Convulsive, Generalized|Seizure Disorder, Generalized|Seizure Disorder, Generalized, Convulsive|Seizure Disorder, Generalized Nonconvulsive|Seizure Disorder, Generalized Onset|Seizure Disorder, Nonconvulsive Generalized|Seizure Disorders, Generalized|Symptomatic Generalized Epilepsy|Tonic Epilepsies|Tonic Epilepsy
C537608|600121||Rhizomelic chondrodysplasia punctata, type 3|AGPS deficiency|Alkyldihydroxyacetonephosphate synthase deficiency|Alkylglycerone-Phosphate Synthase Deficiency|RCDP3
C535472||Corneal cerebellar syndrome|Corneal-Cerebellar Syndrome|Corneal dystrophy with spinocerebellar degeneration|Der kaloustian Jarudi Khoury syndrome|Spinocerebellar degeneration and corneal dystrophy
D004828||Epilepsies, Partial|Abdominal Epilepsies|Abdominal Epilepsy|Amygdalo-Hippocampal Epilepsies|Amygdalo-Hippocampal Epilepsy|Benign Focal Epilepsy, Childhood|Benign Occipital Epilepsies|Benign Occipital Epilepsy|Benign Occipital Epilepsy, Childhood|Childhood Benign Focal Epilepsy|Childhood Benign Occipital Epilepsy|Digestive Epilepsies|Digestive Epilepsy|Disorders, Focal Seizure|Disorders, Partial Seizure|Epilepsies, Abdominal|Epilepsies, Amygdalo-Hippocampal|Epilepsies, Benign Occipital|Epilepsies, Digestive|Epilepsies, Focal|Epilepsies, Gelastic|Epilepsies, Localization-Related|Epilepsies, Occipital Lobe|Epilepsies, Rhinencephalic|Epilepsies, Simple Partial|Epilepsy, Abdominal|Epilepsy, Benign Occipital|Epilepsy, Focal|Epilepsy, Localization-Related|Epilepsy, Partial|Epilepsy, Simple Partial|Focal Epilepsies|Focal Epilepsy|Focal Seizure Disorder|Focal Seizure Disorders|Gelastic Epilepsies|Gelastic Epilepsy|Lobe Epilepsy, Occipital|Localization-Related Epilepsies|Localization-Related Epilepsy|Occipital Epilepsies, Benign|Occipital Epilepsy, Benign|Occipital Lobe Epilepsies|Occipital Lobe Epilepsy|Partial Epilepsies|Partial Epilepsies, Simple|Partial Epilepsy|Partial Seizure Disorder|Partial Seizure Disorders|Partial Seizures, Simple|Partial Seizures, Simple, Consciousness Preserved|Rhinencephalic Epilepsies|Rhinencephalic Epilepsy|Seizure Disorder, Focal|Seizure Disorder, Partial|Seizure Disorders, Focal|Seizure Disorders, Partial|Seizures, Simple Partial|Seizures, Subclinical|Seizure, Subclinical|Seizures, Uncinate|Seizure, Uncinate|Simple Partial Epilepsies|Simple Partial Seizures|Subclinical Seizure|Subclinical Seizures|Uncinate Seizures
C535471||Cornea guttata with anterior polar cataract|Cornea Guttata with Anterior Polar Cataracts|Familial congenital cornea guttata with anterior polar cataracts
D004823||Epididymitis|Epididymitides
120435|C537261||Lynch syndrome I (site-specific colonic cancer)|COCA1 LYNCH SYNDROME II, INCLUDED|COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1|COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1|FCC1|HNPCC1|LYNCH SYNDROME I
C536254|266100||Pyridoxine-dependent epilepsy|Aasa Dehydrogenase Deficiency|EPD|Epilepsy, Pyridoxine-Dependent|PDE|Pyridoxine dependency|Pyridoxine dependency with seizures|PYRIDOXINE-DEPENDENT EPILEPSY|Pyridoxine-Dependent Seizures|Vitamin B6-Dependent Seizures
D019080||Cafe-au-Lait Spots|Cafe-au-Lait Spot|Cafe au Lait Spots|Spot, Cafe-au-Lait|Spots, Cafe-au-Lait
D004820||Epidermolysis Bullosa|Acantholysis Bullosa
C535443|235555||Bile acid synthesis defect, congenital, 2|CBAS2|Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|Congenital Bile Acid Synthesis Defect Type 2 (CBAS2)
D064419||Chemically-Induced Disorders|Chemically-Induced Disorder|Chemically Induced Disorders|Disorder, Chemically-Induced|Disorders, Chemically-Induced
C535737|602473||Ethylmalonic encephalopathy|EE|Encephalopathy, ethylmalonic|Encephalopathy, Petechiae, and Ethylmalonic Aciduria|Epema Syndrome|Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
C567310|612444||Ciliary Dyskinesia, Primary, 9|CILD9|Ciliary Dyskinesia, Primary, 9, With Or Without Situs Inversus
C536799||Chromosome 22, trisomy|Duplication 22|Trisomy 22
C562626|130080||Ehlers-Danlos Syndrome, Type VIII|EDS8|EDS VIII|Ehlers-Danlos Syndrome, Periodontitis Type|Ehlers-Danlos Syndrome, Periodontosis Type
C536296|609583||Joubert syndrome 4|JBTS4
C535466||Convulsions benign familial neonatal dominant form|Autosomal dominant form of benign neonatal seizures|Autosomal dominant spheroid body myopathy|Benign familial neonatal seizures|Convulsions, Benign Familial Neonatal, 2|Epilepsy, Benign Neonatal, 2|Seizures, Benign Familial Neonatal|Spheroid body myopathy
C536797||Chromosome 22, microdeletion 22 q11|Microdeletion 22 q11
C535469||Coproporphyria|Hereditary coproporphyria porphyria|Porphyria Hepatica, Coproporphyria|Porphyria hepatica II
C536798||Chromosome 22, monosome mosaic|Chromosome 22 mosaic monosomy|Mosaic Monosome 22
C535468||Copper deficiency, familial benign|Familial benign copper deficiency|Familial benign hypocupremia
C563788|609141||Corneal Dystrophy, Posterior Polymorphous, 3|PPCD3
C535481||Fraser Jequier Chen syndrome
D020065||Hepatopulmonary Syndrome|Hepato Pulmonary Syndrome|Hepato-Pulmonary Syndrome|Hepatopulmonary Syndromes|Hepato-Pulmonary Syndromes|Syndrome, Hepatopulmonary|Syndrome, Hepato-Pulmonary|Syndromes, Hepatopulmonary|Syndromes, Hepato-Pulmonary
D004839||Epiphyses, Slipped|Epiphysiolyses|Epiphysiolysis|Slipped Epiphyses
D052439||Lipid Metabolism Disorders|Lipid Metabolism Disorder|Metabolism Disorder, Lipid|Metabolism Disorders, Lipid
D041781||Jaundice, Obstructive|Cholestatic Jaundice|Jaundice, Cholestatic|Jaundice, Mechanical|Mechanical Jaundice|Obstructive Jaundice
D004834||Epilepsy, Post-Traumatic|Concussive Convulsion|Concussive Convulsions|Convulsion, Concussive|Convulsions, Concussive|Disorder, Post-Traumatic Seizure|Disorders, Post-Traumatic Seizure|Early Post-Traumatic Seizure|Early Post Traumatic Seizures|Early Post-Traumatic Seizures|Epilepsies, Post-Traumatic|Epilepsies, Traumatic|Epilepsy, Post Traumatic|Epilepsy, Traumatic|Impact Seizure|Impact Seizures|Late Post-Traumatic Seizure|Late Post Traumatic Seizures|Late Post-Traumatic Seizures|Post-Traumatic Epilepsies|Post-Traumatic Epilepsy|Post Traumatic Seizure Disorder|Post-Traumatic Seizure Disorder|Post-Traumatic Seizure Disorders|Post-Traumatic Seizure, Early|Post-Traumatic Seizure, Late|Post-Traumatic Seizures, Early|Post-Traumatic Seizures, Late|Seizure Disorder, Post Traumatic|Seizure Disorder, Post-Traumatic|Seizure Disorders, Post-Traumatic|Seizure, Early Post-Traumatic|Seizure, Late Post-Traumatic|Seizures, Early Post-Traumatic|Seizures, Late Post-Traumatic|Traumatic Epilepsies|Traumatic Epilepsy
C535485||Chromosome 13q trisomy|Duplication 13q|Trisomy 13q
D004833||Epilepsy, Temporal Lobe|Benign Psychomotor Epilepsy, Childhood|Childhood Benign Psychomotor Epilepsy|Epilepsies, Lateral Temporal|Epilepsies, Temporal Lobe|Epilepsies, Uncinate|Epilepsy, Benign Psychomotor, Childhood|Epilepsy, Lateral Temporal|Epilepsy, Uncinate|Lateral Temporal Epilepsies|Lateral Temporal Epilepsy|Temporal Lobe Epilepsies|Temporal Lobe Epilepsy|Uncinate Epilepsies|Uncinate Epilepsy
C535484||13q deletion syndrome|Chromosome 13q deletion|Chromosome 13q deletion syndrome|Chromosome 13q monosomy|Chromosome 13q syndrome|Deletion 13q|Deletion 13q syndrome|Monosomy 13q|Monosomy 13q syndrome|Orbeli&apos;s syndrome|Orbeli syndrome
C535487||Ring Chromosome 14 Syndrome|Chromosome 14 ring|Ring 14|Ring 14 Syndrome|Ring Chromosome 14
C535486||Chromosome 13q-mosaicism|Mosiacism of chromosome 13q
D004830||Epilepsy, Tonic-Clonic|Convulsion Disorders, Tonic-Clonic|Convulsion Disorder, Tonic-Clonic|Convulsion, Grand Mal|Convulsions, Grand Mal|Convulsions, Tonic Clonic|Convulsion Syndromes, Tonic-Clonic|Convulsion Syndrome, Tonic-Clonic|Convulsion, Tonic Clonic|Cryptogenic Tonic-Clonic Epilepsies|Cryptogenic Tonic Clonic Epilepsy|Cryptogenic Tonic-Clonic Epilepsy|Disorders, Tonic-Clonic Convulsion|Disorders, Tonic-Clonic Seizure|Disorder, Tonic-Clonic Convulsion|Disorder, Tonic-Clonic Seizure|Epilepsies, Cryptogenic Tonic-Clonic|Epilepsies, Familial Tonic-Clonic|Epilepsies, Symptomatic Tonic-Clonic|Epilepsies, Tonic-Clonic|Epilepsy, Cryptogenic Tonic-Clonic|Epilepsy, Familial Tonic-Clonic|Epilepsy, Grand Mal|Epilepsy, Major|Epilepsy, Symptomatic Tonic-Clonic|Epilepsy, Tonic Clonic|Epilepsy, Tonic-Clonic, Cryptogenic|Epilepsy, Tonic-Clonic, Familial|Epilepsy, Tonic-Clonic, Symptomatic|Familial Tonic-Clonic Epilepsies|Familial Tonic Clonic Epilepsy|Familial Tonic-Clonic Epilepsy|Grand Mal Convulsion|Grand Mal Convulsions|Grand Mal Epilepsy|Grand Mal Seizure Disorder|Major Epilepsies|Major Epilepsy|Major Motor Seizure Disorder|Seizure Disorder, Grand Mal|Seizure Disorder, Major Motor|Seizure Disorders, Tonic-Clonic|Seizure Disorder, Tonic Clonic|Seizure Disorder, Tonic-Clonic|Seizure Syndromes, Tonic-Clonic|Seizure Syndrome, Tonic-Clonic|Symptomatic Tonic-Clonic Epilepsies|Symptomatic Tonic Clonic Epilepsy|Symptomatic Tonic-Clonic Epilepsy|Syndromes, Tonic-Clonic Convulsion|Syndromes, Tonic-Clonic Seizure|Syndrome, Tonic-Clonic Convulsion|Syndrome, Tonic-Clonic Seizure|Tonic Clonic Convulsion|Tonic Clonic Convulsion Disorder|Tonic-Clonic Convulsion Disorder|Tonic-Clonic Convulsion Disorders|Tonic Clonic Convulsions|Tonic Clonic Convulsion Syndrome|Tonic-Clonic Convulsion Syndrome|Tonic-Clonic Convulsion Syndromes|Tonic-Clonic Epilepsies|Tonic-Clonic Epilepsies, Cryptogenic|Tonic-Clonic Epilepsies, Familial|Tonic-Clonic Epilepsies, Symptomatic|Tonic-Clonic Epilepsy|Tonic-Clonic Epilepsy, Cryptogenic|Tonic-Clonic Epilepsy, Familial|Tonic-Clonic Epilepsy, Symptomatic|Tonic Clonic Seizure Disorder|Tonic-Clonic Seizure Disorder|Tonic-Clonic Seizure Disorders|Tonic Clonic Seizure Syndrome|Tonic-Clonic Seizure Syndrome|Tonic-Clonic Seizure Syndromes
D020069||Shoulder Pain|Pain, Shoulder|Pains, Shoulder|Shoulder Pains
612566|C567252||Inflammatory Bowel Disease 24|IBD24
204650|C567147||Amelogenesis Imperfecta, Type Ic|AI1C|Amelogenesis Imperfecta, Hypoplastic, With Or Without Openbite Malocclusion, Autosomal Recessive|Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive
607017|C564634||Deafness, Autosomal Dominant 21|DFNA21
204700|C538242||Amelogenesis imperfecta pigmented hypomaturation type|AI2A1|AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1|AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1
C563835|608902||Drug Metabolism, Poor, CYP2D6-Related|CODEINE, ULTRARAPID METABOLISM OF, INCLUDED|DEBRISOQUINE, POOR METABOLISM OF, INCLUDED|DEBRISOQUINE, ULTRARAPID METABOLISM OF, INCLUDED|DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED|NORTRIPTYLINE, POOR METABOLISM OF, INCLUDED|SPARTEINE, POOR METABOLISM OF, INCLUDED
106600|D000848||Anodontia|HYD1|Hypodontia|Hypodontia/Oligodontia 1|HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT, INCLUDED|SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF|STHAG1|Tooth Agenesis, Familial|TOOTH AGENESIS, FAMILIAL TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT, INCLUDED|Tooth Agenesis, Selective, 1
D019066||Facies
C535444|214950||Bile acid synthesis defect, congenital, 4|Cbas4|Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|Trihydroxycoprostanic acid in bile
D004806||Ependymoma|Anaplastic Ependymoma|Anaplastic Ependymomas|Cellular Ependymoma|Clear Cell Ependymoma|Ependymoma, Anaplastic|Ependymoma, Myxopapillary|Ependymoma, Papillary|Ependymomas|Ependymomas, Anaplastic|Ependymomas, Myxopapillary|Ependymomas, Papillary|Myxopapillary Ependymoma|Myxopapillary Ependymomas|Papillary Ependymoma|Papillary Ependymomas
C536741||Wolffian tumor|Female adnexal tumor of probable Wolffian origin|Wolffian adenoma|Wolffian adnexal tumor
C567845|612951||Leukoencephalopathy, Cystic, Without Megalencephaly
D004803||Eosinophilic Granuloma|Eosinophilic Granulomas|Granuloma, Eosinophilic|Granulomas, Eosinophilic
D004802||Eosinophilia|Eosinophilias|Eosinophilias, Tropical|Eosinophilia, Tropical|Tropical Eosinophilia|Tropical Eosinophilias
C563418|600971||Deafness, Autosomal Recessive 6|DFNB6|Neurosensory Nonsyndromic Recessive Deafness 6|NSRD6
C563858|608787||Otosclerosis 5|OTSC5
D007088||Illusions|Auditory Illusion|Auditory Illusions|Autokinetic Effect|Autokinetic Effects|Autokinetic Illusion|Autokinetic Illusions|Effect, Autokinetic|Effects, Autokinetic|Illusion|Illusion, Auditory|Illusion, Autokinetic|Illusion, Kinesthetic|Illusions, Auditory|Illusions, Autokinetic|Illusions, Kinesthetic|Illusions, Tactile|Illusions, Visual|Illusion, Tactile|Illusion, Visual|Kinesthetic Illusion|Kinesthetic Illusions|Tactile Illusion|Tactile Illusions|Visual Illusion|Visual Illusions
607791|C564333||Charcot-Marie-Tooth Disease, Dominant Intermediate D|Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D|CMTDID|DI-CMTD
C536733||X chromosome, trisomy Xq25|Duplication Xq25|Trisomy Xq25
C535401||Charcot-Marie-Tooth disease, dominant intermediate 3
C535400||Charcot-Marie-Tooth disease, dominant intermediate 2
C536731||X chromosome, trisomy Xpter Xq13|Duplication Xpter Xq13|Trisomy Xpter Xq13
C536732||Chromosome Xq duplication syndrome|Chromosome Xq trisomy|Duplication Xq|Dup(Xq) syndrome|Trisomy Xq|X chromosome, trisomy Xq
C535402||Galactorrhea-Hyperprolactinemia|Galactorrhoea-Hyperprolactinaemia
C535607|225750||Aicardi-Goutieres syndrome|AGS|AGS1|AGS2|Aicardi Goutieres syndrome|Aicardi-Goutieres Syndrome 1|Aicardi-Goutieres Syndrome 2|Cree Encephalitis|ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS|Encephalopathy with Basal Ganglia Calcification|Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis|Pseudo-TORCH syndrome|Pseudotoxoplasmosis syndrome|PSEUDOTOXOPLASMOSIS SYNDROME AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED
C536735||Winter Shortland Temple syndrome|Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development|Curry Jones syndrome|Curry-Jones Syndrome
226900|C535504||Epiphyseal dysplasia, multiple, 4|Autosomal recessive multiple epiphyseal dysplasia|EDM4|Multiple epiphyseal dysplasia 4|Multiple epiphyseal dysplasia, autosomal recessive|Multiple epiphyseal dysplasia with bilayered patellae|Multiple epiphyseal dysplasia with clubfoot|Multiple epiphyseal dysplasia with double-layered patella
C535406||Game Friedman Paradice syndrome|Hydrocephalus with associated malformations
D004818||Epidermitis, Exudative, of Swine|Disease, Greasy Pig|Epidermitis, Exudative of Swine|Exudative Dermatitis of Swine|Greasy Pig Disease|Swine Exudative Dermatitides|Swine Exudative Dermatitis
D020042||Histiocytic Necrotizing Lymphadenitis|Disease, Kikuchi|Disease, Kikuchi-Fujimoto|Disease, Kikuchi-Fujimoto&apos;s|Disease, Kikuchi&apos;s|Histiocytic Necrotising Lymphadenitides|Histiocytic Necrotising Lymphadenitis|Kikuchi Disease|Kikuchi Fujimoto Disease|Kikuchi-Fujimoto Disease|Kikuchi Fujimoto&apos;s Disease|Kikuchi-Fujimoto&apos;s Disease|Kikuchi-Fujimotos Disease|Kikuchi Necrotizing Lymphadenitis|Kikuchi&apos;s Disease|Kikuchis Disease|Kikuchi&apos;s Disease, Nosocomial|Lymphadenitides, Histiocytic Necrotising|Lymphadenitis, Histiocytic Necrotising|Lymphadenitis, Histiocytic Necrotizing|Lymphadenitis, Kikuchi Necrotizing|Necrotising Lymphadenitides, Histiocytic|Necrotising Lymphadenitis, Histiocytic|Necrotizing Lymphadenitis, Histiocytic|Necrotizing Lymphadenitis, Kikuchi|Nosocomial Kikuchi Disease|Nosocomial Kikuchi&apos;s Disease|Nosocomial Kikuchis Disease
C536751||WT limb blood syndrome|Radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WT Limb-Blood Syndrome
C536752||Wyburn Mason&apos;s syndrome|Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes|Wyburn Mason syndrome
D004814||Epidermal Cyst|Cyst, Epidermal|Cyst, Epidermoid|Cyst, Pilar|Cyst, Sebaceous|Cysts, Epidermal|Cysts, Epidermoid|Cysts, Pilar|Cysts, Sebaceous|Epidermal Cysts|Epidermoid Cyst|Epidermoid Cysts|Pilar Cyst|Pilar Cysts|Sebaceous Cyst|Sebaceous Cysts
C567641|613328||Roifman-Chitayat Syndrome|Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, And Developmental Delay
D064420||Drug-Related Side Effects and Adverse Reactions|Adverse Drug Event|Adverse Drug Events|Adverse Drug Reaction|Adverse Drug Reactions|Drug Event, Adverse|Drug Events, Adverse|Drug Reaction, Adverse|Drug Reactions, Adverse|Drug Related Side Effects and Adverse Reactions|Drug Toxicities|Drug Toxicity|Event, Adverse Drug|Events, Adverse Drug|Reaction, Adverse Drug|Reactions, Adverse Drug|Toxicities, Drug|Toxicity, Drug
D004810||Ephemeral Fever|Fever, Ephemeral|Sickness, Three-Day|Three Day Sickness|Three-Day Sickness
D020047||Rectocele|Proctocele|Proctoceles|Rectoceles
C565300|605738||Microphthalmia, Isolated, with Coloboma 2|MCOPCB2|Microphthalmia, Colobomatous, Isolated 2
255120|C535588||Carnitine palmitoyl transferase 1A deficiency|Carnitine palmitoyltransferase 1 deficiency|Carnitine Palmitoyltransferase IA Deficiency|Carnitine Palmitoyltransferase I Deficiency|CPT 1A Deficiency|CPT Deficiency, Hepatic, Type I|CPT I Deficiency|Hepatic carnitine palmitoyltransferase 1 deficiency|Liver Form of Carnitine Palmitoyltransferase Deficiency
C566331|603813||Hypercholesterolemia, Autosomal Recessive|ARH|ARH1, FORMERLY|ARH2, FORMERLY|FHCB1, FORMERLY|FHCB2, FORMERLY|HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY|HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY
C536744||Woods Leversha Rogers syndrome|Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity|Severe intrauterine growth retardation with increased mitomycin C sensitivity
C536745||Woolly hair, congenital|Frizzy hair syndrome|Woolly hair syndrome
607936|C564309||Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like|AREI|Exfoliative Ichthyosis, Autosomal Recessive, IBS-Like
C536749||Wright Dyck syndrome|Hearing loss ankle anomalies and neurological regression/dementia|Sensory neuropathy with deafness and dementia
C535326|142900||Holt-Oram syndrome|Atriodigital dysplasia|Atrio-Digital Syndrome|Cardiac-Limb Syndrome|Cervico-Oculo-Acoustic Syndrome|Heart-hand syndrome|Heart-Hand Syndrome, Type 1|HOS|HOS1|Ventriculo-Radial Syndrome|Wildervanck syndrome
C536746||Woolly hair, hypotrichosis, everted lower lip and outstanding ears|Salamon Syndrome|Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
C536747||Worster Drought syndrome|Congenital suprabulbar paresis|Suprabulbar paresis congenital|Suprabulbar Paresis, Congenital|Worster-Drought Syndrome
C565764|604519||Inflammatory Bowel Disease 3|IBD3
D019046||Bone Marrow Neoplasms|Bone Marrow Neoplasm|Neoplasm, Bone Marrow|Neoplasms, Bone Marrow
D020031||Epstein-Barr Virus Infections|EBV Infection|EBV Infections|Epstein Barr Virus Infections|Herpesvirus 4 Infections, Human|Human Herpesvirus 4 Infections|Human Herpes Virus 4 Infections|Infections, EBV|Infections, Epstein-Barr Virus|Virus Infections, Epstein-Barr
C536762||Xanthogranulomatous cholecystitis
C536763||Xanthogranulomatous sialadenitis|Sialadenitis, xanthogranulomatous
C536760||X-linked mental retardation type Wittwer|X-linked mental retardation syndrome, Wittwer tpe
D019043||Vascular Neoplasms|Neoplasms, Vascular|Neoplasm, Vascular|Vascular Neoplasm
C535432||Berk-Tabatznik syndrome|Berk Tabatznik syndrome|Cleft nare, brachydactyly, short stature/dwarfism|Congenital optic atrophy and brachytelephalangy|Kyphosis brachyphalangy optic atrophy
D019042||Muscle Neoplasms|Cancer, Muscle|Cancer of Muscle|Cancer of the Muscle|Cancers, Muscle|Muscle Cancer|Muscle Cancers|Muscle Neoplasm|Neoplasm, Muscle|Neoplasms, Muscle
C564859|266120||Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to|Hemolytic Anemia due to P5N Deficiency|Hemolytic Anemia due to UMPH1 Deficiency|Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency|P5N DEFICIENCY|Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia due to|UMPH1 Deficiency
D063129||Parental Death|Death, Parental|Death, Paternal|Deaths, Parental|Deaths, Paternal|Parental Deaths|Paternal Death|Paternal Deaths
610168||LOEYS-DIETZ SYNDROME 2|AAT3|AORTIC ANEURYSM, FAMILIAL THORACIC 3|LDS2|MARFAN SYNDROME, TYPE II, FORMERLY
D008398||Masochism|Masochisms|Masochism, Sexual|Masochisms, Sexual|Sexual Masochism|Sexual Masochisms
188000||THROMBOCYTOPENIA 2|THC2|THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
C536755||X chromosome, monosomy Xq28|Deletion Xq28|Monosomy Xq28
C565295||Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis
C536756||X chromosome, trisomy Xp3|Duplication Xp3|Trisomy Xp3
C535422||Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
C565296||Convulsions, Benign Familial Infantile, 2|Seizures, Benign Familial Infantile, 2
C536753||X chromosome, duplication Xq13 1 q21 1|Duplication Xq13 1 q21 1|Trisomy Xq13 1 q21 1
611490||OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4|OPTB4|OSTEOPETROSIS, INFANTILE MALIGNANT 2
C535425||Congenital torticollis|Congenital muscular torticollis|Familial spasmodic torticollis|Familial torticollis|Torticollis, congenital|Torticollis, familial
C536754||X chromosome, monosomy Xp22 pter|Deletion Xp22 pter|Monosomy Xp22 pter
C535427||Ben Ari Shuper Mimouni syndrome
C535426||Congenitally corrected transposition of the great arteries|Congenitally corrected transposition of the great vessels|Transposition of the great arteries, congenitally corrected|Transposition of the great vessels, congenitally corrected
C536757||X-linked adrenal hypoplasia congenita|Addison Disease, X-Linked|Adrenal hypoplasia congenita|Adrenal Hypoplasia, Congenital|Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism|AHC with Isolated Gonadotropin Deficiency|Congenital adrenal hypoplasia|Cytomegalic Adrenocortical Hypoplasia|X-linked congenital adrenal hypoplasia
611090|C567019||Mental Retardation, Autosomal Recessive 12|MRT12
164400|D020754||SPINOCEREBELLAR ATAXIA 1|SCA1 SPINOCEREBELLAR ATROPHY I|OLIVOPONTOCEREBELLAR ATROPHY I|OPCA I|OPCA1|CEREBELLOPARENCHYMAL DISORDER I|CPD1|MENZEL TYPE OPCA|OLIVOPONTOCEREBELLAR ATROPHY IV|OPCA IV|OPCA4|SCHUT-HAYMAKER TYPE OPCA
D020022||Genetic Predisposition to Disease|Genetic Predisposition|Genetic Predispositions|Genetic Susceptibilities|Genetic Susceptibility|Predisposition, Genetic|Predispositions, Genetic|Susceptibilities, Genetic|Susceptibility, Genetic
241200|C537651||Bartter syndrome, antenatal , type 2|Bartter Syndrome, Antenatal, Type 2|Hyperprostaglandin E syndrome 2|Hypokalemic alkalosis with hypercalciuria, antenatal 2|Hypokalemic Alkalosis With Hypercalciuria, Antenatal, 2
C536773||Syphilis, secondary|Secondary syphilis
D019052||Depression, Postpartum|Depression, Postnatal|Depression, Post-Natal|Depression, Post-Partum|Postnatal Depression|Post Natal Depression|Post-Natal Depression|Postpartum Depression|Post Partum Depression|Post-Partum Depression
C535441||Bifid nose|Bifid Nose, Autosomal Recessive|Median fissure of nose|Nose, median cleft of
C536774||Syphilis, tertiary|Late syphilis|Tertiary syphilis
C536772||Syphilis, primary|Primary syphilis
D019053||HIV Enteropathy|AIDS-Associated Enteropathies|AIDS Associated Enteropathy|AIDS-Associated Enteropathy|AIDS Enteropathies|AIDS Enteropathies, Idiopathic|AIDS Enteropathy|AIDS Enteropathy, Idiopathic|Enteropathies, AIDS|Enteropathies, AIDS-Associated|Enteropathies, HIV|Enteropathies, HIV-Associated|Enteropathies, Idiopathic AIDS|Enteropathy, AIDS|Enteropathy, AIDS Associated|Enteropathy, AIDS-Associated|Enteropathy, HIV|Enteropathy, HIV Associated|Enteropathy, HIV-Associated|Enteropathy, Idiopathic AIDS|HIV-Associated Enteropathies|HIV Associated Enteropathy|HIV-Associated Enteropathy|HIV Enteropathies|Idiopathic AIDS Enteropathies|Idiopathic AIDS Enteropathy
C566404|603165||Dermatitis, Atopic, 1|ATOD|ATOD1, INCLUDED|DERMATITIS, ATOPIC|ECZEMA, ATOPIC DERMATITIS, ATOPIC, 1, INCLUDED
D007078||Ileal Neoplasms|Cancer, Ileal|Cancer of ILEUM|Cancer of the ILEUM|Cancers, Ileal|Ileal Cancer|Ileal Cancers|Ileal Neoplasm|ILEUM Cancer|ILEUM Cancers|Neoplasm, Ileal|Neoplasms, Ileal
D007079||Ileitis
C566637|601718||Retinitis Pigmentosa 19|RP19
D007077||Ileal Diseases|Disease, Ileal|Diseases, Ileal|Ileal Disease
C535689|135750||Laurin-Sandrow syndrome|Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius|FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED|Fibula ulna duplication tibia radius absence|Laurin Sandrow syndrome|Laurin-Sandrow Syndrome, Segmental|LSS|MIP|Mirror hands and feet with nasal defects|Mirror-Image Polydactyly|Sandrow syndrome|Tetramelic mirror-image polydactyly|TMIP
609165||ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR|AARAU DISEASE, INCLUDED|CRIE|ICHTHYOSIS VARIEGATA ERYTHROKERATODERMA, RETICULAR, INCLUDED|ICHTHYOSIS WITH CONFETTI|IWC
D052476||Hypobetalipoproteinemia, Familial, Apolipoprotein B|Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type|Apolipoprotein B Deficiencies|Apolipoprotein B Deficiency|Apolipoprotein B Deficiency Disease|Hypobetalipoproteinemia, Familial, Apo B
C536767||XK aprosencephaly|Aprosencephaly-atelencephaly syndrome|Aprosencephaly syndrome|Garcia-Lurie syndrome|XK-aprosencephaly syndrome|XK syndrome
C536764||Xerocytosis, hereditary|Dehydrated hereditary stomatocytosis|Desiccytosis, hereditary|Hereditary Xerocytosis
C536765||Xeroderma pigmentosum, type 9|Xeroderma pigmentosum, complementation group 1
C535435||Beta-sarcoglycanopathy
D053579|263800||Gitelman Syndrome|Familial Hypokalemia Hypomagnesemia|Familial Hypokalemia-Hypomagnesemia|Familial Hypokalemia-Hypomagnesemias|Gitelman&apos;s Syndrome|Gitelmans Syndrome|Hypokalemia-Hypomagnesemia, Familial|Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria|Hypokalemia-Hypomagnesemias, Familial|Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria|POTASSIUM AND MAGNESIUM DEPLETION|Primary Renotubular, Hypokalemia Hypomagnesemia with Hypocalciuria|Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria|Primary Renotubular, Hypomagnesemia Hypokalemia with Hypocalciuria|Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria|Syndrome, Gitelman|Syndrome, Gitelman&apos;s|Tubular Hypomagnesemia Hypokalemia with Hypocalcuria|Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria
C535438||Bidirectional tachycardia|Bidirectional ventricular tachycardia
D019048||Prostatic Intraepithelial Neoplasia|Intraepithelial Neoplasia, Prostatic|Intraepithelial Neoplasm, Prostatic|Intraepithelial Neoplasms, Prostatic|Intraepithelial Prostatic Neoplasia|Intraepithelial Prostatic Neoplasias|Neoplasia, Intraepithelial Prostatic|Neoplasia, Prostatic Intraepithelial|Neoplasm, Prostatic Intraepithelial|Neoplasms, Prostatic Intraepithelial|Prostatic Intraepithelial Neoplasias|Prostatic Intraepithelial Neoplasm|Prostatic Intraepithelial Neoplasms|Prostatic Neoplasia, Intraepithelial
C535437||Bhaskar Jagannathan syndrome
145600|C535694||Malignant hyperthermia susceptibility type 1|HYPERPYREXIA, MALIGNANT;MH KING SYNDROME, INCLUDED|HYPERTHERMIA OF ANESTHESIA|KING-DENBOROUGH SYNDROME, INCLUDED|Malignant Hyperthermia, Susceptibility To, 1|MHS|MHS1
190320||TRICHODENTOOSSEOUS SYNDROME|TDO|TDO SYNDROME
C566052|613740||Cardiomyopathy, Dilated, 1t|CMD1T
C536769||46, XY female|XY Female
C535439||Biemond syndrome type 2
182900|C567159||Spherocytosis, Type 1|Congenital Spherocytic Hemolytic Anemia|Congenital Spherocytosis|Hereditary Spherocytosis|HS|HS1|SPH|SPH1|Spherocytic Anemia|Spherocytosis, Hereditary, 1
304120|C538089||Oto-palato-digital syndrome, type 2|Andre syndrome|Cranio-oro-digital syndrome|Cranioorodigital Syndrome|Faciopalatoosseous syndrome|FPO|OPD2|OPD II Syndrome|OPD Syndrome 2|OPD Syndrome, Type 2|Otopalatodigital syndrome type 2|Otopalatodigital Syndrome, Type II
C536221|176450||Currarino triad|Currarino syndrome|CURRARINO TRIAD SACRAL AGENESIS SYNDROME, INCLUDED|SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED|SCRA1, INCLUDED
C566596||Thrombocytosis, Benign Familial Microcytic
249700|C537267||Langer mesomelic dysplasia|Dyschondrosteosis, homozygous|Dyschondrosteosis Homozygous|Langer Mesomelic Dwarfism|Langer mesomelic dyspalsia|Langer type of mesomelic dwarfism|LMD|Mesomelic dwarfism Langer type|Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type
C565724|609745||Glaucoma 1, Open Angle, I|GLC1I
C566597||Otofacioosseous-Gonadal Syndrome
C567068|300645||Atypical Mycobacteriosis, Familial, X-Linked 2|AMCBX2|Atypical Mycobacterial Infection, Disseminated, X-Linked 2|Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2|MYCOBACTERIAL DISEASE, MENDELIAN SUSCEPTIBILITY TO, X-LINKED RECESSIVE 2|MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED 2|XRMSMD2
C566598||Odontotrichoungual-Digital-Palmar Syndrome
C536192|229200||Ehlers-Danlos syndrome 6B|Adducted thumb-club foot syndrome|Adducted Thumb-Clubfoot Syndrome|Adducted thumbs Dundar type|Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis|BCS1|Brittle cornea syndrome|BRITTLE CORNEA SYNDROME 1|Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|Dysgenesis Mesodermalis Corneae et Sclerae|EDS6B, FORMERLY|Ehlers-Danlos Syndrome, Type VIB|EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY|Fragilitas oculi with joint hyperextensibility
C536965|162500||Tomaculous neuropathy|Compression Neuropathy|Entrapment Neuropathy|Familial Pressure Sensitive Neuropathy|Hereditary Neuropathy with Liability To Pressure Palsies|Hereditary Neuropathy with Liability to Pressure Palsy|Hereditary Pressure Sensitive Neuropathy|HNPP|Inherited Tendency To Pressure Palsies|Neuropathy, Hereditary, With Liability To Pressure Palsies|Polyneuropathy, familial recurrent|TOMACULOUS NEUROPATHY
C564637|606995||Senior-Loken Syndrome 3|SLSN3
D020019||Neurocysticercosis|Brain Cysticercosis|Central Nervous System Cysticercosis|Cysticercosis, Brain|Cysticercosis, Central Nervous System|Neurocysticercoses
D020018||Sexual Dysfunctions, Psychological|Arousal Disorders, Sexual|Aversion Disorders, Sexual|Disorder, Psychosexual|Disorders, Orgasmic|Disorders, Psychosexual|Disorders, Sexual Arousal|Disorders, Sexual Aversion|Dysfunction, Psychological Sexual|Dysfunction, Psychosexual|Dysfunctions, Psychological Sexual|Dysfunctions, Psychosexual|Frigidity|Hypoactive Sexual Desire Disorder|Orgasmic Disorder|Orgasmic Disorders|Psychological Sexual Dysfunction|Psychological Sexual Dysfunctions|Psychosexual Disorder|Psychosexual Disorders|Psychosexual Dysfunction|Psychosexual Dysfunctions|Sexual Arousal Disorder|Sexual Arousal Disorders|Sexual Aversion Disorder|Sexual Aversion Disorders|Sexual Dysfunction, Psychological
D020016||Activated Protein C Resistance|APC Resistance|Resistance, APC
C536913|607464||Thyroid cancer, Hurthle cell|Follicular thyroid cancer, Hurthle cell type|Hurthle cell carcinoma of the thyroid|Hurthle Cell Thyroid Neoplasia|Thyroid cancer, follicular, Hurthle cell type|Thyroid carcinoma, Hurthle cell
D007037||Hypothyroidism|Hypothyroidisms
D008368||Mansonelliasis|Acanthocheilonema perstans Infection|Acanthocheilonema perstans Infections|Dipetalonema perstans Infection|Dipetalonema perstans Infections|Infection, Acanthocheilonema perstans|Infection, Dipetalonema perstans|Infection, Mansonella perstans|Infections, Acanthocheilonema perstans|Infections, Dipetalonema perstans|Infections, Mansonella perstans|Mansonella perstans Infection|Mansonella perstans Infections|Mansonelliases|Mansonelloses|Mansonellosis|perstans Infection, Acanthocheilonema|perstans Infection, Dipetalonema|perstans Infection, Mansonella|perstans Infections, Acanthocheilonema|perstans Infections, Dipetalonema|perstans Infections, Mansonella
201000|C563187||Acrocephalopolysyndactyly Type II|ACPS II|ACROCEPHALOPOLYSYNDACTYLY TYPE II|Carpenter Syndrome|CARPENTER SYNDROME 1|CRPT1
D007046||Hysteria|Hysterical Neuroses|Neuroses, Hysterical
D010688||Phimosis|Phimoses
D010689||Phlebitis|Periphlebitides|Periphlebitis|Phlebitides
610141||QT INTERVAL, VARIATION IN
D007040||Hypoventilation|Hypoventilations
C565272||Liver Fibrocystic Disease and Polydactyly
C565273||Arthropathy, Erosive
C565271||Metaphyseal Dysplasia, Braun-Tinschert Type
D063130||Maternal Death|Death, Maternal|Deaths, Maternal|Maternal Deaths
C536063|259770||Osteoporosis-pseudoglioma syndrome|OPPG|OPS|Osteogenesis imperfecta, ocular form|Pseudoglioma with bone fragility
C565277||Cardiomyopathy, Dilated, with Left Ventricular Noncompaction
C563562|158580||Neuropathy, Distal Hereditary Motor, Type VIIA|DHMN7A|DHMNVP|Harper-Young Myopathy|HMN7A|HMN VIIA|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA|NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA|Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis
C562447|313400||Spondyloepiphyseal Dysplasia Tarda, X-Linked|SEDT|SED TARDA, X-LINKED|Spondyloepiphyseal Dysplasia, Late
C564551|300261||Armfield X-Linked Mental Retardation Syndrome|Mental Retardation, X-Linked, Armfield Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE|MRXSA
D007049||Iatrogenic Disease|Disease, Iatrogenic|Diseases, Iatrogenic|Iatrogenic Diseases
264300|C537805||17-Hydroxysteroid Dehydrogenase Deficiency|17 alpha ketosteroid reductase deficiency of testis|17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency|17 Beta-hydroxysteroid dehydrogenase deficiency|17-Beta Hydroxysteroid Dehydrogenase III Deficiency|17-Ketosteroid Reductase Deficiency Of Testis|17-Ksr Deficiency|Male pseudohermaphroditism with gynecomastia|Neutral 17 beta-hydroxysteroid oxidoreductase deficiency|Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency|Pseudohermaphroditism, Male, with Gynecomastia|PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED
C535356|600790||Chorioretinal atrophy, progressive bifocal|CRAPB|PBCRA|Progressive bifocal chorioretinal atrophy
D008379||Marburg Virus Disease|Disease, Marburg|Fever, Marburg Hemorrhagic|Hemorrhagic Fever, Marburg|Marburg Disease|Marburg Hemorrhagic Fever
C536709||Winchester syndrome|Winchester disease|Winchester-Grossman disease|Winchester-Grossman syndrome
C562694|600669||Epilepsy, Idiopathic Generalized|EIG|EIG11|EIG1, INCLUDED|EIG2|EIG3|EIG4|EIG5|EIG8|EIG9|EJA2, INCLUDED|EJM6,|EJM6, INCLUDED|EJM7, INCLUDED|EJM8,|EJM8, INCLUDED|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10;EIG10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 10|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 14|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 8, INCLUDED|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 9|EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED|GEFS5, INCLUDED|GEFS+5, SUSCEPTIBILITY TO, INCLUDED|GEFSP5, SUSCEPTIBILITY TO, INCLUDED|GEFS+, TYPE 5, SUSCEPTIBILITY TO, INCLUDED|Idiopathic Generalized Epilepsy|IDIOPATHIC GENERALIZED EPILEPSY;IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1, INCLUDED|TO, INCLUDED
612797||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12|HDLCQ12
D007057||Ichthyosis|Ichthyoses|Xeroderma|Xerodermas
C536707||Wilms tumor and radial bilateral aplasia|Bilateral radial aplasia with Wilms tumor|Wilms tumor 5
C564101|309620||Mental Retardation, Skeletal Dysplasia, and Abducens Palsy|Christian Syndrome|CHRS|MRSD
D010698||Phobic Disorders|Claustrophobia|Claustrophobias|Disorder, Phobic|Disorders, Phobic|Neuroses, Phobic|Phobia|Phobias|Phobia, School|Phobia, Social|Phobias, School|Phobias, Social|Phobic Disorder|Phobic Neuroses|School Phobia|School Phobias|Social Phobia|Social Phobias
C536700||White forelock with malformations
C565284||Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
C536701||Curatolo Cilio Pessagno syndrome|White matter hypoplasia, corpus callosum agenesia, and mental retardation
C535310|231530||3-Hydroxyacyl-CoA Dehydrogenase Deficiency|3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency|3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency|HAD Deficiency|HADH Deficiency|HADHSC Deficiency|L-3-Alpha-Hydroxyacyl-CoA Dehydrogenase, Short Chain, Deficiency|M-SCHAD Deficiency|SCHAD Deficiency|SCHAD DEFICIENCY, FORMERLY
D008380||Marek Disease|Fowl Paralyses|Fowl Paralysis|Marek&apos;s Disease|Mareks Disease|Neurolymphomatoses|Neurolymphomatosis|Paralyses, Fowl|Paralysis, Fowl
C565285||Spondyloocular Syndrome, Autosomal Recessive
C536704||Wiedemann Grosse Dibbern syndrome
C535531|603932||Intervertebral disc disease|IDD|LDD, INCLUDED|LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO, INCLUDED|Lumbar Disc Disease|LUMBAR DISC DISEASE, INCLUDED|LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO, INCLUDED
C536705||Wiedemann Oldigs Oppermann syndrome|Hirsutism skeletal dysplasia mental retardation syndrome|Hirsutism, Skeletal Dysplasia, Mental Retardation Syndrome
C536702||White platelet syndrome
C565282||Baby Rattle Pelvis Dysplasia
C565247||Thyroid Carcinoma, Nonmedullary 1|Nonmedullary Thyroid Carcinoma 1
C565248||Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
C566575||Neuropathy, Hereditary Thermosensitive
C566577||Usher Syndrome, Type IE
D063169||Dentofacial Deformities|Abnormalities, Dentofacial|Abnormality, Dentofacial|Deformities, Dentofacial|Deformity, Dentofacial|Dentofacial Abnormalities|Dentofacial Abnormality|Dentofacial Deformity|Dentofacial Dyplasia|Dentofacial Dyplasias|Dyplasia, Dentofacial|Dyplasias, Dentofacial
D007018||Hypopituitarism|Adenohypophyseal Hyposecretion|Anterior Pituitary Hyposecretion Syndrome|Disease, Simmonds|Hypopituitarism, Postpartum|Hyposecretion, Adenohypophyseal|Hyposecretion Syndrome, Anterior Pituitary|Insufficiency, Pituitary|Panhypopituitarism, Postpartum|Pituitary Insufficiency|Pituitary Insufficiency, Postpartum|Postpartum Hypopituitarism|Postpartum Panhypopituitarism|Postpartum Pituitary Insufficiency|Sheehan&apos;s Syndrome|Sheehans Syndrome|Sheehan Syndrome|Simmond&apos;s Disease|Simmonds Disease|Simmonds&apos; Disease|Syndrome, Sheehan|Syndrome, Sheehan&apos;s
D007019||Hypoproteinemia|Hypoproteinemias
D023981||Sarcoma, Myeloid|Chloroma|Chloromas|Extramedullary Myeloid Cell Tumor|Granulocytic Sarcoma|Granulocytic Sarcomas|Myeloid Cell Tumor, Extramedullary|Myeloid Sarcoma|Myeloid Sarcomas|Sarcoma, Granulocytic|Sarcomas, Granulocytic|Sarcomas, Myeloid
D007014||Hypophosphatasia|Hypophosphatasias
D007015||Hypophosphatemia, Familial|Diabetes, Phosphate|Familial Hypophosphatemia|Familial Hypophosphatemias|Hyperphosphaturia|Hypophosphatemias, Familial|Phosphate Diabetes|Phosphaturia
C536719||Yunis Varon syndrome|Cleidocranial dysplasia, micrognathia, absent thumbs, &amp; distal aphalangia|Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia|Yunis-Varon Syndrome
D007024||Hypotension, Orthostatic|Hypotension, Postural|Orthostatic Hypotension|Postural Hypotension
C536717||Young Simpson syndrome|Blepharophimosis and Mental Retardation Syndrome, Say-Barber-Biesecker-Young-Simpson Type|Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber-Biesecker-Young-Simpson Type|Mental retardation unusual facies hypothyroidism|Ohdo Syndrome, Say-Barber-Biesecker Variant|Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant|Ohdo Syndrome, SBBYS Variant|Say-Barber-Biesecker-Young-Simpson Syndrome|Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome|SBBYS Variant of Ohdo Syndrome|Young-Simpson Syndrome
D007021||Hypospadias|Hypospadia
C536718||Young Syndrome|Azoospermia, obstructive, and chronic sinopulmonary infections|Azoospermia sinopulmonary infections|Barry-Perkins-Young syndrome|Sinusitis-infertility syndrome
D007022||Hypotension|Blood Pressure, Low|Hypotension, Vascular|Low Blood Pressure|Vascular Hypotension
D034062|600072||Insomnia, Fatal Familial|Familial Fatal Insomnia|Familial Fatal, Insomnia|Familial Fatal Insomnias|Familial Fatals, Insomnia|Fatal Familial Insomnia|Fatal Familial Insomnias|Fatal Insomnia, Familial|Fatal, Insomnia Familial|Fatal Insomnias, Familial|Fatals, Insomnia Familial|FFI|Insomnia Familial Fatal|Insomnia, Familial Fatal|Insomnia Familial Fatals|INSOMNIA, FATAL FAMILIAL|Insomnias, Familial Fatal|Insomnias, Fatal Familial
D007020||Hypoprothrombinemias|Deficiencies, Factor II|Deficiencies, Prothrombin|Deficiency, Factor II|Deficiency, Prothrombin|Factor II Deficiencies|Factor II Deficiency|Hypoprothrombinemia|Prothrombin Deficiencies|Prothrombin Deficiency
C579887||African Hemochromatosis|African Siderosis
C536711||Winship Viljoen Leary syndrome|Microcephaly cardiomyopathy|Microcephaly-Cardiomyopathy|Microcephaly-cardiomyopathy syndrome|Microcephaly with cardiomyopathy|Microcephaly with mental retardation and dilated cardiomyopathy|Severe microcephaly and self-limiting dilated cardiomyopathy|Severe microcephaly with mental retardation and dilated cardiomyopathy
C536712||Winter Harding Hyde syndrome|Pachygyria joint contractures facial abnormalities
C565252||Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
C565253||Developmental Delay, Epilepsy, and Neonatal Diabetes
C536715||Young Hughes syndrome|Sex-linked mental retardation, short stature, obesity and hypogonadism
C536716||Young McKeever Squier syndrome|Encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|Olivopontocerebellar hypoplasia lethal type|Pontocerebellar Hypoplasia Type 4
C536713||Yim Ebbin syndrome|Amelia, cleft lip, palate, hydrocephalus, iris coloboma|Brachial amelia, forebrain defects and facial clefts|Brachial Amelia, Forebrain Defects, and Facial Clefts
C566580||Deafness, Autosomal Recessive 18|DFNB18
C536714||Yorifuji Okuno syndrome|Pancreatic hypoplasia diabetes heart disease
C565258||Fryns-Aftimos Syndrome|Cerebrooculofacial Lymphatic Syndrome|Mental Retardation with Epilepsy and Characteristic Facies|Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies
C566586||Usher Syndrome, Type IF
C565255||Genitopatellar Syndrome|Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation
C536730||Zuska&apos;s Disease|Lactation and squamous metaplasia of lactiferous ducts|Lactiferous fistula|Zuska disease
C565256||Diamond-Blackfan Anemia With Microtia And Cleft Palate
C566588||Broad Terminal Phalanges, Familial
D007029||Hypothalamic Neoplasms|Benign Hypothalamic Neoplasm|Benign Hypothalamic Neoplasms|Cancer, Hypothalamic|Cancers, Hypothalamic|Hypothalamic Cancer|Hypothalamic Cancers|Hypothalamic-Chiasmatic Neoplasm|Hypothalamic Chiasmatic Neoplasms|Hypothalamic-Chiasmatic Neoplasms|Hypothalamic Neoplasm|Hypothalamic Neoplasm, Malignant|Hypothalamic Neoplasms, Benign|Hypothalamic Neoplasms, Malignant|Hypothalamic-Pituitary Neoplasm|Hypothalamic Pituitary Neoplasms|Hypothalamic-Pituitary Neoplasms|Hypothalamic Teratoma|Hypothalamic Teratomas|Hypothalamic Tumor|Hypothalamic Tumors|Hypothalamo-Neurohypophysial Region Neoplasm|Hypothalamo Neurohypophysial Region Neoplasms|Hypothalamo-Neurohypophysial Region Neoplasms|Hypothalamus Neoplasm|Hypothalamus Neoplasms|Hypothalamus Tumor|Hypothalamus Tumors|Malignant Hypothalamic Neoplasm|Malignant Hypothalamic Neoplasms|Neoplasm, Benign Hypothalamic|Neoplasm, Hypothalamic|Neoplasm, Hypothalamic-Chiasmatic|Neoplasm, Hypothalamic-Pituitary|Neoplasm, Hypothalamo-Neurohypophysial Region|Neoplasm, Hypothalamus|Neoplasm, Malignant Hypothalamic|Neoplasms, Hypothalamic|Neoplasms, Hypothalamic, Benign|Neoplasms, Hypothalamic Chiasmatic|Neoplasms, Hypothalamic-Chiasmatic|Neoplasms, Hypothalamic, Malignant|Neoplasms, Hypothalamic Pituitary|Neoplasms, Hypothalamic-Pituitary|Neoplasms, Hypothalamo Neurohypophysial Region|Neoplasms, Hypothalamo-Neurohypophysial Region|Neoplasms, Hypothalamus|Neoplasms, Malignant Hypothalamic|Teratoma, Hypothalamic|Teratomas, Hypothalamic|Tumor, Hypothalamic|Tumor, Hypothalamus|Tumors, Hypothalamic|Tumors, Hypothalamus
C567726|613164||Parkinson Disease 16|PARK16
D007027||Hypothalamic Diseases|Diencephalic Syndrome, Pituitary|Diencephalic Syndromes, Pituitary|Disease, Hypothalamic|Diseases, Hypothalamic|Disorder, Hypothalamic-Adenohypophyseal|Disorder, Hypothalamic-Neurohypophyseal|Disorders, Hypothalamic-Adenohypophyseal|Disorders, Hypothalamic-Neurohypophyseal|Dysfunction Syndrome, Hypothalamic|Dysfunction Syndromes, Hypothalamic|Dysinhibition Syndrome, Hypothalamic|Dysinhibition Syndromes, Hypothalamic|Froehlich&apos;s Syndrome|Froehlichs Syndrome|Froehlich Syndrome|Hypothalamic-Adenohypophyseal Disorder|Hypothalamic Adenohypophyseal Disorders|Hypothalamic-Adenohypophyseal Disorders|Hypothalamic Disease|Hypothalamic Dysfunction Syndrome|Hypothalamic Dysfunction Syndromes|Hypothalamic Dysinhibition Syndrome|Hypothalamic Dysinhibition Syndromes|Hypothalamic-Neurohypophyseal Disorder|Hypothalamic Neurohypophyseal Disorders|Hypothalamic-Neurohypophyseal Disorders|Hypothalamic Overactivity Syndrome|Hypothalamic Overactivity Syndromes|Hypothalamic Pseudopuberties|Hypothalamic Pseudopuberty|Overactivity Syndrome, Hypothalamic|Overactivity Syndromes, Hypothalamic|Pituitary Diencephalic Syndrome|Pituitary Diencephalic Syndromes|Pseudopuberties, Hypothalamic|Pseudopuberty, Hypothalamic|Syndrome, Froehlich&apos;s|Syndrome, Hypothalamic Dysfunction|Syndrome, Hypothalamic Dysinhibition|Syndrome, Hypothalamic Overactivity|Syndromes, Hypothalamic Dysfunction|Syndromes, Hypothalamic Dysinhibition|Syndromes, Hypothalamic Overactivity|Syndromes, Pituitary Diencephalic
612775||CONE-ROD DYSTROPHY 9|CORD9
D007035||Hypothermia|Accidental Hypothermia|Accidental Hypothermias|Hypothermia, Accidental|Hypothermias|Hypothermias, Accidental
C536728||Zori Stalker Williams syndrome|Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|Pectus excavatum, macrocephaly and dysplastic nails
D010677||Philadelphia Chromosome|1 Chromosome, Ph|1 Chromosomes, Ph|Chromosome, Ph1|Chromosome, Ph 1|Chromosome, Philadelphia|Chromosomes, Ph1|Chromosomes, Ph 1|Ph 1 Chromosome|Ph1 Chromosome|Ph 1 Chromosomes|Ph1 Chromosomes
C536729||Zunich neuroectodermal syndrome|CHIME syndrome
310500||NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A|CSNB1A|CSNB, COMPLETE, X-LINKED|HEMERALOPIA-MYOPIA|MYOPIA-NIGHT BLINDNESS;NBM1 NYCTALOPIA, INCLUDED|NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA
C537761|309500||Renpenning syndrome 1|Golabi-Ito-Hall Syndrome|Hamel Cerebropalatocardiac Syndrome|Mental Retardation, X-Linked 55|Mental retardation, X-linked Renpenning type|Mental Retardation, X-Linked, Renpenning Type|Mental Retardation, X-Linked, Syndromic 3|Mental retardation, X-linked, syndromic 8|Mental Retardation, X-Linked, With Spastic Diplegia|Mrx55|MRXS3|MRXS8|Porteous Syndrome|Renpenning Syndrome|RENS1|SHS|Sutherland-Haan syndrome|Sutherland-Haan X-linked mental retardation syndrome|X-Linked Intellectual Deficit Due To Pqbp1 Mutations|X-Linked Intellectual Deficit, Renpenning Type|X-linked mental retardation syndromic 3|X-linked mental retardation with spastic diplegia
C567405|612162||Aneurysm, Intracranial Berry, 8|ANIB8
D047928||Premature Birth|Birth, Premature|Birth, Preterm|Births, Premature|Births, Preterm|Premature Births|Preterm Birth|Preterm Births
C566592||Ectodermal Dysplasia, Pure Hair-Nail Type
C536722||ZAP70 deficiency|Selective T-Cell Defect|Zap70-Related Scid|Zap70-Related Severe Combined Immunodeficiency|Zeta-associated-protein 70 deficiency|Zeta-Associated Protein 70 Deficiency
C565429|247640||Lymphoblastic Leukemia, Acute, with Lymphomatous Features|LALL|Lymphomatous ALL
C565262||Myopathy, Distal 2|Distal Myopathy with Vocal Cord and Pharyngeal Signs|Distal Myopathy with Vocal Cord Weakness|Matrin 3 Distal Myopathy|Mpd2|Myopathia Distalis Type 2|VCPDM|Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy|Vocal Cord and Pharyngeal Weakness with Distal Myopathy
C536723||Zazam Sheriff Phillips syndrome|Aniridia, ectopia lentis, abnormal upper incisors and mental retardation|Aniridia, lens luxation, mental retardation
C536529|606713||Van der Woude syndrome 2|VWS2
600791||DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT|DFNB4|DILATED VESTIBULAR AQUEDUCT|DVA|NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4|NSRD4
C536720||Yusho Disease
D059905||Endocarditis, Non-Infective|Endocarditides, Marantic|Endocarditides, Non-Infective|Endocarditis, Marantic|Endocarditis, Non-Bacterial Thrombotic|Endocarditis, Non Infective|Marantic Endocarditides|Marantic Endocarditis|Non-Bacterial Thrombotic Endocarditis|Non-Infective Endocarditides|Non Infective Endocarditis|Non-Infective Endocarditis
C566595||Hyperzincemia with Functional Zinc Depletion
C536721||Zadik Barak Levin syndrome|Dermoid cysts, hypothyroidism, cleft palate, and hypodontia
C536727||Zonular cataract and nystagmus|Nystagmus with congenital zonular cataract
C536724||Zerres Rietschel Majewski syndrome
C536528|119300||Van der Woude syndrome|Cleft lip and/or palate with mucous cysts of lower lip|Lip pit syndrome|Lip-Pit Syndrome|LPS|PIT|VAN DER WOUDE SYNDROME 1|VDWS|VWS1
D007119||Immunoblastic Lymphadenopathy|Angioimmunoblastic Lymphadenopathies|Angioimmunoblastic Lymphadenopathy|Immunoblastic Lymphadenopathies|Lymphadenopathies, Angioimmunoblastic|Lymphadenopathies, Immunoblastic|Lymphadenopathy, Angioimmunoblastic|Lymphadenopathy, Immunoblastic
D046728||Colitis, Microscopic|Microscopic Colitis
D008446||Maxillofacial Injuries|Injuries, Maxillofacial|Injury, Maxillofacial|Maxillofacial Injury
C566454|609698||Thyroid Hormone Metabolism, Abnormal
D008444||Maxillary Sinus Neoplasms|Cancer, Maxillary Sinus|Cancer of Maxillary Sinus|Cancers, Maxillary Sinus|Maxillary Sinus Cancer|Maxillary Sinus Cancers|Maxillary Sinus Neoplasm|Neoplasm, Maxillary Sinus|Neoplasms, Maxillary Sinus
D054067|274270||Dihydropyrimidine Dehydrogenase Deficiency|Deficiencies, Dihydropyrimidine Dehydrogenase|Deficiencies, DPD|Deficiency, Dihydropyrimidine Dehydrogenase|Deficiency, DPD|Dehydrogenase Deficiencies, Dihydropyrimidine|Dehydrogenase Deficiency, Dihydropyrimidine|Dihydropyrimidine Dehydrogenase Deficiencies|Dihydropyrimidinuria|Dihydropyrimidinurias|DPD Deficiencies|DPD Deficiency|DPYD DEFICIENCY|Familial Pyrimidemia|Familial Pyrimidemias|Familial Pyrimidinemia|Familial Pyrimidinemias|Hereditary Thymine Uraciluria|Hereditary Thymine-Uraciluria|Hereditary Thymine-Uracilurias|Pyrimidemia, Familial|Pyrimidemias, Familial|Pyrimidinemia, Familial|PYRIMIDINEMIA, FAMILIAL 5-FLUOROURACIL TOXICITY, INCLUDED|Pyrimidinemias, Familial|Thymine Uraciluria, Hereditary|Thymine-Uraciluria, Hereditary|Thymine-Uracilurias, Hereditary
D009784||Occupational Diseases|Disease, Occupational|Diseases, Occupational|Illnesse, Occupational|Illnesses, Occupational|Occupational Disease|Occupational Illnesse|Occupational Illnesses
D009783||Dermatitis, Occupational|Dermatitides, Occupational|Dermatoses, Industrial|Dermatosis, Industrial|Industrial Dermatoses|Industrial Dermatosis|Occupational Dermatitides|Occupational Dermatitis
308240|D008232||Lymphoproliferative Disorders|Disease, Duncan|Diseases, X-Linked Lymphoproliferative|Disease, X-Linked Lymphoproliferative|Disorder, Lymphoproliferative|Disorders, Lymphoproliferative|Disorders, X-Linked Lymphoproliferative|Disorder, X-Linked Lymphoproliferative|Duncan Disease|Duncan&apos;s Syndrome|EBV INFECTION, SEVERE, SUSCEPTIBILITY TO|EBVS|Epstein Barr Virus Induced Lymphoproliferative Disease In Males|Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males|Epstein Barr Virus Infection, Familial Fatal|Epstein-Barr Virus Infection, Familial Fatal|Familial Fatal Epstein Barr Infection|Familial Fatal Epstein-Barr Infection|IMD5|Immunodeficiency 5|Immunodeficiency 5s|Immunodeficiency, X Linked Progressive Combined Variable|Immunodeficiency, X-Linked Progressive Combined Variable|INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO|Lymphoproliferative Diseases, X-Linked|Lymphoproliferative Disease, X Linked|Lymphoproliferative Disease, X-Linked|Lymphoproliferative Disorder|Lymphoproliferative Disorders, X-Linked|Lymphoproliferative Disorder, X-Linked|Lymphoproliferative Syndromes, X-Linked|Lymphoproliferative Syndrome, X-Linked|Lymphoproliferative Syndrome, X-Linked, 1|LYP|Purtilo Syndrome|Purtilo Syndromes|Syndrome, Purtilo|Syndromes, Purtilo|Syndromes, X-Linked Lymphoproliferative|Syndrome, X-Linked Lymphoproliferative|X Linked Lymphoproliferative Disease|X-Linked Lymphoproliferative Disease|X-Linked Lymphoproliferative Diseases|X Linked Lymphoproliferative Disorder|X-Linked Lymphoproliferative Disorder|X-Linked Lymphoproliferative Disorders|X Linked Lymphoproliferative Syndrome|X-Linked Lymphoproliferative Syndrome|X-Linked Lymphoproliferative Syndromes|XLP|XLP1|XLPD
202370||PEROXISOME BIOGENESIS DISORDER 2B|PBD2B
D046729||Colitis, Collagenous|Collagenous Colitis
C535938|600668||Chondrocalcinosis 1|CCAL1|Chondrocalcinosis with early-onset osteoarthritis
C562476|141200||Hematuria, Benign Familial|BFH|Thin-Basement-Membrane Nephropathy|Thin Membrane Nephropathy|TMN
D010760||Phosphorus Metabolism Disorders|Disorder, Phosphorus Metabolism|Disorders, Phosphorus Metabolism|Metabolism Disorder, Phosphorus|Metabolism Disorders, Phosphorus|Phosphorus Metabolism Disorder
D046730||Colitis, Lymphocytic|Lymphocytic Colitis
C563672|610374||Diabetes Mellitus, Transient Neonatal, 2|TNDM2
C565448|245348||Pyruvate Dehydrogenase E2 Deficiency|Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex|PDHDD
300802||MENTAL RETARDATION, X-LINKED 96|MRX96
106250|C536373||Ankyloblepharon filiforme adnatum cleft palate|AFA|Ankyloblepharon filiforme adnatum|Ankyloblepharon Filiforme Adnatum and Cleft Palate|Ankyloblepharon filiforme congenitum|Congenital filiform fusion of the eyelids with cleft palate and/or cleft lip
D008457||Measles|Rubeola
C566530|602522||Bartter Syndrome, Type 4A|BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS;BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDED
608027|C548072||Pontocerebellar Hypoplasia Type 3|Cerebellar Atrophy With Progressive Microcephaly|CLAM|PCH3|Pch With Optic Atrophy|PONTOCEREBELLAR HYPOPLASIA, TYPE 3
D009794||Ochronosis|Ochronoses
607906|C535747||Congenital disorder of glycosylation type II|CDG1I|CDGII|CDG II|Congenital disorder of glycosylation type 1I|Congenital Disorder Of Glycosylation, Type II
D019106||Postoperative Hemorrhage|Blood Loss, Postoperative|Hemorrhage, Postoperative|Hemorrhages, Postoperative|Loss, Postoperative Blood|Postoperative Blood Loss|Postoperative Hemorrhages
D034721||Mastocytosis, Systemic|Aggressive Systemic Mastocytoses|Aggressive Systemic Mastocytosis|Indolent Systemic Mastocytoses|Indolent Systemic Mastocytosis|Mast-Cell Diseases, Systemic|Mast-Cell Disease, Systemic|Mastocytoses, Aggressive Systemic|Mastocytoses, Indolent Systemic|Mastocytoses, Systemic|Mastocytosis, Aggressive Systemic|Mastocytosis, Indolent Systemic|Systemic Mast Cell Disease|Systemic Mast-Cell Disease|Systemic Mast-Cell Diseases|Systemic Mastocytoses|Systemic Mastocytoses, Aggressive|Systemic Mastocytoses, Indolent|Systemic Mastocytosis|Systemic Mastocytosis, Aggressive|Systemic Mastocytosis, Indolent
D004687|166000||Enchondromatosis|Chondrodysplasia with Hemangioma|Chondroplasia Angiomatosis|Disease, Ollier|Disease, Ollier&apos;s|Dyschondrodysplasia with Hemangiomas|DYSCHONDROPLASIA|Dyschondroplasia and Cavernous Hemangioma|Enchondroma, Multiple|Enchondromas, Multiple|Enchondromatoses|Enchondromatosis, Multiple|ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE|Enchondromatosis with Hemangiomata|Enchondromatosis with Multiple Cavernous Hemangiomas|Enchondroses, Multiple|Enchondrosis, Multiple|Hemangiomata with Dyschondroplasia|Hemangiomatosis Chondrodystrophica|Kast Syndrome|Maffucci Syndrome|Multiple Angiomas and Endochondromas|Multiple Enchondroma|Multiple Enchondromas|Multiple Enchondroses|Multiple Enchondrosis|Ollier Disease|Ollier&apos;s Disease|Olliers Disease|OSTEOCHONDROMATOSIS|Syndrome, Maffucci
C564306|608013||Gaucher Disease, Perinatal Lethal|Gaucher Disease, Collodion Type
C537952|600143||Ceroid lipofuscinosis, neuronal 8|Ceroid Lipofuscinosis, Neuronal, 8|Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant|CLN8|Epilepsy progressive with mental retardation|Epilepsy, Progressive, With Mental Retardation|EPMR|Northern epilepsy|Northern epilepsy syndrome
C563137|309549||Mental Retardation, X-Linked 9|Mental Retardation, X-Linked 44|MRX44|MRX9
D009759||Nystagmus, Pathologic|Alternating Nystagmus, Periodic|Conjugate Nystagmus|Convergence Nystagmus|Dissociated Nystagmus|Fatigable Positional Nystagmus|Horizontal Nystagmus|Jerk Nystagmus|Multidirectional Nystagmus|Non Fatigable Positional Nystagmus|Non-Fatigable Positional Nystagmus|Nystagmus, Conjugate|Nystagmus, Convergence|Nystagmus, Dissociated|Nystagmus, Fatigable Positional|Nystagmus, Horizontal|Nystagmus, Jerk|Nystagmus, Multidirectional|Nystagmus, Non-Fatigable Positional|Nystagmus, Pendular|Nystagmus, Periodic Alternating|Nystagmus, Permanent|Nystagmus, Rebound|Nystagmus, Retraction|Nystagmus, Rotary|Nystagmus, Rotational|Nystagmus, See-Saw|Nystagmus, Spontaneous Ocular|Nystagmus, Symptomatic|Nystagmus, Temporary|Nystagmus, Unidirectional|Nystagmus, Vertical|Ocular Nystagmus, Spontaneous|Pathologic Nystagmus|Pendular Nystagmus|Periodic Alternating Nystagmus|Permanent Nystagmus|Positional Nystagmus, Fatigable|Positional Nystagmus, Non-Fatigable|Rebound Nystagmus|Retraction Nystagmus|Rotary Nystagmus|Rotational Nystagmus|See Saw Nystagmus|See-Saw Nystagmus|Spontaneous Ocular Nystagmus|Symptomatic Nystagmus|Temporary Nystagmus|Unidirectional Nystagmus|Vertical Nystagmus
C563422|600962||Palmoplantar Keratoderma, Nonepidermolytic|Keratoderma, Nonepidermolytic Palmoplantar|NEPPK|Nonepidermolytic Palmoplantar Keratoderma|TYLOSIS
D046748||Hematoma, Epidural, Spinal|Epidural Hematoma, Spinal|Epidural Hematomas, Spinal|Epidural Hemorrhage, Spinal|Epidural Hemorrhages, Spinal|Hematoma, Spinal Epidural|Hematomas, Spinal Epidural|Hemorrhage, Spinal Epidural|Hemorrhages, Spinal Epidural|Spinal Epidural Hematoma|Spinal Epidural Hematomas|Spinal Epidural Hemorrhage|Spinal Epidural Hemorrhages
C535612|276820||Al Awadi syndrome|AARRS|Al-Awadi/Raas-Rothschild Syndrome|Al Awadi Rass Rothschild syndrome|Limb/Pelvis Hypoplasia/Aplasia syndrome|Limb/Pelvis-Hypoplasia/Aplasia Syndrome|LPHAS|Schinzel phocomelia syndrome|Ulna and fibula absence of with severe limb deficiency|Ulna And Fibula, Absence Of, With Severe Limb Deficiency
106700|D012587||Scimitar Syndrome|Anomalous Pulmonary Venous Return|Anomaly, Scimitar|APVR|Pulmonary Venous Return Anomaly|Scimitar Anomaly|SCIMITAR SYNDROME|Syndrome, Scimitar|TAPVR|TAPVR1|Total Anomalous Pulmonary Venous Return|Total Anomalous Pulmonary Venous Return 1
D009755||Night Blindness|Blindness, Night|Nyctalopia
C563659|610829||Holoprosencephaly 9|HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES|HPE9|Pituitary Anomalies with Holoprosencephaly-Like Features
188055|C566056||Thrombophilia due to Activated Protein C Resistance|ACTIVATED PROTEIN C RESISTANCE|APC RESISTANCE|Apc Resistance, Leiden Type|Factor V Leiden Thrombophilia|Hereditary Resistance To Activated Protein C|PCCF DEFICIENCY|PROC COFACTOR DEFICIENCY|Protein C Cofactor Deficiency|THPH2|Thrombophilia due to Deficiency of Activated Protein C Cofactor|Thrombophilia due to Factor V Leiden|Thrombophilia V|THROMBOPHILIA V THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED
252600||MUCOLIPIDOSIS III ALPHA/BETA|ML III|ML IIIA|ML III ALPHA/BETA|MUCOLIPIDOSIS III|MUCOLIPIDOSIS IIIA|PSEUDO-HURLER POLYDYSTROPHY MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
C565145|123000||Craniometaphyseal Dysplasia, Autosomal Dominant|Autosomal Dominant Craniometaphyseal Dysplasia|Autosomal Recessive Craniometaphyseal Dysplasia|CMD|CMDD|CMDJ|Craniometaphyseal dysplasia autosomal dominant|Craniometaphyseal dysplasia dominant type|Craniometaphyseal dysplasia Jackson type|Craniometaphyseal Dysplasia, Jackson Type
D058729||Peripheral Arterial Disease|Arterial Disease, Peripheral|Arterial Diseases, Peripheral|Artery Disease, Peripheral|Artery Diseases, Peripheral|Disease, Peripheral Arterial|Disease, Peripheral Artery|Diseases, Peripheral Arterial|Diseases, Peripheral Artery|Peripheral Arterial Diseases|Peripheral Artery Disease|Peripheral Artery Diseases
604201||HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION|SM2 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA JAPONICUM INFECTION, INCLUDED
600886|C538137||Hyperferritinemia, hereditary, with congenital cataracts|Bonneau-Beaumont Syndrome|Dominant hyperferritinemia and cataract|Hereditary hyperferritinemia-cataract syndrome|Hereditary Hyperferritinemia with Congenital Cataracts|HHCS|Hyperferritinemia cataract syndrome|Hyperferritinemia-Cataract Syndrome|HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS|HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
610064|D009293||Opioid-Related Disorders|Abuse, Narcotic|Abuses, Narcotic|Addiction, Narcotic|Addiction, Opiate|Dependence, Narcotic|Dependence, Opiate|Disorder, Opioid-Related|Narcotic Abuse|Narcotic Abuses|Narcotic Addiction|Narcotic Dependence|ODS1|Opiate Addiction|Opiate Dependence|OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1
144650|D006954||Hyperlipoproteinemia Type V|Hyperchylomicronemia Late Onset|Hyperchylomicronemia, Late Onset|Hyperchylomicronemia, Late-Onset|Hyperchylomicronemia Late Onsets|Hyperchylomicronemias, Late-Onset|Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial|Hyperlipemia, Combined Fat And Carbohydrate Induced|Hyperlipemia, Combined Fat And Carbohydrate-Induced|Hyperlipemia, Mixed|Hyperlipemias, Mixed|Hyperlipidemias, Type V|Hyperlipidemia, Type V|Hyperlipoproteinemias, Type V|Hyperlipoproteinemia Type 5|Hyperlipoproteinemia Type 5s|Hyperlipoproteinemia, Type V|Late-Onset Hyperchylomicronemia|Late-Onset Hyperchylomicronemias|Mixed Hyperlipemia|Mixed Hyperlipemias|Type V Hyperlipidemia|Type V Hyperlipidemias|Type V Hyperlipoproteinemia|Type V Hyperlipoproteinemias
D008439||Maxillary Diseases|Disease, Maxillary|Diseases, Maxillary|Maxillary Disease
C567628|611225||Spastic Paraplegia 18, Autosomal Recessive|IDMDC|Intellectual Disability, Motor Dysfunction, and Joint Contractures|SPG18
D009767||Obesity, Morbid|Morbid Obesities|Morbid Obesity|Obesities, Morbid|Obesities, Severe|Obesity, Severe|Severe Obesities|Severe Obesity
D007105||Immune Complex Diseases|Disease, Immune Complex|Diseases, Immune Complex|Hypersensitivities, Type III|Hypersensitivity, Type III|Immune Complex Disease|Type III Hypersensitivities|Type III Hypersensitivity
D007102||Immersion Foot|Feet, Immersion|Feet, Trench|Foot, Immersion|Foot, Trench|Immersion Feet|Trench Feet|Trench Foot
D008441||Maxillary Neoplasms|Maxillary Neoplasm|Neoplasm, Maxillary|Neoplasms, Maxillary
D008440||Maxillary Fractures|Fracture, Maxillary|Fractures, Maxillary|Maxillary Fracture
C536085|308205||Ichthyosis follicularis atrichia photophobia syndrome|Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome|ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA|IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
607683|C564348||Deafness, Autosomal Dominant 52|DEAFNESS, AUTOSOMAL DOMINANT 42|DFNA42|DFNA52
252650|D009081||Mucolipidoses|Alpha/Beta, Ml III|Alpha/Beta, Mucolipidosis III|Alpha/Betas, Mucolipidosis III|Cell Disease, Inclusion|Cell Diseases, Inclusion|Cherry Red Spot Myoclonus Syndrome|Cherry Red Spot-Myoclonus Syndrome|Deficiencies, Glycoprotein Neuraminidase|Deficiency Disease, Ganglioside Sialidase|Deficiency, Glycoprotein Neuraminidase|Disease, I-Cell|Disease, Inclusion Cell|Disease, Psuedo-Hurler|Diseases, I-Cell|Diseases, Inclusion Cell|Diseases, Psuedo-Hurler|Ganglioside Sialidase Deficiency Disease|Glycoprotein Neuraminidase Deficiencies|Glycoprotein Neuraminidase Deficiency|I Cell Disease|I-Cell Disease|I-Cell Diseases|III Alpha/Beta, Mucolipidosis|III Alpha/Betas, Mucolipidosis|IIIa, Mucolipidosis|Inclusion Cell Disease|Inclusion Cell Diseases|Lipomucopolysaccharidoses|Lipomucopolysaccharidosis|ML4|Ml III Alpha/Beta|ML IV|Mucolipidoses, Type I|Mucolipidoses, Type II|Mucolipidoses, Type III|Mucolipidoses, Type IV|Mucolipidosis|Mucolipidosis I|Mucolipidosis II|Mucolipidosis II Alpha/Beta|Mucolipidosis III|Mucolipidosis IIIa|Mucolipidosis III Alpha/Beta|Mucolipidosis IIIs|Mucolipidosis Is|Mucolipidosis IV|Mucolipidosis Type 1|Mucolipidosis Type 1s|Mucolipidosis Type I|Mucolipidosis, Type I|Mucolipidosis Type II|Mucolipidosis, Type II|Mucolipidosis Type III|Mucolipidosis, Type III|Mucolipidosis Type Is|Mucolipidosis Type IV|Mucolipidosis, Type IV|Mucolipidosis Type IVs|Myoclonus Cherry Red Spot Syndrome|Myoclonus-Cherry Red Spot Syndrome|Neuraminidase Deficiencies, Glycoprotein|Neuraminidase Deficiency, Glycoprotein|Polydystrophy, Pseudo-Hurler|Pseudo Hurler Polydystrophy|Pseudo-Hurler Polydystrophy|Psuedo Hurler Disease|Psuedo-Hurler Disease|Psuedo-Hurler Diseases|Sialidoses|Sialidosis|Sialolipidoses|Sialolipidosis|Type III Mucolipidoses|Type III Mucolipidosis|Type II Mucolipidoses|Type II Mucolipidosis|Type I Mucolipidoses|Type I Mucolipidosis|Type IV Mucolipidoses|Type IV Mucolipidosis
D016537|230500||Gangliosidosis, GM1|Adult GM1 Gangliosidosis|beta Galactosidase 1 Deficiency|beta-Galactosidase-1 Deficiency|Beta Galactosidase 1 Deficiency Disease|Beta-Galactosidase-1 Deficiency Disease|Beta-Galactosidase-1 (GLB1) Deficiency|beta Galactosidase Deficiency|beta-Galactosidase Deficiency|Beta Galactosidosis|Beta-Galactosidosis|Deficiencies, GLB1|Deficiency, beta Galactosidase|Deficiency, beta-Galactosidase|Deficiency, beta-Galactosidase-1|Deficiency, GLB1|Gangliosidosis, Adult GM1|Gangliosidosis, Generalized GM1, Adult Type|Gangliosidosis, Generalized GM1, Chronic Type|Gangliosidosis, Generalized GM1, Infantile Form|Gangliosidosis, Generalized GM1, Juvenile Type|Gangliosidosis Generalized GM1, Type 1|Gangliosidosis, Generalized GM1, Type 1|Gangliosidosis, Generalized GM1 Type 2|Gangliosidosis, Generalized GM1, Type 2|GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED|Gangliosidosis, Generalized GM1, Type 3|Gangliosidosis, Generalized GM1, Type I|Gangliosidosis, Generalized GM1, Type II|Gangliosidosis, Generalized GM1, Type III|GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED|Gangliosidosis GM1|Gangliosidosis G(M1)|Gangliosidosis GM1, Adult|Gangliosidosis GM1, Infantile|Gangliosidosis GM1, Juvenile|Gangliosidosis GM1, Type 1|Gangliosidosis GM1, Type 2|Gangliosidosis GM1 Type 3|Gangliosidosis GM1, Type 3|Generalized Gangliosidosis|GLB1 Deficiency|GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED|GM1-Gangliosidoses, Type I|GM1-Gangliosidoses, Type II|GM1-Gangliosidoses, Type III|G(M1) Gangliosidosis|GM1 Gangliosidosis|GM1 Gangliosidosis, Adult|GM1 Gangliosidosis, Type I|GM1-Gangliosidosis, Type I|GM1 Gangliosidosis, Type II|GM1-Gangliosidosis, Type II|GM1 Gangliosidosis, Type III|GM1-Gangliosidosis, Type III|Infantile Gangliosidosis GM1|Juvenile Gangliosidosis GM1|Type 3 (Adult) GM1 Gangliosidosis|Type I GM1-Gangliosidoses|Type I GM1-Gangliosidosis|Type II GM1-Gangliosidoses|Type II GM1-Gangliosidosis|Type III GM1-Gangliosidoses|Type III GM1-Gangliosidosis
C567766|613080||46, XY Sex Reversal 5|46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related|46,XY SEX REVERSAL 5|46,XY SEX REVERSAL, CBX2-RELATED|Disorder Of Sex Development, 46,Xy, Cbx2-Related|Sex Reversal, Xy, Cbx2-Related|SRXY5
D058739||Aberrant Crypt Foci|Crypt Foci, Aberrant|Foci, Aberrant Crypt
D034701||Mastocytosis, Cutaneous|Bullous Mastocytoses|Bullous Mastocytosis|Cutaneous Mastocytoses|Cutaneous Mastocytoses, Diffuse|Cutaneous Mastocytosis|Cutaneous Mastocytosis, Diffuse|Mastocytoses, Bullous|Mastocytoses, Cutaneous|Mastocytoses, Skin|Mastocytosis, Bullous|Mastocytosis, Diffuse Cutaneous|Mastocytosis, Skin|Skin Mastocytoses|Skin Mastocytosis
D058734||Exsanguination|Exsanguinating Hemorrhage|Exsanguinating Hemorrhages|Hemorrhage, Exsanguinating|Hemorrhages, Exsanguinating
C537206|117360||Spinocerebellar Ataxia 29|ACV|Aplasia of cerebellar vermis|Cerebellar ataxia, congenital, nonprogressive, autosomal dominant|CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT|Cerebellar ataxia, early-onset, nonprogressive|Cerebellar vermis aplasia|CNPCA|SCA29
D058736||Intrauterine Device Migration|Device Migration, Intrauterine|Device Migrations, Intrauterine|Intrauterine Device Migrations|IUD Migration|IUD Migrations|Migration, Intrauterine Device|Migration, IUD|Migrations, Intrauterine Device|Migrations, IUD
135290|C535944||Desmoid disease, hereditary|Desmoid Tumor Caused By Somatic Mutation|Familial infiltrative fibromatosis|Fibromatosis, familial infiltrative|FIBROMATOSIS, FAMILIAL INFILTRATIVE;FIF DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED
C536697|193670||WHIM syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis
C564252|608361||Spondyloepiphyseal Dysplasia, Kimberley Type|SEDK
D046768||Nesidioblastosis|Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis|Nesidioblastoses|Nesidioblastoses, Pancreatic|Nesidioblastosis of Pancreas|Nesidioblastosis, Pancreatic|Pancreas Nesidioblastoses|Pancreas Nesidioblastosis|Pancreatic Nesidioblastoses|Pancreatic Nesidioblastosis
D058745||Iliotibial Band Syndrome|Syndrome, Iliotibial Band
C566645|601666||Diabetes Mellitus, Insulin-Dependent, 15|IDDM15|Insulin-Dependent Diabetes Mellitus 15
C562812|212138||Carnitine-Acylcarnitine Translocase Deficiency|CACTD|CACT Deficiency|Carnitine-Acylcarnitine Carrier Deficiency|Carnitine Acylcarnitine Translocase Deficiency
D009748||Nutrition Disorders|Nutritional Disorder|Nutritional Disorders|Nutrition Disorder
D008417||Mastoiditis|Mastoiditides
607507|D015535||Arthritis, Psoriatic|Arthritic Psoriasis|Arthropathies, Psoriatic|Arthropathy, Psoriatic|PSORAS1|Psoriasis, Arthritic|Psoriasis Arthropathica|Psoriatic Arthritis|PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1|Psoriatic Arthropathies|Psoriatic Arthropathy
D008415||Mastocytosis|Disease, Mast-Cell|Diseases, Mast-Cell|Mast Cell Disease|Mast-Cell Disease|Mast-Cell Diseases|Mastocytoses
D008414||Mastitis, Bovine|Bovine Mastitides|Bovine Mastitis|Mastitides, Bovine
D008413||Mastitis
D009750||Nutritional and Metabolic Diseases
C563310|601458||Inflammatory Bowel Disease 2|IBD2
D005645|230000||Fucosidosis|1, Fucosidosis Type|Alpha-Fucosidase Deficiency|alpha Fucosidase Deficiency Disease|alpha-Fucosidase Deficiency Disease|alpha-Fucosidase Deficiency Diseases|alpha-L-Fucosidase Deficiency|alpha L Fucosidase Deficiency Disease|alpha-L-Fucosidase Deficiency Disease|alpha-L-Fucosidase Deficiency Diseases|Deficiency Disease, alpha Fucosidase|Deficiency Disease, alpha-Fucosidase|Deficiency Disease, alpha L Fucosidase|Deficiency Disease, alpha-L-Fucosidase|Deficiency Disease, Fucosidase|Deficiency Diseases, alpha-Fucosidase|Deficiency Diseases, alpha-L-Fucosidase|Deficiency Diseases, Fucosidase|Disease, alpha-Fucosidase Deficiency|Disease, alpha-L-Fucosidase Deficiency|Disease, Fucosidase Deficiency|Diseases, alpha-Fucosidase Deficiency|Diseases, alpha-L-Fucosidase Deficiency|Diseases, Fucosidase Deficiency|Fucosidase Deficiency|Fucosidase Deficiency Disease|Fucosidase Deficiency Diseases|Fucosidosis, Infantile|Fucosidosis, Juvenile|Fucosidosis Type 1|Fucosidosis Type 1s|Fucosidosis Type I|Fucosidosis Type II|Infantile Fucosidosis|Juvenile Fucosidosis|Type 1, Fucosidosis|Type 1s, Fucosidosis
C564522|300387||Mental Retardation, X-Linked 63|Mental Retardation, X-Linked 68|MRX63|MRX68
C562735|166350||Osseous Heteroplasia, Progressive|Cutaneous Ossification|Ectopic Ossification, Familial|Osteodermia|Osteoma Cutis|Osteosis Cutis|POH|Progressive Osseous Heteroplasia
C537409|300755||Bruton type agammaglobulinemia|Agammaglobulinemia, Bruton tyrosine kinase|Agammaglobulinemia, BTK|Agammaglobulinemia, X-Linked|AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1|Agammaglobulinemia, X-Linked, Type I|AGMX1|Bruton&apos;s Agammaglobulinemia|Bruton-Type Agammaglobulinemia|Bruton-type (congenital X-linked) agammaglobulinemia|Congenital Agammaglobulinemia|Immunodeficiency 1|IMMUNODEFICIENCY 1;IMD1 HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED|XLA|X-linked agammaglobulinemia
C567818|613006||Diabetes Mellitus, Insulin-Dependent, 24|IDDM24
C565261|606071||Hereditary Motor And Sensory Neuropathy, Type IIC|Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C|Charcot-Marie-Tooth Neuropathy, Type 2C|CMT2C|HMSN2C|HMSN IIC
D046789||Chondromalacia Patellae|Patella, Chondromalacia Of
C567691|613225||Factor Xiii, A Subunit, Deficiency Of
C565232|606367||Interleukin 2 Receptor, Alpha, Deficiency of|CD25 Deficiency|IL2RA Deficiency
D046788||Patellofemoral Pain Syndrome|Anterior Knee Pain Syndrome|Pain Syndrome, Patellofemoral|Patellofemoral Syndrome
151900||LIPOMATOSIS, MULTIPLE|FML|LIPO|LIPOMA|LIPOMATOSIS, FAMILIAL MULTIPLE
C563922|608474||Myopia 5|MYOPIA 5, AUTOSOMAL DOMINANT|MYP5
184250|C537501||Strudwick syndrome|Dappled metaphysis syndrome|Sed Strudwick|SEMDC|Semd, Strudwick Type|SEMDSTWK|SMD|Smed, Strudwick Type|Smed, Type I|Spondyloepimetaphyseal dysplasia, Strudwick type|Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type|Spondylometaphyseal Dysplasia|Spondylometaphyseal Dysplasia (Smd)|STRUDWICK SYNDROME
D056104||Commotio Cordis|Cardiac Concussion|Cardiac Concussions|Concussion, Cardiac|Concussions, Cardiac
C567034|610978||Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress|Brain-Lung-Thyroid Syndrome|CAHTP|Choreoathetosis And Congenital Hypothyroidism|CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
C563685|609923||Retinitis Pigmentosa 31|RP31
D045463||Avulavirus Infections|Avulavirus Infection|Infection, Avulavirus|Infections, Avulavirus
D045464||Henipavirus Infections|Henipavirus Infection|Infection, Henipavirus|Infections, Henipavirus
C535274|309610||Prieto X-linked mental retardation syndrome|Mental retardation, X-linked, syndromic 2|Mental retardation, X-linked with dysmorphism and cerebral atrophy|Mental Retardation, X-Linked, With Dysmorphism And Cerebral Atrophy|MRXS2|Prieto syndrome|PRS|X-linked dysmorphic syndrome with mental retardation
300511|C564498||Premature Ovarian Failure 2a|POF2A
C538212|300009||Dent disease 1|Nephrolithiasis 2|Nephrolithiasis, hypercalciuria, x-linked|Nephrolithiasis, Hypercalciuric, X-Linked|Nphl2|Urolithiasis, Hypercalciuric, X-Linked
256540|C536411||Neuraminidase deficiency with beta-galactosidase deficiency|Cathepsin A Deficiency|Cathepsin A, deficiency of|Deficiency of Cathepsin A|Galactosialidosis|Goldberg syndrome|GSL|Lysosomal Protective Protein Deficiency|Lysosomal protective protein, deficiency of|NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION|NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY|NGBE|PPCA DEFICIENCY|Protective protein-Cathepsin A deficiency|PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY
607655|C564359||Skin Fragility-Woolly Hair Syndrome|SFWHS
310460|C564091||Myopia 1|MYOPIA 1, X-LINKED|Myopia, X-Linked|MYP1
249900|C562609||Metachromatic Leukodystrophy due to Saposin B Deficiency|Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency|Saposin B Deficiency
C536187||Ectrodactyly cardiopathy dysmorphism|Ectrodactyly of lower limbs, congenital heart defect and characteristic facies|Van Den Ende Brunner syndrome
C536184||Familial ectopia lentis|Ectopia Lentis, Familial|Ectopia lentis isolated|Ectopia Lentis, Isolated|Isolated ectopia lentis
C562472||Teratoma, Testicular
C562477||Halothane Hepatitis
C562478||Hypogammaglobulinemia, X-Linked
C536188||Blepharo-cheilo-dontic syndrome|Blepharocheilodontic syndrome|Clefting, ectropion, and conical teeth|Elschnig syndrome|Lagophthalmia with bilateral cleft lip and palate
C536189||Ectrodactyly-cleft lip/palate syndrome|Cleft lip-cleft palate-lobster claw deformity syndrome|Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|EEC syndrome|Rudiger syndrome 1|Walker-Clodius syndrome
C567305|612448||Age-Related Hearing Impairment 1|ARHI1|Presbycusis 1
611093|C567016||Mental Retardation, Autosomal Recessive 7|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22|MRT22|MRT7
C537537|605407||Segawa syndrome, autosomal recessive|Autosomal Recessive Infantile Parkinsonism|Dopa-Responsive Dystonia, Autosomal Recessive|DOPA responsive dystonia, autosomal recessive|Dystonia, Dopa-Responsive, Autosomal Recessive|Dystonia, DOPA responsive, autosomal recessive|Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive|Parkinsonism, infantile, autosomal recessive|Th-Deficient Drd|Tyrosine Hydroxylase Deficiency
C566236|108985||Sveinsson Chorioretinal Atrophy|AA|Atrophia Areata|Helicoidal Peripapillary Chorioretinal Degeneration|HPCD|Peripapillary Chorioretinal Degeneration, Icelandic Type|SCRA
D044148||Lymphatic Abnormalities|Abnormalities, Lymphatic|Abnormality, Lymphatic|Lymphatic Abnormality
C536182||Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
275350||TRANSCOBALAMIN II DEFICIENCY|TC II DEFICIENCY|TCN2 DEFICIENCY
C536180||Ectodermal dysplasia, hidrotic, Christianson-Fourie type
C566921|611548||Premature Ovarian Failure 5|Pof5
607196|C538247||Amish lethal microcephaly|AMISH LETHAL MICROCEPHALY|Amish Microcephaly|MCPHA|Microcephaly, Amish type|THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)|THMD3
D056124||Slit Ventricle Syndrome|Slit Ventricle Syndromes|Syndrome, Slit Ventricle|Syndromes, Slit Ventricle
D006010|232400||Glycogen Storage Disease Type III|AGL DEFICIENCY|Amylo-1,6-Glucosidase Deficiencies|Amylo 1,6 Glucosidase Deficiency|Amylo-1,6-Glucosidase Deficiency|Cori Disease|Cori&apos;s Disease|Coris Disease|Debrancher Deficiencies|Debrancher Deficiencies, Glycogen|Debrancher Deficiency|Debrancher Deficiency, Glycogen|Deficiencies, Amylo-1,6-Glucosidase|Deficiencies, Debrancher|Deficiencies, Glycogen Debrancher|Deficiency, Amylo-1,6-Glucosidase|Deficiency, Debrancher|Deficiency, Glycogen Debrancher|Dextrinoses, Limit|Dextrinosis, Limit|Disease, Cori|Disease, Cori&apos;s|Disease, Forbes|Forbes Disease|GDE DEFICIENCY GLYCOGEN STORAGE DISEASE IIIa, INCLUDED|Glycogen Debrancher Deficiencies|Glycogen Debrancher Deficiency|Glycogen Debranching Enzyme Deficiency|Glycogenosis 3|Glycogenosis 3s|Glycogen Storage Disease III|GLYCOGEN STORAGE DISEASE IIIb, INCLUDED|GLYCOGEN STORAGE DISEASE IIIc, INCLUDED|GLYCOGEN STORAGE DISEASE IIId, INCLUDED|Glycogen Storage Disease Type 3|GSD3|GSD IIIa, INCLUDED|GSD IIIb, INCLUDED|GSD IIIc, INCLUDED|GSD IIId, INCLUDED|Limit Dextrinoses|Limit Dextrinosis
D014286||Trilogy of Fallot|Fallot&apos;s Trilogy|Fallots Trilogy|Fallot Trilogy|Trilogy, Fallot&apos;s
C562481||Urticaria, Aquagenic
D056128||Obesity, Abdominal|Abdominal Obesities|Abdominal Obesity|Central Obesities|Central Obesity|Obesities, Abdominal|Obesities, Central|Obesities, Visceral|Obesity, Central|Obesity, Visceral|Visceral Obesities|Visceral Obesity
139393|D020275||Guillain-Barre Syndrome|Acute Autoimmune Neuropathies|Acute Autoimmune Neuropathy|Acute Infectious Polyneuritis|Acute Inflammatory Demyelinating Polyneuropathy|Acute Inflammatory Demyelinating Polyradiculoneuropathy|Acute Inflammatory Polyneuropathies|Acute Inflammatory Polyneuropathy|Acute, Inflammatory Polyneuropathy|Acute Inflammatory Polyradiculoneuropathies|Acute Inflammatory Polyradiculoneuropathy|Autoimmune Neuropathies, Acute|Autoimmune Neuropathy, Acute|CIDP, INCLUDED|Demyelinating Polyradiculoneuropathy, Acute Inflammatory|GBS|Guillain Barre Syndrome|Guillain-Barr&#233; Syndrome|Guillain-Barre Syndrome, Familial|Guillaine Barre Syndrome|Guillaine-Barre Syndrome|Inflammatory Demyelinating Polyradiculoneuropathy, Acute|Inflammatory Polyneuropathies, Acute|Inflammatory Polyneuropathy Acute|Inflammatory Polyneuropathy, Acute|Inflammatory Polyneuropathy Acutes|Inflammatory Polyradiculoneuropathies, Acute|Landry Guillain Barre Syndrome|Landry-Guillain-Barre Syndrome|Neuropathies, Acute Autoimmune|Neuropathy, Acute Autoimmune|Polyneuropathies, Acute Inflammatory|Polyneuropathy Acute, Inflammatory|Polyneuropathy, Acute Inflammatory|Polyneuropathy, Inflammatory Demyelinating, Acute|POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE;AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC, INCLUDED|Polyradiculoneuropathies, Acute Inflammatory|Polyradiculoneuropathy, Acute Inflammatory|Polyradiculoneuropathy, Acute Inflammatory Demyelinating|Syndrome, Guillain-Barre|Syndrome, Guillaine-Barre|Syndrome, Landry-Guillain-Barre
C562484||Hairy Ears|Hypertrichosis Pinnae Auris
C536197||Ehlers-Danlos syndrome type 5|Ehlers-Danlos Syndrome, Type V
C562485||Pili Torti|Twisted Hair
C567377|612262||Inflammatory Bowel Disease 18|IBD18
C562483||Granulosis Rubra Nasi
C562489||Lymphoid Interstitial Pneumonia
C562486||Perifolliculitis Capitis Abscedens Et Suffodiens, Familial|Dissecting Cellulitis of the Scalp
C564596|607304||Cataract, Nuclear Progressive|CATARACT 27|CATARACT 27, NUCLEAR PROGRESSIVE|Cataract, Congenital, Nuclear Progressive|CCNP|CTRCT27
C536199||Ehlers-Danlos syndrome, Beasley Cohen type|Ehlers-Danlos Syndrome, Beasley-Cohen Type|Ehlers-Danlos syndrome with mental retardation, deafness, and cataract
C562487||Eosinophilic Fasciitis
D007645|248300||Keratoderma, Palmoplantar|de Meleda, Mal|Disease, Meleda|Hyperkeratosis Palmaris et Plantaris|Keratodermas, Palmoplantar|Keratoses, Palmoplantar|Keratosis Palmaris et Plantaris|Keratosis, Palmoplantar|Keratosis Palmoplantaris Transgradiens of Siemens|KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS|Mal de Meleda|MDM|Meleda Disease|Meleda, Mal de|Palmoplantar Keratoderma|Palmoplantar Keratodermas|Palmoplantar Keratoses|Palmoplantar Keratosis
222800||BISPHOSPHOGLYCERATE MUTASE DEFICIENCY|BISPHOSPHOGLYCEROMUTASE DEFICIENCY|BPGM DEFICIENCY|DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE|DPGM DEFICIENCY
C536742|241080||Woodhouse Sakati syndrome|Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, and Alopecia|Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome|HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME|Woodhouse-Sakati Syndrome
C562492||Robinow Syndrome, Autosomal Dominant|Acral Dysostosis with Facial and Genital Abnormalities|Fetal Face Syndrome|Mesomelic Dwarfism-Small Genitalia Syndrome|Robinow Dwarfism|Robinow-Silverman-Smith Syndrome|Robinow Syndrome
C562451||Hyperbilirubinemia, Shunt
C563781||Erythrokeratoderma, Reticular|Aarau Disease
C563780||Branchiogenic-Deafness Syndrome
C563787||Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
C562456||Volvulus Of Midgut
C567686|613243||Cardiomyopathy, Familial Hypertrophic, 13|CMH13
C563784||Arrhythmogenic Right Ventricular Dysplasia, Familial, 7|Arrhythmogenic Right Ventricular Cardiomyopathy 7|Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myopathy, Desmin-Related, with Arrhythmogenic Right Ventricular Cardiomyopathy
C566381|603387||Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome|Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development|Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome|MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME|Meg-Pmg-Megacc Syndrome|MPPH
D002288||Adenocarcinoma, Mucinous|Adenocarcinomas, Mucinous|Carcinoma, Colloid|Carcinoma, Mucinous|Carcinomas, Colloid|Carcinomas, Mucinous|Colloid Carcinoma|Colloid Carcinomas|Mucinous Adenocarcinoma|Mucinous Adenocarcinomas|Mucinous Carcinoma|Mucinous Carcinomas
D002289||Carcinoma, Non-Small-Cell Lung|Carcinoma, Non Small Cell Lung|Carcinoma, Non-Small Cell Lung|Carcinomas, Non-Small-Cell Lung|Lung Carcinoma, Non-Small-Cell|Lung Carcinomas, Non-Small-Cell|Nonsmall Cell Lung Cancer|Non-Small Cell Lung Cancer|Non Small Cell Lung Carcinoma|Non-Small-Cell Lung Carcinoma|Non-Small-Cell Lung Carcinomas
D056150||Acute Generalized Exanthematous Pustulosis|Acute Localized Exanthematous Pustulosis|Pustulosis, Exanthematous, Acute Generalized|Pustulosis, Exanthematous, Acute Localized
D002284||Carcinoma, Brown-Pearce|Brown-Pearce Carcinoma|Brown-Pearce Epithelioma|Carcinoma, Brown Pearce|Epithelioma, Brown Pearce|Epithelioma, Brown-Pearce
D002285||Carcinoma, Intraductal, Noninfiltrating|Carcinoma, Intraductal|Carcinoma, Noninfiltrating Intraductal|Carcinomas, Intraductal|Carcinomas, Noninfiltrating Intraductal|DCIS|Ductal Carcinoma In Situ|Intraductal Carcinoma|Intraductal Carcinoma, Noninfiltrating|Intraductal Carcinomas|Intraductal Carcinomas, Noninfiltrating|Noninfiltrating Intraductal Carcinoma|Noninfiltrating Intraductal Carcinomas
D002286||Carcinoma, Ehrlich Tumor|Ascites Tumor, Ehrlich|Ehrlich Ascites Tumor|Ehrlich Tumor Carcinoma|Tumor, Ehrlich Ascites
C535896|601287||Limb-girdle muscular dystrophy type 2F|LGMD2F|Muscular Dystrophy, Limb-Girdle, Type 2F|Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
D002287||Carcinoma, Krebs 2|Krebs 2 Carcinoma
C563690|609909||Cardiomyopathy, Dilated, 1p|CMD1P
D002291||Carcinoma, Papillary|Carcinomas, Papillary|Papillary Carcinoma|Papillary Carcinomas
D056146||Corpse Dismemberment|Cadaver Dismemberment|Cadaver Dismemberments|Corpse Dismemberments|Dismemberment, Cadaver|Dismemberment, Corpse|Dismemberments, Cadaver|Dismemberments, Corpse
D002293||Adenocarcinoma, Scirrhous|Adenocarcinomas, Scirrhous|Carcinoma, Scirrhous|Carcinomas, Scirrhous|Scirrhous Adenocarcinoma|Scirrhous Adenocarcinomas|Scirrhous Carcinoma|Scirrhous Carcinomas
D002294||Carcinoma, Squamous Cell|Carcinoma, Epidermoid|Carcinoma, Planocellular|Carcinomas, Epidermoid|Carcinomas, Planocellular|Carcinoma, Squamous|Carcinomas, Squamous|Carcinomas, Squamous Cell|Epidermoid Carcinoma|Epidermoid Carcinomas|Planocellular Carcinoma|Planocellular Carcinomas|Squamous Carcinoma|Squamous Carcinomas|Squamous Cell Carcinoma|Squamous Cell Carcinomas
D015597||Pregnancy Complications, Parasitic|Complication, Parasitic Pregnancy|Complications, Parasitic Pregnancy|Complications Pregnancies, Parasitic|Complications Pregnancy, Parasitic|Parasitic Complications Pregnancies|Parasitic Complications Pregnancy|Parasitic Pregnancy Complication|Parasitic Pregnancy Complications|Pregnancies, Parasitic Complications|Pregnancy Complication, Parasitic|Pregnancy, Parasitic Complications
D014264||Tricuspid Valve Stenosis|Stenoses, Tricuspid Valve|Stenosis, Tricuspid Valve|Tricuspid Valve Stenoses|Valve Stenoses, Tricuspid|Valve Stenosis, Tricuspid
D014263||Tricuspid Valve Prolapse|Prolapses, Tricuspid Valve|Prolapse, Tricuspid Valve|Tricuspid Valve Prolapses|Valve Prolapses, Tricuspid|Valve Prolapse, Tricuspid
D015594||Optic Disk Drusen|Drusen, Optic Disc|Drusen, Optic Disk|Drusen, Optic Nerve|Optic Disc Drusen|Optic Disc Drusens|Optic Disk Drusens|Optic Nerve Drusen
182212|C537328||Shprintzen Golberg craniosynostosis|Craniosynostosis and Marfanoid disorder, type 1|Craniosynostosis with arachnodactyly and abdominal hernias|Marfanoid craniosynostosis syndrome|Marfanoid-Craniosynostosis Syndrome|Marfanoid Disorder With Craniosynostosis, Type I|SGS|Shprintzen Golberg craniosynostosis syndrome|Shprintzen-Goldberg Craniosynostosis Syndrome|Shprintzen-Goldberg Syndrome
C536632|269150||Schinzel-Giedion syndrome|Schinzel Giedion midface-retraction syndrome|Schinzel-Giedion Midface Retraction Syndrome|Schinzel-Giedion Midface-Retraction Syndrome|Schinzel Giedion syndrome|SGS
C562463||Pancreatic Carcinoma|Pancreatic Acinar Carcinoma
C562461||Annular Erythema
C567475|300707||Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations|STAR|STAR Syndrome|Syndactyly with Renal and Anogenital Malformations
226730|C535377||Epidermolysis bullosa with pyloric atresia|Aplasia cutis congenita with gastrointestinal atresia|Carmi syndrome|Eb-Pa|EB-PA-ACC|Epidermolysis Bullosa Junctionalis With Pyloric Atresia|Epidermolysis Bullosa, Junctional, With Pyloric Atresia|Epidermylosis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita|JEB-PA|Junctional Epidermolysis Bullosa With Pyloric Atresia|Pa-Jeb
C562464||Polyposis, Gastric
208540||RENAL-HEPATIC-PANCREATIC DYSPLASIA 1|RHPD|RHPD1
C562469||Paralysis Agitans, Juvenile, Of Hunt|Parkinson Disease, Juvenile, Of Hunt
C565551|231095||Ghosal Hematodiaphyseal Dysplasia|GHDD|Ghosal Syndrome
D002295||Carcinoma, Transitional Cell|Carcinomas, Transitional Cell|Cell Carcinomas, Transitional|Cell Carcinoma, Transitional|Transitional Cell Carcinoma|Transitional Cell Carcinomas
D002296||Carcinosarcoma|Carcinosarcomas
180550|C535684||Ring dermoid of cornea|Bilateral, annular limbal dermoids with corneal and conjunctival extension|RDC|Ring dermoid syndrome
C537393|601321||Neurofibromatosis-Noonan syndrome|Neurofibromatosis with Noonan phenotype|NFNS|Noonan neurofibromatosis syndrome|Noonan-Neurofibromatosis Syndrome
C565324|605543||Parkinson Disease 4, Autosomal Dominant Lewy Body|Park4|PARKINSON DISEASE 4, AUTOSOMAL DOMINANT|PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY
300607|C564474||Hyperekplexia and Epilepsy|EIEE8|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8|HYPEREKPLEXIA AND EPILEPSY
D056151||Airway Remodeling|Airway Remodeling, Asthmatic|Airway Remodelings|Airway Remodelings, Asthmatic|Airway Remodeling, Small|Airway Remodelings, Small|Airway Remodelling|Airway Remodelling, Asthmatic|Airway Remodellings|Airway Remodellings, Asthmatic|Airway Remodelling, Small|Airway Remodellings, Small|Airway Wall Remodelling|Airway Wall Remodellings|Asthmatic Airway Remodeling|Asthmatic Airway Remodelings|Asthmatic Airway Remodelling|Asthmatic Airway Remodellings|Asthmatic Airway Wall Remodeling|Asthmatic Airway Wall Remodelling|Remodeling, Airway|Remodeling, Asthmatic Airway|Remodelings, Airway|Remodelings, Asthmatic Airway|Remodeling, Small Airway|Remodelings, Small Airway|Remodelling, Airway|Remodelling, Airway Wall|Remodelling, Asthmatic Airway|Remodellings, Airway|Remodellings, Airway Wall|Remodellings, Asthmatic Airway|Remodelling, Small Airway|Remodellings, Small Airway|Small Airway Remodeling|Small Airway Remodelings|Small Airway Remodelling|Small Airway Remodellings|Wall Remodelling, Airway|Wall Remodellings, Airway
604273||MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
D014277||Trigeminal Neuralgia|Disease, Fothergill|Epileptiform Neuralgia|Epileptiform Neuralgias|Fothergill Disease|Idiopathic Trigeminal Neuralgia|Idiopathic Trigeminal Neuralgias|Neuralgia, Epileptiform|Neuralgia, Idiopathic Trigeminal|Neuralgia, Secondary Trigeminal|Neuralgias, Epileptiform|Neuralgias, Idiopathic Trigeminal|Neuralgias, Secondary Trigeminal|Neuralgias, Trifacial|Neuralgias, Trigeminal|Neuralgia, Trifacial|Neuralgia, Trigeminal|Secondary Trigeminal Neuralgia|Secondary Trigeminal Neuralgias|Tic Douloureux|Trifacial Neuralgia|Trifacial Neuralgias|Trigeminal Neuralgia, Idiopathic|Trigeminal Neuralgias|Trigeminal Neuralgia, Secondary|Trigeminal Neuralgias, Idiopathic|Trigeminal Neuralgias, Secondary
D038223||Post-Concussion Syndrome|Chronic Post-Concussive Syndrome|Chronic Post-Concussive Syndromes|Post-Concussion Symptom|Post Concussion Symptoms|Post-Concussion Symptoms|Post Concussion Syndrome|Post-Concussive Symptom|Post Concussive Symptoms|Post-Concussive Symptoms|Post Concussive Syndrome|Post-Concussive Syndrome|Post Concussive Syndrome, Chronic|Post-Concussive Syndrome, Chronic|Post-Concussive Syndromes|Post-Concussive Syndromes, Chronic|Symptom, Post-Concussive|Syndrome, Chronic Post-Concussive|Syndrome, Post-Concussive|Syndromes, Chronic Post-Concussive|Syndromes, Post-Concussive
C567435|612017||Pyloric Stenosis, Infantile Hypertrophic, 3|IHPS3
C566916|611560||Joubert Syndrome 7|JBTS7
C537473||Milner Khallouf Gibson syndrome
C536142||Megalencephaly cutis marmorata telangiectatica congenita|Macrocephaly-Capillary Malformation|Macrocephaly cutis marmorata telangiectatica congenita|Macrocephaly-Cutis Marmorata Telangiectatica Congenita|Megalencephaly-Cutis Marmorata Telangiectatica Congenita|Megalocephaly cutis marmorata telangiectatica congenita
C537474||Minicore myopathy, antenatal onset, with arthrogryposis|Multicore myopathy, antenatal onset, with arthrogryposis|Multiminicore myopathy, antenatal onset, with arthrogryposis
C536143||Neuhauser syndrome|Cerebral palsy-hypotonic seizures-megalcornea syndrome|Megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome|Megalocornea mental retardation syndrome|Megalocornea-Mental Retardation Syndrome|MMR syndrome|Seizures-hypotonic cerebral palsy-megalocornea-mental retardation syndrome
C536915|188550||Thyroid cancer, papillary|Familial Nonmedullary Thyroid Cancer|FAMILIAL NONMEDULLARY THYROID CANCER, PAPILLARY|Nonmedullary Thyroid Carcinoma|NONMEDULLARY THYROID CARCINOMA, PAPILLARY|PACT|Papillary Carcinoma Of Thyroid|Papillary thyroid carcinoma|PTC|Thyroid carcinoma, papillary|TPC
C537471||Midphalangeal hair|Middigital hair
C536140||Megaepiphyseal dwarfism|Chondrodystrophy with Sensorineural Deafness|Insley-Astley syndrome|Mega-epiphyseal dwarfism|Nance-Insley syndrome|Nance Sweeney chondrodysplasia|Nance-Sweeney Chondrodysplasia|Otospondylomegaepiphyseal dysplasia|Oto-Spondylo-Megaepiphyseal Dysplasia|Oto-Spondylo-Mega-Epiphyseal Dysplasia
C563765||Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate|Marie Unna-Like Scalp Hypotrichosis
C537477||Mitochondrial neurogastrointestinal encephalopathy syndrome|Mitochondrial DNA Depletion Syndrome 1|Mitochondrial DNA Depletion Syndrome 8A|Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy, Autosomal Recessive|Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction|Mitochondrial Neurogastrointestinal Encephalopathy Disease|Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related|MNGIE Disease|Mngie, Rrm2b-Related|MNGIE Syndrome|Mngie Without Leukoencephalopathy|Myoneurogastrointestinal encephalopathy syndrome|Oculogastrointestinal Muscular Dystrophy|POLIP Syndrome|Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction|Thymidine Phosphorylase Deficiency
C536146||Mehes syndrome
C537478||Mitral valve prolapse, familial, X-linked|Barlow syndrome|Mitral regurgitation, familial|Myxomatous valvular disease, familial
C536147||Mehta Lewis Patton syndrome|Congenital heart disease, ptosis, hypodontia, and craniosynostosis
C536144||Megalocytic interstitial nephritis|Interstitial megalocytic nephritis|Transplant megalocytic interstitial nephritis (type)
137440|D016098||Gerstmann-Straussler-Scheinker Disease|AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY|CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS|Disease, Gerstmann-Straussler|Diseases, Gerstmann-Straussler|Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type|Gerstmann Straussler Disease|Gerstmann-Straussler Disease|Gerstmann-Straussler Diseases|Gerstmann Straussler Inherited Spongiform Encephalopathy|Gerstmann-Straussler Inherited Spongiform Encephalopathy|Gerstmann Straussler Scheinker Disease|GERSTMANN-STRAUSSLER-SCHEINKER DISEASE|Gerstmann Straussler Scheinker Syndrome|Gerstmann-Straussler-Scheinker Syndrome|Gerstmann Straussler Syndrome|Gerstmann-Straussler Syndrome|GSD|GSS|Inherited Spongiform Encephalopathy, Gerstmann Straussler|Inherited Spongiform Encephalopathy, Gerstmann-Straussler|PRION DEMENTIA CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED
C537476||Mitochondrial myopathy with lactic acidosis
C536145||Megarbane syndrome
C562438||Hemangiomatosis, Cutaneous, with Associated Features
C562435||Choanal Atresia, Posterior
603622|C538050||Deafness, autosomal dominant nonsyndromic sensorineural 17|COCHLEOSACCULAR DEGENERATION, INCLUDED|DEAFNESS, AUTOSOMAL DOMINANT 17|DFNA17|Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
C537483|604360||Spastic paraplegia 11, autosomal recessive|HSP-TCC|Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum|Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum|SPG11
C567408|612138||Epidermolysis Bullosa Simplex With Pyloric Atresia|Ebs-Pa|Ebs With Pyloric Atresia
C567382|612247||Crouzon Syndrome With Acanthosis Nigricans|CAN|Crouzonodermoskeletal Syndrome
D002270||Carbuncle|Carbuncles
C566617|601846||Vacuolar Neuromyopathy|MDRV|Muscular Dystrophy, Autosomal Dominant, With Rimmed Vacuoles
191181||SUPPRESSOR OF TUMORIGENICITY 3|CCTS|CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN|ST3|TSHL|TUMOR-SUPPRESSOR GENE, HELA CELL TYPE
C567057|610852||Ciliary Dyskinesia, Primary, 6|CILD6
C536139||Megaduodenum|Fetal megacystis|Megacystis
C565629|222400||Diaphragmatic Hernia 2|DIH2
C537468||Microspherophakia with hernia
C537469||Microtia, meatal atresia and conductive deafness|Familial microtia and meatal atresia|Familial microtia with meatal atresia and conductive deafness|Gupta Patton syndrome|Microtia meatal atresia deafness dominant|Microtia with meatal atresia and conductive deafness
C536138||Megacystis microcolon intestinal hypoperistalsis syndrome|Berdon syndrome|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
C563375|239200||Hyperparathyroidism, Neonatal Severe Primary|HYPERPARATHYROIDISM, NEONATAL SEVERE|HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY|NHPT|NSHPT|NSPH
D014247||Trichomonas Vaginitis|Trichomonas Vaginitides|Vaginitides, Trichomonas|Vaginitis, Trichomonas
D014245||Trichomonas Infections|Infections, Trichomonas|Infection, Trichomonas|Trichomonas Infection
D015576||Hyperostosis|Bone Hypertrophies|Bone Hypertrophy|Hyperostoses|Hypertrophies, Bone|Hypertrophy, Bone
C563772||Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
C536153||Keratoderma palmoplantar spastic paralysis|Axonal neuropathy with palmoplantar keratoderma|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy|Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy
C536154||Keratoderma palmoplantaris transgrediens|Erythrokeratodermia figurata, congenital familial, in plaques|Erythrokeratodermia variabilis with erythema gyratum repens|Keratosis palmoplantaris transgrediens et progrediens
248600|D008375||Maple Syrup Urine Disease|BCKD Deficiency|Branched Chain alpha Keto Acid Dehydrogenase Deficiency|Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency|Branched Chain Ketoaciduria|Branched-Chain Ketoaciduria|Branched-Chain Ketoacidurias|Classical Maple Syrup Urine Disease|Classic Maple Syrup Urine Disease|Intermediate Maple Syrup Urine Disease|Intermittent Maple Syrup Urine Disease|Keto Acid Decarboxylase Deficiency|KETO ACID DECARBOXYLASE DEFICIENCY MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED|Ketoaciduria, Branched-Chain|Ketoacidurias, Branched-Chain|Maple Syrup Urine Disease, Classic|Maple Syrup Urine Disease, Classical|Maple Syrup Urine Disease, Intermediate|MAPLE SYRUP URINE DISEASE, INTERMEDIATE, INCLUDED|Maple Syrup Urine Disease, Intermittent|MAPLE SYRUP URINE DISEASE, INTERMITTENT, INCLUDED|Maple Syrup Urine Disease, Thiamine Responsive|Maple Syrup Urine Disease, Thiamine-Responsive|MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, INCLUDED|MAPLE SYRUP URINE DISEASE, TYPE IA, INCLUDED|MAPLE SYRUP URINE DISEASE, TYPE IB, INCLUDED|MAPLE SYRUP URINE DISEASE, TYPE II, INCLUDED|MSUD|MSUD1A, INCLUDED|MSUD1B, INCLUDED|MSUD2, INCLUDED|MSUD (Maple Syrup Urine Disease)|Thiamine Responsive Maple Syrup Urine Disease
C536151||Keratoconus posticus circumscriptus
C537488||Stern Lubinsky Durrie syndrome
C536157||Keratosis focal palmoplantar gingival|Focal Palmoplantar and Gingival Hyperkeratosis Syndrome|Focal palmoplantar and oral mucosa hyperkeratosis|Keratosis, Focal Palmoplantar and Gingival
D014262||Tricuspid Valve Insufficiency|Incompetence, Tricuspid|Incompetence, Tricuspid Valve|Insufficiency, Tricuspid Valve|Regurgitation, Tricuspid|Regurgitation, Tricuspid Valve|Tricuspid Incompetence|Tricuspid Regurgitation|Tricuspid Valve Incompetence|Tricuspid Valve Regurgitation|Valve Incompetence, Tricuspid|Valve Insufficiency, Tricuspid|Valve Regurgitation, Tricuspid
D015593||Retinal Drusen|Drusen, Retinal
C537489||Sternal cleft|Congenital sternal cleft
C536158||Keratosis follicularis dwarfism cerebral atrophy|Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
C537277|610293||Glycosylphosphatidylinositol deficiency|GPI DEFICIENCY
C562442||Mucopolysaccharidoses, Unclassified Types
C567543|613079||Deafness, Autosomal Recessive 77|DFNB77
D018814|162300||Multiple Endocrine Neoplasia Type 2b|MEA 2b|MEA IIb|MEN2b|MEN 2b|MEN 3|MEN IIb|MEN III|Mucosal Neuroma Syndrome|Mucosal Neuroma Syndromes|Multiple Endocrine Neoplasia, Type 2b|Multiple Endocrine Neoplasia, Type IIb|MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY;MEN3, FORMERLY MUCOSAL NEUROMA SYNDROME, INCLUDED|Multiple Endocrine Neoplasms Type 2b|Neoplasia, Multiple Endocrine Type 2b|Neoplasms, Multiple Endocrine Type 2b|Neuroma Syndrome, Mucosal|Neuromata, Mucosal, With Endocrine Tumors|Syndrome, Wagenmann-Froboese|Wagenmann Froboese Syndrome|Wagenmann-Froboese Syndrome
C562443||Weaver-Like Syndrome
C537487||Steatocystoma multiplex with natal teeth|Natal teeth and steatocystoma multiplex
C536156||Keratomalacia|Retinol Deficiency|Xerotic Keratitis
D002277||Carcinoma|Anaplastic Carcinoma|Anaplastic Carcinomas|Carcinoma, Anaplastic|Carcinomas|Carcinomas, Anaplastic|Carcinoma, Spindle Cell|Carcinoma, Spindle-Cell|Carcinomas, Spindle-Cell|Carcinomas, Undifferentiated|Carcinomatoses|Carcinomatosis|Carcinoma, Undifferentiated|Epithelial Neoplasm, Malignant|Epithelial Neoplasms, Malignant|Epithelial Tumor, Malignant|Epithelial Tumors, Malignant|Epithelioma|Epitheliomas|Malignant Epithelial Neoplasm|Malignant Epithelial Neoplasms|Malignant Epithelial Tumor|Malignant Epithelial Tumors|Neoplasm, Malignant Epithelial|Neoplasms, Malignant Epithelial|Spindle-Cell Carcinoma|Spindle-Cell Carcinomas|Tumor, Malignant Epithelial|Tumors, Malignant Epithelial|Undifferentiated Carcinoma|Undifferentiated Carcinomas
C537880|607330||Lathosterolosis|3-beta-hydroxysteroid-delta(5)-desaturase deficiency|Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase|SC5D DEFICIENCY|Sterol C5-Desaturase Deficiency
D002278||Carcinoma in Situ|Carcinoma, Intraepithelial|Carcinoma, Preinvasive|Intraepithelial Carcinoma|Intraepithelial Neoplasm|Intraepithelial Neoplasms|Neoplasm, Intraepithelial|Neoplasms, Intraepithelial|Preinvasive Carcinoma
C562446||Russell-Silver Syndrome, X-Linked|Russell-Silver-Like Syndrome with Skin Pigmentation
D002279||Carcinoma 256, Walker|Carcinosarcoma 256, Walker|Walker Carcinoma 256|Walker Carcinosarcoma 256
D002275||Carcinoid Heart Disease|Carcinoid Heart Diseases|Heart Disease, Carcinoid|Heart Diseases, Carcinoid
D002276||Carcinoid Tumor|Argentaffinoma|Argentaffinomas|Carcinoid|Carcinoid, Goblet Cell|Carcinoids|Carcinoids, Goblet Cell|Carcinoid Tumors|Goblet Cell Carcinoid|Goblet Cell Carcinoids|Tumor, Carcinoid|Tumors, Carcinoid
D002281||Carcinoma, Basosquamous|Basosquamous Carcinoma|Basosquamous Carcinomas|Carcinomas, Basosquamous
D002282||Adenocarcinoma, Bronchiolo-Alveolar|Adenocarcinoma, Alveolar|Adenocarcinoma, Bronchiolo Alveolar|Adenocarcinomas, Alveolar|Adenocarcinomas, Bronchiolo-Alveolar|Alveolar Adenocarcinoma|Alveolar Adenocarcinomas|Alveolar Carcinoma|Alveolar Carcinomas|Alveolar Cell Carcinoma|Bronchiolar Carcinoma|Bronchiolar Carcinomas|Bronchiolo-Alveolar Adenocarcinoma|Bronchiolo-Alveolar Adenocarcinomas|Bronchioloalveolar Carcinoma|Bronchiolo-Alveolar Carcinoma|Bronchioloalveolar Carcinomas|Bronchiolo-Alveolar Carcinomas|Carcinoma, Alveolar|Carcinoma, Bronchiolar|Carcinoma, Bronchioloalveolar|Carcinoma, Bronchiolo Alveolar|Carcinoma, Bronchiolo-Alveolar|Carcinomas, Alveolar|Carcinomas, Bronchiolar|Carcinomas, Bronchioloalveolar|Carcinomas, Bronchiolo-Alveolar
D002283||Carcinoma, Bronchogenic|Bronchial Carcinoma|Bronchial Carcinomas|Bronchogenic Carcinoma|Bronchogenic Carcinomas|Carcinoma, Bronchial|Carcinomas, Bronchial|Carcinomas, Bronchogenic
C562664|300600||Aland Island Eye Disease|AIED|Forsius-Eriksson Type Ocular Albinism
C537479||Mixed sclerosing bone dystrophy
C536148||Meier Blumberg Imahorn syndrome|Idiopathic hypercalciuria with bilateral macular colobomata
D014253||Trichostrongylosis|Trichostrongyloses
D014252||Trichostrongyloidiasis|Trichostrongyloidiases
D014257||Trichuriasis|Trichocephaliases|Trichocephaliasis|Trichuriases
202400|C531603||Afibrinogenemia congenital|Afibrinogenemia, Congenital|Congenital afibrinogenaemia|DYSFIBRINOGENEMIA, CONGENITAL, INCLUDED|HYPODYSFIBRINOGENEMIA, CONGENITAL, INCLUDED|Hypofibrinogenemia, Congenital|HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED
C537496||Stoelinga de Koomen Davis syndrome|Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|Non erupted teeth with maxillary hypoplasia and genu valgum
D016890||Encephalitozoonosis|Encephalitozoonoses
D002249||Carbon Monoxide Poisoning|Carbon Monoxide Poisonings|Gas Poisoning, Illuminating|Gas Poisonings, Illuminating|Illuminating Gas Poisoning|Illuminating Gas Poisonings|Monoxide Poisoning, Carbon|Monoxide Poisonings, Carbon|Poisoning, Carbon Monoxide|Poisoning, Illuminating Gas|Poisonings, Carbon Monoxide|Poisonings, Illuminating Gas
C537497||Stoll Alembik Dott syndrome|Ventricular extrasystoles with syncope, perodactyly, and robin sequence
C536166||Keshan disease
C537498||Stoll Levy Francfort syndrome|Facioauriculoradial dysplasia|Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
C563745||B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations|BILU Syndrome
C537491||Stewart Treves syndrome|Angiosarcoma associated with chronic lymphedema|Lymphangiosarcoma following mastectomy|Postmastectomy extremity angiosarcoma
306900|D002836||Hemophilia B|B, Hemophilia|Bs, Hemophilia|Christmas Disease|Deficiencies, F9|Deficiencies, Factor IX|Deficiency, F9|Deficiency, Factor IX|Disease, Christmas|F9 Deficiencies|F9 Deficiency|Factor IX Deficiencies|Factor IX Deficiency|Haemophilia B|Haemophilia Bs|HEMB|Hemophilia B Leyden|HEMOPHILIA B LEYDEN, INCLUDED|Hemophilia B(M)|Hemophilia Bs|Hemophilia Bs (M)|Plasma Thromboplastin Component Deficiency|PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY HEMOPHILIA B(M), INCLUDED
C562417||Adactylia, Unilateral|Terminal Transverse Defects of Hand, Unilateral
C537490||Lyngstadaas syndrome|Steroid dehydrogenase deficiency dental anomalies
D029503|105650||Anemia, Diamond-Blackfan|AASE-SMITH SYNDROME II|AASE SYNDROME|Anemia, Blackfan Diamond|ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC|Anemia, Congenital Hypoplastic, Of Blackfan And Diamond|Anemia, Diamond Blackfan|Anemia, Diamond Blackfan Type|Anemia, Diamond-Blackfan Type|Anemia, Hypoplastic Congenital|Anemias, Hypoplastic Congenital|AREGENERATIVE ANEMIA, CHRONIC CONGENITAL|BDS|Blackfan Diamond Anemia|Blackfan Diamond Disease|Blackfan-Diamond Disease|Blackfan Diamond Syndrome|Blackfan-Diamond Syndrome|Chronic Congenital Agenerative Anemia|Congenital Anemia, Hypoplastic|Congenital Anemias, Hypoplastic|Congenital Erythroid Hypoplastic Anemia|Congenital Hypoplastic Anemia of Blackfan and Diamond|Congenital Pure Red Cell Anemia|Congenital Pure Red Cell Aplasia|DBA|DBA1|Diamond Anemia, Blackfan|Diamond Blackfan Anemia|Diamond-Blackfan Anemia|DIAMOND-BLACKFAN ANEMIA 1|Diamond-Blackfan Type Anemia|Disease, Blackfan-Diamond|Erythroblastopenia, Inherited|Erythroblastopenias, Inherited|Erythrogenesis Imperfecta|Erythrogenesis Imperfectas|Hypoplastic Congenital Anemia|Hypoplastic Congenital Anemias|Imperfecta, Erythrogenesis|Imperfectas, Erythrogenesis|Inherited Erythroblastopenia|Inherited Erythroblastopenias|Pure Hereditary Red Cell Aplasia|Red Cell Aplasia, Pure, Hereditary
D016888||Angiodysplasia|Angiodysplasias
D016881||Microsporidiosis|Infection, Microspora|Infections, Microspora|Microspora Infection|Microspora Infections|Microsporidioses
C562880|130900||Amelogenesis Imperfecta, Type III|ADHCAI|AI3|Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant|Amelogenesis Imperfecta, Hypomineralization Type
D016883||Diabetic Ketoacidosis|Acidoses, Diabetic|Acidosis, Diabetic|Diabetic Acidoses|Diabetic Acidosis|Diabetic Ketoacidoses|Diabetic Ketoses|Diabetic Ketosis|Ketoacidoses, Diabetic|Ketoacidosis, Diabetic|Ketoses, Diabetic|Ketosis, Diabetic
D016884||Polyendocrinopathies, Autoimmune|AIRE Deficiencies|AIRE Deficiency|APECED|APS Type 1|Autoimmune Polyendocrine Syndrome, Type 2|Autoimmune Polyendocrine Syndrome, Type II|Autoimmune Polyendocrinopathy|Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy|Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy|Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy|Autoimmune Polyendocrinopathy Syndrome Type 1|Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy|Autoimmune Polyglandular Syndrome, Type 1|Autoimmune Polyglandular Syndrome, Type 3|Autoimmune Polyglandular Syndrome Type I|Autoimmune Polyglandular Syndrome, Type I|Autoimmune Polyglandular Syndrome Type II|Autoimmune Polyglandular Syndrome Type III|Autoimmune Syndrome Type III, Polyglandular|Autoimmune Syndrome Type II, Polyglandular|Autoimmune Syndrome Type I, Polyglandular|Deficiency, AIRE|Diabetes Mellitus, Addison Disease, Myxedema|Diabetes Mellitus, Addison&apos;s Disease, Myxedema|Multiple Endocrine Deficiency Syndrome, Type 2|Polyendocrine Autoimmune Syndrome, Type II|Polyendocrinopathy, Autoimmune|Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune|Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune|Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune|Polyglandular Autoimmune Syndrome, Type 1|Polyglandular Autoimmune Syndrome, Type 2|Polyglandular Autoimmune Syndrome, Type 3|Polyglandular Autoimmune Syndrome, Type I|Polyglandular Deficiency Syndrome, Type 2|Polyglandular Type I Autoimmune Syndrome|Polyglandular Type II Autoimmune Syndrome|Polyglandular Type III Autoimmune Syndrome|Schmidt&apos;s Syndrome|Schmidt Syndrome|Syndrome, Schmidt|Syndrome, Schmidt&apos;s
C563469|600624||Cone-Rod Dystrophy 1|CORD1|CRD1
C563030|140700||Heinz Body Anemias
C536179||Feingold Trainer syndrome|Unusual facies, cleft palate, short stature, and mental retardation
C562423||Deafness, Progressive High-Tone Neural
C536177||Dincsoy Salih Patel syndrome|Dincsoy syndrome|Midline malformations, multiple, with limb abnormalities and hypopituitarism
C536178||Feigenbaum Bergeron Richardson syndrome
D003586||Cytomegalovirus Infections|Cytomegalic Inclusion Disease|Cytomegalic Inclusion Diseases|Cytomegalovirus Infection|Disease, Cytomegalic Inclusion|Diseases, Cytomegalic Inclusion|Inclusion Disease|Inclusion Disease, Cytomegalic|Inclusion Diseases|Inclusion Diseases, Cytomegalic|Infection, Cytomegalovirus|Infections, Cytomegalovirus|Salivary Gland Virus Disease
C563756||Stuttering, Familial Persistent 2
C562424||Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified|Ehlers-Danlos Syndrome, Friedman-Harrod Type
D002252||Carbon Tetrachloride Poisoning|Carbon Tetrachloride Poisonings|CCl4 Poisoning|CCl4 Poisonings|Poisoning, Carbon Tetrachloride|Poisoning, CCl4|Poisonings, Carbon Tetrachloride
C536172||Dieterich&apos;s disease|Avascular necrosis of the metacarpal head|Dieterich disease
314250|C564048||Dystonia 3, Torsion, X-Linked|Dystonia-Parkinsonism, X-Linked|DYT3|Lubag|Lubag Syndrome|Torsion Dystonia-Parkinsonism, Filipino Type|XDP|X-Linked Dystonia-Parkinsonism|X-Linked Dystonia-Parkinsonism Syndrome|X-Linked Torsion Dystonia-Parkinsonism Syndrome
D016893||Carotid Stenosis|Artery Narrowing, Carotid|Artery Narrowings, Carotid|Artery Plaque, Carotid|Artery Plaques, Carotid|Artery Stenoses, Carotid|Artery Stenosis, Carotid|Carotid Artery Narrowing|Carotid Artery Narrowings|Carotid Artery Plaque|Carotid Artery Plaques|Carotid Artery Stenoses|Carotid Artery Stenosis|Carotid Artery Ulcerating Plaque|Carotid Stenoses|Carotid Ulcer|Carotid Ulcers|Common Carotid Artery Stenosis|External Carotid Artery Stenosis|Internal Carotid Artery Stenosis|Narrowing, Carotid Artery|Narrowings, Carotid Artery|Plaque, Carotid Artery|Plaques, Carotid Artery|Plaque, Ulcerating, Carotid Artery|Stenoses, Carotid|Stenoses, Carotid Artery|Stenosis, Carotid|Stenosis, Carotid Artery|Stenosis, Common Carotid Artery|Stenosis, External Carotid Artery|Ulcerating Plaque, Carotid Artery|Ulcer, Carotid|Ulcers, Carotid
D014235||Trichinellosis|Human Trichinelloses|Human Trichinellosis|Trichinelliases|Trichinelliasis|Trichinelloses|Trichinelloses, Human|Trichinellosis, Human|Trichinoses|Trichinosis
D001019||Aortic Rupture|Aneurysm, Ruptured Aortic|Aneurysms, Ruptured Aortic|Aortic Aneurysm, Ruptured|Aortic Aneurysms, Ruptured|Aortic Ruptures|Rupture, Aortic|Ruptured Aortic Aneurysm|Ruptured Aortic Aneurysms|Ruptures, Aortic
D001018||Aortic Diseases|Aortic Disease|Disease, Aortic|Diseases, Aortic
C537551||Microcornea corectopia macular hypoplasia
C536220||Curly hair-acral keratoderma-caries syndrome
D001017||Aortic Coarctation|Aorta Coarctation|Aorta Coarctations|Aorta Dominant Coarctation|Aorta Dominant Coarctations|Aortic Coarctations|Coarctation, Aortic|Coarctation of Aorta|Coarctation of Aorta Dominant|Coarctation of the Aorta|Coarctations, Aortic
C537554||Microgastria limb reduction defect|Congenital microgastria and limb reduction defects|Microgastria-limb reduction defects association
C536224||Cutaneous photosensitivity and colitis, lethal|Early cutaneous photosensitivity and severe colitis
C563840||Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly|Stomatin-Deficient Cryohydrocytosis with Neurologic Defects
C537552||Microcornea, glaucoma, and absent frontal sinuses|Hereditary microcornea, glaucoma, and absent frontal sinuses
C537553||Microdontia hypodontia short stature
C537315|301790||Spinocerebellar ataxia, X-linked, 3|Ataxia-deafness syndrome X-linked|Ataxia-deafness syndrome, X-linked|SCAX3|Schmidley syndrome|Spinocerebellar Ataxia, X-Linked 3
D001010||Anxiety, Separation|Anxiety Disorder, Separation|Separation Anxiety|Separation Anxiety Disorder
C563844||Muscular Dystrophy, Congenital, Type 1D
D002345||Carotid Body Tumor|Carotid Body Paraganglioma|Carotid Body Paragangliomas|Carotid Body Tumors|Paraganglioma, Carotid Body|Paragangliomas, Carotid Body|Tumor, Carotid Body|Tumors, Carotid Body
D003677||Deficiency Diseases|Deficiency Disease|Disease, Deficiency|Diseases, Deficiency
D001015||Aortic Arch Syndromes|Aortic Arch Syndrome|Syndrome, Aortic Arch|Syndromes, Aortic Arch
C563849||Alpha-B Crystallinopathy with Cataract|Desmin-Related Myopathy with Cataract
D001014||Aortic Aneurysm|Aneurysm, Aortic|Aneurysms, Aortic|Aortic Aneurysms
D002340||Carotid Artery Diseases|Arterial Disease, Carotid|Arterial Diseases, Carotid|Arterial Diseases, Common Carotid|Arterial Diseases, External Carotid|Arterial Diseases, Internal Carotid|Artery Disease, Carotid|Artery Diseases, Carotid|Artery Disorder, Carotid|Artery Disorders, Carotid|Atherosclerotic Disease, Carotid|Atherosclerotic Diseases, Carotid|Carotid Arterial Disease|Carotid Arterial Diseases|Carotid Artery Disease|Carotid Artery Disorder|Carotid Artery Disorders|Carotid Atheroscleroses|Carotid Atherosclerosis|Carotid Atherosclerotic Disease|Carotid Atherosclerotic Diseases|Common Carotid Artery Diseases|Disorders, Carotid Artery|External Carotid Artery Diseases|Internal Carotid Artery Diseases
C565301|605728||Cataract, Central Saccular, With Sutural Opacities|CATARACT 25|Cataract, Central Pouch-Like, With Sutural Opacities|CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES|CCSSO|CTRCT25
C563747|609286||Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3|PEOA3|Progressive External Ophthalmoplegia, Autosomal Dominant, 3
612635||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7|MVCD7|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO|NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
D002341||Carotid Artery Thrombosis|Carotid Artery Thromboses|Carotid Thrombosis|Common Carotid Artery Thrombosis|External Carotid Artery Thrombosis|Internal Carotid Artery Thrombosis|Thrombosis, Carotid|Thrombosis, Carotid Artery|Thrombosis, Common Carotid Artery|Thrombosis, External Carotid Artery|Thrombosis, Internal Carotid Artery
612634||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6|MVCD6|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO
D014328||Trophoblastic Neoplasms|Cancers, Trophoblast|Cancers, Trophoblastic|Cancer, Trophoblast|Cancer, Trophoblastic|Neoplasms, Trophoblast|Neoplasms, Trophoblastic|Neoplasm, Trophoblast|Neoplasm, Trophoblastic|Trophoblast Cancer|Trophoblast Cancers|Trophoblastic Cancer|Trophoblastic Cancers|Trophoblastic Neoplasm|Trophoblastic Tumor|Trophoblastic Tumors|Trophoblast Neoplasm|Trophoblast Neoplasms|Trophoblast Tumor|Trophoblast Tumors|Tumors, Trophoblast|Tumors, Trophoblastic|Tumor, Trophoblast|Tumor, Trophoblastic
D003327|300464||Coronary Disease|CHDS1|CHDS2|CHDS3|CHDS4|CHDS5|CHDS7|CHDS8|CHDS9|CORONARY ARTERY DISEASE, EARLY-ONSET|Coronary Diseases|Coronary Heart Disease|Coronary Heart Diseases|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9|Disease, Coronary|Disease, Coronary Heart|Diseases, Coronary|Diseases, Coronary Heart|Heart Disease, Coronary|Heart Diseases, Coronary
C537060|228960||Flaujeac factor deficiency|Fitzgerald Trait|FITZGERALD TRAIT KININOGEN DEFICIENCY, TOTAL, INCLUDED|FLAUJEAC TRAIT, INCLUDED|High molecular weight kininogen deficiency|HMWK Deficiency|Kininogen Deficiency, High Molecular Weight|KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT, INCLUDED|Kininogen Deficiency, Total|WILLIAMS TRAIT, INCLUDED
D003680||Deglutition Disorders|Deglutition Disorder|Disorders, Deglutition|Dysphagia|Dysphagia, Esophageal|Dysphagia, Oropharyngeal|Esophageal Dysphagia|Oropharyngeal Dysphagia|Swallowing Disorder|Swallowing Disorders
613969||MYOPIA 19, AUTOSOMAL DOMINANT|MYP19
C566136|118300||Charcot-Marie-Tooth Disease, Demyelinating, Type 1e|CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS|CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E|Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant|Cmt1e
C538258|301040||ATR-X syndrome|Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE|Alpha thalassemia mental retardation syndrome, non deletion type, X-linked|Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED|Alpha Thalassemia-Mental Retardation, X-Linked|Alpha Thalassemia X-Linked Intellectual Disability Syndrome|Alpha-thalassemia X-linked mental retardation syndrome|Alpha Thalassemia X-Linked Mental Retardation Syndrome|ATR non deletion type|ATR, Nondeletion Type|ATRX|ATRX Syndrome|ATR-X SYNDROME|X-linked alpha thalassemia mental retardation syndrome|X-Linked Alpha-Thalassemia Mental Retardation Syndrome|XLMR-Hypotonic Face Syndrome
C537547||Microcephaly, corpus callosum dysgenesis and cleft lip-palate|Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip-Palate|Microcephaly, facial clefting, and preaxial polydactyly
C536216||Crome syndrome
C537548||Galloway Mowat syndrome|Galloway-Mowat Syndrome|Galloway syndrome|Microcephaly, hiatal hernia and nephrotic syndrome|Microcephaly, Hiatus Hernia, And Nephrotic Syndrome|Microcephaly nephrosis syndrome|Nephrosis-Microcephaly Syndrome|Nephrosis neuronal dysmigration syndrome|Nephrosis-Neuronal Dysmigration Syndrome
C536217||Crumpled helices and small mouth|Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay
D015651||Mycotoxicosis|Fungus Poisoning|Fungus Poisonings|Mycotoxicoses|Poisoning, Fungus|Poisonings, Fungus
C537545||Microcephaly sparse hair mental retardation seizures
C537546||Microcephaly with spastic quadriplegia|Recessive microcephaly with spastic quadriplegia
C536215||Pediatric Crohn&apos;s disease|Crohn&apos;s disease, pediatric|Pediatric onset Crohn&apos;s disease
C537549||Lambotte syndrome|Microcephaly, holoprosencephaly, and intrauterine growth retardation
C536218||Cryofibrinogenemia
D014323||Trombiculiasis|Trombiculiases
C536219||Cryptomicrotia brachydactyly syndrome|Cryptomicrotia-Brachydactyly Syndrome|Cryptomicrotia brachydactyly syndrome excess fingertip arch|Tonoki Ohura Niikawa syndrome
C537561||Jaffer Beighton syndrome|Arachnodactyly, joint laxity, and spondylolisthesis
C536230||Cystic medial necrosis of aorta|Erdheim Cystic medial necrosis of aorta
C537562||Jamaican vomiting sickness|Ackee poisoning
D001028||Aortopulmonary Septal Defect|Aorticopulmonary Septal Defect|Aorticopulmonary Septal Defects|Aortopulmonary Septal Defects|Septal Defect, Aorticopulmonary|Septal Defect, Aortopulmonary|Septal Defects, Aorticopulmonary|Septal Defects, Aortopulmonary
C537565||Jarcho-Levin syndrome|Costovertebral dysplasia|Spondylocostal dysostosis|Spondylocostal Dysostosis 1, Autosomal Recessive|Spondylocostal dysplasia, recessive form|Spondylothoracic Dysostosis|Spondylothoracic Dysplasia
608367|D009216||Myopia|MYOPIA 17, AUTOSOMAL DOMINANT|MYOPIA 4, FORMERLY|Myopias|MYP17|MYP4, FORMERLY|Nearsightedness|Nearsightednesses
C536234||Blepharophimosis syndrome type 2|Blepharophimosis, ptosis, and epicanthus inversus type 2|Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
C563852||Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema
C536235||Blepharophimosis with ptosis, syndactyly, and short stature
C537563||Jankovic Rivera syndrome|Hereditary myoclonus and progressive distal muscular atrophy|Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy
C536232||Blepharophimosis syndrome Ohdo type|Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth|Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth|Ohdo Blepharophimosis syndrome|Ohdo Madokoro Sonoda syndrome
C536233||Blepharophimosis syndrome type 1|Blepharophimosis, ptosis, epicanthus inversus type 1|Blepharophimosis, ptosis, epicanthus inversus with ovarian failure
D001022||Aortic Valve Insufficiency|Aortic Incompetence|Aortic Regurgitation|Aortic Valve Incompetence|Incompetence, Aortic|Incompetence, Aortic Valve|Insufficiency, Aortic Valve|Regurgitation, Aortic|Regurgitation, Aortic Valve
D001020||Aortic Stenosis, Subvalvular|Aortic Stenoses, Subvalvular|Aortic Subvalvular Stenoses|Aortic Subvalvular Stenosis|Stenoses, Aortic Subvalvular|Stenoses, Subvalvular Aortic|Stenosis, Aortic Subvalvular|Stenosis, Subvalvular Aortic|Subvalvular Aortic Stenoses|Subvalvular Aortic Stenosis|Subvalvular Stenoses, Aortic|Subvalvular Stenosis, Aortic
612628||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4|MVCD4|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO
C562524||Fibrochondrogenesis
D002357||Cartilage Diseases|Cartilage Disease|Chondromalacia|Chondromalacias
D003681||Dehydration|Stress, Water|Water Stress
D001025||Aortitis|Aortitides
D001024||Aortic Valve Stenosis|Aortic Stenosis|Aortic Valve Stenoses|Stenoses, Aortic|Stenoses, Aortic Valve|Stenosis, Aortic|Stenosis, Aortic Valve|Valve Stenoses, Aortic|Valve Stenosis, Aortic
612624||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3|END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO|MVCD3|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO
184500|D062685||Steatocystoma Multiplex|Cyst, Multiple Sebaceous|Cysts, Multiple Sebaceous|Multiple Sebaceous Cyst|Multiple Sebaceous Cysts|Multiplex Steatocystoma|Multiplex Steatocystomas|Sebaceous Cyst, Multiple|Sebaceous Cysts, Multiple|Steatocystoma, Multiplex|Steatocystoma Multiplices|Steatocystomas, Multiplex
D001023||Aortic Valve Prolapse|Aortic Valve Prolapses|Prolapse, Aortic Valve|Prolapses, Aortic Valve|Valve Prolapse, Aortic|Valve Prolapses, Aortic
612623||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2|END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO|MVCD2|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
612633||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5|MVCD5|RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
611302||SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE|SPAX2
D014339||Truncus Arteriosus, Persistent|Persistent Truncus Arteriosus
C536011|200400||Achalasia, familial esophageal|Familial esophageal achalasia
C537558||Osteogenesis imperfecta congenita, microcephaly, and cataracts
D015663||Osteoporosis, Postmenopausal|Bone Losses, Perimenopausal|Bone Losses, Postmenopausal|Bone Loss, Perimenopausal|Bone Loss, Postmenopausal|Osteoporoses, Postmenopausal|Osteoporoses, Post-Menopausal|Osteoporosis, Post Menopausal|Osteoporosis, Post-Menopausal|Perimenopausal Bone Loss|Perimenopausal Bone Losses|Postmenopausal Bone Loss|Postmenopausal Bone Losses|Postmenopausal Osteoporoses|Post-Menopausal Osteoporoses|Postmenopausal Osteoporosis|Post-Menopausal Osteoporosis
D013001||Somatoform Disorders|Briquet Syndrome|Pain Disorder|Somatization Disorder|Somatization Disorders|Somatoform Disorder|Syndrome, Briquet
C536228||Familial cyclic vomiting syndrome|Cyclical Vomiting|Cyclical Vomiting Syndrome|Cyclic vomiting syndrome|Periodic Vomiting
C537556||Micromelic dwarfism Fryns type|Dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|Spondyloepimetaphyseal dysplasia, micromelic
C536225||Cutis laxa, recessive|Cutis laxa, type 1
C537557||Micromelic dysplasia, congenital, with dislocation of radius|Micromelic dysplasia dislocation of radius
C536226||Cutis marmorata telangiectatica congenita|Hereditary cutis marmorata telangiectatica congenita
600652||DEAFNESS, AUTOSOMAL DOMINANT 4A|DEAFNESS, AUTOSOMAL DOMINANT 4|DFNA4|DFNA4A
D013005||Somatostatinoma|Somatostatinomas
D053821||Cardiovascular Infections|Cardiovascular Infection|Infection, Cardiovascular|Infections, Cardiovascular
C536229||Cyprus facial neuromusculoskeletal syndrome
C537572||Jeune syndrome situs inversus
C536241||Bobble-head doll syndrome|Bobble head doll syndrome
C537573||Methylmalonyl-Coenzyme A mutase deficiency
C536242||Brachymorphism-onychodysplasia-dysphalangism syndrome
D053836||DNA Degradation, Necrotic|Necrotic DNA Degradation
C536240||Blue rubber bleb nevus syndrome|Bean syndrome|Blue rubber bleb nevus
C537576||Michels Caskey syndrome|Mullerian aplasia with hypoplastic thumbs
C536245||Nondystrophic myotonia
C536246||Noninsulin-dependent diabetes mellitus with deafness|Ballinger-Wallace Syndrome|Diabetes and deafness, maternally inherited|Diabetes-deafness syndrome, maternally transmitted|Diabetes mellitus, type 2, with deafness|Diabetes Mellitus, Type Ii, With Deafness|Maternally inherited diabetes and deafness|Maternally Transmitted Diabetes-Deafness Syndrome|Mitochondrial Inherited Diabetes and Deafness|NIDDM with deafness
D050197|108725||Atherosclerosis|ALP|Atherogenesis|ATHEROGENIC LIPOPROTEIN PHENOTYPE|Atheroscleroses|ATHEROSCLEROSIS SUSCEPTIBILITY|ATHS
C537574||Meyenburg-Altherr-Uehlinger syndrome|Ashkenazi syndrome|Atrophic polychondritis, cartilagenous arthritic deafness syndrome|Jaksch&apos; syndrome|Jaksch Wartenhorst&apos;s syndrome|Von Jaksch Wartenhorst&apos;s syndrome
C536243||Non-lissencephalic cortical dysplasia
C537575||Michelin tire baby syndrome|Kunze Riehm syndrome|Skin creases, multiple benign ring-shaped, of limbs
C563822||Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive|SCID, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
C563821||Meacham Syndrome
D003655||Decerebrate State|Decerebrate Posturing|Decerebrate Posturings|Decerebrate Rigidity|Decerebrate States|Decorticate Rigidities|Decorticate Rigidity|Decorticate State|Decorticate States|Posturing, Decerebrate|Posturings, Decerebrate|Rigidities, Decorticate|Rigidity, Decerebrate|Rigidity, Decorticate|State, Decerebrate|States, Decerebrate
C563825||Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy|SMDCRD
C563829||Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
C537407|609220||Bruck syndrome 2|BRKS2|Bruck syndrome, 2|OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
184700|D011085||Polycystic Ovary Syndrome|HYPERANDROGENEMIA|Ovarian Degeneration, Sclerocystic|Ovarian Syndrome, Polycystic|Ovary, Sclerocystic|Ovary Syndrome, Polycystic|PCO|PCO1|PCOS|PCOS1|Polycystic Ovarian Syndrome|Polycystic Ovary Syndrome 1|Sclerocystic Ovarian Degeneration|Sclerocystic Ovaries|Sclerocystic Ovary|Sclerocystic Ovary Syndrome|Stein Leventhal Syndrome|Stein-Leventhal Syndrome|Syndrome, Polycystic Ovary|Syndrome, Stein-Leventhal
C537569||Jequier Kozlowski skeletal dysplasia|Cloverleaf skull and bone dysplasias|Facies unusual arthrogryposis advanced skeletal maturation|Round face, short small nose, advanced bone age, enlarged diaphysis
C536239||Blue diaper syndrome|Hypercalcemia, familial, with nephrocalcinosis and indicanuria
C537567||Jejunal atresia with renal adysplasia
C536236||Blepharoptosis myopia ectopia lentis|Blepharoptosis, Myopia, and Ectopia Lentis|Dominantly inherited blepharoptosis, high myopia, and ectopia lentis
C536237||Blount disease|Osteochondrosis Deformans Tibiae|Osteochondrosis deformans tibiae, familial infantile type|Tibia vara
C536252||Pyle disease|Edwin Pyle disease|Metaphyseal dysplasia|Metaphyseal dysplasia with little involvement of the cranial bones
C537584||Seow Najjar syndrome|Enamel hypoplasia, capsular cataracts, and ductal stenosis
D001006||Anus, Imperforate|Anal Atresia|Anal Atresias|Atresia, Anal|Atresias, Anal|Imperforate Anus
D052516||Sulfatidosis|Sulfatidoses
D001005||Anus Neoplasms|Anal Cancer|Anal Cancers|Anal Neoplasm|Anal Neoplasms|Anus Cancer|Anus Cancers|Anus Neoplasm|Cancer, Anal|Cancer of Anus|Cancer of the Anus|Cancers, Anal|Neoplasm, Anal|Neoplasm, Anus|Neoplasms, Anal|Neoplasms, Anus
C537582||Sennetsu Fever|Human Ehrlichial infection, Sennetsu type
C536251||Pyknoachondrogenesis
C563831||Myasthenic Syndrome, Congenital, Ie
C563830||Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism
D003668||Pressure Ulcer|Bedsore|Bed Sore|Bedsores|Bed Sores|Decubitus Ulcer|Decubitus Ulcers|Pressure Sore|Pressure Sores|Pressure Ulcers|Sore, Bed|Sore, Pressure|Sores, Bed|Sores, Pressure|Ulcer, Decubitus|Ulcer, Pressure|Ulcers, Decubitus|Ulcers, Pressure
C537588||Androblastoma of ovary|Sertoli-leydig cell tumor of the ovary
C537585||Seres-Santamaria Arimany Muniz syndrome|Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects
C537586||Serpentine fibula polycystic kidney syndrome|Serpentine Fibula-Polycystic Kidney Syndrome|Serpentine fibula syndrome
C536255||Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|Leigh syndrome due to pyruvate carboxylase deficiency
C562503||Otocephaly
C536781|601705||T-cell immunodeficiency, congenital alopecia and nail dystrophy|Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
D003665||Decompression Sickness|Bends|Caisson Disease|Caisson Diseases|Disease, Caisson|Diseases, Caisson|Sickness, Decompression
D001004||Anus Diseases|Anus Disease|Disease, Anus|Diseases, Anus
D001002||Anuria|Anurias
C536249||Purpura simplex|Hereditary familial purpura simplex
605067|D018785||Tricuspid Atresia|Absent Right Atrioventricular Connection|Atresias, Tricuspid|Atresias, Tricuspid Valve|Atresia, Tricuspid|Atresia, Tricuspid Valve|Tricuspid Atresias|Tricuspid Valve Atresia|Tricuspid Valve Atresias|Valve Atresias, Tricuspid|Valve Atresia, Tricuspid
C536247||Nonkeratan-sulfate-excreting Morquio syndrome|Morquio Syndrome C|Morquio syndrome, nonkeratan-sulfate-excreting type|Morquio Syndrome, Nonkeratosulfate-Excreting Type
C537579||Sener syndrome|Frontonasal dysplasia and dilated virchow-robin spaces
D014314||Trisomy|Chromosomal Triplication|Chromosomal Triplications|Partial Trisomies|Partial Trisomy|Trisomies|Trisomies, Partial|Trisomy, Partial
600630||UV-SENSITIVE SYNDROME 1|UVSS1
D014313||Trismus|Lockjaw|Lock Jaw|Masseter Muscle Spasm|Masseter Muscle Spasms|Masseter Spasm|Masseter Spasms|Muscle Spasm, Masseter|Muscle Spasms, Masseter|Spasm, Masseter|Spasm, Masseter Muscle|Spasms, Masseter|Spasms, Masseter Muscle
D053842||Microsatellite Instability|Error Phenotype, Replication|Error Phenotypes, Replication|Instability, Microsatellite|Phenotype, Replication Error|Phenotypes, Replication Error|Replication Error Phenotype|Replication Error Phenotypes
D003638||Deafness|Acquired Deafness|Bilateral Deafness|Complete Hearing Loss|Deaf Mutism|Deaf-Mutism|Deafness, Acquired|Deafness, Bilateral|Deafness, Prelingual|Extreme Hearing Loss|Hearing Loss, Complete|Hearing Loss, Extreme|Prelingual Deafness
D003639||Hearing Loss, Sudden|Deafness, Sudden|Sudden Deafness|Sudden Hearing Loss
C537510||Kozlowski Tsuruta Taki syndrome|Achondrogenesis-Kozlowski type|Chondrodysplasia, lethal neonatal
D002303||Cardiac Output, Low|Low Cardiac Output|Low Cardiac Output Syndrome|Output, Low Cardiac
C566079||Cd4+ Lymphocyte Deficiency
C537511||Piussan Lenaerts Mathieu syndrome|Thumb ankylosis with mental retardation
D002305||Cardiac Tamponade|Cardiac Tamponades|Pericardial Tamponade|Pericardial Tamponades|Tamponade, Cardiac|Tamponade, Pericardial|Tamponades, Cardiac|Tamponades, Pericardial
C563806||Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa
D027601||Polyomavirus Infections|Polyomavirus Infection
C563805||Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities
613930||ALOPECIA-MENTAL RETARDATION SYNDROME 3|APMR3
C563803||Spondylometaphyseal Dysplasia, Type A4
C579395||Ruvalcaba Syndrome
D015616||Histiocytosis, Non-Langerhans-Cell|Disseminatum, Xanthoma|Histiocytosis, Non Langerhans Cell|Non-Langerhans-Cell Histiocytosis|Reticulohistiocytoma|Reticulohistiocytomas|Xanthoma Disseminatum
D015615||Cystic Adenomatoid Malformation of Lung, Congenital|Congenital Cystic Adenomatoid Malformation|Congenital Cystic Adenomatoid Malformation of Lung|Congenital Cystic Adenomatoid Malformation, Type 1|Congenital Cystic Adenomatoid Malformation, Type 2|Congenital Cystic Adenomatoid Malformation, Type 3|Congenital Cystic Adenomatoid Malformation, Type I|Congenital Cystic Adenomatoid Malformation, Type II|Congenital Cystic Adenomatoid Malformation, Type III|Cystic Adenomatoid Malformation of Lung|Lung Malformation, Congenital Cystic Adenomatoid|Lung Malformation, Cystic Adenomatoid, Congenital
C537509||Kozlowski Rafinski Klicharska syndrome|Metaphyseal and epiphyseal dysplasia with unusual facies and cataract
C566080||T-Cell OKT4 Deficiency
D015614||Histiocytosis|Histiocytoses
D015619||Respiratory System Abnormalities|Abnormalities, Respiratory System|Abnormality, Respiratory System|Respiratory System Abnormality|System Abnormalities, Respiratory|System Abnormality, Respiratory
D015618||Histiocytosis, Sinus|Destombes Rosai Dorfman Syndrome|Destombes-Rosai-Dorfman Syndrome|Disease, Rosai-Dorfman|Histiocytoses, Sinus|Rosai Dorfman Disease|Rosai-Dorfman Disease|Sinus Histiocytoses|Sinus Histiocytosis|Sinus Histiocytosis with Massive Lymphadenopathy|Syndrome, Destombes-Rosai-Dorfman
C537503||Subcutaneous panniculitis-like T-cell lymphoma
C537504||Kousseff Nichols syndrome|Noonan like contracture myopathy hyperpyrexia
C566087||Synovial Chondromatosis, Familial, with Dwarfism
C566089||Synostosis of Talus and Calcaneus with Short Stature
C566082||Immunodeficiency due to Defect in CD3-Epsilon
C537508||Kozlowski Ouvrier syndrome|Agenesis of the corpus callosum with mental retardation and osseous lesions
C566083||Immunodeficiency due to Defect in CD3-Gamma
C566084||Syringomyelia, Isolated
C537506||Kozlowski Brown Hardwick syndrome
C566085||Syringomas, Multiple
D003649||Decalcification, Pathologic|Decalcification, Pathological|Pathological Decalcification|Pathologic Decalcification
D002318||Cardiovascular Diseases|Cardiovascular Disease|Disease, Cardiovascular|Diseases, Cardiovascular
D003645||Death, Sudden|Sudden Death
C563813||Peripheral Cone Dystrophy
D002310||Cardiomyopathy, Alcoholic|Alcoholic Cardiomyopathy
D003643||Death|Cardiac Death|Death, Cardiac|Determination of Death|Near-Death Experience
D002312||Cardiomyopathy, Hypertrophic|Asymmetric Septal Hypertrophies|Asymmetric Septal Hypertrophy|Cardiomyopathies, Hypertrophic|Cardiomyopathies, Hypertrophic Obstructive|Cardiomyopathies, Hypertrophic Obstructive (HOCM)|Cardiomyopathies, Idiopathic Hypertrophic|Cardiomyopathy, Hypertrophic Obstructive|Cardiomyopathy, Hypertrophic Obstructive (HOCM)|Cardiomyopathy, Idiopathic Hypertrophic|Hypertrophic Cardiomyopathies|Hypertrophic Cardiomyopathies, Idiopathic|Hypertrophic Cardiomyopathy|Hypertrophic Cardiomyopathy, Idiopathic|Hypertrophic Obstructive Cardiomyopathies|Hypertrophic Obstructive Cardiomyopathies (HOCM)|Hypertrophic Obstructive Cardiomyopathy|Hypertrophic Obstructive Cardiomyopathy (HOCM)|Hypertrophies, Asymmetric Septal|Hypertrophy, Asymmetric Septal|Idiopathic Hypertrophic Cardiomyopathies|Idiopathic Hypertrophic Cardiomyopathy|Idiopathic Hypertrophic Subaortic Stenosis|Idiopathic Hypertrophic Subaortic Stenosis (IHSS)|Idiopathic Hypertrophic Subvalvular Stenosis|IHSS|IHSSs|Obstructive Cardiomyopathies, Hypertrophic|Obstructive Cardiomyopathy, Hypertrophic|Septal Hypertrophies, Asymmetric|Septal Hypertrophy, Asymmetric|Subvalvular Stenosis, Idiopathic Hypertrophic
C563810||Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
D002313||Cardiomyopathy, Restrictive|Cardiomyopathies, Restrictive|Familial Restrictive Cardiomyopathy|Restrictive Cardiomyopathies|Restrictive Cardiomyopathy
D041881||Cholecystitis, Acute|Acute Cholecystitis
203700||MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)|ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS|ALPERS-HUTTENLOCHER SYNDROME|ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY|ALPERS SYNDROME|MTDPS4A|NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE|PNDC
D041882||Emphysematous Cholecystitis|Cholecystitis, Emphysematous
314050|C564050||Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis|THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS|Thrombocytopenia with Beta-Thalassemia, X-Linked|XLTT
C563815||Deafness, Autosomal Recessive 36|DFNB36
C563814||Marfanoid Habitus with Situs Inversus
C567716|613177||Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities|ARCL1C|CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC|CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES|Urban-Rifkin-Davis Syndrome|URDS
C566090||Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly|Brachydactyly with Joint Dysplasia|Liebenberg Syndrome
C563819||Cataract, Congenital, Cerulean Type, 3|Cataract, Congenital Blue Dot Type, 3
C566091||Syndactyly-Polydactyly-Earlobe Syndrome
C563818||Ataxia, Sensory, Autosomal Dominant
D015624||Lambert-Eaton Myasthenic Syndrome|Eaton-Lambert Myasthenic-Myopathic Syndrome|Eaton Lambert Myasthenic Syndrome|Eaton-Lambert Myasthenic Syndrome|Eaton-Lambert Myopathic-Myasthenic Syndrome|Eaton-Lambert Myopathic-Myasthenic Syndromes|Eaton Lambert Syndrome|Eaton-Lambert Syndrome|Lambert-Eaton Myasthenic-Myopathic Syndrome|Lambert-Eaton Myasthenic-Myopathic Syndromes|Lambert Eaton Myasthenic Syndrome|Lambert-Eaton Myopathic-Myasthenic Syndrome|Lambert-Eaton Myopathic-Myasthenic Syndromes|Lambert Eaton Syndrome|Lambert-Eaton Syndrome|Myasthenic Myopathic Syndrome of Eaton Lambert|Myasthenic-Myopathic Syndrome of Eaton-Lambert|Myasthenic Myopathic Syndrome of Lambert Eaton|Myasthenic-Myopathic Syndrome of Lambert-Eaton|Myasthenic Syndrome, Eaton-Lambert|Myasthenic Syndrome, Lambert Eaton|Myasthenic Syndrome, Lambert-Eaton|Myopathic Myasthenic Syndrome of Eaton Lambert|Myopathic-Myasthenic Syndrome of Eaton-Lambert|Myopathic-Myasthenic Syndrome of Lambert-Eaton|Syndrome, Eaton-Lambert|Syndrome, Eaton-Lambert Myasthenic|Syndrome, Lambert-Eaton|Syndrome, Lambert-Eaton Myasthenic
613916||DEAFNESS, AUTOSOMAL RECESSIVE 89|DFNB89
C580387||Ppm-X Syndrome
C580388||Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia|Epm1b|Pme with Ataxia|Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia|Progressive Myoclonic Epilepsy 1b|Progressive Myoclonus Epilepsy with Ataxia
C537514||Plasmacytoma anaplastic|Anaplastic skeletal plasmacytoma (type)|Anaplastic solitary extramedullary plasmacytoma of the cecum (type)|Extramedullary anaplastic plasmacytoma (type)
C566098||Symphalangism with Multiple Anomalies of Hands and Feet
C537512||Plagiocephaly and X-linked mental retardation|Hyde Forster Mccarthy Berry syndrome|Mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|Mental retardation, X-linked Hyde-Forster type|Mental retardation, X-linked, Hyde-Forster type|Mental retardation, X-linked, with craniofacial dysmorphism
C580383||Pontocerebellar Hypoplasia|Congenital Pontocerebellar Hypoplasia
C566099||Symphalangism, Distal
C537518||Podder-Tolmie syndrome|Meningoencephalocele, arthrogryposis and hypoplastic thumbs
C537519||Schwartz-Lelek syndrome|Craniometaphyseal dysplasia|Genetic craniotubular bone dysplasias and hyperostoses
C566095||Synpolydactyly With Foot Anomalies
C566822|168605||Perry Syndrome|Parkinsonism with Alveolar Hypoventilation and Mental Depression
C537517||Plexosarcoma|Gastrointestinal autonomic nerve tumor
D015620||Histiocytic Disorders, Malignant|Disorder, Malignant Histiocytic|Disorders, Malignant Histiocytic|Histiocytic Disorder, Malignant|Malignant Histiocytic Disorder|Malignant Histiocytic Disorders
D020199||Hematoma, Subdural, Acute|Acute Subdural Hematoma|Acute Subdural Hematomas|Hematoma, Acute Subdural|Hematomas, Acute Subdural|Hemorrhage, Subdural, Acute|Subdural Hematoma, Acute|Subdural Hematomas, Acute
D004948||Esotropia|Convergent Strabismus|Cross Eye|Cross-Eye|Cross-Eyes|Esodeviation|Esodeviations|Esophoria|Esophorias|Esotropia, Intermittent|Esotropia, Monocular|Esotropia, Primary|Esotropias|Esotropia, Secondary|Esotropias, Intermittent|Esotropias, Monocular|Esotropias, Primary|Esotropias, Secondary|Intermittent Esotropia|Intermittent Esotropias|Internal Strabismus|Monocular Esotropia|Monocular Esotropias|Primary Esotropia|Primary Esotropias|Secondary Esotropia|Secondary Esotropias|Strabismus, Convergent|Strabismus, Internal
D020198||Intracranial Hemorrhage, Traumatic|Hematomas, Traumatic Intracranial|Hematoma, Traumatic Intracranial|Hemorrhage, Intracranial, Traumatic|Hemorrhages, Traumatic Intracranial|Hemorrhage, Traumatic Intracranial|Intracranial Hematomas, Traumatic|Intracranial Hematoma, Traumatic|Intracranial Hemorrhages, Traumatic|Traumatic Intracranial Hematoma|Traumatic Intracranial Hematomas|Traumatic Intracranial Hemorrhage|Traumatic Intracranial Hemorrhages
247100|D008065||Lipoid Proteinosis of Urbach and Wiethe|Hyalinosis Cutis et Mucosae|Lipoidproteinosis|LIPOID PROTEINOSIS|Lipoid Proteinosis, Urbach-Wiethe|Lipoproteinosis|Urbach Wiethe Disease|Urbach-Wiethe Disease|Urbach Wiethe Lipoid Proteinosis|Urbach-Wiethe Lipoid Proteinosis|Urbach-Wiethe Syndrome
D015658|609423||HIV Infections|ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO, INCLUDED|AIDS, PROGRESSION TO, INCLUDED|HIV-1, RESISTANCE TO, INCLUDED|HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO, INCLUDED|HIV Infection|HTLV-III Infection|HTLV III Infections|HTLV-III Infections|HTLV-III-LAV Infection|HTLV III LAV Infections|HTLV-III-LAV Infections|HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO|Infection, HIV|Infection, HTLV-III|Infection, HTLV-III-LAV|Infections, HIV|Infections, HTLV-III|Infections, HTLV-III-LAV|T Lymphotropic Virus Type III Infections, Human|T-Lymphotropic Virus Type III Infections, Human
D020197||Head Injuries, Penetrating|Brain Injuries, Penetrating|Brain Injury, Penetrating|Cranial Trauma, Penetrating|Cranial Traumas, Penetrating|Craniocerebral Trauma, Penetrating|Craniocerebral Traumas, Penetrating|Head Injuries, Penetrating, Missile|Head Injury, Penetrating|Head Trauma, Penetrating|Head Traumas, Penetrating|Injuries, Penetrating Head|Injury, Penetrating Head|Missile Injuries, Penetrating, Head|Penetrating Brain Injuries|Penetrating Brain Injury|Penetrating Cranial Trauma|Penetrating Cranial Traumas|Penetrating Craniocerebral Trauma|Penetrating Craniocerebral Traumas|Penetrating Head Injuries|Penetrating Head Injury|Penetrating Head Trauma|Penetrating Head Traumas|Penetrating Missile Injuries, Head|Trauma, Penetrating Cranial|Trauma, Penetrating Craniocerebral|Trauma, Penetrating Head|Traumas, Penetrating Cranial|Traumas, Penetrating Craniocerebral|Traumas, Penetrating Head
C567771|613073||Metaphyseal Anadysplasia 2|MANDP2
C564276|608189||Tropical Calcific Pancreatitis|TCP
D020196||Trauma, Nervous System|Craniocervical Injuries|Craniocervical Injury|Injuries, Craniocervical|Injuries, Nervous System|Injury, Craniocervical|Injury, Nervous System|Nervous System Injuries|Nervous System Injury|Nervous System Trauma|Nervous System Traumas
D020195||Epilepsy, Reflex|Audiogenic Epilepsies|Audiogenic Epilepsy|Audiogenic Reflex Epilepsies|Audiogenic Reflex Epilepsy|Cursive Epilepsy|Cursive Reflex Epilepsies (Running)|Cursive Reflex Epilepsy (Running)|Decision Making Reflex Epilepsy|Eating-Induced Epilepsies|Eating Induced Epilepsy|Eating-Induced Epilepsy|Eating-Induced Reflex Epilepsies|Eating-Induced Reflex Epilepsy|Epilepsies, Audiogenic Reflex|Epilepsies, Cursive|Epilepsies, Eating-Induced|Epilepsies, Eating-Induced Reflex|Epilepsies, Immersion Related|Epilepsies, Musicogenic|Epilepsies, Musicogenic Reflex|Epilepsies, Photosensitive|Epilepsies, Photosensitive Reflex|Epilepsies, Reading|Epilepsies, Reading Reflex|Epilepsies, Reflex|Epilepsies, Tactile Reflex|Epilepsies, Writing-Induced Reflex|Epilepsy, Audiogenic|Epilepsy, Audiogenic Reflex|Epilepsy, Cursive|Epilepsy, Cursive Reflex (Running)|Epilepsy, Eating-Induced|Epilepsy, Eating-Induced Reflex|Epilepsy, Immersion Related|Epilepsy, Musicogenic|Epilepsy, Musicogenic Reflex|Epilepsy, Photogenic|Epilepsy, Photosensitive|Epilepsy, Photosensitive Reflex|Epilepsy, Reading|Epilepsy, Reading Reflex|Epilepsy, Tactile Reflex|Epilepsy, Writing-Induced Reflex|Immersion Related Epilepsies|Immersion Related Epilepsy|Musicogenic Epilepsies|Musicogenic Epilepsy|Musicogenic Reflex Epilepsies|Musicogenic Reflex Epilepsy|Photosensitive Epilepsies|Photosensitive Epilepsy|Photosensitive Reflex Epilepsies|Photosensitive Reflex Epilepsy|Reading Epilepsies|Reading Epilepsy|Reading Reflex Epilepsies|Reading Reflex Epilepsy|Reflex Epilepsies|Reflex Epilepsies, Audiogenic|Reflex Epilepsies, Cursive (Running)|Reflex Epilepsies, Eating-Induced|Reflex Epilepsies, Musicogenic|Reflex Epilepsies, Photosensitive|Reflex Epilepsies, Reading|Reflex Epilepsies, Tactile|Reflex Epilepsies, Writing-Induced|Reflex Epilepsy|Reflex Epilepsy, Audiogenic|Reflex Epilepsy, Cursive (Running)|Reflex Epilepsy, Eating Induced|Reflex Epilepsy, Eating-Induced|Reflex Epilepsy, Musicogenic|Reflex Epilepsy, Photosensitive|Reflex Epilepsy, Reading|Reflex Epilepsy, Tactile|Reflex Epilepsy, Visual Pattern|Reflex Epilepsy, Writing-Induced|Tactile Reflex Epilepsies|Tactile Reflex Epilepsy|Visual Pattern Reflex Epilepsy|Writing-Induced Reflex Epilepsies|Writing Induced Reflex Epilepsy|Writing-Induced Reflex Epilepsy
C537532||Seckel like syndrome type Buebel
C566057||Thrombophilia due to Thrombomodulin Defect
C536202||Elastosis perforans serpiginosa|Elastoma intrapapillare perforans verruciformis|Miescher elastoma
C537530||Sebaceous gland hyperplasia, familial presenile
D004940||Esophageal Stenosis|Esophageal Stenoses|Esophageal Stricture|Stenoses, Esophageal|Stenosis, Esophageal|Stricture, Esophageal
D004942||Esophagitis, Peptic|Esophagitides, Peptic|Esophagitides, Reflux|Esophagitis, Reflux|Peptic Esophagitides|Peptic Esophagitis|Reflux Esophagitides|Reflux Esophagitis
D004941||Esophagitis|Esophagitides
C562592|278760||Xeroderma Pigmentosum, Complementation Group F|Xeroderma Pigmentosum Vi|XERODERMA PIGMENTOSUM VI;XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED|XP6|XPF|XPF/CS, INCLUDED|XP, Group F
C567938|107100||Anorectal Anomalies
D063205||Pneumorrhachis|Epidural Pneumorrhachi|Epidural Pneumorrhachis|Pneumorrhachi|Pneumorrhachi, Epidural|Pneumorrhachis, Epidural|Pneumorrhachis, Subarachnoid|Pneumorrhachi, Subarachnoid|Subarachnoid Pneumorrhachi|Subarachnoid Pneumorrhachis
C580359||Palmoplantar Keratoderma with Deafness|Palmoplantar Hyperkeratosis-Deafness Syndrome|Palmoplantar Hyperkeratosis-Hearing Loss Syndrome|Palmoplantar Keratoderma-Deafness Syndrome|Palmoplantar Keratoderma-Hearing Loss Syndrome|Ppk-Deafness Syndrome|Ppk with Deafness
141750|C563050||Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE|ATR-16 Syndrome|ATR, DELETION-TYPE|CHROMOSOME 16p DELETION SYNDROME|HBHR|Hemoglobin H-Related Mental Retardation|Mental Retardation with Hemoglobin H
C566065||Thalassemia, Beta+, Silent Allele
D016920||Meningitis, Bacterial|Bacterial Meningitides|Bacterial Meningitis|Meningitides, Bacterial
C567398||Lymphedema, Cardiac Septal Defects, And Characteristic Facies|Irons-Bianchi Syndrome|Lymphedema, Atrial Septal Defect, And Characteristic Facies
C537523||Sclerosing bone dysplasia mental retardation|Mixed sclerosing bone dysplasia and mental retardation
C566066||Tetramelic Monodactyly
D016921||Meningitis, Fungal|Fungal Meningitides|Fungal Meningitis|Fungal Pachymeningitides|Fungal Pachymeningitis|Meningitides, Fungal|Pachymeningitides, Fungal|Pachymeningitis, Fungal
C537524||Sclerosing lymphocytic lobulitis|Sclerosing lymphocytic lobulitis of the breast
C566067||Forebrain Defects
C537529||Seaver Cassidy syndrome
C566060||Thrombasthenia-Thrombocytopenia, Hereditary
C566062||Thoracopelvic Dysostosis
C537528||Scott Bryant Graham syndrome|Craniodigital syndrome-mental retardation, Scott type|Craniodigital syndrome with mental retardation|Scott craniodigital syndrome with mental retardation
C566063||Thoracic Dysostosis, Isolated
D020188||Sleep Paralysis|Paralysis, Sleep
D020187||REM Sleep Behavior Disorder|Behavior Disorder, Rapid Eye Movement Sleep|Behavior Disorder, REM|Behavior Disorders, REM|Rapid Eye Movement Sleep Behavior Disorder|REM Behavior Disorder|REM Behavior Disorders
C537540||Microcephaly seizures genital hypoplasia|Microcephaly micropenis convulsions|Microcephaly micropenis seizures
D020186||Sleep Bruxism|Adult Sleep Bruxism|Adult Sleep Bruxisms|Bruxism, Nocturnal|Bruxism, Sleep|Bruxism, Sleep-Related|Bruxisms, Nocturnal|Bruxisms, Sleep|Bruxisms, Sleep-Related|Childhood Sleep Bruxism|Childhood Sleep Bruxisms|Nocturnal Bruxism|Nocturnal Bruxisms|Nocturnal Teeth Grinding Disorder|Sleep Bruxism, Adult|Sleep Bruxism, Childhood|Sleep Bruxisms|Sleep Bruxisms, Adult|Sleep Bruxisms, Childhood|Sleep Related Bruxism|Sleep-Related Bruxism|Sleep-Related Bruxisms|Teeth Grinding Disorder, Nocturnal
C535330|214900||Aagenaes syndrome|AAGENAES SYNDROME|CHLS|Cholestasis lymphedema syndrome|Cholestasis-Lymphedema Syndrome|LCS|LCS1|Lymphedema - cholestasis syndrome|Lymphedema-Cholestasis Syndrome
D020184||Night Terrors|Adult Night Terror|Adult Night Terrors|Adult Pavor Nocturnus|Childhood Night Terror|Childhood Night Terrors|Childhood Pavor Nocturnus|Night Terror, Adult|Night Terror, Childhood|Night Terror, Primary|Night Terrors, Adult|Night Terrors, Childhood|Night Terror, Secondary|Night Terrors, Primary|Night Terrors, Secondary|Nocturnus, Adult Pavor|Nocturnus, Childhood Pavor|Pavor Nocturnus|Pavor Nocturnus, Adult|Pavor Nocturnus, Childhood|Primary Night Terror|Primary Night Terrors|Secondary Night Terror|Secondary Night Terrors|Sleep Terror|Sleep Terror Disorder|Sleep Terrors|Terror, Adult Night|Terror, Childhood Night|Terror, Primary Night|Terrors, Adult Night|Terrors, Childhood Night|Terror, Secondary Night|Terror, Sleep|Terrors, Primary Night|Terrors, Secondary Night|Terrors, Sleep
C537543||Microcephaly pontocerebellar hypoplasia dyskinesia
C566068||Tendons, Extensor, of Fingers, Anomalous Insertion of
D020183||Nocturnal Paroxysmal Dystonia|Dystonia, Hypnogenic Paroxysmal|Dystonia, Nocturnal Paroxysmal|Dystonia, Nocturnal, Paroxysmal|Dystonias, Hypnogenic Paroxysmal|Dystonia, Sleep-Related|Dystonias, Nocturnal Paroxysmal|Dystonias, Sleep-Related|Hypnogenic Paroxysmal Dystonia|Hypnogenic Paroxysmal Dystonias|Nocturnal Paroxysmal Dystonias|Paroxysmal Dystonia, Hypnogenic|Paroxysmal Dystonia, Nocturnal|Paroxysmal Dystonias, Hypnogenic|Paroxysmal Dystonias, Nocturnal|Sleep Related Dystonia|Sleep-Related Dystonia|Sleep-Related Dystonias
C537544||Microcephaly seizures mental retardation heart disorders|Microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities
C566069||Arthrogryposis, Distal, Type 10|Tendo Calcaneus, Short
D020182||Sleep Apnea, Central|Alveolar Hypoventilation, Central|Alveolar Hypoventilations, Central|Apnea, Central|Apnea, Central Sleep|Apneas, Central|Apneas, Central Sleep|Apnea, Sleep, Central|Breathing, Central Sleep-Disordered|Breathings, Central Sleep-Disordered|Central Alveolar Hypoventilation|Central Alveolar Hypoventilation Syndrome|Central Apnea|Central Apneas|Central Sleep Apnea|Central Sleep Apnea, Primary|Central Sleep Apneas|Central Sleep Apnea, Secondary|Central Sleep Apnea Syndrome|Central Sleep Disordered Breathing|Central Sleep-Disordered Breathing|Central Sleep-Disordered Breathings|Hypoventilation, Central Alveolar|Hypoventilations, Central Alveolar|Newborn Primary Sleep Apneas|Ondine Syndrome|Primary Central Sleep Apnea|Primary Sleep Apneas of Newborn|Secondary Central Sleep Apnea|Sleep Apnea, Lethal Central|Sleep Apnea, Newborn, Primary|Sleep Apneas, Central|Sleep Disordered Breathing, Central|Sleep-Disordered Breathing, Central|Sleep-Disordered Breathings, Central
C537541||Microcephaly microphthalmos blindness
D020181||Sleep Apnea, Obstructive|Apnea/Hypopnea Syndrome, Sleep|Apnea/Hypopnea Syndromes, Sleep|Apnea, Obstructive Sleep|Apneas, Obstructive Sleep|Obstructive Sleep Apnea|Obstructive Sleep Apneas|Obstructive Sleep Apnea Syndrome|OSAHS|Sleep Apnea/Hypopnea Syndrome|Sleep Apnea/Hypopnea Syndromes|Sleep Apneas, Obstructive|Sleep Apnea Syndrome, Obstructive|Syndrome, Obstructive Sleep Apnea|Syndrome, Sleep Apnea/Hypopnea|Syndrome, Sleep Apnea, Obstructive|Syndromes, Sleep Apnea/Hypopnea|Syndrome, Upper Airway Resistance, Sleep Apnea|Upper Airway Resistance Sleep Apnea Syndrome
C537542||Microcephaly nonsyndromal|Nonsyndromal microcephaly|Nonsyndromic microcephaly
D020189||Nocturnal Myoclonus Syndrome|Excessive Periodic Sleep Related Leg Movements|Excessive Periodic Sleep-Related Leg Movements|Myoclonus Syndrome, Nocturnal|Myoclonus Syndrome, Sleep|Myoclonus Syndromes, Sleep|Nocturnal Myoclonus Syndromes|Periodic Leg Movements, Excessive, Sleep-Related|Periodic Limb Movement Disorder|Periodic Movement Disorder, Sleep|Sleep Disorder, Periodic Movements|Sleep Myoclonus Syndrome|Sleep Myoclonus Syndromes|Sleep Related Periodic Leg Movements, Excessive|Sleep-Related Periodic Leg Movements, Excessive|Syndrome, Nocturnal Myoclonus|Syndrome, Sleep Myoclonus|Syndromes, Sleep Myoclonus
D015605||Cowpox|Cow Pox|Pox, Cow
C563957|600321||Diabetes Mellitus, Insulin-Dependent, 7|IDDM7|Insulin-Dependent Diabetes Mellitus 7
C567636|613341||Leber Congenital Amaurosis 14|LCA14|Retinal Dystrophy, Early-Onset Severe, Lrat-Related|RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED|Retinitis Pigmentosa, Juvenile, Lrat-Related|RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED
607475|C564392||Bothnia Retinal Dystrophy|Vasterbotten Dystrophy
612527|C567281||Diamond-Blackfan Anemia 4|DBA4
C580365||Pdgfrb-Associated Chronic Eosinophilic Leukemia|Atypical Philadelphia-Negative Chronic Myeloid Leukemia|Chronic Myeloproliferative Disorder with Eosinophilia|Clonal Eosinophilia with Chronic Myeloproliferative Disorder|Primary Eosinophilia with Chronic Myeloproliferative Disorder
C565353|605225||Inflammatory Bowel Disease 7|IBD7
C537536||Seemanova Lesny syndrome
C536205||Ellis Yale Winter syndrome
C580364||Pdgfra-Associated Chronic Eosinophilic Leukemia|Chronic Eosinophilic Leukemia|Pdgfra-Associated Myeloproliferative Neoplasm
C566076||Teeth, Odd Shapes Of|Conical Teeth, Multiple|Lobodontia
C536203||Elejalde Disease|Melanolysosomal neurocutaneous syndrome|Neuroectodermal melanolysosomal disease|Neuro-ectodermal melanolysosomal syndrome
C537535||Secretory breast carcinoma
C536204||Elliott Ludman Teebi syndrome
C537538||Segmentation syndrome 1|Klippel-Feil syndrome with laryngeal malformation
C536207||Citrulline transport defect
C567354|612301||Osteopetrosis, Autosomal Recessive 7|OPTB7|Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia
C537539||Microcephaly microcornea syndrome Seemanova type
C536208||Clark-Baraitser syndrome|Baraitser Syndrome
D020177||Hypersomnolence, Idiopathic|CNS Hypersomnolence, Idiopathic|CNS Hypersomnolences, Idiopathic|Hypersomnia, Idiopathic|Hypersomnias, Idiopathic|Hypersomnolence, CNS, Idiopathic|Hypersomnolence, Idiopathic CNS|Hypersomnolences, Idiopathic|Hypersomnolences, Idiopathic CNS|Idiopathic Central Nervous System Hypersomnolence|Idiopathic CNS Hypersomnolence|Idiopathic CNS Hypersomnolences|Idiopathic Hypersomnia|Idiopathic Hypersomnias|Idiopathic Hypersomnolence|Idiopathic Hypersomnolences
C566039||Colorectal Cancer, Hereditary Nonpolyposis, Type 6|Colon Cancer, Hereditary Nonpolyposis, Type 6|HNPCC6
D019189||Iron Metabolism Disorders|Disorder, Iron Metabolism|Disorders, Iron Metabolism|Iron Metabolism Disorder|Metabolism Disorder, Iron|Metabolism Disorders, Iron
D004927||Escherichia coli Infections|E coli Infection|E coli Infections|Escherichia coli Infection|Infection, E coli|Infection, Escherichia coli|Infections, E coli|Infections, Escherichia coli
C567369||Retinitis Pigmentosa, Late-Onset Dominant
C566038||Tremor of Intention, Ataxia, and Lipofuscinosis
C567500|611892||Aneurysm, Intracranial Berry, 6|ANIB6
C567481|300695||Scapuloperoneal Myopathy, X-Linked Dominant|Scapuloperoneal Myopathy, FHL1-Related|SPM
C536415|260000||Primary hyperoxaluria type 2|D-glycerate dehydrogenase deficiency|Glyceric aciduria|Glyoxylate reductase/hydroxypyruvate reductase deficiency|HP2|Hyperoxaluria, Primary, Type II|Oxalosis 2|Oxalosis II
D016908||Gram-Positive Bacterial Infections|Bacterial Infection, Gram-Positive|Bacterial Infections, Gram Positive|Bacterial Infections, Gram-Positive|Gram-Positive Bacterial Infection|Gram Positive Bacterial Infections|Infection, Gram-Positive Bacterial|Infections, Gram Positive Bacterial|Infections, Gram-Positive Bacterial
D020179||Jet Lag Syndrome|Jet Lag Syndromes|Time Zone Change Syndrome|Time Zone Syndrome|Time Zone Syndromes
C565168|120790||Complement Component 4, Partial Deficiency Of
D020178||Sleep Disorders, Circadian Rhythm|Advanced Sleep Phase Syndrome|Circadian Rhythm Sleep Disorders|Cycle Disorder, Sleep-Wake|Cycle Disorders, Sleep-Wake|Delayed Sleep Phase Syndrome|Delayed Sleep-Phase Syndrome|Disturbed Nyctohemeral Rhythm|Disturbed Nyctohemeral Rhythms|Non 24 Hour Sleep Wake Disorder|Non-24 Hour Sleep-Wake Disorder|Nonorganic Sleep Wake Cycle Disorders|Nyctohemeral Rhythm, Disturbed|Nyctohemeral Rhythms, Disturbed|Shift Work Sleep Disorder|Shift-Work Sleep Disorder|Shift-Work Sleep Disorders|Sleep Disorder, Shift Work|Sleep Disorder, Shift-Work|Sleep Disorders, Shift-Work|Sleep-Wake Cycle Disorder|Sleep Wake Cycle Disorders|Sleep-Wake Cycle Disorders|Sleep Wake Disorder, Non 24 Hour|Sleep-Wake Disorder, Non-24 Hour|Sleep-Wake Schedule Disorder|Sleep Wake Schedule Disorders|Sleep-Wake Schedule Disorders
143470||HYPERALPHALIPOPROTEINEMIA 1|CETP DEFICIENCY HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10, INCLUDED|CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY|HALP1|HDLCQ10, INCLUDED
D016905||Gram-Negative Bacterial Infections|Bacterial Infection, Gram-Negative|Bacterial Infections, Gram Negative|Bacterial Infections, Gram-Negative|Gram-Negative Bacterial Infection|Gram Negative Bacterial Infections|Infection, Gram-Negative Bacterial|Infections, Gram Negative Bacterial|Infections, Gram-Negative Bacterial
C580334||Nonsyndromic Deafness|Isolated Deafness|Nonsyndromic Hearing Impairment|Nonsyndromic Hearing Loss|Undifferentiated Deafness
C580335||Nonsyndromic Holoprosencephaly|Isolated Holoprosencephaly|Isolated Hpe|Nonsyndromic Hpe|Non-Syndromic, Non-Chromosomal Holoprosencephaly|Non-Syndromic, Non-Chromosomal Hpe
C567374||Skin/Hair/Eye Pigmentation, Variation In, 11|SHEP11|Skin/Hair/Eye Pigmentation 11, Blue/Nonblue Eyes
C566043||Torus Palatinus and Torus Mandibularis
C567376||Skin/Hair/Eye Pigmentation, Variation In, 10|SHEP10|Skin/Hair/Eye Pigmentation 10, Blond/Brown Hair
611390||SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE|ARSAL|AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY|SPAX3
C566045||Tibial Torsion, Bilateral Medial
C567370||Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related|Arcii
609056|C563799||Amish Infantile Epilepsy Syndrome|Epilepsy Syndrome, Infantile-Onset Symptomatic|GM3 Synthase Deficiency
C563236|273300||Testicular Germ Cell Tumor|EMBRYONAL CELL CARCINOMA, INCLUDED|ENDODERMAL SINUS TUMOR, INCLUDED|MALE GERM CELL TUMOR;MGCT SEMINOMA, INCLUDED|NONSEMINOMATOUS GERM CELL TUMORS, INCLUDED|SPERMATOCYTIC SEMINOMA, INCLUDED|TERATOMA, TESTICULAR, INCLUDED|TGCT
C538331|161000||Naegeli syndrome|Naegeli-Franceschetti-Jadassohn Syndrome|NFJS|NFJ SYNDROME
C567195|612714||Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
D004937||Esophageal Fistula|Esophageal Fistulas|Fistula, Esophageal|Fistulas, Esophageal
181750||SCLERODERMA, FAMILIAL PROGRESSIVE|SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO CREST SYNDROME, INCLUDED
D004936||Diverticulum, Esophageal|Diverticula, Esophageal|Esophageal Diverticula|Esophageal Diverticulum
C566511|609579||Scaphocephaly, Maxillary Retrusion, And Mental Retardation
D003607||Dacryocystitis|Dacryoadenitides|Dacryoadenitis|Dacryocystitides
D004939||Esophageal Perforation|Esophageal Perforations|Perforation, Esophageal|Perforations, Esophageal
D020163||Ornithine Carbamoyltransferase Deficiency Disease|Deficiencies, Ornithine Transcarbamylase|Deficiencies, OTC|Deficiency Disease, Ornithine Carbamoyltransferase|Deficiency Disease, Ornithine Transcarbamylase|Deficiency, Ornithine Transcarbamylase|Deficiency, OTC|Ornithine Carbamoyltransferase Deficiency|Ornithine Transcarbamylase Deficiencies|Ornithine Transcarbamylase Deficiency|Ornithine Transcarbamylase Deficiency Disease|Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To|OTC Deficiencies|OTC Deficiency
C566046||Tibia, Hypoplasia of, with Polydactyly|Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia
D004933||Esophageal Atresia|Atresia, Esophageal|Atresias, Esophageal|Esophageal Atresias
D004932||Esophageal and Gastric Varices|Esophageal Varices|Esophageal Varix|Gastric Varices|Gastric Varix|Varices, Esophageal|Varices, Gastric|Varix, Esophageal|Varix, Gastric
D004935||Esophageal Diseases|Disease, Esophageal|Diseases, Esophageal|Esophageal Disease
C566049||Thyrotropin-Releasing Hormone Resistance, Generalized
D004934||Esophageal Cyst|Cyst, Esophageal|Cysts, Esophageal|Esophageal Cysts
D019190||Iron Overload|Overload, Iron
C562420|113200||Brachydactyly, Type D|BDD|Stub Thumb
D004931||Esophageal Achalasia|Achalasia|Achalasia, Esophageal|Achalasias|Achalasias, Esophageal|Cardiospasm|Cardiospasms|Esophageal Achalasias|Megaesophagus
D016919||Meningitis, Cryptococcal|Cerebral Cryptococcoses|Cerebral Cryptococcoses, Granulomous|Cerebral Cryptococcosis|Cerebral Cryptococcosis, Granulomous|Cryptococcal Meningitides|Cryptococcal Meningitis|Cryptococcoses, Cerebral|Cryptococcoses, Granulomous Cerebral|Cryptococcosis, Cerebral|Cryptococcosis, Granulomous Cerebral|Granulomous Cerebral Cryptococcoses|Granulomous Cerebral Cryptococcosis|Meningitides, Cryptococcal|Toruloma|Torulomas
C567876|612881||Heterotopia, Periventricular, Associated With Chromosome 5q Deletion|Periventricular Nodular Heterotopia 5|PVNH5
310200||MUSCULAR DYSTROPHY, DUCHENNE TYPE|DMD DUCHENNE MUSCULAR DYSTROPHY|MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE
D016916||Joint Deformities, Acquired|Acquired Joint Deformities|Acquired Joint Deformity|Deformities, Acquired Joint|Deformity, Acquired Joint|Joint Deformity, Acquired
D016917||Angiomatosis, Bacillary|Angiomatoses, Bacillary|Angiomatoses, Bacillary Epithelioid|Angiomatoses, Epithelioid|Angiomatosis, Bacillary Epithelioid|Angiomatosis, Epithelioid|Bacillary Angiomatoses|Bacillary Angiomatosis|Bacillary Epithelioid Angiomatoses|Bacillary Epithelioid Angiomatosis|Epithelioid Angiomatoses|Epithelioid Angiomatoses, Bacillary|Epithelioid Angiomatosis|Epithelioid Angiomatosis, Bacillary
D016918||Arthritis, Reactive|Arthritides, Postinfectious|Arthritides, Post-Infectious|Arthritides, Reactive|Arthritis, Postinfectious|Arthritis, Post Infectious|Arthritis, Post-Infectious|Disease, Reiter|Disease, Reiter&apos;s|Postinfectious Arthritides|Post-Infectious Arthritides|Postinfectious Arthritis|Post Infectious Arthritis|Post-Infectious Arthritis|Reactive Arthritides|Reactive Arthritis|Reiter Disease|Reiter&apos;s Disease|Reiters Disease|Reiter Syndrome|Syndrome, Reiter
C563886|608647||Ciliary Dyskinesia, Primary, 5|CILD5|Ciliary Dyskinesia, Primary, 5, with or without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS
611383||USHER SYNDROME, TYPE IID|USH2D
C567385||Chromosome 10q23 Deletion Syndrome
C566053||Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
607602|C564367||Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis|AEI|CIEHK|Epidermolytic Ichthyosis, Annular
C566054||Thumb Deformity And Alopecia
C566055||Bleeding Disorder due to Defective Thromboxane A2 Receptor
607087|C564627||Aortic Aneurysm, Familial Thoracic 2|AAT2|FAA2
C564664|606768||Myopathy, Distal, with Anterior Tibial Onset|DMAT
C566051||Takao VCF Syndrome
C566017||Parkinson Disease 5
C567348||Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive
C566018||Twinning due to Superfetation|Superfetation Twinning
C566019||Tune Deafness|Amusia, Congenital|Dysmelodia
D020151||Protein C Deficiency|Deficiencies, Protein C|Deficiency, Protein C|Hereditary Thrombophilia Due To Protein C Deficiency|Protein C Deficiencies
C563961|600316||Deafness, Autosomal Recessive 3|DFNB3|Neurosensory Nonsyndromic Recessive Deafness 3|NSRD3
C566583|602087||Arrhythmogenic Right Ventricular Dysplasia, Familial, 4|Arrhythmogenic Right Ventricular Cardiomyopathy 4|ARVC4|ARVD4
300856||HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO|HYSP4
C566013||Urate-Binding Globulin, Decrease in
D020150||Chorea Gravidarum|Chorea Gravidarums|Chorea, Pregnancy Induced|Chorea, Pregnancy-Induced|Choreas, Pregnancy-Induced|Choreoathetoses, Pregnancy-Associated|Choreoathetosis, Pregnancy Associated|Choreoathetosis, Pregnancy-Associated|Gravidarum, Chorea|Pregnancy-Associated Choreoathetoses|Pregnancy-Associated Choreoathetosis|Pregnancy-Induced Chorea|Pregnancy-Induced Choreas
C567344||Chromosome 2q31.2 Deletion Syndrome
C566014||Undritz Anomaly|Hypersegmentation of Nuclei of Polymorphonuclear Leukocytes
C567086|611783||Erythrocytosis, Familial, 4|ECYT4
C567347||Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant
C567346||Chromosome 1q43-Q44 Deletion Syndrome|Chromosome 1qter Deletion Syndrome
608236|C564269||Slowed Nerve Conduction Velocity, Autosomal Dominant
C567739|135700||Fibrosis of Extraocular Muscles, Congenital, 3B|Blepharoptosis with Absent Eye Movements|CFEOM1|CFEOM3B|CFEOM3B, INCLUDED|FEOM1|FEOM1 LOCUS FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED|Fibrosis Of Extraocular Muscles, Congenital, 1|Ophthalmoplegia, Congenital
601471|C536386||Facial paresis, hereditary, congenital|FACIAL PALSY, CONGENITAL, UNILATERAL OR BILATERAL|FACIAL PARESIS, HEREDITARY CONGENITAL, 1|FACIAL PARESIS, HEREDITARY CONGENITAL, 2|HCFP1|HCFP2|MBS2, FORMERLY|MBS3, FORMERLY|MOBIUS SYNDROME 2, FORMERLY|MOBIUS SYNDROME 3, FORMERLY|MOEBIUS SYNDROME 2, FORMERLY|MOEBIUS SYNDROME 3, FORMERLY
607450|C564400||Arrhythmogenic Right Ventricular Dysplasia, Familial, 8|Arrhythmogenic Right Ventricular Cardiomyopathy 8|ARVC8|ARVD8
D020157||Amino Acid Transport Disorders, Inborn|Inborn Transport Disorders, Amino Acid|Inherited Amino Acid Transport Disorders|Transport Disorders, Amino Acid, Inborn
C565184|610758||Cerebrooculofacioskeletal Syndrome 4|COFS4
C580316||Myofibrillar Myopathy|Myofibrillar Myopathies
611377||BRACHYDACTYLY, TYPE B2|BDB2
D052582||Trigger Finger Disorder|Digits, Trigger|Digit, Trigger|Entrapment, Flexor Tendon|Entrapments, Flexor Tendon|Finger, Snapping|Fingers, Snapping|Flexor Tendon Entrapment|Flexor Tendon Entrapments|Snapping Finger|Snapping Fingers|Tendon Entrapment, Flexor|Tendon Entrapments, Flexor|Thumbs, Trigger|Thumb, Trigger|Trigger Digit|Trigger Digits|Trigger Thumb|Trigger Thumbs
D033461||Hyperuricemia
D005693|230200||Galactosemias|Classic Galactosemia|Classic Galactosemias|Deficiencies, Galactokinase|Deficiencies, Galactose-1-Phosphate Uridyltransferase|Deficiencies, Galactose-1-Phosphate Uridylyltransferase|Deficiencies, Galactose Epimerase|Deficiencies, GALE|Deficiencies, GALK|Deficiencies, GALT|Deficiencies, Hereditary Galactokinase|Deficiencies, UDP-Galactose-4-Epimerase|Deficiency Disease, Galactokinase|Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase|Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase|Deficiency Diseases, UDP-Galactose-4-Epimerase|Deficiency Disease, UDP Galactose 4 Epimerase|Deficiency Disease, UDP-Galactose-4-Epimerase|Deficiency Disease, UDPglucose 4 Epimerase|Deficiency Disease, UDPglucose 4-Epimerase|Deficiency, Galactokinase|Deficiency, Galactose-1-Phosphate Uridyltransferase|Deficiency, Galactose-1-Phosphate Uridylyltransferase|Deficiency, Galactose Epimerase|Deficiency Galactosemia, Epimerase|Deficiency Galactosemias, Epimerase|Deficiency, GALE|Deficiency, GALK|Deficiency, GALT|Deficiency, Hereditary Galactokinase|Deficiency, UDP-Galactose-4-Epimerase|Epimerase Deficiency Galactosemia|Epimerase Deficiency Galactosemias|Galactokinase Deficiencies|Galactokinase Deficiencies, Hereditary|Galactokinase Deficiency|Galactokinase Deficiency Disease|Galactokinase Deficiency Diseases|Galactokinase Deficiency, Hereditary|Galactose-1-Phosphate Uridyltransferase Deficiencies|Galactose 1 Phosphate Uridyltransferase Deficiency|Galactose-1-Phosphate Uridyltransferase Deficiency|Galactose 1 Phosphate Uridyl Transferase Deficiency Disease|Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease|Galactose-1-Phosphate Uridylyltransferase Deficiencies|Galactose 1 Phosphate Uridylyltransferase Deficiency|Galactose-1-Phosphate Uridylyltransferase Deficiency|Galactose Epimerase Deficiencies|Galactose Epimerase Deficiency|Galactosemia|Galactosemia 2|Galactosemia 2s|Galactosemia 3|Galactosemia 3s|Galactosemia, Classic|GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT|Galactosemia, Epimerase Deficiency|GALACTOSEMIA II|Galactosemia III|Galactosemia IIIs|Galactosemias, Classic|Galactosemias, Epimerase Deficiency|GALE Deficiencies|GALE Deficiency|GALK Deficiencies|GALK Deficiency|GALT Deficiencies|GALT Deficiency|Hereditary Galactokinase Deficiencies|Hereditary Galactokinase Deficiency|UDP-Galactose-4-Epimerase Deficiencies|UDP Galactose 4 Epimerase Deficiency|UDP-Galactose-4-Epimerase Deficiency|UDP Galactose 4 Epimerase Deficiency Disease|UDP-Galactose-4-Epimerase Deficiency Disease|UDP-Galactose-4-Epimerase Deficiency Diseases|UDPglucose 4 Epimerase Deficiency Disease|UDPglucose 4-Epimerase Deficiency Disease|UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency|UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency|Uridyltransferase Deficiencies, Galactose-1-Phosphate|Uridyltransferase Deficiency, Galactose-1-Phosphate|Uridylyltransferase Deficiencies, Galactose-1-Phosphate|Uridylyltransferase Deficiency, Galactose-1-Phosphate|UTP Hexose 1 Phosphate Uridylyltransferase Deficiency|UTP Hexose-1-Phosphate Uridylyltransferase Deficiency|UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease|UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease
C562657|612716||Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency|Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency|Sepiapterin Reductase Deficiency|Spr Deficiency
C566022||Trochlea of the Humerus, Aplasia of
C567353||Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive|PROC Deficiency, Autosomal Recessive|Protein C Deficiency, Autosomal Recessive
C566023||Down Syndrome Critical Region
C567350||Chromosome 2q32-Q33 Deletion Syndrome
D020144||Basal Ganglia Cerebrovascular Disease|Basal Ganglia Vascular Disease|Cerebrovascular Disease, Basal Ganglia|Lenticulostriate Diseases, Vascular|Lenticulostriate Vascular Disease|Lenticulostriate Vascular Diseases|Lenticulostriate Vasculopathies|Lenticulostriate Vasculopathy|Vascular Disease, Basal Ganglia|Vascular Disease, Lenticulostriate|Vascular Diseases, Basal Ganglia|Vascular Diseases, Lenticulostriate|Vascular Lenticulostriate Diseases|Vasculopathies, Lenticulostriate|Vasculopathy, Lenticulostriate
C566028||Triphalangeal Thumb with Double Phalanges
D004915||Leukemia, Erythroblastic, Acute|Acute Erythroblastic Leukemia|Acute Erythroblastic Leukemias|Di Guglielmo Disease|Di Guglielmo&apos;s Disease|Di Guglielmos Disease|Disease, Di Guglielmo|Disease, Di Guglielmo&apos;s|Erythremic Myeloses|Erythremic Myelosis|Erythroblastic Leukemia, Acute|Erythroblastic Leukemias, Acute|Erythroleukemia|Erythroleukemias|Leukemia, Acute Erythroblastic|Leukemia, Myeloid, Acute, M6|Leukemias, Acute Erythroblastic|Myeloid Leukemia, Acute, M6|Myeloses, Erythremic|Myelosis, Erythremic
D020143||Gangliosidoses, GM2|Gangliosidose, GM2|Gangliosidoses GM2|Gangliosidosis, GM2|GM2 Gangliosidose|G(M2) Gangliosidoses|GM2 Gangliosidoses|GM2, Gangliosidoses|GM2 Gangliosidosis
C566029||Triosephosphate Isomerase Deficiency
D020141||Hemostatic Disorders|Disorders, Vascular Hemostatic|Disorder, Vascular Hemostatic|Hemostatic Disorder|Hemostatic Disorders, Vascular|Hemostatic Disorder, Vascular|Vascular Hemostatic Disorder|Vascular Hemostatic Disorders
D020140||Lysosomal Storage Diseases, Nervous System|Lysosomal Enzyme Disorders, Nervous System|Nervous System Lysosomal Enzyme Disorders|Nervous System Lysosomal Storage Diseases
C566024||Transient Myeloproliferative Disorder of Down Syndrome
138900||URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1|GOUT1|GOUT SUSCEPTIBILITY 1|UAQTL1
C566025||Leukemia, Megakaryoblastic, of Down Syndrome
D020149||Manganese Poisoning|Manganese Neurotoxicity Syndrome|Manganese Neurotoxicity Syndromes|Nervous System Diseases, Manganese Induced|Nervous System Diseases, Manganese-Induced|Nervous System Poisoning, Manganese|Neurotoxicity Syndrome, Manganese|Neurotoxicity Syndromes, Manganese|Poisoning, Manganese|Syndrome, Manganese Neurotoxicity|Syndromes, Manganese Neurotoxicity
C538101|311400||Paine syndrome|Microcephaly with spastic diplegia|MICROCEPHALY WITH SPASTIC DIPLEGIA SEEMANOVA SYNDROME I, INCLUDED|Seemanova Syndrome I
C538189|228930||Fuhrmann syndrome|FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY|FUHRMANN SYNDROME
C562799|229050||Folate Malabsorption, Hereditary|Congenital Folate Malabsorption|Folic Acid Transport Defect|Hereditary Folate Malabsorption
D020147||Coagulation Protein Disorders|Blood Coagulation Factor Deficiencies|Coagulation Protein Disorder|Coagulation Proteins Disorder|Coagulation Proteins Disorders|Disorder, Coagulation Protein|Disorder, Coagulation Proteins|Disorders, Coagulation Protein|Disorders, Coagulation Proteins|Protein Disorder, Coagulation|Protein Disorders, Coagulation|Proteins Disorder, Coagulation|Proteins Disorders, Coagulation
D020146||Putaminal Hemorrhage|Brain Hemorrhage, Putaminal|Brain Hemorrhages, Putaminal|Hemorrhage, Putamen|Hemorrhage, Putaminal|Putamen Hemorrhage|Putaminal Hematoma
C580329||Opticospinal Multiple Sclerosis|Opticospinal MS|Optic-Spinal MS|Optic-Spinal Multiple Sclerosis
D020145||Basal Ganglia Hemorrhage|Basal Ganglionic Hemorrhage|Ganglionic Hemorrhage, Basal|Hematoma, Basal Ganglia|Hemorrhage, Basal Ganglia|Hemorrhage, Basal Ganglionic
609048||MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3|CMM3
D051261||Granulomatosis, Orofacial|Granulomatoses, Orofacial|Orofacial Granulomatoses|Orofacial Granulomatosis
612692||AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT|AGM6
610031||POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC|PMGYSA
C567363||Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1|NPHLOP1
C566031||Triglyceride Storage Disease, Type I
C567362||Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2|NPHLOP2
C566032||Trichodysplasia-Xeroderma
C566034||Trichoepitheliomas, Multiple Desmoplastic
D004919||Erythroplasia|Erythroplasias
C567360||Progeroid Syndrome, Congenital, Petty Type
C566030||Triglyceride Storage Disease, Type II
D020132||Anticipation, Genetic|Anticipations, Genetic|Genetic Anticipation|Genetic Anticipations
300831||CK SYNDROME|MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION
C567328||Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
D019142||Hemorrhagic Fever, Ebola|Ebola Hemorrhagic Fever|Ebola Virus Disease
C567325||Pontocerebellar Hypoplasia Type 2B
300833||46,XX SEX REVERSAL 3|46,XX SEX REVERSAL, SOX3-RELATED CHROMOSOME Xq26 DELETION SYNDROME, INCLUDED|CHROMOSOME Xq26 DUPLICATION SYNDROME|SRXX3
C567324||Pontocerebellar Hypoplasia Type 2C
135100|D009221||Myositis Ossificans|Fibrodysplasia Ossificans Progressiva|FOP|Myositis Ossificans Progressiva|Progressive Myositis Ossificans|Progressive Ossifying Myositis
103285|C538052||Propping Zerres syndrome|Acro-dermato-ungual-lacrimal-tooth syndrome|ADULT syndrome|Pigment anomaly ectrodactyly hypodontia
D054331|305700||Sertoli Cell-Only Syndrome|Del Castillo Syndrome|Germinal Cell Aplasia|Sertoli Cell Only Syndrome|SERTOLI CELL-ONLY SYNDROME|SPERMATOGENIC FAILURE, X-LINKED, 1|SPGFX1
D020139||Gastroschisis|Congenital Fissure of the Abdominal Cavity|Gastroschises
D020138||Hyperhomocysteinemia|Hyperhomocysteinemias
C581628||Metatropic Dwarfism, Type II|Metatropic dwarfism, type 2|Metatropic dysplasia 2|Metatropic Dysplasia Type II
D051270||Headache Disorders, Primary|Alarm Clock Headache|Alarm Clock Headaches|Benign Cough Headache|Benign Cough Headaches|Benign Exertional Headache|Benign Exertional Headaches|Clock Headache, Alarm|Clock Headaches, Alarm|Cough Headache|Cough Headache, Benign|Cough Headaches, Benign|Disorder, Primary Headache|Disorders, Primary Headache|Exertional Headache, Benign|Exertional Headaches, Benign|Headache, Alarm Clock|Headache, Benign Cough|Headache, Benign Exertional|Headache, Cough|Headache Disorder, Primary|Headache, Hypnic|Headache, Ice-Pick|Headache, Primary Cough|Headache, Primary Exertional|Headache, Primary Stabbing|Headache, Primary Thunderclap|Headaches, Alarm Clock|Headaches, Benign Cough|Headaches, Benign Exertional|Headaches, Ice-Pick|Headache, Stabbing|Headache Syndrome, Hypnic|Headache Syndromes, Hypnic|Headache, Thunderclap|Hypnic Headache|Hypnic Headache Syndrome|Hypnic Headache Syndromes|Ice Pick Headache|Ice-Pick Headache|Ice-Pick Headaches|Primary Cough Headache|Primary Exertional Headache|Primary Headache Disorder|Primary Headache Disorders|Primary Stabbing Headache|Primary Thunderclap Headache|Stabbing Headache|Thunderclap Headache
235400|C538266||Atypical hemolytic uremic syndrome|AHUS1|AHUS2|AHUS3|AHUS4|AHUS5|AHUS6|AHUS, SUSCEPTIBILITY TO, 1 HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED|AHUS, SUSCEPTIBILITY TO, 2|AHUS, SUSCEPTIBILITY TO, 3|AHUS, SUSCEPTIBILITY TO, 4|AHUS, SUSCEPTIBILITY TO, 5|AHUS, SUSCEPTIBILITY TO, 6|Atypical Hemolytic-Uremic Syndrome|Hemolytic uremic syndrome, atypical|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6|Nonenteropathic Hus|Non-Shiga-Like Toxin-Associated Hus|Non-Stx-Hus
251255|C567101||Microcephaly with Mental Retardation and Digital Anomalies|Jawad Syndrome|JWDS|KELLY SYNDROME|MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES
D007160||Immunoproliferative Disorders|Disorder, Immunoproliferative|Disorders, Immunoproliferative|Immunoproliferative Disorder
D051271||Headache Disorders, Secondary|Analgesic Overuse Headache|Analgesic Overuse Headaches|Analgesic Rebound Headache|Analgesic Rebound Headaches|Disorder, Secondary Headache|Disorders, Secondary Headache|Headache, Analgesic Overuse|Headache, Analgesic Rebound|Headache Disorder, Secondary|Headaches, Analgesic Overuse|Headaches, Analgesic Rebound|Secondary Headache Disorder|Secondary Headache Disorders
D007161||Immunoproliferative Small Intestinal Disease|alpha Chain Disease|alpha-Chain Disease|alpha-Chain Diseases|Disease, alpha-Chain|Diseases, alpha-Chain|Heavy Chain Disease, IgA Type|IPSID|Lymphoma, Mediterranean|Mediterranean Lymphoma
C566000||Glycoprotein IA Deficiency|GP IA Deficiency
C566006||Long Qt Syndrome 1/2
300842||MCLEOD SYNDROME|MCLDS MCLEOD PHENOTYPE|NEUROACANTHOCYTOSIS, MCLEOD TYPE MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE, INCLUDED
C566008||Vasculitis, Lymphocytic, Nodular
300845||MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM|CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB|MYMY4|SYNDROMIC MOYAMOYA DISEASE
C566002||Vertebral Hypoplasia With Lumbar Kyphosis
D019150||Neuroaxonal Dystrophies|Adult Neuroaxonal Dystrophy|Disease, Seitelberger|Disease, Seitelberger&apos;s|Dystrophy, Adult Neuroaxonal|Dystrophy, Infantile Neuroaxonal|Dystrophy, Juvenile Neuroaxonal|Dystrophy, Neuroaxonal|Infantile Neuroaxonal Dystrophy|Juvenile Neuroaxonal Dystrophy|Late Infantile Neuroaxonal Dystrophy|NBIA2A|NBIA, PLA2G6 Related|NBIA, PLA2G6-Related|Neuroaxonal Dystrophy|Neuroaxonal Dystrophy, Adult|Neuroaxonal Dystrophy, Infantile|Neuroaxonal Dystrophy, Juvenile|Neuroaxonal Dystrophy, Late Infantile|Neurodegeneration, PLA2G6 Associated|Neurodegeneration, PLA2G6-Associated|Neurodegeneration With Brain Iron Accumulation 2A|PLA2G6-Associated Neurodegeneration|PLA2G6-Related NBIA|Seitelberger Disease|Seitelberger&apos;s Disease|Seitelbergers Disease
C566004||Venular Insufficiency, Systemic
C565780|604387||Nephronophthisis 3|Nephronophthisis, Adolescent|NPH3|NPHP3
C537252|603552||Hemophagocytic lymphohistiocytosis, familial, 4|FHL4|HLH4|HPLH4
C567040|603585||Congenital Disorder Of Glycosylation, Type IIF|CDG2F|CDGIIF|CDG IIF
D007169||Impetigo|Impetigo Contagiosa
D007177||Inappropriate ADH Syndrome|ADH Syndrome, Inappropriate|Antidiuretic Hormone, Inappropriate Secretion|Inappropriate Vasopressin Secretion Syndrome|Schwartz Bartter Syndrome|Schwartz-Bartter Syndrome|SIADH|Syndrome, Inappropriate ADH|Syndrome of Inappropriate ADH (SIADH) Secretion|Syndrome, Schwartz-Bartter
D007174||Impulse Control Disorders|Disorders, Impulse Control|Disorders, Intermittent Explosive|Explosive Disorder, Intermittent|Impulse-Control Disorders|Intermittent Explosive Disorder|Intermittent Explosive Disorders|Kleptomania
C565292|605804||Dermatitis, Atopic, 3|ATOD3|Dermatitis, Atopic, with Asthma
612671||URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4|GOUT4|GOUT SUSCEPTIBILITY 4|UAQTL4
253260|D028921||Biotinidase Deficiency|Biotinidase Deficiencies|BTD Deficiencies|BTD Deficiency|Carboxylase Deficiency, Multiple, Late-Onset|Deficiencies, Biotinidase|Deficiencies, BTD|Deficiency, Biotinidase|Deficiency, BTD|Deficiency, Multiple Carboxylase, Late-Onset|Late Onset Biotin Responsive Multiple Carboxylase Deficiency|Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency|Late Onset Multiple Carboxylase Deficiency|Late-Onset Multiple Carboxylase Deficiency|MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET|Multiple Carboxylase Deficiency, Late Onset|Multiple Carboxylase Deficiency, Late-Onset
D007172||Erectile Dysfunction|Dysfunction, Erectile|Impotence|Impotence, Male|Impotence, Male Sexual|Male Impotence|Male Sexual Impotence|Sexual Impotence, Male
C567341||Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator|Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator
C566010||Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
C566011||Urticaria, Familial Localized Heat
C566012||Ureter, Bifid Or Double
600698||HIGH MOBILITY GROUP AT-HOOK 2|HMGA2 HIGH MOBILITY GROUP PROTEIN I-C|HMGIC|HIGH MOBILITY GROUP PROTEIN HMGIC BREAKPOINT ASSOCIATED WITH BENIGN LIPOMA|BABL|LIPO HMGIC/LPP FUSION GENE, INCLUDED|HMGIC/LHFP FUSION GENE, INCLUDED|HMGIC/RAD51L1 FUSION GENE, INCLUDED|HMGIC/HEI10 FUSION GENE, INCLUDED|HMGIC/ALDH2 FUSION GENE, INCLUDED|HMGIC/COX6C FUSION GENE, INCLUDED
D019121||Burkholderia Infections|Burkholderia Infection|Infection, Burkholderia|Infections, Burkholderia
C537032|245660||Laryngo onycho cutaneous syndrome|Laryngeal and ocular granulation in indian children|Laryngoonychocutaneous Syndrome|LOCS|Logic syndrome
C567300||Skin/Hair/Eye Pigmentation, Variation In, 4|Shep4|Skin/Hair/Eye Pigmentation 4, Fair/Dark Skin
144700|D002292||Carcinoma, Renal Cell|Adenocarcinoma Of Kidney|ADENOCARCINOMA OF KIDNEY NONPAPILLARY RENAL CARCINOMA 1 LOCUS, INCLUDED|Adenocarcinoma, Renal|Adenocarcinoma, Renal Cell|Adenocarcinomas, Renal Cell|Cancer, Renal Cell|Cancers, Renal Cell|Carcinoma, Collecting Duct|Carcinoma, Collecting Duct (Kidney)|Carcinoma, Hypernephroid|Carcinoma, Nephroid|Carcinomas, Collecting Duct|Carcinomas, Collecting Duct (Kidney)|Carcinomas, Hypernephroid|Carcinomas, Nephroid|Carcinomas, Renal Cell|Chromophil Renal Cell Carcinoma|Chromophobe Renal Cell Carcinoma|Clear Cell Renal Carcinoma|Clear Cell Renal Cell Carcinoma|Collecting Duct Carcinoma|Collecting Duct Carcinoma (Kidney)|Collecting Duct Carcinoma of the Kidney|Collecting Duct Carcinomas|Collecting Duct Carcinomas (Kidney)|Duct Carcinoma, Collecting|Duct Carcinoma, Collecting (Kidney)|Duct Carcinomas, Collecting|Duct Carcinomas, Collecting (Kidney)|Grawitz Tumor|Hypernephroid Carcinoma|Hypernephroid Carcinomas|Hypernephroma|Hypernephromas|Nephroid Carcinoma|Nephroid Carcinomas|NRC1, INCLUDED|Papillary Renal Cell Carcinoma|RCC|RCCP1|Renal Cell Adenocarcinoma|Renal Cell Adenocarcinomas|Renal Cell Cancer|Renal Cell Cancers|Renal Cell Carcinoma|RENAL CELL CARCINOMA, NONPAPILLARY|Renal Cell Carcinoma, Papillary|RENAL CELL CARCINOMA, PAPILLARY, 1|Renal Cell Carcinomas|Renal Collecting Duct Carcinoma|Sarcomatoid Renal Cell Carcinoma|Tumor, Grawitz
C567302||Diamond-Blackfan Anemia 1
C565100|125852||Diabetes Mellitus, Insulin-Dependent, 2|IDDM2|Insulin-Dependent Diabetes Mellitus 2
300816||COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6|COXPD6|ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED
606179|D017824||Bone Cysts, Aneurysmal|Aneurysmal Bone Cysts|Bone Cyst, Aneurysmal|Cyst, Aneurysmal Bone|Cysts, Aneurysmal Bone
300814||NYSTAGMUS 6, CONGENITAL, X-LINKED|NYS6
210250|C537345||Sitosterolemia|Macrothrombocytopenia/Stomatocytosis, Mediterranean|Phytosterolemia|PHYTOSTEROLEMIA MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN, INCLUDED|Plant sterol storage disease|Pseudohomozygous familial hypercholesterolemia|STSL
C567309||Scoliosis, Arachnodactyly, And Blindness
C567308||C6 Deficiency, Subtotal|Complement Component 6 Deficiency, Subtotal
D009798||Ocular Hypertension|Glaucomas, Suspect|Glaucoma, Suspect|Hypertension, Ocular|Hypertensions, Ocular|Ocular Hypertensions|Suspect Glaucoma|Suspect Glaucomas
D008467||Meckel Diverticulum|Diverticulum, Meckel|Meckel&apos;s Diverticulum
D021441||Carcinoma, Pancreatic Ductal|Carcinoma, Ductal, Pancreatic|Carcinoma, Pancreas Duct-Cell|Carcinomas, Pancreas Duct-Cell|Carcinomas, Pancreatic Ductal|Ductal Carcinoma of the Pancreas|Ductal Carcinoma, Pancreatic|Ductal Carcinomas, Pancreatic|Duct Cell Carcinoma of the Pancreas|Duct-Cell Carcinoma of the Pancreas|Duct Cell Carcinoma, Pancreas|Duct-Cell Carcinoma, Pancreas|Duct-Cell Carcinomas, Pancreas|Pancreas Duct-Cell Carcinoma|Pancreas Duct-Cell Carcinomas|Pancreatic Ductal Carcinoma|Pancreatic Ductal Carcinomas|Pancreatic Duct Cell Carcinoma
D008476||Mediastinal Cyst|Cyst, Mediastinal|Cyst, Pericardial|Cysts, Mediastinal|Cysts, Pericardial|Cysts, Thoracic|Cysts, Thymic|Cysts, Tracheal|Cyst, Thoracic|Cyst, Thymic|Cyst, Tracheal|Mediastinal Cysts|Pericardial Cyst|Pericardial Cysts|Thoracic Cyst|Thoracic Cysts|Thymic Cyst|Thymic Cysts|Tracheal Cyst|Tracheal Cysts
609016||LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY|LCHAD DEFICIENCY
D010787||Photosensitivity Disorders|Actinic Dermatitides|Actinic Dermatitides, Chronic|Actinic Dermatitis|Actinic Dermatitis, Chronic|Actinic Reticuloid Syndrome|Actinic Reticuloid Syndromes|Chronic Actinic Dermatitides|Chronic Actinic Dermatitis|Dermatitides, Actinic|Dermatitides, Chronic Actinic|Dermatitis, Actinic|Dermatitis, Chronic Actinic|Disorder, Photosensitivity|Disorders, Photosensitivity|Photodermatitides|Photodermatitis|Photosensitivity Disorder|Photosensitization|Reticuloid Syndrome, Actinic|Reticuloid Syndromes, Actinic|Syndrome, Actinic Reticuloid|Syndromes, Actinic Reticuloid
155720|C536494||Uveal melanoma|Melanoma of the Uvea|Melanoma, Uveal|MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1|MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2|UVM1|UVM2
D008471||Meconium Aspiration Syndrome|Aspiration, Meconium|Aspiration Syndrome, Meconium|Meconium Aspiration|Meconium Inhalation|Syndrome, Meconium Aspiration
D018208|613488||Liposarcoma, Myxoid|Liposarcomas, Myxoid|Myxoid Liposarcoma|Myxoid Liposarcomas
C567738|613115||Neuropathy, Hereditary Sensory And Autonomic, Type IIB|HSAN2A|HSAN2B|HSAN IIA|HSN2A|HSN IIA|Neuropathy, Hereditary Sensory And Autonomic, Type IIA|Neuropathy, Hereditary Sensory, Type IIA
D051299||Post-Dural Puncture Headache|Headache, Postdural Puncture|Headache, Post-Dural Puncture|Headaches, Postdural Puncture|Headaches, Post-Dural Puncture|Postdural Puncture Headache|Post Dural Puncture Headache|Postdural Puncture Headaches|Post-Dural Puncture Headaches|Post-Lumbar Puncture Headache
D051298||Post-Traumatic Headache|Cervicogenic Headache|Cervicogenic Headaches|Headache, Cervicogenic|Headache, Post-Traumatic|Headaches, Cervicogenic|Headaches, Post-Traumatic|Post Traumatic Headache|Post-Traumatic Headaches
C566506|609620||Short QT Syndrome 1|SQT1
D019115||Fasciitis, Necrotizing|Fasciitides, Necrotizing|Fascitides, Necrotizing|Fascitis, Necrotizing|Necrotizing Fasciitides|Necrotizing Fasciitis|Necrotizing Fascitides|Necrotizing Fascitis
D014256|613229||Trichotillomania|Trichotillomanias|TTM
300635|C564469||Lymphoproliferative Syndrome, X-Linked, 2|XIAP Deficiency|XLP2
C566453|609706||Deafness, Autosomal Recessive 53|DFNB53
C567311||Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
C567314||Leukodystrophy, Hypomyelinating, 6|Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
C567313||Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism|Ataxia, Delayed Dentition, and Hypomyelination|Leukodystrophy, Hypomyelinating, 7|Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition
143460||5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR|HTOR
D008479||Mediastinal Neoplasms|Cancer, Mediastinal|Cancer, Mediastinum|Cancer of Mediastinum|Cancer of the Mediastinum|Cancers, Mediastinal|Cancers, Mediastinum|Mediastinal Cancer|Mediastinal Cancers|Mediastinal Neoplasm|Mediastinum Cancer|Mediastinum Cancers|Mediastinum Neoplasm|Mediastinum Neoplasms|Neoplasm, Mediastinal|Neoplasm, Mediastinum|Neoplasms, Mediastinal|Neoplasms, Mediastinum
D008478||Mediastinal Emphysema|Emphysema, Mediastinal|Emphysemas, Mediastinal|Mediastinal Emphysemas|Pneumomediastinum
C563417|600974||Deafness, Autosomal Recessive 7|Deafness, Autosomal Recessive 11|DFNB11|Dfnb7
D008477||Mediastinal Diseases|Disease, Mediastinal|Diseases, Mediastinal|Mediastinal Disease
D007153||Immunologic Deficiency Syndromes|Antibody Deficiency Syndrome|Antibody Deficiency Syndromes|Deficiency Syndrome, Antibody|Deficiency Syndrome, Immunologic|Deficiency Syndrome, Immunological|Deficiency Syndromes, Antibody|Deficiency Syndromes, Immunologic|Deficiency Syndromes, Immunological|Immunological Deficiency Syndrome|Immunological Deficiency Syndromes|Immunologic Deficiency Syndrome|Syndrome, Antibody Deficiency|Syndrome, Immunological Deficiency|Syndrome, Immunologic Deficiency|Syndromes, Antibody Deficiency|Syndromes, Immunological Deficiency|Syndromes, Immunologic Deficiency
D006712|236200||Homocystinuria|CBS Deficiencies|CBS Deficiency|CBS DEFICIENCY HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED|Cystathionine Beta Synthase Deficiency|CYSTATHIONINE BETA-SYNTHASE DEFICIENCY|Cystathionine beta Synthase Deficiency Disease|Cystathionine beta-Synthase Deficiency Disease|Deficiencies, CBS|Deficiency, CBS|Deficiency Disease, Cystathionine beta Synthase|Deficiency Disease, Cystathionine beta-Synthase|HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY|HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
D007154||Immune System Diseases|Disease, Immune|Disease, Immune System|Disease, Immunologic|Disease, Immunological|Diseases, Immune|Diseases, Immune System|Diseases, Immunologic|Diseases, Immunological|Diseases of Immune System|Disorder, Immune|Disorders, Immune|Immune Disease|Immune Diseases|Immune Disorder|Immune Disorders|Immune System Disease|Immunological Disease|Immunological Diseases|Immunologic Disease|Immunologic Diseases
609006||DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT|DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, INCLUDED|DFNB36
225100||ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE|ECTOL2
D008480||Mediastinitis|Inflammation, Mediastinum|Inflammations, Mediastinum|Mediastinitides|Mediastinum Inflammation|Mediastinum Inflammations
D020210||Central Cord Syndrome|Central Cord Injury Syndrome|Central Spinal Cord Syndrome
605429||DEAFNESS, NONSYNDROMIC, MODIFIER 1|DFNM1
C536992|607151||Moyamoya disease 2|MYMY2
D020217||Vertebral Artery Dissection|Artery Dissections, Vertebral|Artery Dissection, Vertebral|Dissecting Vertebral Artery Aneurysm|Dissections, Vertebral Artery|Dissection, Vertebral Artery|Spontaneous Vertebral Artery Dissection|Traumatic Vertebral Artery Dissection|Vertebral Artery Dissections|Vertebral Artery Dissection, Spontaneous|Vertebral Artery Dissection, Traumatic
D020216||Carotid-Cavernous Sinus Fistula|Carotid Artery Cavernous Sinus Fistula|Carotid Artery-Cavernous Sinus Fistula|Carotid Cavernous Sinus Fistula|Carotid-Cavernous Sinus Fistulas|C-C Fistula|C-C Fistulas|Fistula, Carotid Artery Cavernous Sinus|Fistula, Carotid Artery-Cavernous Sinus|Fistula, Carotid-Cavernous Sinus|Fistula, C-C|Fistulas, Carotid-Cavernous Sinus|Fistulas, C-C|Traumatic Carotid Cavernous Sinus Fistula|Traumatic Carotid-Cavernous Sinus Fistula
D007238||Infarction|Infarctions
D020215||Carotid Artery, Internal, Dissection|Carotid Artery Dissection, Internal|Dissection, Internal Carotid Artery|Internal Carotid Artery Dissection
D007239||Infection|Infections
D008569||Memory Disorders|Age-Related Memory Disorder|Age Related Memory Disorders|Age-Related Memory Disorders|Cognitive Retention Disorder|Cognitive Retention Disorders|Deficit, Memory|Deficits, Memory|Memory Deficit|Memory Deficits|Memory Disorder|Memory Disorder, Age-Related|Memory Disorders, Age Related|Memory Disorders, Age-Related|Memory Disorder, Semantic|Memory Disorder, Spatial|Memory Disorders, Semantic|Memory Disorders, Spatial|Memory Loss|Memory Losses|Retention Disorder, Cognitive|Retention Disorders, Cognitive|Semantic Memory Disorder|Semantic Memory Disorders|Spatial Memory Disorder|Spatial Memory Disorders
D020214||Cerebrovascular Trauma|Brain Injury, Vascular|Brain Vascular Injury|Brain Vascular Trauma|Injury, Brain Vascular|Injury, Vascular Brain|Injury, Vascular, Brain|Trauma, Brain Vascular|Trauma, Cerebrovascular|Vascular Brain Injuries|Vascular Brain Injury|Vascular Injury, Brain|Vascular Trauma, Brain|Vascular Traumas, Brain
D020212||Carotid Artery Injuries|Artery Injuries, Carotid|Artery Injury, Carotid|Artery Trauma, Carotid|Carotid Arteriopathies, Traumatic|Carotid Arteriopathy, Traumatic|Carotid Artery Injury|Carotid Artery Trauma|Carotid False Aneurysm|Carotid False Aneurysms|Carotid Pseudoaneurysm|False Aneurysm, Carotid|Injuries, Carotid Artery|Injury, Carotid Artery|Pseudoaneurysm, Carotid|Trauma, Carotid Artery|Traumatic Carotid Arteriopathy
C564248|608389||Branchiootic Syndrome 3|BOS3|BO Syndrome 3
D020211||Autonomic Dysreflexia|Autonomic Dysreflexias|Autonomic Dysreflexia, Spinal|Autonomic Dysreflexias, Spinal|Autonomic Hyperreflexia|Autonomic Hyperreflexias|Dysreflexia, Autonomic|Dysreflexias, Autonomic|Dysreflexia, Spinal Autonomic|Dysreflexias, Spinal Autonomic|Hyperreflexia, Autonomic|Hyperreflexias, Autonomic|Spinal Autonomic Dysreflexia|Spinal Autonomic Dysreflexias
D007235||Infant, Premature, Diseases
D009896||Optic Atrophy|Atrophy, Optic
D008575||Meniere Disease|Auditory Vertigo|Auditory Vertigos|Aural Vertigo|Disease, Meniere|Disease, M&#233;ni&#232;re|Disease, Meniere&apos;s|Disease, M&#233;ni&#232;re&apos;s|Diseases, M&#233;ni&#232;re|Diseases, M&#233;ni&#232;re&apos;s|M&#233;ni&#232;re Disease|M&#233;ni&#232;re Diseases|Meniere&apos;s Disease|Menieres Disease|M&#233;ni&#232;re&apos;s Disease|M&#233;ni&#232;res Disease|M&#233;ni&#232;re&apos;s Diseases|Meniere&apos;s Syndrome|Menieres Syndrome|M&#233;ni&#232;re&apos;s Vertigo|M&#233;ni&#232;res Vertigo|M&#233;ni&#232;re&apos;s Vertigos|Meniere Syndrome|M&#233;ni&#232;re Vertigo|Otogenic Vertigo|Otogenic Vertigos|Syndrome, Meniere&apos;s|Vertigo, Auditory|Vertigo, Aural|Vertigo, M&#233;ni&#232;re&apos;s|Vertigo, Otogenic|Vertigos, Auditory|Vertigos, M&#233;ni&#232;re&apos;s|Vertigos, Otogenic
D007244||Infectious Mononucleosis|Fever, Glandular|Glandular Fever|Mononucleosis, Infectious
D007241||Infectious Bovine Rhinotracheitis|Bovine Rhinotracheitides, Infectious|Bovine Rhinotracheitis, Infectious|Infectious Bovine Rhinotracheitides|Rhinotracheitides, Infectious Bovine|Rhinotracheitis, Infectious Bovine
300623|C564105||Fragile X Tremor Ataxia Syndrome|FRAGILE X TREMOR/ATAXIA SYNDROME|FXTAS
D000505|109200||Alopecia|AGA1|Alopecia, Androgenetic|Alopecia, Androgenetic, 1|Alopecia Cicatrisata|Alopecia Cicatrisatas|Alopecia, Male Pattern|Androgenetic Alopecia|ANDROGENETIC ALOPECIA;AGA BALDNESS, MALE PATTERN, INCLUDED|Androgenic Alopecia|Baldness|Baldness, Male Pattern|Cicatrisata, Alopecia|Cicatrisatas, Alopecia|Female Pattern Baldness|Male Pattern Alopecia|Male Pattern Baldness|MPB, INCLUDED|Pattern Baldness|Pseudopelade
C565467|243000||Indifference to Pain, Congenital, Autosomal Recessive|Asymbolia for Pain|Congenital Analgesia, Autosomal Recessive|Insensitivity to Pain, Channelopathy-Associated
C557830||Duplication 15q11-q13 Syndrome|15q11.2 microdeletion|Chromosome 15q11-q13 Duplication Syndrome|Microdeletion 15q11.2
D019217||Tooth Attrition|Attrition, Dental|Attrition, Tooth|Dental Attrition|Dental Attritions|Occlusal Wear|Occlusal Wears|Wear, Occlusal|Wears, Occlusal
D019214||Gingival Overgrowth|Gingival Overgrowths|Overgrowth, Gingival|Overgrowths, Gingival
C538006|224500||Dystonia musculorum deformans type 2|Dystonia 2, Torsion, Autosomal Recessive|Dystonia Musculorum Deformans 2|Dystonia, torsion, 2, autosomal recessive|DYT2|Torsion dystonia 2|Torsion dystonia 2, autosomal recessive type
C536377|206800||Anonychia congenita|Anonychia|ANONYCHIA/HYPONYCHIA CONGENITA|ANONYCHIA TOTALIS|Hyponychia congenita|NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4|NDNC4
608203|C564275||Neutrophil Immunodeficiency Syndrome
D020207||Coma, Post-Head Injury|Coma, Post Concussive|Coma, Post-Concussive|Coma, Post Head Injury|Coma, Post Trauma|Coma, Post-Trauma|Coma, Post Traumatic|Coma, Post-Traumatic|Coma, Post-Traumatic, Prolonged|Comas, Post-Concussive|Comas, Post-Head Injury|Comas, Post-Trauma|Coma, Traumatic|Post-Concussive Coma|Post-Concussive Comas|Post Head Injury Coma|Post-Head Injury Coma|Post-Head Injury Comas|Post-Trauma Coma|Post-Trauma Comas|Post-Traumatic Coma|Traumatic Coma
D020206||Subarachnoid Hemorrhage, Traumatic|Hemorrhage, Post-Traumatic Subarachnoid|Hemorrhages, Post-Traumatic Subarachnoid|Hemorrhage, Traumatic Subarachnoid|Post Traumatic Subarachnoid Hemorrhage|Post-Traumatic Subarachnoid Hemorrhage|Post-Traumatic Subarachnoid Hemorrhages|Subarachnoid Hemorrhage, Post-Traumatic|Subarachnoid Hemorrhages, Post-Traumatic|Subarachnoid Hemorrhages, Traumatic|Traumatic Subarachnoid Hemorrhage|Traumatic Subarachnoid Hemorrhages
D012555|181460||Schistosomiasis mansoni|Infection, Schistosoma mansoni|Infections, Schistosoma mansoni|Intestinal Schistosomiases|Intestinal Schistosomiasis|Schistosoma mansoni Infection|Schistosoma mansoni Infections|SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO|SCHISTOSOMA MANSONI, INTENSITY OF INFECTION BY|Schistosomiases, Intestinal|Schistosomiasis, Intestinal|SM1
D020205||Skull Fracture, Basilar|Basilar Skull Fracture|Basilar Skull Fractures|Battle Sign|Battle&apos;s Sign|Battles Sign|Fracture, Basilar Skull|Fracture, Frontobasilar Skull|Fractures, Basilar Skull|Fractures, Frontobasilar Skull|Frontobasilar Skull Fracture|Frontobasilar Skull Fractures|Sign, Battle|Sign, Battle&apos;s|Skull Fracture, Basilar, Childhood|Skull Fracture, Frontobasilar|Skull Fractures, Basilar|Skull Fractures, Frontobasilar|Skull Fracture, Transphenoid Basilar
D007249||Inflammation|Inflammations
D020204||Skull Fracture, Depressed|Compound Depressed Skull Fracture|Compound Depressed Skull Fractures|Depressed Skull Fracture|Depressed Skull Fractures|Fracture, Depressed Skull|Fractures, Depressed Skull|Skull Fracture, Compound Depressed|Skull Fractures, Compound Depressed|Skull Fractures, Depressed
C567687|613237||Focal Segmental Glomerulosclerosis 5|FSGS5|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 5
D020203||Brain Stem Hemorrhage, Traumatic|Brainstem Hematomas, Traumatic|Brainstem Hematoma, Traumatic|Brain Stem Hematoma, Traumatic|Brainstem Hemorrhage, Post-Traumatic|Brain Stem Hemorrhage, Post Traumatic|Brain Stem Hemorrhage, Post-Traumatic|Brainstem Hemorrhage, Traumatic|Bulbar Hemorrhage, Traumatic|Hemorrhage, Brain Stem, Traumatic|Hemorrhage, Post-Traumatic Brainstem|Hemorrhage, Traumatic Bulbar|Hemorrhage, Traumatic Medullary|Medullary Hemorrhage, Traumatic|Midbrain Hemorrhage, Traumatic|Pontine Hemorrhage, Traumatic|Post Traumatic Brainstem Hemorrhage|Post-Traumatic Brainstem Hemorrhage|Post Traumatic Brain Stem Hemorrhage|Post-Traumatic Brain Stem Hemorrhage|Traumatic Brainstem Hematoma|Traumatic Brain Stem Hematoma|Traumatic Brainstem Hematomas|Traumatic Brainstem Hemorrhage|Traumatic Brain Stem Hemorrhage|Traumatic Bulbar Hemorrhage|Traumatic Medullary Hemorrhage|Traumatic Midbrain Hemorrhage|Traumatic Pontine Hemorrhage
D007247||Infertility, Female|Female Infertility|Female Sterility|Female Subfertility|Female Sub-Fertility|Postpartum Sterility|Sterility, Female|Sterility, Postpartum|Subfertility, Female|Sub Fertility, Female|Sub-Fertility, Female
D008579||Meningioma|Angioblastic Meningioma|Angioblastic Meningiomas|Angiomatous Meningioma|Angiomatous Meningiomas|Benign Meningioma|Benign Meningiomas|Cerebral Convexity Meningioma|Cerebral Convexity Meningiomas|Clear Cell Meningioma|Clear Cell Meningiomas|Convexity Meningioma, Cerebral|Convexity Meningiomas, Cerebral|Fibrous Meningioma|Fibrous Meningiomas|Groove Meningiomas, Olfactory|Hemangioblastic Meningioma|Hemangioblastic Meningiomas|Hemangiopericytic Meningioma|Hemangiopericytic Meningiomas|Intracranial Meningioma|Intracranial Meningiomas|Intraorbital Meningioma|Intraorbital Meningiomas|Intraventricular Meningioma|Intraventricular Meningiomas|Malignant Meningioma|Malignant Meningiomas|Meningioma, Angioblastic|Meningioma, Angiomatous|Meningioma, Benign|Meningioma, Cerebral Convexity|Meningioma, Clear Cell|Meningioma, Fibrous|Meningioma, Hemangioblastic|Meningioma, Hemangiopericytic|Meningioma, Intracranial|Meningioma, Intraorbital|Meningioma, Intraventricular|Meningioma, Malignant|Meningioma, Meningotheliomatous|Meningioma, Microcystic|Meningioma, Multiple|Meningioma, Olfactory Groove|Meningioma, Papillary|Meningioma, Parasagittal|Meningioma, Posterior Fossa|Meningioma, Psammomatous|Meningiomas|Meningiomas, Angioblastic|Meningiomas, Angiomatous|Meningiomas, Benign|Meningiomas, Cerebral Convexity|Meningiomas, Clear Cell|Meningioma, Secretory|Meningiomas, Fibrous|Meningiomas, Hemangioblastic|Meningiomas, Hemangiopericytic|Meningiomas, Intracranial|Meningiomas, Intraorbital|Meningiomas, Intraventricular|Meningiomas, Malignant|Meningiomas, Meningotheliomatous|Meningiomas, Microcystic|Meningiomas, Multiple|Meningiomas, Olfactory Groove|Meningiomas, Papillary|Meningiomas, Parasagittal|Meningioma, Sphenoid Wing|Meningioma, Spinal|Meningiomas, Posterior Fossa|Meningiomas, Psammomatous|Meningiomas, Secretory|Meningiomas, Sphenoid Wing|Meningiomas, Spinal|Meningiomas, Transitional|Meningiomas, Xanthomatous|Meningiomatoses|Meningiomatosis|Meningioma, Transitional|Meningioma, Xanthomatous|Meningotheliomatous Meningioma|Meningotheliomatous Meningiomas|Microcystic Meningioma|Microcystic Meningiomas|Multiple Meningioma|Multiple Meningiomas|Olfactory Groove Meningioma|Olfactory Groove Meningiomas|Papillary Meningioma|Papillary Meningiomas|Parasagittal Meningioma|Parasagittal Meningiomas|Posterior Fossa Meningioma|Posterior Fossa Meningiomas|Psammomatous Meningioma|Psammomatous Meningiomas|Secretory Meningioma|Secretory Meningiomas|Sphenoid Wing Meningioma|Sphenoid Wing Meningiomas|Spinal Meningioma|Spinal Meningiomas|Transitional Meningioma|Transitional Meningiomas|Wing Meningioma, Sphenoid|Wing Meningiomas, Sphenoid|Xanthomatous Meningioma|Xanthomatous Meningiomas
D020202||Cerebral Hemorrhage, Traumatic|Brain Hemorrhage, Cerebral, Traumatic|Cerebral Hematomas, Traumatic|Cerebral Hematoma, Traumatic|Cerebral Hemorrhages, Traumatic|Cerebral Intraparenchymal Hematoma, Traumatic|Cerebral Intraparenchymal Hemorrhage, Traumatic|Cerebral Parenchymal Hemorrhage, Traumatic|Hematomas, Traumatic Cerebral|Hematoma, Traumatic Cerebral|Hemorrhages, Traumatic Cerebral|Hemorrhages, Traumatic Intracerebral|Hemorrhage, Traumatic Cerebral|Hemorrhage, Traumatic Intracerebral|Intracerebral Hemorrhages, Traumatic|Intracerebral Hemorrhage, Traumatic|Traumatic Cerebral Hematoma|Traumatic Cerebral Hematomas|Traumatic Cerebral Hemorrhage|Traumatic Cerebral Hemorrhages|Traumatic Cerebral Intraparenchymal Hematoma|Traumatic Cerebral Intraparenchymal Hemorrhage|Traumatic Cerebral Parenchymal Hemorrhage|Traumatic Intracerebral Hemorrhage|Traumatic Intracerebral Hemorrhages
D007248||Infertility, Male|Male Infertility|Male Sterility|Male Subfertility|Male Sub-Fertility|Sterility, Male|Subfertility, Male|Sub Fertility, Male|Sub-Fertility, Male
D020201||Brain Hemorrhage, Traumatic|Brain Hemorrhages, Traumatic|Cerebellar Hemorrhages, Traumatic|Cerebellar Hemorrhage, Traumatic|Hemorrhages, Traumatic Cerebellar|Hemorrhage, Traumatic Brain|Hemorrhage, Traumatic Cerebellar|Traumatic Brain Hemorrhage|Traumatic Brain Hemorrhages|Traumatic Cerebellar Hemorrhage|Traumatic Cerebellar Hemorrhages
C567690|613227||Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3|CAMRQ3|Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 3
D008577||Meningeal Neoplasms|Benign Meningeal Neoplasm|Benign Meningeal Neoplasms|Cancer, Meningeal|Cancers, Meningeal|Intracranial Meningeal Neoplasm|Intracranial Meningeal Neoplasms|Leptomeningeal Neoplasm|Leptomeningeal Neoplasms|Malignant Meningeal Neoplasm|Malignant Meningeal Neoplasms|Meningeal Cancer|Meningeal Cancers|Meningeal Neoplasm|Meningeal Neoplasm, Benign|Meningeal Neoplasm, Intracranial|Meningeal Neoplasm, Malignant|Meningeal Neoplasms, Benign|Meningeal Neoplasms, Intracranial|Meningeal Neoplasms, Malignant|Meningeal Neoplasm, Spinal|Meningeal Neoplasms, Spinal|Meningeal Tumor|Meningeal Tumors|Neoplasm, Benign Meningeal|Neoplasm, Intracranial Meningeal|Neoplasm, Leptomeningeal|Neoplasm, Malignant Meningeal|Neoplasm, Meningeal|Neoplasms, Benign Meningeal|Neoplasms, Intracranial Meningeal|Neoplasms, Leptomeningeal|Neoplasms, Malignant Meningeal|Neoplasms, Meningeal|Neoplasm, Spinal Meningeal|Neoplasms, Spinal Meningeal|Spinal Meningeal Neoplasm|Spinal Meningeal Neoplasms|Tumor, Meningeal|Tumors, Meningeal
D020200||Hematoma, Subdural, Chronic|Chronic Subdural Hematoma|Chronic Subdural Hematomas|Hematoma, Chronic Subdural|Hematomas, Chronic Subdural|Hemorrhage, Subdural, Chronic|Subdural Hematoma, Chronic|Subdural Hematomas, Chronic
D007246||Infertility|Reproductive Sterility|Sterility|Sterility, Reproductive|Subfertility|Sub-Fertility
D022861||Hermanski-Pudlak Syndrome|Hermanski Pudlak Syndrome|Hermansky Pudlak Syndrome|Hermansky-Pudlak Syndrome
D008586||Meningitis, Pneumococcal|Experimental Pneumococcal Meningitides|Experimental Pneumococcal Meningitis|Meningitides, Streptococcus pneumoniae|Meningitis, Experimental Pneumococcal|Meningitis, Pneumococcal, Experimental|Meningitis, Pneumococcal, Penicillin-Resistant|Meningitis, Pneumococcal, Recurrent|Meningitis, Streptococcus pneumoniae|Pneumococcal Meningitides|Pneumococcal Meningitides, Experimental|Pneumococcal Meningitis|Pneumococcal Meningitis, Experimental|Streptococcus pneumoniae Meningitides|Streptococcus pneumoniae Meningitis
D008585||Meningitis, Meningococcal|Meningitis, Meningococcal, Serogroup A|Meningitis, Meningococcal, Serogroup B|Meningitis, Meningococcal, Serogroup C|Meningitis, Meningococcal, Serogroup W135|Meningitis, Meningococcal, Serogroup W-135|Meningitis, Meningococcal, Serogroup Y|Meningitis, Meningococcic|Meningococcal Meningitis|Meningococcal Meningitis, Serogroup A|Meningococcal Meningitis, Serogroup B|Meningococcal Meningitis, Serogroup C|Meningococcal Meningitis, Serogroup W135|Meningococcal Meningitis, Serogroup W 135|Meningococcal Meningitis, Serogroup W-135|Meningococcal Meningitis, Serogroup Y|Serogroup A Meningococcal Meningitis|Serogroup B Meningococcal Meningitis|Serogroup C Meningococcal Meningitis|Serogroup W 135, Meningococcal Meningitis|Serogroup W-135, Meningococcal Meningitis|Serogroup W135, Meningococcal Meningitis|Serogroup Y, Meningococcal Meningitis
D008584||Meningitis, Listeria|Cerebritides, Listeria|Cerebritis, Listeria|Listeria Cerebritides|Listeria Cerebritis|Listeria Meningitides|Listeria Meningitis|Listeria Meningoencephalitides|Listeria Meningoencephalitis|Listeria monocytogenes Meningitides|Listeria monocytogenes Meningitis|Meningitides, Listeria|Meningitides, Listeria monocytogenes|Meningitis, Listeria monocytogenes|Meningoencephalitides, Listeria|Meningoencephalitis, Listeria
D008583||Meningitis, Haemophilus|Haemophilus influenzae Meningitis Type B|Haemophilus Meningitides|Haemophilus Meningitis|Haemophilus parainfluenzae Meningitides|Haemophilus parainfluenzae Meningitis|Hemophilus influenzae Meningitis Type B|Hemophilus Meningitides|Hemophilus Meningitis|HiB Meninigitis|Meningitides, Haemophilus|Meningitides, Haemophilus parainfluenzae|Meningitides, Hemophilus|Meningitis, Haemophilus influenzae Type F|Meningitis, Haemophilus parainfluenzae|Meningitis, Hemophilus|Meningitis, Hemophilus influenzae, Type B|Meningitis, Hemophilus influenzae Type F|Meninigitis, HiB|Type B Haemophilus influenzae Meningitis|Type B Hemophilus influenzae Meningitis
D010899||Pituitary Apoplexy|Apoplexy, Pituitary
D008582||Meningitis, Aseptic|Aseptic Meningitis
C557821||Orofaciodigital syndrome 11|Gabrielli syndrome|OFD11|OFDS XI|Oral-facial-digital syndrome 11|Oral-Facial-Digital Syndrome, Type XI|Oral-Facial-Digital Syndrome with Skeletal Anomalies|Orofaciodigital syndrome XI
D007251||Influenza, Human|Flu, Human|Grippe|Human Flu|Human Influenza|Human Influenzas|Influenza|Influenza in Human|Influenza in Humans|Influenzas|Influenzas, Human
D008581||Meningitis|Meningitides|Pachymeningitides|Pachymeningitis
C557820||Orofaciodigital syndrome 8|Oral-facial-digital syndrome 8|Orofaciodigital syndrome VIII
D020209||Cranial Nerve Injuries|Cranial Nerve Injury|Cranial Neuropathies, Traumatic|Cranial Neuropathy, Traumatic|Injuries, Cranial Nerve|Injury, Cranial Nerve|Nerve Injuries, Cranial|Nerve Injury, Cranial|Neuropathies, Traumatic Cranial|Neuropathy, Traumatic Cranial|Traumatic Cranial Neuropathies|Traumatic Cranial Neuropathy
D008580||Meningism|Dupre&apos;s Syndrome|Dupres Syndrome|Dupre Syndrome|Meningisms|Meningismus|Meningitis Like Reaction|Meningitis-Like Reaction|Meningitis-Like Reactions|Pseudomeningitides|Pseudomeningitis|Reaction, Meningitis-Like|Reactions, Meningitis-Like|Syndrome, Dupre|Syndrome, Dupre&apos;s
D020208||Brain Injury, Chronic|Brain Injuries, Chronic|Chronic Brain Injuries|Chronic Brain Injury|Chronic Encephalopathies, Post-Concussive|Chronic Encephalopathy, Post Concussive|Chronic Encephalopathy, Post-Concussive|Chronic Post-Concussive Encephalopathies|Chronic Post Concussive Encephalopathy|Chronic Post-Concussive Encephalopathy|Chronic Post-Traumatic Encephalopathies|Chronic Post Traumatic Encephalopathy|Chronic Post-Traumatic Encephalopathy|Chronic Traumatic Encephalopathy|Encephalopathies, Chronic Post-Concussive|Encephalopathies, Chronic Post-Traumatic|Encephalopathies, Post-Concussive Chronic|Encephalopathy, Chronic Post-Concussive|Encephalopathy, Chronic Post-Traumatic|Encephalopathy, Chronic Traumatic|Encephalopathy, Post-Concussive Chronic|Encephalopathy, Post-Traumatic, Chronic|Injury, Brain, Chronic|Post-Concussive Chronic Encephalopathies|Post-Concussive Chronic Encephalopathy|Post-Concussive Encephalopathies, Chronic|Post-Concussive Encephalopathy, Chronic|Post-Traumatic Encephalopathies, Chronic|Post-Traumatic Encephalopathy, Chronic|Traumatic Encephalopathies, Chronic|Traumatic Encephalopathy, Chronic
D019226||Oral Ulcer|Mouth Ulcer|Mouth Ulcers|Oral Ulcers|Ulcer, Mouth|Ulcer, Oral|Ulcers, Mouth|Ulcers, Oral
C567186|158330||Mullerian Aplasia and Hyperandrogenism|Mullerian Duct Failure and Hyperandrogenism
D009879||Ophthalmia, Sympathetic|Ophthalmias, Sympathetic|Sympathetic Ophthalmia|Sympathetic Ophthalmias|Sympathetic Uveitides|Sympathetic Uveitis|Uveitides, Sympathetic|Uveitis, Sympathetic
D008548||Melanosis|Chloasma|Chloasmas|Freckle|Freckles|Melanism|Melanoses|Melasma|Melasmas
611131|C567005||Retinitis Pigmentosa 37|RP37
D009878||Ophthalmia Neonatorum
D009877||Endophthalmitis|Endophthalmitides|Endophthalmitides, Infectious|Endophthalmitis, Infectious|Infectious Endophthalmitides|Infectious Endophthalmitis|Ophthalmia|Ophthalmias
D008546||Melanoma, Experimental|B16 Melanoma|B16 Melanomas|Cloudman S91 Melanoma|Experimental Melanoma|Experimental Melanomas|Harding Passey Melanoma|Harding-Passey Melanoma|Melanoma, B16|Melanoma, Cloudman S91|Melanoma, Harding Passey|Melanoma, Harding-Passey|Melanomas, B16|Melanomas, Experimental|S91 Melanoma, Cloudman
D008545||Melanoma|Malignant Melanoma|Malignant Melanomas|Melanoma, Malignant|Melanomas|Melanomas, Malignant
263200|D017044||Polycystic Kidney, Autosomal Recessive|ARPKD|Autosomal Recessive Polycystic Kidney|Autosomal Recessive Polycystic Kidney Disease|Kidney, Polycystic, Autosomal Recessive|PKD3, FORMERLY HEPATIC FIBROSIS, CONGENITAL, INCLUDED|PKHD1|Polycystic Kidney and Hepatic Disease 1|Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)|Polycystic Kidney Disease, Autosomal Recessive|Polycystic Kidney Disease, Infantile, Type 1|Polycystic Kidney Disease, Infantile, Type I
D002636|118400||Cherubism|CRBM|Familial Benign Giant-Cell Tumor of the Jaw|Familial Fibrous Dysplasia of Jaw|Familial Multilocular Cystic Disease of the Jaws
D007222||Inert Gas Narcosis|Depth Intoxication|Depth Intoxications|Inert Gas Narcoses|Intoxication, Depth|Intoxications, Depth|Narcoses, Inert Gas|Narcoses, Nitrogen|Narcosis, Inert Gas|Narcosis, Nitrogen|Nitrogen Narcoses|Nitrogen Narcosis
D010864||Pilonidal Sinus|Cyst, Pilonidal|Cysts, Pilonidal|Pilonidal Cyst|Pilonidal Cysts|Sinus, Pilonidal
D008551||Melena|Melenas
C565185|610756||Cerebrooculofacioskeletal Syndrome 2|COFS2
C562710|610549||Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans|Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A|INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS|Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans|IRAN, Type A
C537285|601853||Gomez Lopez Hernandez syndrome|Cerebellotrigeminal dermal dysplasia|Cerebellotrigeminal-dermal dysplasia|CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA|GLH Syndrome|Gomez-Lopez-Hernandez Syndrome
C535479|610158||Corneal dystrophy, Fuchs&apos; endothelial, 2|Corneal Dystrophy, Fuchs Endothelial, 2|Corneal dystrophy, Fuchs&apos; endothelial, late-onset|CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD1 LOCUS|FECD2|Fuchs&apos; endothelial corneal dystrophy 2|Late-onset Fuchs&apos; endothelial corneal dystrophy
D007228||Infant Nutrition Disorders|Infantile Malnutrition|Infant Malnutrition|Infant Nutrition Disorder|Infant Overnutrition|Malnutrition, Infant|Malnutrition, Infantile|Malnutrition in Infant|Malnutrition in Infants|Nutrition Disorder, Infant|Nutrition Disorders, Infant|Overnutrition, Infant
D009889||Opisthorchiasis|Opisthorchiases
D009886||Ophthalmoplegia|External Ophthalmoplegia|External Ophthalmoplegias|Internal Ophthalmoplegia|Internal Ophthalmoplegias|Oculomotor Paralysis|Ophthalmopareses|Ophthalmoparesis|Ophthalmoplegia, External|Ophthalmoplegia, Internal|Ophthalmoplegias|Ophthalmoplegias, External|Ophthalmoplegias, Internal|Paralysis, Oculomotor
C538339|161550||Nasopharyngeal carcinoma|NASOPHARYNGEAL CANCER NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1, INCLUDED|NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2|NPC|NPCA|NPCA1, INCLUDED|NPCA2
D008554||Melioidosis|Melioidoses
D007232||Infant, Newborn, Diseases
D009894||Opportunistic Infections|Infection, Opportunistic|Infections, Opportunistic|Opportunistic Infection
D006849|236600||Hydrocephalus|Aqueductal Stenoses|Aqueductal Stenosis|Cerebral Ventriculomegalies|Cerebral Ventriculomegalies, Fetal|Cerebral Ventriculomegaly|Cerebral Ventriculomegaly, Fetal|Communicating Hydrocephalus|Congenital Hydrocephalus|Fetal Cerebral Ventriculomegalies|Fetal Cerebral Ventriculomegaly|HYC1|Hydrocephalus, Communicating|Hydrocephalus, Congenital|Hydrocephalus Ex Vacuo|Hydrocephalus Ex-Vacuo|Hydrocephalus Ex-Vacuos|HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1|Hydrocephalus, Obstructive|Hydrocephalus, Post-Traumatic|Hydrocephaly|Obstructive Hydrocephalus|Post Traumatic Hydrocephalus|Post-Traumatic Hydrocephalus|Stenoses, Aqueductal|Stenosis, Aqueductal|Ventriculomegalies, Cerebral|Ventriculomegalies, Fetal Cerebral|VENTRICULOMEGALY|Ventriculomegaly, Cerebral|Ventriculomegaly, Fetal Cerebral
D010874||Pinta
125490|D003811||Dentinogenesis Imperfecta|CAPDEPONT TEETH|DENTINOGENESIS IMPERFECTA 1|Dentinogenesis Imperfectas|Dentinogenesis Imperfecta, Shields Type 2|DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II|Dentinogenesis Imperfecta without Osteogenesis Imperfecta|DGI1|DGI-II|Hereditary Opalescent Dentin|Hereditary Opalescent Dentins|Imperfecta, Dentinogenesis|Imperfectas, Dentinogenesis|OPALESCENT DENTIN|Opalescent Dentin, Hereditary|Opalescent Dentins, Hereditary|Opalescent Teeth without Osteogenesis Imperfecta
D010871||Pinealoma|Mixed Pineocytoma Pineoblastoma|Mixed Pineocytoma-Pineoblastoma|Mixed Pineocytoma-Pineoblastomas|Neoplasm, Pineal|Neoplasms, Pineal|Pineal Gland Tumor|Pineal Gland Tumors|Pineal Neoplasm|Pineal Neoplasms|Pinealocytoma|Pinealocytomas|Pinealomas|Pineal Parenchymal Tumor|Pineal Parenchymal Tumors|Pineal Tumor|Pineal Tumors|Pineoblastoma|Pineoblastomas|Pineocytoma|Pineocytoma-Pineoblastoma, Mixed|Pineocytoma-Pineoblastomas, Mixed|Pineocytomas|Tumor, Pineal|Tumor, Pineal Gland|Tumor, Pineal Parenchymal|Tumors, Pineal|Tumors, Pineal Gland|Tumors, Pineal Parenchymal
C563980|605724||Fanconi Anemia, Complementation Group D1|FAD1|FANCD1
C562397||Hymen, Imperforate
D021501||Flank Pain|Flank Pain, Left|Flank Pain, Right|Flank Pains|Flank Pains, Left|Flank Pains, Right|Left Flank Pain|Left Flank Pains|Pain, Flank|Pain, Left Flank|Pain, Right Flank|Pains, Flank|Pains, Left Flank|Pains, Right Flank|Right Flank Pain|Right Flank Pains
C563384|601154||Cardiomyopathy, Dilated, 1E|Cardiomyopathy, Dilated, with Conduction Defect 2|Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia|CDCD2|CMD1E
106100|D054179||Angioedemas, Hereditary|Angioedema, Hereditary|ANGIOEDEMA, HEREDITARY, TYPE I|Angioneurotic Edema, Hereditary|Angioneurotic Edemas, Hereditary|C1 Esterase Inhibitor Deficiency|C1 ESTERASE INHIBITOR, DEFICIENCY OF ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED|C1 Inhibitor Deficiency|Edema, Hereditary Angioneurotic|Edemas, Hereditary Angioneurotic|HAE1|HAE2, INCLUDED|HANE|Hereditary Angioedema|Hereditary Angioedemas|Hereditary Angioneurotic Edema|Hereditary Angioneurotic Edemas
C562398||Madelung Deformity
C562399||Corneal Dystrophy, Band-Shaped|Band Keratopathy
C536101|600462||Myopathy with lactic acidosis and sideroblastic anemia|Mitochondrial myopathy and sideroblastic anemia|MLASA|MLASA1|MLASA2|MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1|MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
D015319|229700||Fructose-1,6-Diphosphatase Deficiency|Deficiencies, Fructose-1,6-Bisphosphatase|Deficiencies, Fructose-1,6-Diphosphatase|Deficiencies, Fructose-Biphosphatase|Deficiencies, Fructosediphosphatase|Deficiencies, Hexosediphosphatase|Deficiency, Fructose-1,6-Bisphosphatase|Deficiency, Fructose-1,6-Diphosphatase|Deficiency, Fructose-Biphosphatase|Deficiency, Fructosediphosphatase|Deficiency, Hexosediphosphatase|Fructose-1,6-Bisphosphatase Deficiencies|Fructose 1,6 Bisphosphatase Deficiency|Fructose-1,6-Bisphosphatase Deficiency|Fructose-1,6-Diphosphatase Deficiencies|Fructose 1,6 Diphosphatase Deficiency|Fructose-Biphosphatase Deficiencies|Fructose Biphosphatase Deficiency|Fructose-Biphosphatase Deficiency|Fructosediphosphatase Deficiencies|Fructosediphosphatase Deficiency|Hexosediphosphatase Deficiencies|Hexosediphosphatase Deficiency
D009855||Onchocerciasis|Onchocerciases
D044225||Piscirickettsiaceae Infections|Piscirickettsiaceae Infection|Piscirickettsioses|Piscirickettsiosis
C537311|606937||Spinocerebellar ataxia, autosomal recessive 5|CAMOS|Cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|SCAR5
D008531||Megacolon|Megacolons
C567381|612255||Inflammatory Bowel Disease 15|IBD15
D010842||Pica|Geophagia
D010845||Obesity Hypoventilation Syndrome|Hypoventilation Syndrome, Obesity|Obesity-Hypoventilation Syndrome|Pickwickian Syndrome|Syndrome, Obesity Hypoventilation|Syndrome, Pickwickian
D058866||Osteoporotic Fractures|Fracture, Osteoporotic|Fractures, Osteoporotic|Osteoporotic Fracture
C536925|609428||Tukel syndrome|CFEOM-U|Congenital extraocular muscle fibrosis with ulnar hand anomalies|Fibrosis Of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies
D037081||Posterior Tibial Tendon Dysfunction|Dysfunction, Tibialis Posterior|Posterior Tibial Tendon Insufficiency|Tibialis Posterior Dysfunction|Tibial Tendon Dysfunction, Posterior
C563900|608586||Keratoconus 3|KTCN3
138800||GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS|EUTHYROID GOITER|GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION|MNG1|MULTINODULAR GOITER, ADOLESCENT|SIMPLE GOITER
C566917|611556||Glycogen Storage Disease 0, Muscle|GSD 0b|GSD0B|Muscle Glycogen Storage Disease 0|Muscle Glycogen Synthase Deficiency
D010859||Pigmentation Disorders|Disease, Schamberg|Disease, Schamberg&apos;s|Disorder, Pigmentation|Disorders, Pigmentation|Incontinentia Pigmenti Achromians|Ito Syndrome|Pigmentation Disorder|Schamberg Disease|Schamberg&apos;s Disease|Schambergs Disease|Syndrome, Ito
D008539||Meigs Syndrome|Meig&apos;s Syndrome|Meigs&apos; Syndrome|Meig Syndrome
D009869||Oophoritis|Oophoritides
D008538||Meige Syndrome|Blepharospasm Oromandibular Dyskinesia|Blepharospasm-Oromandibular Dyskinesia|Blepharospasm-Oromandibular Dyskinesias|Blepharospasm Oromandibular Dystonia|Blepharospasm-Oromandibular Dystonia|Blepharospasm-Oromandibular Dystonias|Blepharospasm Oromandibular Dystonia Syndrome|Blepharospasm-Oromandibular Dystonia Syndrome|Blepharospasm Oromandibular Dystonia Syndrome, Idiopathic|Blepharospasm-Oromandibular Dystonia Syndrome, Idiopathic|Blepharospasm-Oromandibular Dystonia Syndromes|Brueghel Syndrome|Dyskinesia, Blepharospasm-Oromandibular|Dyskinesia, Idiopathic Orofacial|Dyskinesias, Blepharospasm-Oromandibular|Dyskinesias, Idiopathic Orofacial|Dystonia, Blepharospasm-Oromandibular|Dystonias, Blepharospasm-Oromandibular|Dystonia Syndrome, Blepharospasm-Oromandibular|Dystonia Syndromes, Blepharospasm-Oromandibular|Idiopathic Blepharospasm Oromandibular Dystonia Syndrome|Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome|Idiopathic Orofacial Dyskinesia|Idiopathic Orofacial Dyskinesias|Orofacial Dyskinesia, Idiopathic|Orofacial Dyskinesias, Idiopathic|Syndrome, Blepharospasm-Oromandibular Dystonia
145750|D006953||Hyperlipoproteinemia Type IV|Carbohydrate Inducible Hyperlipemia|Carbohydrate-Inducible Hyperlipemia|Carbohydrate Inducible Hyperlipemias|Carbohydrate-Inducible Hyperlipemias|Familial Hyperlipoproteinemia Type 4|Familial Hypertriglyceridemia|Familial Type IV Hyperlipoproteinemia|Hyperlipemia, Carbohydrate Inducible|Hyperlipemia, Carbohydrate-Inducible|Hyperlipemias, Carbohydrate Inducible|Hyperlipemias, Carbohydrate-Inducible|Hyperlipoproteinemias, Type IV|Hyperlipoproteinemia, Type IV|Hyperprebetalipoproteinemia|Hyper prebeta lipoproteinemia|Hypertriglyceridemia, Familial|Inducible Hyperlipemia, Carbohydrate|Inducible Hyperlipemias, Carbohydrate|Type IV Hyperlipoproteinemia|Type IV, Hyperlipoproteinemia|Type IV Hyperlipoproteinemias
D008532||Megacolon, Toxic|Toxic Megacolon
D010850||Picornaviridae Infections|Infection, Picornaviridae|Infection, Picornavirus|Infections, Picornaviridae|Infections, Picornavirus|Picornaviridae Infection|Picornavirus Infection|Picornavirus Infections
C548086||Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
C564688|606640||Amyotrophic Lateral Sclerosis 3|ALS3
D010854||Piedra|Black Piedra|Black Piedras|Piedra, Black|Piedras|Piedras, Black|Piedras, White|Piedra, White|White Piedra|White Piedras
C536832|610015||Glutamine deficiency, congenital|Glutamine synthase deficiency, congenital systemic|Glutamine synthetase deficiency, congenital systemic
D008556|155900||Melkersson-Rosenthal Syndrome|Cheilitis Granulomatosa|Cheilitis Granulomatosa, Facial Neuropathy, Orofacial Edema|Cheilitis Granulomatosa, Orofacial Edema, Facial Neuropathy|Cheilitis, Miescher-Melkersson-Rosenthal Granulomatous|Facial Neuropathy, Cheilitis Granulomatosa, Orofacial Edema|Facial Neuropathy, Orofacial Edema, Cheilitis Granulomatosa|Granulomatous Cheilitis|Granulomatous Cheilitis, Miescher-Melkersson-Rosenthal|Macrocheilia, Facial Palsy, Edema|Melkerson Rosenthal Syndrome|Melkerson-Rosenthal Syndrome|Melkersson Rosenthal Miescher Syndrome|Melkersson-Rosenthal-Miescher Syndrome|Melkersson Rosenthal Syndrome|Melkersson Syndrome|Miescher Melkersson Rosenthal Granulomatous Cheilitis|Miescher-Melkersson-Rosenthal Granulomatous Cheilitis|MROS|MRS|Orofacial Edema, Cheilitis Granulomatosa, Facial Neuropathy|Orofacial Edema, Facial Neuropathy, Cheilitis Granulomatosa|Rosenthal Melkerson Syndrome|Rosenthal-Melkerson Syndrome|Rosenthal Melkersson Syndrome|Rosenthal-Melkersson Syndrome|Syndrome, Melkerson Rosenthal
606711||SPECIFIC LANGUAGE IMPAIRMENT 1|SLI1|SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16
D034801||Mastocytoma|Benign Mastocytoma|Extracutaneous Mastocytoma|Extracutaneous Mastocytomas|Mastocytoma, Benign|Mastocytoma, Extracutaneous|Mastocytomas, Extracutaneous
C548085||Progressive Transformation of Germinal Centers
606712||SPECIFIC LANGUAGE IMPAIRMENT 2|SLI2|SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19
C567548|612858||Orofacial Cleft 12|Cleft Lip with or without Cleft Palate, Nonsyndromic, 12|OFC12
C562378||Hepatic Fibrosis, Congenital
C562379||Dermatosis Papulosa Nigra
D009839||Oligomenorrhea|Oligomenorrheas
C562377||Glutamate Monosodium Sensitivity|Chinese Restaurant Syndrome
D009837||Oligodendroglioma|Adult Oligodendroglioma|Adult Oligodendrogliomas|Anaplastic Oligodendroglioma|Anaplastic Oligodendrogliomas|Childhood Oligodendroglioma|Childhood Oligodendrogliomas|Mixed Oligodendroglioma Astrocytoma|Mixed Oligodendroglioma-Astrocytoma|Mixed Oligodendroglioma-Astrocytomas|Mixed Oligodendroglioma Ependymoma|Mixed Oligodendroglioma-Ependymoma|Mixed Oligodendroglioma-Ependymomas|Oligodendroblastoma|Oligodendroblastomas|Oligodendroglioma, Adult|Oligodendroglioma, Anaplastic|Oligodendroglioma-Astrocytoma, Mixed|Oligodendroglioma-Astrocytomas, Mixed|Oligodendroglioma, Childhood|Oligodendroglioma-Ependymoma, Mixed|Oligodendroglioma-Ependymomas, Mixed|Oligodendrogliomas|Oligodendrogliomas, Adult|Oligodendrogliomas, Anaplastic|Oligodendrogliomas, Childhood|Oligodendrogliomas, Well-Differentiated|Oligodendroglioma, Well Differentiated|Oligodendroglioma, Well-Differentiated|Well Differentiated Oligodendroglioma|Well-Differentiated Oligodendroglioma|Well-Differentiated Oligodendrogliomas
C565287|605818||Deafness, Autosomal Recessive 27|DFNB27
D056929|177200||Liddle Syndrome|Pseudoaldosteronism|Syndrome, Liddle
C566505|609621||Short QT Syndrome 2|SQT2
211400|C567618||Bronchiectasis With Or Without Elevated Sweat Chloride 1|BESC1|CYSTIC FIBROSIS-LIKE SYNDROME
C557819||Orofaciodigital syndrome 5|Oral-facial-digital syndrome 5|Oral-Facial-Digital Syndrome, Type V|Orofaciodigital syndrome, Thurston type|Orofaciodigital syndrome V|Polydactyly, Postaxial, With Median Cleft Of Upper Lip|Thurston syndrome
C557818||Orofaciodigital syndrome 9|OFD9|OFDS IX|Oral-facial-digital syndrome 9|Oral Facial Digital Syndrome, Type IX|Oral-facial-digital syndrome with retinal abnormalities|Orofaciodigital syndrome IX|Orofaciodigital Syndrome, Type 9|Orofaciodigital syndrome with retinal abnormalities
C557817||Orofaciodigital syndrome 3|Brachydactyly of the hands and feet with duplication of the first toes|Brachydactyly with major proximal phalangeal shortening|OFDS III|Oral-facial-digital syndrome 3|Oral-Facial-Digital Syndrome, Type III|Orofaciodigital syndrome III|Sugarman brachydactyly|Sugarman syndrome
C557815||Deficiency of interleukin-1 receptor antagonist|Deficiency Of Interleukin 1 Receptor Antagonist|Interleukin 1 receptor antagonist deficiency
C567642|613327||Lipodystrophy, Congenital Generalized, Type 4|Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy|CGL4|Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy
D037061||Metatarsalgia
C562384||Branchial Cleft Anomalies
D009849||Olivopontocerebellar Atrophies|Ataxia, Presenile|Ataxias, Presenile|Atrophy, Familial Olivopontocerebellar|Atrophy, Idiopathic Olivopontocerebellar|Atrophy, Inherited Olivopontocerebellar|Atrophy, Nonfamilial Olivopontocerebellar|Atrophy, Olivopontocerebellar|Atrophy, Olivo-Ponto-Cerebellar|Atrophy, Pontoolivocerebellar|Degeneration, Olivopontocerebellar|Degeneration, Olivo-Ponto-Cerebellar|Degenerations, Olivopontocerebellar|Degenerations, Olivo-Ponto-Cerebellar|Dejerine Thomas Syndrome|Dejerine-Thomas Syndrome|Familial Olivopontocerebellar Atrophies|Familial Olivopontocerebellar Atrophy|Idiopathic Olivopontocerebellar Atrophies|Idiopathic Olivopontocerebellar Atrophy|Inherited Olivopontocerebellar Atrophies|Inherited Olivopontocerebellar Atrophy|Nonfamilial Olivopontocerebellar Atrophies|Nonfamilial Olivopontocerebellar Atrophy|Olivopontocerebellar Atrophies, Familial|Olivopontocerebellar Atrophies, Idiopathic|Olivopontocerebellar Atrophies, Inherited|Olivopontocerebellar Atrophies, Nonfamilial|Olivopontocerebellar Atrophy|Olivo Ponto Cerebellar Atrophy|Olivo-Ponto-Cerebellar Atrophy|Olivopontocerebellar Atrophy, Familial|Olivopontocerebellar Atrophy, Idiopathic|Olivopontocerebellar Atrophy, Inherited|Olivopontocerebellar Atrophy, Nonfamilial|Olivopontocerebellar Degeneration|Olivo Ponto Cerebellar Degeneration|Olivo-Ponto-Cerebellar Degeneration|Olivopontocerebellar Degenerations|Olivo-Ponto-Cerebellar Degenerations|Pontoolivocerebellar Atrophies|Pontoolivocerebellar Atrophy|Presenile Ataxia|Presenile Ataxias|Syndrome, Dejerine-Thomas
C562388||Bicuspid Aortic Valve|Aortic Valve, Bicuspid
C565447|245349||Pyruvate Dehydrogenase E3-Binding Protein Deficiency|Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex|PDHXD
D009846||Oliguria|Oligurias
D009845||Oligospermia|Count, Low Sperm|Counts, Low Sperm|Hypospermatogenesis|Low Sperm Count|Low Sperm Counts|Oligozoospermia|Sperm Count, Low|Sperm Counts, Low
C562875|609814||Complement Factor H Deficiency|CFHD|CFH Deficiency|Factor H Deficiency
613118|D020152||Antithrombin III Deficiency|Antithrombin 3 Deficiencies|Antithrombin 3 Deficiency|Antithrombin III Deficiencies|AT3D|Congenital Antithrombin III Deficiency|Deficiencies, Antithrombin 3|Deficiencies, Antithrombin III|Deficiency, Antithrombin 3|Deficiency, Antithrombin III|Hereditary Antithrombin Deficiency|THPH7|THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
C566353|603629||Deafness, Autosomal Recessive 21|DFNB21
D058890||Granulomatous Mastitis|Mastitis, Granulomatous
C565293|605803||Dermatitis, Atopic, 2|ATOD2
C566512|609578||Cardiomyopathy, Familial Restrictive, 2|RCM2
606002|C537308||Spinocerebellar ataxia, autosomal recessive 1|AOA2|Ataxia-ocular apraxia 2|Ataxia-oculomotor apraxia 2|Ataxia with Oculomotor Apraxia|SCAN2|SCAR1|Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1|Spinocerebellar Ataxia with Axonal Neuropathy Type 2
C562393||Melanoma, Cutaneous Malignant|Dysplastic Nevus Syndrome, Hereditary|Familial Atypical Mole-Malignant Melanoma Syndrome|Fammm|Melanoma, Familial
C562390||Humoral Hypercalcemia Of Malignancy
C562391||Ovarian Fibromata
C537396||Neuropathy ataxia and retinis pigmentosa|NARP syndrome|Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa|Neuropathy, Ataxia, and Retinitis Pigmentos|Neuropathy, Ataxia, And Retinitis Pigmentosa|Neuropathy, Ataxia, Retinitis Pigmentosa syndrome
C563682||Oculootofacial Dysplasia
C537395||Neuronal intranuclear inclusion disease
C536064||Osteosclerosis with ichthyosis and premature ovarian failure|Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure
C536069||Human spumaretrovirus infection|Human spumaretroviridae infection
C537398||Pili torti developmental delay neurological abnormalities|Pili torti and developmental delay
C536067||Hordnes Engebretsen Knudtson syndrome
C537399||Pili torti onychodysplasia|Twisted hair with nail dysplasias
C536068||Hoyeraal Hreidarsson syndrome|Cerebellar hypoplasia with pancytopenia|Hoyeraal-Hreidarsson Syndrome
D009814||Oesophagostomiasis|Oesophagostomiases
D001098||Spider Bites|Arachnidism|Arachnidism, Necrotic|Bite, Spider|Bites, Spider|Necrotic Arachnidism|Spider Bite
C537392||Neurofibromatosis, type 4, of Riccardi|Neurofibromatosis, atypical|Neurofibromatosis, Type Iv, Of Riccardi|Neurofibromatosis, variant form(s) of
C536061||Osteopoikilosis and dacryocystitis|Dacryocystitis osteopoikilosis|Gunal Seber Basaran syndrome
D009810||Odontoma|Ameloblastic Fibro-odontoma|Ameloblastic Fibro-odontomas|Compound Odontoma|Compound Odontomas|Fibroodontoma|Fibro Odontoma|Fibro-Odontoma|Fibro odontoma, Ameloblastic|Fibro-odontoma, Ameloblastic|Fibroodontomas|Fibro-Odontomas|Fibro-odontomas, Ameloblastic|Odontoma, Compound|Odontomas|Odontomas, Compound
C536062||Hernandez Fragoso syndrome|Osteoporosis and Oculocutaneous Hypopigmentation Syndrome|Osteoporosis oculocutaneous hypopigmentation syndrome
C537390||Neurofibromatosis type 5|Neurofibromatosis type V|Segmental neurofibromatosis
D006053|141400||Goldenhar Syndrome|Craniofacial Microsomia|Craniofacial Microsomias|Disease, Goldenhar|Dysostoses, Otomandibular|Dysostosis, Otomandibular|Dysplasia, Facioauriculovertebral|Dysplasia, Lateral Facial|Dysplasia, Oculoauriculovertebral|Dysplasias, Facioauriculovertebral|Dysplasias, Lateral Facial|Dysplasias, Oculoauriculovertebral|Facial Dysplasia, Lateral|Facial Dysplasias, Lateral|Facioauriculovertebral Dysplasia|Facioauriculovertebral Dysplasias|Facioauriculovertebral Sequence|Facioauriculovertebral Sequences|FAV SEQUENCE|First and Second Branchial Arch Syndrome|First and Second Pharyngeal Arch Syndromes|Goldenhar Disease|Goldenhar Gorlin Syndrome|Goldenhar-Gorlin Syndrome|Goldenhar-Gorlin Syndromes|GOLDENHAR SYNDROME|Goldenhar Syndrome with Ipsilateral Radial Defect|Hemifacial Microsomia|Hemifacial Microsomia with Radial Defects|HFM|Lateral Facial Dysplasia|Lateral Facial Dysplasias|Microsomia, Craniofacial|Microsomia Hemifacial Radial Defects|Microsomias, Craniofacial|Moeschler Clarren Syndrome|OAV DYSPLASIA|OAVS|OAVS with Radial Defect|Oculoauriculovertebral Dysplasia|Oculoauriculovertebral Dysplasias|Oculoauriculovertebral Spectrum|Oculoauriculovertebral Spectrums|Oculoauriculovertebral Spectrum with Radial Defect|Oculoauriculovertebral Syndrome|Oral Mandibular Auricular Syndrome|Oral-Mandibular-Auricular Syndrome|Oral-Mandibular-Auricular Syndromes|Otomandibular Dysostoses|Otomandibular Dysostosis|Syndrome, Goldenhar|Syndrome, Goldenhar-Gorlin|Syndrome, Moeschler Clarren|Syndrome, Oculoauriculovertebral|Syndrome, Oral-Mandibular-Auricular|Syndromes, Goldenhar-Gorlin|Syndromes, Oral-Mandibular-Auricular
C537391||Neurofibromatosis, familial intestinal|Neurofibromatosis 3B
C536060||Whyte Murphy Fallon Sly syndrome
203290|C537731||Oculocutaneous albinism type 3|Albinism 3|ALBINISM III|Albinism, oculocutaneous, type 3|ALBINISM, OCULOCUTANEOUS, TYPE III|OCA3|OCULOCUTANEOUS ALBINISM, TYPE III|ROCA|RUFOUS OCULOCUTANEOUS ALBINISM|XANTHISM
270300|C564818||Peeling Skin Syndrome|Deciduous Skin|Keratolysis Exfoliativa Congenita|PEELING SKIN SYNDROME, TYPE B|PSS|Skin Peeling, Familial Continuous Generalized
C536077||Hydroa vacciniforme, familial|Familial hydroa vacciniforme
C536074||Hutterite cerebroosteonephrodysplasia syndrome|Cerebroosteonephrosis syndrome|Congenital shortness with mild spondylorhizomelic dwarfism
C567489|270970||Spherocytosis, Type 3|HS3|SPH3|Spherocytosis, Hereditary, 3
C563698||Mitochondrial DNA Depletion Syndrome, Myopathic Form|Mitochondrial DNA Depletion Myopathy, Autosomal Recessive
114900|C562842||Carcinoid Tumors, Intestinal
611126|C567006||Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of|ACAD9 DEFICIENCY|MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
C536079||Hydrolethalus syndrome
C536072||Hunter-McAlpine syndrome|Hunter-McAlpine craniosynostosis|Hunter-McAlpine craniosynostosis syndrome
C536071||Hunter Carpenter Macdonald syndrome
C573012||Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency|Dihydrolipoamide Dehydrogenase Deficiency|DLD Deficiency|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to|Maple Syrup Urine Disease, Type III
D025064||Sex Chromosome Disorders|Chromosome Disorder, Sex|Chromosome Disorders, Sex|Disorders, Sex Chromosome|Disorders, Sex Chromosome Abnormality|Sex Chromosome Abnormality Disorders|Sex Chromosome Disorder
D025063||Chromosome Disorders|Autosomal Chromosome Disorder|Autosomal Chromosome Disorders|Chromosomal Disorder|Chromosomal Disorders|Chromosome Abnormality Disorder|Chromosome Abnormality Disorders|Chromosome Disorder|Chromosome Disorder, Autosomal|Chromosome Disorders, Autosomal|Disorder, Chromosomal|Disorder, Chromosome|Disorder, Chromosome Abnormality|Disorders, Chromosomal|Disorders, Chromosome
D013088||Spermatocele|Cyst, Epididymal|Cysts, Epididymal|Epididymal Cyst|Epididymal Cysts|Spermatoceles
D013086||Spermatic Cord Torsion|Spermatic Cord Torsions|Testicular Torsion|Testicular Torsions|Torsion Of Testicular Cord|Torsion, Spermatic Cord|Torsions, Spermatic Cord|Torsions, Testicular|Torsion, Testicular
C536087||Ichthyosis hystrix gravior|Ichthyosis, Lambert Type|Lambert type ichthyosis|Porcupine man
D014390||Tuberculosis, Meningeal|Hypertrophic Pachymeningitides, Tuberculous|Hypertrophic Pachymeningitis, Tuberculous|Meningeal Tuberculoses|Meningeal Tuberculosis|Meningitides, Tubercular|Meningitides, Tuberculosis|Meningitides, Tuberculous|Meningitis, Tubercular|Meningitis, Tuberculosis|Meningitis, Tuberculous|Pachymeningitides, Tuberculous Hypertrophic|Pachymeningitis, Tuberculous Hypertrophic|TB Meningitides|TB Meningitis|Tubercular Meningitides|Tubercular Meningitis|Tuberculoses, Meningeal|Tuberculosis Meningitides|Tuberculosis Meningitis|Tuberculous Hypertrophic Pachymeningitides|Tuberculous Hypertrophic Pachymeningitis|Tuberculous Meningitides|Tuberculous Meningitis
C564991||Gamma-A-Globulin, Defect in Assembly of|IgA, Defect in Assembly of|Immunoglobulin A, Defect in Assembly of
C563136|309541||Mental Retardation, X-Linked 3|MENTAL RETARDATION, X-LINKED 3|METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE|MRX3
C564990||Gastric Sneezing|Stomach Sneeze Reflex
D014394||Tuberculosis, Osteoarticular|Bone Tuberculoses|Bone Tuberculosis|Joint Tuberculoses|Joint Tuberculosis|Osteoarticular Tuberculoses|Osteoarticular Tuberculosis|Tuberculoses, Bone|Tuberculoses, Joint|Tuberculoses, Osteoarticular|Tuberculosis, Bone|Tuberculosis, Joint
D014393||Tuberculosis, Oral|Oral Tuberculoses|Oral Tuberculosis|Tuberculoses, Oral
C563664||Epiphyseal Dysplasia, Baumann Type
D014392||Tuberculosis, Ocular|Ocular Tuberculoses|Ocular Tuberculosis|Tuberculoses, Ocular
D014391||Tuberculosis, Miliary|Miliary Tuberculoses|Miliary Tuberculosis|Tuberculoses, Miliary
C564999||Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
C566432|610582||Diabetes Mellitus, Transient Neonatal, 3|TNDM3 DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED
C536083||Hypercholesterolemia due to arg3500 mutation of Apo B-100|Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
C536084||Ichthyosis cheek eyebrow syndrome|Ichthyosis-Cheek-Eyebrow Syndrome|Sidransky Feinstein Goodman syndrome
C567407|612158||Cardiomyopathy, Dilated, 1AA|CMD1AA
D001079||Apudoma|Apudomas
C536082||Hypercalciuria, childhood idiopathic|Childhood idiopathic hypercalciuria
C548076||Pseudohypoparathyroidism Type 1C|Php1c|Php Ic|Pseudohypoparathyroidism, Type Ic
D056266||Erythrokeratodermia Variabilis|Erythro et Keratodermia Variabilis|Erythrokeratodermia Figurata Variabili|Erythrokeratodermia Figurata Variabilis|Erythrokeratodermia Variabili|Figurata Variabilis, Erythrokeratodermia|Greither Disease|Mendes De Costa Syndrome|Transgrediens et Progrediens Palmoplantar Keratoderma|Variabili, Erythrokeratodermia|Variabilis, Erythrokeratodermia|Variabilis, Erythrokeratodermia Figurata
C548075||Pseudohypoparathyroidism Type 1B
C567485|300123||Mental Retardation, X-Linked, With Panhypopituitarism|INCLUDED|MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,|MRGH, INCLUDED
D056267||Pagetoid Reticulosis|Disease, Ketron-Goodman|Disease, Woringer Kolopp|Disease, Woringer-Kolopp|Ketron Goodman Disease|Ketron-Goodman Disease|Kolopp Disease, Woringer|Pagetoid Reticuloses|Reticuloses, Pagetoid|Reticulosis, Pagetoid|Woringer Kolopp Disease|Woringer-Kolopp Disease
C548077||Pseudohypoparathyroidism Type 2|Php2|Php Ii|Pseudohypoparathyroidism, Type Ii
C576976||Hypothyroidism, Congenital, Nongoitrous, 1|Hypothyroidism, Congenital, Due To Tsh Resistance|Hypothyroidism Due To Unresponsiveness To Thyrotropin|Hypothyroidism, Nonautoimmune|Thyroid-Stimulating Hormone, Resistance To
604169||LEFT VENTRICULAR NONCOMPACTION 1|LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS|LVNC1
D014387||Tuberculosis, Laryngeal|Laryngeal Tuberculoses|Laryngeal Tuberculosis|Larynx Tuberculoses|Larynx Tuberculosis|Tuberculoses, Laryngeal|Tuberculosis of Larynx
C536162|148700||Keratosis palmoplantaris striata 1|Keratoderma, palmoplantar striate form 1|Keratoderma, Palmoplantar, Striate Form I|Keratosis Palmoplantaris Striata I|KPPS1|PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE|PPKS1|SPPK1|Striate palmoplantar keratoderma 1|Striate Palmoplantar Keratoderma I
D014386||Tuberculosis, Hepatic|Hepatic Tuberculoses|Hepatic Tuberculosis|Tuberculoses, Hepatic
D014385||Tuberculosis, Gastrointestinal|Gastrointestinal Tuberculosis
C548070||Pontocerebellar Hypoplasia Type 2
D014384||Tuberculosis, Female Genital|Female Genital Tuberculoses|Female Genital Tuberculosis|Genital Tuberculoses, Female|Genital Tuberculosis, Female|Tuberculoses, Female Genital
C548071||Megarbane Jalkh Syndrome|Developmental Delay, Dysmorphic Features, Neonatal Spontaneous Fractures, Wrinkled Skin, And Hepatic Failure|Megarbane-Jalkh Syndrome
D014389||Tuberculosis, Male Genital|Genital Tuberculoses, Male|Genital Tuberculosis, Male|Male Genital Tuberculoses|Male Genital Tuberculosis|Tuberculoses, Male Genital
D014388||Tuberculosis, Lymph Node|Cervical Lymphadenitis, Mycobacterial|Cervical Tuberculous Lymphadenitis|Lymphadenitis, Cervical Tuberculous|Lymphadenitis, Mycobacterial Cervical|Lymphadenitis, Tuberculous|Lymph Node Tuberculoses|Lymph Node Tuberculosis|Mycobacterial Cervical Lymphadenitis|Scrofula|Scrofulas|Tuberculoses, Lymph Node|Tuberculous Lymphadenitis|Tuberculous Lymphadenitis, Cervical
C536291|609529||Immunoglobulin a deficiency 2|IGAD2|Iga, selective deficiency of, taci-related|Immunoglobulin a, selective deficiency of, taci-related
C536099||Myokymia with neonatal epilepsy|BFNC/Myokymia syndrome|Convulsions, benign familial neonatal with Myokymia|Epilepsy, benign neonatal, with Myokymia
C563670||Aneurysm, Intracranial Berry, 5
D009808||Odontogenic Tumors|Dental Tissue Neoplasm|Dental Tissue Neoplasms|Neoplasm, Dental Tissue|Neoplasms, Dental Tissue|Odontogenic Tumor|Tissue Neoplasm, Dental|Tissue Neoplasms, Dental|Tumor, Odontogenic|Tumors, Odontogenic
D009807||Odontogenic Cysts|Cyst, Odontogenic|Cysts, Odontogenic|Keratocyst|Keratocysts|Odontogenic Cyst
C563674||Macular Degeneration, Age-Related, 6
D039682||HIV-Associated Lipodystrophy Syndrome|HIV Associated Lipodystrophy|HIV-Associated Lipodystrophy|HIV Associated Lipodystrophy Syndrome|HIV Lipodystrophy Syndrome|Lipodystrophy, HIV-Associated|Lipodystrophy Syndrome, HIV|Lipodystrophy Syndrome, HIV-Associated
C536090||Myasthenic syndrome, congenital, type Id|Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, Postsynaptic, Associated With Acetylcholine Receptor Deficiency
C537723|300260||Lubs X-linked mental retardation syndrome|MECP2 Duplication Syndrome|Mental retardation, X-linked, Lubs type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE|Mental Retardation, X-Linked, With Recurrent Respiratory Infections|MRXSL|Trisomy Xq28|XLMR syndrome, Lubs type
C537907|146255||Barakat syndrome|BARAKAT SYNDROME|HDR|HDRS|HDR syndrome|Hypoparathyroidism, Sensorineural Deafness, And Renal Disease|HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME|Nephrosis, nerve deafness, and hypoparathyroidism
C536094||Myeloid splenomegaly|Idiopathic myeloid splenomegaly
186500||MULTIPLE SYNOSTOSES SYNDROME 1|DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN|FACIOAUDIOSYMPHALANGISM SYNDROME|SYMPHALANGISM-BRACHYDACTYLY SYNDROME|SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY|SYNS1|WL SYNDROME
C536092||Mycobacterium tuberculosis, susceptibility to infection by
103470|C537043||Albinism ocular late onset sensorineural deafness|Albinism, Ocular, With Late-Onset Sensorineural Deafness|Albinism, Ocular, With Sensorineural Deafness|Deafness and ocular albinism|OASD|Ocular albinism with sensorineural deafness|WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE|Waardenburg Syndrome, Type Ii, With Ocular Albinism, Autosomal Recessive|Ws2-Oa
C538336|302350||Nance-Horan syndrome|Cataract-Dental Syndrome|Cataract, X-linked, with Hutchinsonian Teeth|Mesiodens-Cataract Syndrome|NHS
C564605|607221||Epilepsy, Partial, with Pericentral Spikes|EPPS|PEPS
D014398||Tuberculosis, Renal|Renal Tuberculoses|Renal Tuberculosis|Tuberculoses, Renal
D014397||Tuberculosis, Pulmonary|Consumption, Pulmonary|Consumptions, Pulmonary|Phthises, Pulmonary|Phthisis, Pulmonary|Pulmonary Consumption|Pulmonary Consumptions|Pulmonary Phthises|Pulmonary Phthisis|Pulmonary Tuberculoses|Pulmonary Tuberculosis|Tuberculoses, Pulmonary
D013064||Speech Disorders|Aprosodia|Aprosodias|Aprosodic Speech|Cluttering|Clutterings|Dysglossia|Dysglossias|Dyslalia|Dyslalias|Rhinolalia|Rhinolalias|Speech, Aprosodic|Verbal Fluency Disorder|Verbal Fluency Disorders
D014396||Tuberculosis, Pleural|Pleural Tuberculoses|Pleural Tuberculosis|Pleurisies, Tuberculous|Pleurisy, Tuberculous|Tuberculoses, Pleural|Tuberculous Pleurisies|Tuberculous Pleurisy
D014395||Peritonitis, Tuberculous|Peritoneal Tuberculosis|Tuberculosis, Peritoneal|Tuberculous Peritonitis
D014399||Tuberculosis, Spinal|Disease, Pott|Disease, Pott&apos;s|Pott Disease|Pott&apos;s Disease|Potts Disease|Pott&apos;s Paraplegia|Spinal Tuberculoses|Spinal Tuberculosis|Tuberculoses, Spinal
C564971||Myopathy with Giant Abnormal Mitochondria
C563640||Lactic Acidosis, Chronic Adult Form
C536021||Achromatopsia 1|Rod monochromacy|Rod monochromatism
D005910|137800||Glioma|ASTROCYTOMA, INCLUDED|EPENDYMOMA, INCLUDED|GBM, INCLUDED|Glial Cell Tumor|Glial Cell Tumors|GLIOBLASTOMA MULTIFORME, INCLUDED|Glioma, Malignant|Glioma, Mixed|GLIOMA OF BRAIN, FAMILIAL, INCLUDED|Gliomas|Gliomas, Malignant|Gliomas, Mixed|GLIOMA SUSCEPTIBILITY 1|GLIOMA SUSCEPTIBILITY 2|GLIOMA SUSCEPTIBILITY 3|GLIOMA SUSCEPTIBILITY 4|GLIOMA SUSCEPTIBILITY 5|GLIOMA SUSCEPTIBILITY 6|GLIOMA SUSCEPTIBILITY 8|GLM1|GLM2|GLM3|GLM4|GLM5|GLM6|GLM8|GLM, INCLUDED|Malignant Glioma|Malignant Gliomas|Mixed Glioma|Mixed Gliomas|OLIGODENDROGLIOMA, INCLUDED|SUBEPENDYMOMA, INCLUDED|Tumor, Glial Cell|Tumors, Glial Cell
C537353||Metaphyseal chondrodysplasia Spahr type|Metaphyseal Chondrodysplasia, Spahr Type|Spahr type Metaphyseal chondrodysplasia
C536022||Marles Greenberg Persaud syndrome|Manitoba Oculotrichoanal Syndrome|Manitoba Trichoanal syndrome|Marles-Greenberg-Persaud Syndrome|Marles syndrome
C537350||Metaphyseal acroscyphodysplasia|Wedge-shaped epiphyses of knees
C538682||Hyperkeratosis of the palms and soles and esophageal papillomas|Early onset tylosis (type B)|Familial tylosis|FNEPPK|Focal non epidermolytic palmoplantar keratoderma|Focal Nonepidermolytic Palmoplantar Keratoderma|Focal Non-Epidermolytic Palmoplantar Keratoderma|Focal Palmoplantar Keratoderma|Keratoderma, Focal Nonepidermolytic Palmoplantar|Late onset tylosis (type A)|Palmoplantar Keratoderma, Nonepidermolytic, Focal
C537351||Metaphyseal anadysplasia|Early-onset regressive form of metaphyseal dysplasia
C536020||Achondroplasia and Swiss type agammaglobulinemia|Agammaglobulinaemia and achondroplasia
C564974||Myopathy, Granulovacuolar Lobular, with Electrical Myotonia
C536026||Marshall-Smith syndrome
C564973||Myopathy due to Malate-Aspartate Shuttle Defect
C537354||Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands|Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly
C536023||Maroteaux Fonfria syndrome|Apert syndrome with polydactyly of hands and feet|Apparent Apert syndrome with polydactyly
C563641||Lactate Dehydrogenase B Deficiency
C537355||Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
C536024||Marsden syndrome|Dystonia, familial, with visual failure and striatal lucencies|Leber Hereditary Optic Neuropathy With Dystonia
C564979||Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors
D002388||Catastrophic Illness|Catastrophic Illnesses|Illness, Catastrophic|Illnesses, Catastrophic
C548006||Atrial Septal Defect Ostium Primum
300582|C564479||Short Stature, Idiopathic, X-Linked|ISS
C564977||Myeloproliferative Disease, Autosomal Recessive
C563646||Keratosis Palmaris et Plantaris with Clinodactyly
D002389||Catatonia|Catatonia, Lethal|Catatonia, Malignant|Catatonia, Organic|Catatonias|Catatonia, Schizophreniform|Catatonias, Lethal|Catatonias, Malignant|Catatonias, Organic|Catatonias, Schizophreniform|Catatonic Disorder, Organic|Catatonic Disorders, Organic|Lethal Catatonia|Lethal Catatonias|Malignant Catatonia|Malignant Catatonias|Organic Catatonia|Organic Catatonias|Organic Catatonic Disorder|Organic Catatonic Disorders|Schizophreniform Catatonia|Schizophreniform Catatonias
C548009||Atrial Septal Defect Sinus Venosus
C564976||Epilepsy, Progressive Myoclonic 2B
D002385||Cataplexy|Attack, Cataleptic|Attacks, Cataleptic|Cataleptic Attack|Cataleptic Attacks|Henneberg Syndrome|Status Cataplexicus|Syndrome, Henneberg|Syndromes, Tonelessness|Syndrome, Tonelessness|Tonelessness Syndrome|Tonelessness Syndromes
D002386||Cataract|Cataract, Membranous|Cataracts|Cataracts, Membranous|Lens Opacities|Lens Opacity|Membranous Cataract|Membranous Cataracts|Opacities, Lens|Opacity, Lens|Pseudoaphakia|Pseudoaphakias
C548012||Diploid-Triploid Mosaicism
D040701||Stress Disorders, Traumatic, Acute|Acute Stress Disorder|Acute Stress Disorders|Stress Disorder, Acute|Stress Disorders, Acute
C548011||Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)
C548014||Gestational Diabetes Insipidus
C548013||Dipsogenic Diabetes Insipidus
C548016||Hypermanganesemia with Dystonia Polycythemia and Cirrhosis|Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease|Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia|Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia|Hmdpc|Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis|Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
C537349||Mesomelic dwarfism Reinhardt Pfeiffer type|Hypoplasia of Ulna and Fibula|Mesomelic dwarfism of hypoplastic ulna and fibula type|Reinhardt-Pfeiffer mesomelic dysplasia|Reinhardt-Pfeiffer mesomelic skeletal dysplasia|Reinhardt Pfeiffer syndrome|Ulna And Fibula, Hypoplasia Of
C536018||Achondrogenesis, type 3|Type 3 Achondrogenesis
C536019||Achondrogenesis, type 4|Type 4 Achondrogenesis
605479||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2|BRIC2
C537347||Mesenteric vascular disease|Acute mesenteric ischemia|Chronic mesenteric ischemia|Mesenteric artery ischemia
D013031||Sparganosis|Sparganoses
C538679||Transient antero-apical dyskinesia
C538678||Lymphedema of the lower extremities, recurrent pneumonia, bronchiectasis, and yellowed nails
D013035||Spasm|Ciliary Body Spasm|Ciliary Body Spasms|Generalized Spasm|Generalized Spasms|Muscle Spasm|Muscle Spasms|Muscular Spasm|Muscular Spasms|Spasm, Ciliary Body|Spasm, Generalized|Spasm, Muscle|Spasm, Muscular|Spasms|Spasms, Ciliary Body|Spasms, Generalized|Spasms, Muscle|Spasms, Muscular
162900|C562736||Nevus, Epidermal|Nevus, Keratinocytic, Nonepidermolytic|NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS, INCLUDED|PIGMENTED MOLES
D013036||Spasms, Infantile|Attack, Lightning|Attacks, Lightning|Attacks, Salaam|Cryptogenic Infantile Spasm|Cryptogenic Infantile Spasms|Cryptogenic West Syndrome|Hypsarrhythmia|Hypsarrhythmias|Infantile Spasm|Infantile Spasm, Cryptogenic|Infantile Spasms|Infantile Spasms, Cryptogenic|Infantile Spasms, Symptomatic|Infantile Spasm, Symptomatic|Jackknife Seizure|Jackknife Seizures|Lightning Attack|Lightning Attacks|Nodding Spasm|Nodding Spasms|Salaam Attacks|Salaam Seizures|Seizure, Jackknife|Seizures, Jackknife|Seizures, Salaam|Spasm, Cryptogenic Infantile|Spasm, Nodding|Spasms, Cryptogenic Infantile|Spasms, Nodding|Spasms, Symptomatic Infantile|Spasm, Symptomatic Infantile|Spasmus Nutans|Symptomatic Infantile Spasm|Symptomatic Infantile Spasms|Symptomatic West Syndrome|Syndrome, Cryptogenic West|Syndrome, Symptomatic West|Syndrome, West|West Syndrome|West Syndrome, Cryptogenic|West Syndrome, Symptomatic
253270|D028922||Holocarboxylase Synthetase Deficiency|Carboxylase Deficiency, Multiple, Neonatal Form|Deficiencies, HLCS|Deficiencies, Holocarboxylase Synthetase|Deficiency, HLCS|Deficiency, Holocarboxylase Synthetase|Deficiency, Multiple Carboxylase, Neonatal Form|Early Onset Biotin Responsive Multiple Carboxylase Deficiency|Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency|Early Onset Combined Carboxylase Deficiency|Early-Onset Combined Carboxylase Deficiency|HLCS Deficiencies|HLCS Deficiency|Holocarboxylase Synthetase Deficiencies|Infantile Multiple Carboxylase Deficiency|Multiple Carboxylase Deficiency, Early Onset|Multiple Carboxylase Deficiency, Neonatal Form
C564982||Muscular Hypertonia, Lethal
C563651||Kallmann Syndrome 2 with Cleft Lip or Palate
C537363||Ichthyosiform erythroderma, corneal involvement, deafness|Desmons syndrome|Ichthyosiform Erythroderma, Corneal Involvement, And Deafness|Keratitis-ichthyosis-deafness syndrome, autosomal recessive|Kid Syndrome, Autosomal Recessive
C536032||Mastocytic enterocolitis
C563650||Keratitis Fugax Hereditaria|Keratoendotheliitis Fugax Hereditaria
C537364||Jagell Holmgren Hofer syndrome|Ichthyosis alopecia eclabion ectropion mental retardation|Ichthyosis With Alopecia, Eclabion, Ectropion, And Mental Retardation
C536033||Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
C564980||Musk, Inability to Smell
C537362||Immunodeficiency syndrome, variable|Centromeric instability, immunodeficiency syndrome|Immunodeficiency-centromeric instability-facial anomalies syndrome
C536031||Massa Casaer Ceulemans syndrome|Arthrogryposis multiplex congenita associated with lissencephaly
C537367||Mucolipidosis type 3 A
C536036||Maxillonasal dysplasia, Binder type|Binder syndrome
D014383||Tuberculosis, Endocrine|Endocrine Tuberculoses|Endocrine Tuberculosis|Tuberculoses, Endocrine
C564985||Muscular Dystrophy, Congenital, Producing Arthrogryposis
D014382||Tuberculosis, Cutaneous|Cutaneous Tuberculoses|Cutaneous Tuberculosis|Scrofuloderma|Scrofulodermas|Skin Tuberculoses|Skin Tuberculosis|Tuberculid|Tuberculids|Tuberculoses, Cutaneous|Tuberculoses, Skin|Tuberculosis, Skin
C563653||Kallikrein, Decreased Urinary Activity of
D014381||Tuberculosis, Cardiovascular|Cardiovascular Tuberculoses|Cardiovascular Tuberculosis|Tuberculoses, Cardiovascular
C564983||Muscular Dystrophy, Congenital, with Rapid Progression
C563652||Kallmann Syndrome 2 with Bimanual Synkinesia
C536035||Maternally Inherited Leigh Syndrome|Leigh disease, maternally inherited|Subacute necrotizing encephalomyelopathy maternally inherited
D014380||Tuberculosis, Bovine|Bovine Tuberculoses|Bovine Tuberculosis|Tuberculoses, Bovine
C564989||Gastric Volvulus, Intrathoracic
C563658||Polyosteolysis-Hyperostosis Syndrome
D001064||Appendicitis|Appendicitis, Perforated|Appendicitis, Ruptured|Perforated Appendicitis|Ruptured Appendicitis
D001063||Appendiceal Neoplasms|Appendiceal Cancer|Appendiceal Neoplasm|Appendix Cancer|Cancer, Appendiceal|Cancer, Appendix|Cancer of Appendix|Cancer of the Appendix|Neoplasm, Appendiceal|Neoplasms, Appendiceal
D001068||Eating Disorders|Appetite Disorder|Appetite Disorders|Eating Disorder
182250|C537343||Singleton Merten syndrome|Merten-Singleton syndrome|Singleton-Merten Syndrome
D001072||Apraxias|1, Speech-Language Disorder|1s, Speech-Language Disorder|Apraxia|Apraxia, Articulatory|Apraxia, Developmental Verbal|Apraxia, Dressing|Apraxia, Facial Oral|Apraxia, Facial-Oral|Apraxia, Gestural|Apraxia, Ideational|Apraxia, Motor|Apraxia of Phonation|Apraxia, Oral|Apraxias, Articulatory|Apraxias, Developmental Verbal|Apraxias, Dressing|Apraxias, Facial-Oral|Apraxias, Gestural|Apraxias, Ideational|Apraxias, Motor|Apraxias, Oral|Apraxias, Verbal|Apraxia, Verbal|Articulatory Apraxia|Articulatory Apraxias|Articulatory Dyspraxia|Articulatory Dyspraxias|Developmental Verbal Apraxia|Developmental Verbal Apraxias|Developmental Verbal Dyspraxia|Developmental Verbal Dyspraxias|Disorder 1, Speech-Language|Disorder 1s, Speech-Language|Dressing Apraxia|Dressing Apraxias|Dyspraxia|Dyspraxia, Articulatory|Dyspraxia, Developmental Verbal|Dyspraxia, Oral|Dyspraxias|Dyspraxias, Articulatory|Dyspraxias, Developmental Verbal|Dyspraxias, Oral|Dyspraxias, Verbal|Dyspraxia, Verbal|Facial-Oral Apraxia|Facial-Oral Apraxias|Gestural Apraxia|Gestural Apraxias|Ideational Apraxia|Ideational Apraxias|Motor Apraxia|Motor Apraxias|Oral Apraxia|Oral Apraxias|Oral Dyspraxia|Oral Dyspraxias|Phonation Apraxia|Phonation Apraxias|Speech And Language Disorder With Orofacial Dyspraxia|Speech Language Disorder 1|Speech-Language Disorder 1|Speech-Language Disorder 1s|Verbal Apraxia|Verbal Apraxia, Developmental|Verbal Apraxias|Verbal Apraxias, Developmental|Verbal Dyspraxia|Verbal Dyspraxia, Developmental|Verbal Dyspraxias|Verbal Dyspraxias, Developmental
D014376||Tuberculosis|Disease, Kochs|Disease, Koch&apos;s|Koch Disease|Koch&apos;s Disease|Kochs Disease|Tuberculoses
D014375||Tuberculoma|Tuberculomas
C537358||Methylmalonic acidemia|Acidemia, methylmalonic|Isolated Methylmalonic Acidemia|Methylmalonic Aciduria
C536027||Martinez Monasterio Pinheiro syndrome|Cleft lip/palate-oligodontia-syndactyly-hair alterations
D014379||Tuberculosis, Avian|Avian Tuberculoses|Avian Tuberculosis|Tuberculoses, Avian
C567436|612016||Spinocerebellar Ataxia, Autosomal Recessive 9|Cerebellar Ataxia, Autosomal Recessive, Type 2|COENZYME Q10 DEFICIENCY, PRIMARY, 4|COQ10D4|SCAR9|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
C537374||Multifocal choroiditis
C536043||Osteogenesis imperfecta, type 2B|Osteogenesis imperfecta, perinatal lethal, autosomal recessive|Osteogenesis Imperfecta, Type IIB
C537375||Multifocal fibrosclerosis|Fibrosclerosis, Multifocal|Mediastinal fibrosis, familial|Retroperitoneal fibrosis, familial
C563719|609446||Generalized Epilepsy and Paroxysmal Dyskinesia|Epilepsy, Generalized, with Paroxysmal Dyskinesia|GEPD
D001039||Aphasia, Broca|Agrammatism|Anterior Aphasia|Anterior Aphasias|Aphasia, Anterior|Aphasia, Ataxic|Aphasia, Expressive|Aphasia, Frontocortical|Aphasia, Motor|Aphasia, Nonfluent|Aphasias, Anterior|Aphasias, Ataxic|Aphasias, Broca|Aphasias, Frontocortical|Aphasia Syndromes, Verbal|Aphasia Syndrome, Verbal|Ataxic Aphasia|Ataxic Aphasias|Broca Aphasia|Broca Aphasias|Broca Dysphasia|Broca&apos;s Dysphasia|Dysphasia, Broca|Dysphasia, Brocas|Dysphasia, Broca&apos;s|Expressive Aphasia|Frontocortical Aphasia|Frontocortical Aphasias|Motor Aphasia|Nonfluent Aphasia|Syndromes, Verbal Aphasia|Syndrome, Verbal Aphasia|Verbal Aphasia Syndrome|Verbal Aphasia Syndromes
C537372||Multi-centric Castleman&apos;s Disease|HHV-8-Associated Multicentric Castleman Disease|HHV8 Multicentric Castleman Disease|Idiopathic multicentric Castleman&apos;s disease|KSHV-Associated Multicentric Castleman Disease|KSHV Muticentric Castleman Disease|Multicentric Castleman&apos;s disease|Multicentric plasma cell variant of Castleman&apos;s disease|Plasmablastic multicentric Castleman disease
C536041||Osteogenesis imperfecta, type 1A|Osteogenesis imperfecta, type 1, with dentinogenesis imperfecta|Osteogenesis Imperfecta, Type I, with Dentinogenesis Imperfecta|Osteogenesis imperfecta with opalescent teeth
C535627|140000||Hand foot uterus syndrome|Hand foot genital syndrome|Hand-Foot-Genital Syndrome|Hand-Foot-Uterus Syndrome|HFG|HFG Syndrome|HFU|HFU Syndrome
C536047||Osteogenesis imperfecta, type 6
C563621||Lip, Hamartomatous|Enlargement of Lower Lip
C563620||Lipoma of the Conjunctiva
C563626||Leukocyte Nuclear Appendages, Hereditary Prevalence of
C548029||Karak Syndrome
D020371|169500||Pelizaeus-Merzbacher Disease|ADLD|Adult Pelizaeus Merzbacher Disease|Adult Pelizaeus-Merzbacher Disease|Atypical Pelizaeus Merzbacher Disease|Atypical Pelizaeus-Merzbacher Disease|Classic Pelizaeus Merzbacher Disease|Classic Pelizaeus-Merzbacher Disease|Cockayne Pelizaeus Merzbacher Disease|Cockayne-Pelizaeus-Merzbacher Disease|HLD1|LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT|Leukodystrophy, Hypomyelinating, 1|Pelizaeus Merzbacher Disease|Pelizaeus Merzbacher Disease, Adult|Pelizaeus-Merzbacher Disease, Adult|Pelizaeus Merzbacher Disease, Atypical|Pelizaeus-Merzbacher Disease, Atypical|PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE, FORMERLY|Pelizaeus Merzbacher Disease, Classic|Pelizaeus-Merzbacher Disease, Classic|Pelizaeus Merzbacher Disease, Transitional|Pelizaeus-Merzbacher Disease, Transitional|Pelizaeus-Merzbacher Sclerosis; Brain|PMD|Sclerosis; Brain, Pelizaeus Merzbacher|Sclerosis; Brain, Pelizaeus-Merzbacher|Transitional Pelizaeus Merzbacher Disease|Transitional Pelizaeus-Merzbacher Disease
C563625||Levator-Medial Rectus Synkinesis|Oculomotor-Levator Synkinesis
C548028||Inherited Peripheral Neuropathy
C564955||Sialidosis, Type I
C563624||Lichen Planus, Familial
C564954||Neurologic Disease, Infantile Multisystem, with Osseous Fragility
D003699||Hepatitis D|Amazon Black Fever|Black Fever, Amazon|Delta Hepatitis|Delta Infection|Delta Superinfection|Delta Superinfections|Disease, Labrea|Diseases, Labrea|Fever, Amazon Black|Hepatitides, Delta|Hepatitis, Delta|Infection, Delta|Infections, Delta|Labrea Disease|Labrea Diseases|Superinfection, Delta|Superinfections, Delta
D001037||Aphasia|Acquired Aphasia|Ageusic Aphasia|Ageusic Aphasias|Alogia|Alogias|Anepia|Anepias|Aphasia, Acquired|Aphasia, Ageusic|Aphasia, Auditory Discriminatory|Aphasia, Commisural|Aphasia, Functional|Aphasia, Global|Aphasia, Graphomotor|Aphasia, Intellectual|Aphasia, Mixed|Aphasia, Post Ictal|Aphasia, Post-Ictal|Aphasia, Post Traumatic|Aphasia, Post-Traumatic|Aphasia, Progressive|Aphasias, Ageusic|Aphasias, Auditory Discriminatory|Aphasias, Commisural|Aphasia, Semantic|Aphasias, Functional|Aphasias, Global|Aphasias, Graphomotor|Aphasias, Intellectual|Aphasias, Mixed|Aphasias, Post-Ictal|Aphasias, Post-Traumatic|Aphasias, Progressive|Aphasias, Semantic|Aphasias, Syntactical|Aphasia, Syntactical|Auditory Discriminatory Aphasia|Auditory Discriminatory Aphasias|Commisural Aphasia|Commisural Aphasias|Dejerine Lichtheim Phenomenon|Dejerine-Lichtheim Phenomenon|Discriminatory Aphasia, Auditory|Discriminatory Aphasias, Auditory|Dysphasia|Dysphasia, Global|Dysphasias, Global|Functional Aphasia|Functional Aphasias|Global Aphasia|Global Aphasias|Global Dysphasia|Global Dysphasias|Graphomotor Aphasia|Graphomotor Aphasias|Intellectual Aphasia|Intellectual Aphasias|Lichtheim Sign|Lichtheim&apos;s Sign|Lichtheims Sign|Logagnosia|Logagnosias|Logamnesia|Logamnesias|Logasthenia|Logasthenias|Mixed Aphasia|Mixed Aphasias|Phenomenon, Dejerine-Lichtheim|Post-Ictal Aphasia|Post-Ictal Aphasias|Post-Traumatic Aphasia|Post-Traumatic Aphasias|Progressive Aphasia|Progressive Aphasias|Semantic Aphasia|Semantic Aphasias|Sign, Lichtheim&apos;s|Syntactical Aphasia|Syntactical Aphasias
C537370||Muller Barth Menger syndrome|Cerebral malformation, seizures, hypertrichosis, and overlapping fingers
D001036||Aphakia, Postcataract|Aphakias, Postcataract|Postcataract Aphakia|Postcataract Aphakias
C537371||Mullerian aplasia|Congenital absence of uterus and vagina|Klippel-Feil deformity, conductive deafness, and absent vagina|Mayer Rokitansky Kuster Hauser syndrome|Mayer-Rokitansky-Kuster-Hauser Syndrome|Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II|MRK anomaly|MRKH anomaly|MRKH Syndrome|MRKH, Type II|Mullerian Aplasia/Dysgenesis|Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies|Mullerian duct failure|MURCS association|RKH syndrome|Rokitansky Kuster Hauser syndrome|Rokitansky sequence|Uterus bipartitus solidus rudimentarius cum vagina solida|Von Mayer Rokitansky Kuster anomaly|Von Mayer-Rokitansky-Kuster Anomaly
D003693||Delirium|Delirium of Mixed Origin|Deliriums, Subacute|Delirium, Subacute|Mixed Origin Delirium|Mixed Origin Deliriums|Subacute Delirium|Subacute Deliriums
D001035||Aphakia|Aphakias
C548031||Knobloch Syndrome Type III|Knobloch Syndrome, Type III
C567202|612690||Spherocytosis, Type 5|HS5|SPH5|Spherocytosis, Hereditary, 5
C564251|608371||Orofacial Cleft 4|Cleft Lip with or without Cleft Palate, Nonsyndromic, 4|OFC4
C548034||Orofaciodigital Syndrome 12
D002371||Cat Diseases|Cat Disease|Disease, Cat|Disease, Feline|Diseases, Cat|Diseases, Feline|Feline Disease|Feline Diseases
C548035||Orofaciodigital Syndrome 13
612520|C567286||Diabetes Mellitus, Insulin-Dependent, 20|IDDM20
D015674||Mammary Neoplasms, Animal|Animal Mammary Carcinoma|Animal Mammary Carcinomas|Animal Mammary Neoplasm|Animal Mammary Neoplasms|Carcinoma, Animal Mammary|Carcinomas, Animal Mammary|Mammary Carcinoma, Animal|Mammary Carcinomas, Animal|Mammary Neoplasm|Mammary Neoplasm, Animal|Mammary Neoplasms|Neoplasm, Animal Mammary|Neoplasm, Mammary|Neoplasms, Animal Mammary|Neoplasms, Mammary
C580199||Inherited Thyroxine-Binding Globulin Deficiency|Tbg Deficiency
D015673||Fatigue Syndrome, Chronic|Chronic Fatigue and Immune Dysfunction Syndrome|Chronic Fatigue Disorder|Chronic Fatigue Disorders|Chronic Fatigue Fibromyalgia Syndrome|Chronic Fatigue-Fibromyalgia Syndrome|Chronic Fatigue-Fibromyalgia Syndromes|Chronic Fatigue Syndrome|Chronic Fatigue Syndromes|Disorders, Chronic Fatigue|Encephalomyelitis, Myalgic|Fatigue Disorder, Chronic|Fatigue Disorders, Chronic|Fatigue-Fibromyalgia Syndrome, Chronic|Fatigue-Fibromyalgia Syndromes, Chronic|Fatigue Syndrome, Postviral|Fatigue Syndromes, Chronic|Fatigue Syndromes, Postviral|Infectious Mononucleosis Like Syndrome, Chronic|Infectious Mononucleosis-Like Syndrome, Chronic|Myalgic Encephalomyelitis|Postviral Fatigue Syndrome|Postviral Fatigue Syndromes|Royal Free Disease|Syndrome, Chronic Fatigue-Fibromyalgia|Syndromes, Chronic Fatigue-Fibromyalgia|Syndromes, Postviral Fatigue
C536039||Osteogenesis imperfecta, Levin type|Gnathodiaphyseal Dysplasia|Gnathodiaphyseal Sclerosis|Levin syndrome 2|Osteogenesis imperfecta with unusual skeletal lesions
174500||POLYDACTYLY, PREAXIAL II|POLYDACTYLY OF TRIPHALANGEAL THUMB|PPD2|TPT, INCLUDED|TPT-PS SYNDROME, INCLUDED|TRIPHALANGEAL THUMB, INCLUDED|TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED|TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, INCLUDED
C580192||Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome|Ipex Syndrome
C548030||Knobloch Syndrome Type II|Knobloch Syndrome, Type II
C537385||Muscular dystrophy, congenital, infantile with cataract and hypogonadism|Familial congenital muscular dystrophy with gonadal dysgenesis|Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism
C536054||Whyte Murphy syndrome|Osteopathia striata associated with familial dermopathy and white forelock
C537386||Neuroaxonal dystrophy renal tubular acidosis|Maccario Mena Weir syndrome
C536055||Osteopetrosis and infantile neuroaxonal dystrophy|Infantile osteopetrosis and neuronal storage disease|Prenatal axonal dystrophy and osteopetrosis
C536052||Osteolysis syndrome recessive|Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|Osteolysis Syndrome, Recessive
D001049||Apnea|Apneas
C564964||Leigh Syndrome due to Mitochondrial Complex V Deficiency
C563633||Lattice Degeneration of Retina Leading to Retinal Detachment
C537389||Neurofibromatosis, Type 3, mixed central and peripheral|Neurofibromas, Palmar Cutaneous|Neurofibromatosis, Type 3, Riccardi type|Neurofibromatosis, Type III, Mixed Central and Peripheral|Neurofibromatosis, Type III, of Riccardi|Neurofibromatosis, Type III, Riccardi Type
C564963||Leigh Syndrome due to Mitochondrial Complex IV Deficiency
C563632||Leg Ulcers, Familial, of Juvenile Onset
C536059||Osteopetrosis, mild autosomal recessive form|Mild autosomal recessive form of osteopetrosis|Osteopetrosis, Autosomal Recessive 2|Osteopetrosis, Osteoclast-Poor
C564962||Leigh Syndrome due to Mitochondrial Complex III Deficiency
C537387||Neurocutaneous melanosis|Melanosis, neurocutaneous|Neurocutaneous melanosis syndrome
304150|C537860||Occipital horn syndrome|Cutis laxa X-linked|Cutis Laxa, X-Linked|CUTIS LAXA, X-LINKED, FORMERLY|EDS9, FORMERLY|EDS IX, FORMERLY|Ehlers-Danlos syndrome, occipital horn type (formerly)|EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY|OHS
C564961||Leigh Syndrome Due To Mitochondrial Complex II Deficiency
C563630||Lentiginosis, Centrofacial Neurodysraphic|Lentiginosis, Touraine Type
C537388||Neurofaciodigitorenal syndrome|Freire-Maia Pinheiro Opitz syndrome
C536057||Osteopetrosis lethal|Autosomal malignant osteopetrosis|Lethal osteopetrosis
C563637||Larynx, Congenital Partial Atresia of
D001044||Aphonia|Absence of Voice|Aphonia, Functional|Aphonia, Nonorganic|Aphonia Paralytica|Aphonias, Functional|Aphonias, Nonorganic|Aphonia, Spastic|Aphonias, Spastic|Functional Aphonia|Functional Aphonias|Nonorganic Aphonia|Nonorganic Aphonias|Paralytica, Aphonia|Spastic Aphonia|Spastic Aphonias|Voice Absence|Voice Absences
C564967||Myotonia with Skeletal Abnormalities and Mental Retardation
C563636||Laryngeal Web, Familial|Glottic Web, Congenital Anterior
C563634||Tooth Agenesis, Selective, 4|Lateral Incisors, Absence of|Lateral Incisors, Pegged or Missing|STHAG4|Succedaneous Teeth, Agenesis Of
D001041||Aphasia, Wernicke|Aphasia, Fluent|Aphasia, Jargon|Aphasia, Posterior|Aphasia, Psychosensory|Aphasia, Receptive|Aphasia, Sensory|Aphasias, Jargon|Aphasias, Posterior|Aphasias, Psychosensory|Aphasias, Wernicke|Aphasia, Wernicke&apos;s Fluent|Dysphasia, Fluent|Dysphasia, Receptive|Dysphasia, Sensory|Dysphasias, Fluent|Dysphasias, Receptive|Dysphasias, Sensory|Dysphasia, Wernicke|Dysphasia, Wernickes|Dysphasia, Wernicke&apos;s|Fluent Aphasia|Fluent Aphasia, Wernicke|Fluent Aphasia, Wernickes|Fluent Aphasia, Wernicke&apos;s|Fluent Dysphasia|Fluent Dysphasias|Jargon Aphasia|Jargon Aphasias|Posterior Aphasia|Posterior Aphasias|Psychosensory Aphasia|Psychosensory Aphasias|Receptive Aphasia|Receptive Dysphasia|Receptive Dysphasias|Sensory Aphasia|Sensory Dysphasia|Sensory Dysphasias|Wernicke Aphasia|Wernicke Aphasias|Wernicke Dysphasia|Wernicke&apos;s Dysphasia|Wernicke&apos;s Fluent Aphasia
C537381||Multiple system atrophy (MSA) with orthostatic hypotension
D002372||Cat-Scratch Disease|Catscratch Disease|Cat Scratch Disease|Disease, Catscratch|Disease, Cat-Scratch|Inoculation Lymphoreticuloses|Inoculation Lymphoreticulosis|Inoculative Lymphoreticuloses|Inoculative Lymphoreticulosis|Lymphoreticuloses, Inoculation|Lymphoreticuloses, Inoculative|Lymphoreticulosis, Inoculation|Lymphoreticulosis, Inoculative
C536968|602124||Torsion dystonia 7|Dystonia 7, Torsion|DYT7|Primary adult-onset torsion dystonia|Torsion dystonia, focal adult-onset|TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY, INCLUDED
173900|D007690||Polycystic Kidney Diseases|APKD, INCLUDED|Disease, Polycystic Kidney|Disease, Polycystic Renal|Diseases, Polycystic Kidney|Diseases, Polycystic Renal|Kidney Disease, Polycystic|Kidney Diseases, Polycystic|Kidney, Polycystic|Kidneys, Polycystic|PKD1|Polycystic Kidney|Polycystic Kidney Disease|POLYCYSTIC KIDNEY DISEASE 1|POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I;APKD1 POLYCYSTIC KIDNEY DISEASE, ADULT, INCLUDED|Polycystic Kidneys|Polycystic Renal Disease|Polycystic Renal Diseases|POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, INCLUDED|Renal Disease, Polycystic|Renal Diseases, Polycystic
C563639||Cutis Laxa-Marfanoid Syndrome|Neonatal Cutis Laxa With Marfanoid Phenotype
D002375||Catalepsy|Anochlesia|Anochlesias|Catalepsies|Cerea Flexibilitas|Flexibilitas, Cerea|Flexibilities, Waxy|Flexibility, Waxy|Waxy Flexibilities|Waxy Flexibility
C567060|313500||Tooth Agenesis, Selective, X-Linked, 1|Hypodontia-Oligodontia, X-Linked, 1|HYPODONTIA/OLIGODONTIA, X-LINKED, 1|STHAGX1
306400|C564417||Granulomatous Disease, Chronic, X-Linked|CGD|Chronic Granulomatous Disease, Atypical|CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED|Chronic Granulomatous Disease, X-Linked|CHRONIC GRANULOMATOUS DISEASE, X-LINKED CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED|Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked|Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked|Granulomatous Disease, Chronic, X-Linked, Variant|GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT, INCLUDED
C565325|605526||Alzheimer Disease 6|AD6|Alzheimer Disease 6, Late-Onset|ALZHEIMER DISEASE 6, LATE-ONSET PLASMA BETA-AMYLOID-42 LEVEL QUANTITATIVE TRAIT LOCUS, INCLUDED
606771||ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3|ADIPQTL3|CAQ14|CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14
C548027||Idiopathic Juxtafoveal Retinal Telangiectasia
606770||ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2|ADIPQTL2|CAQ5|CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5
D056735|601859||Autoimmune Lymphoproliferative Syndrome|ALPS|ALPS1A, INCLUDED|ALPS1B, INCLUDED|ALPS2B|Autoimmune Lymphoproliferative Syndromes|Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant|Autoimmune Lymphoproliferative Syndrome Type 2B|Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)|Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE, INCLUDED|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, INCLUDED|Autoimmune Lymphoproliferative Syndrome, Type Iib|Canale Smith Syndrome|Canale-Smith Syndrome|Canale-Smith Syndromes|Caspase 8 Deficiencies|Caspase-8 Deficiencies|Caspase 8 Deficiency|Caspase-8 Deficiency|CEDS|Deficiencies, Caspase 8|Deficiencies, Caspase-8|Deficiency, Caspase 8|Deficiency, Caspase-8|Lymphoproliferative Syndrome, Autoimmune|Lymphoproliferative Syndromes, Autoimmune|Syndrome, Autoimmune Lymphoproliferative|Syndrome, Canale Smith|Syndrome, Canale-Smith|Syndromes, Autoimmune Lymphoproliferative|Syndromes, Canale-Smith
D014354||Trypanosomiasis, Bovine|Bovine Trypanosomiases|Bovine Trypanosomiasis|Trypanosomiases, Bovine
D014353||Trypanosomiasis, African|African Sleeping Sickness|African Sleeping Sicknesses|African Trypanosomiases|African Trypanosomiasis|Nagana|Sickness, African Sleeping|Sicknesses, African Sleeping|Sleeping Sickness, African|Sleeping Sicknesses, African|Trypanosomiases, African
D014352||Trypanosomiasis|Trypanosomiases
D014355||Chagas Disease|American Trypanosomiasis|Chagas&apos; Disease|Disease, Chagas|Disease, Chagas&apos;|South American Trypanosomiasis|Trypanosomiasis, American|Trypanosomiasis, South American
D001139||Arnold-Chiari Malformation|Arnold Chiari Deformity|Arnold-Chiari Deformity|Arnold Chiari Malformation|Arnold Chiari Malformation, Type 1|Arnold-Chiari Malformation, Type 1|Arnold Chiari Malformation, Type 2|Arnold-Chiari Malformation, Type 2|Arnold Chiari Malformation, Type 3|Arnold-Chiari Malformation, Type 3|Arnold Chiari Malformation, Type 4|Arnold-Chiari Malformation, Type 4|Arnold Chiari Malformation, Type I|Arnold-Chiari Malformation, Type I|Arnold Chiari Malformation, Type II|Arnold-Chiari Malformation, Type II|Arnold Chiari Malformation, Type III|Arnold-Chiari Malformation, Type III|Arnold Chiari Malformation, Type IV|Arnold-Chiari Malformation, Type IV|Arnold Chiari Syndrome|Arnold-Chiari Syndrome|Chiari Malformation Type I|Deformity, Arnold-Chiari|Malformation, Arnold Chiari|Malformation, Arnold-Chiari|Syndrome, Arnold-Chiari|Type I Arnold Chiari Malformation|Type I Arnold-Chiari Malformation|Type II Arnold Chiari Malformation|Type II Arnold-Chiari Malformation|Type III Arnold Chiari Malformation|Type III Arnold-Chiari Malformation|Type IV Arnold Chiari Malformation|Type IV Arnold-Chiari Malformation
C537430||Arima syndrome|Cerebro-oculo-hepato-renal syndrome|Chorioretinal coloboma with cerebellar vermis aplasia|Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia|Dekaban Arima syndrome|Dekaban-Arima Syndrome|Joubert syndrome with bilateral chorioretinal coloboma
C566869|163500||Night Blindness, Congenital Stationary, Autosomal Dominant 2|CSNBAD2|Night Blindness, Congenital Stationary, Rambusch Type
C536102||Myopathy, congenital nonprogressive with Moebius and Robin sequences|Carey Fineman Ziter syndrome|Carey-Fineman-Ziter Syndrome|Congenital nonprogressive myopathy with Moebius and Robin sequence|Moebius sequence, Robin complex, and hypotonia|Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence
C536103||Myopathy, desmin storage|Cardiomyopathy due to desmin defect|Desmin storage myopathy|Myopathy with sarcoplasmic bodies and intermediate filaments
C537431||Arnold Stickler Bourne syndrome|Corneal crystals myopathy and nephropathy
C536100||Myopathic carnitine deficiency|Carnitine Deficiency, Myopathic
C563725||Preeclampsia Eclampsia 3
C563724||Preeclampsia Eclampsia 4
C567480|300696||Myopathy, X-Linked, With Postural Muscle Atrophy|EDMD6, INCLUDED|EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED|Xmpma
C563885|608652||Deafness, Autosomal Dominant 47|DFNA47
D001134||Arm Injuries|Arm Injury|Injuries, Arm|Injury, Arm
C563726||Preeclampsia Eclampsia 2
217700|C536439||Corneal endothelial dystrophy type 2|CHED2|CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA|Congenital hereditary endothelial dystrophy of the cornea|Corneal dystrophy, congenital hereditary endothelial|Corneal Endothelial Dystrophy 2|CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE|Maumenee corneal dystrophy
D013118||Spinal Cord Diseases|Myelopathies|Myelopathy|Spinal Cord Disease|Spinal Cord Disorder|Spinal Cord Disorders
D013119||Spinal Cord Injuries|Contusion, Spinal Cord|Contusions, Spinal Cord|Cord Contusion, Spinal|Cord Contusions, Spinal|Cord Injuries, Spinal|Cord Injury, Spinal|Cord Laceration, Spinal|Cord Lacerations, Spinal|Cord Transection, Spinal|Cord Transections, Spinal|Cord Trauma, Spinal|Cord Traumas, Spinal|Injuries, Spinal Cord|Injury, Spinal Cord|Laceration, Spinal Cord|Lacerations, Spinal Cord|Myelopathies, Post-Traumatic|Myelopathies, Traumatic|Myelopathy, Post-Traumatic|Myelopathy, Traumatic|Post-Traumatic Myelopathies|Post Traumatic Myelopathy|Post-Traumatic Myelopathy|Spinal Cord Contusion|Spinal Cord Contusions|Spinal Cord Injury|Spinal Cord Laceration|Spinal Cord Lacerations|Spinal Cord Transection|Spinal Cord Transections|Spinal Cord Trauma|Spinal Cord Traumas|Transection, Spinal Cord|Transections, Spinal Cord|Trauma, Spinal Cord|Traumas, Spinal Cord|Traumatic Myelopathies|Traumatic Myelopathy
D013117||Spinal Cord Compression|Compression, Spinal Cord|Compressions, Spinal Cord|Compressive Myelopathy|Conus Medullaris Syndrome|Conus Medullaris Syndromes|Extramedullary Spinal Cord Compression|Myelopathy, Compressive|Spinal Cord Compression, Extramedullary|Spinal Cord Compressions|Syndrome, Conus Medullaris|Syndromes, Conus Medullaris
C563327|601386||Deafness, Autosomal Recessive 12|DFNB12
C537426||Arakawa syndrome 2|Arakawa&apos;s syndrome 2|Methionine synthase deficiency|N5-methylhomocysteine transferase deficiency|Tetrahydrofolate-methyltransferase deficiency syndrome
C537427||AREDYLD Syndrome|Acral renal ectodermal dysplasia lipoatrophic diabetes|Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes|AREDYLD
C537424||Arachnodactyly ataxia cataract aminoaciduria mental retardation
D010381|169400||Pelger-Huet Anomaly|Anomaly, Pelger-Huet|Anomaly, Pelger-Hu&#235;t|Anomaly, Pelger-Huet Nuclear|Anomaly, Pelger-Hu&#235;t Nuclear|Anomaly, Pseudo Pelger-Huet|Anomaly, Pseudo Pelger-Hu&#235;t|Nuclear Anomaly, Pelger-Huet|Nuclear Anomaly, Pelger-Hu&#235;t|Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities|Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities|Pelger Huet Anomaly|Pelger Hu&#235;t Anomaly|Pelger-Hu&#235;t Anomaly|Pelger-Huet Anomaly, Pseudo|Pelger-Hu&#235;t Anomaly, Pseudo|Pelger Huet Nuclear Anomaly|Pelger-Huet Nuclear Anomaly|Pelger Hu&#235;t Nuclear Anomaly|Pelger-Hu&#235;t Nuclear Anomaly|PHA|Pseudo Pelger Huet Anomaly|Pseudo Pelger-Huet Anomaly|Pseudo Pelger Hu&#235;t Anomaly|Pseudo Pelger-Hu&#235;t Anomaly|Pseudo Pelger Huet Nuclear Anomaly|Pseudo Pelger-Huet Nuclear Anomaly
D015776||Keratoderma, Palmoplantar, Diffuse|Keratosis Palmaris et Plantaris Familiaris|Syndrome, Thost-Unna|Syndrome, Unna-Thost|Thost Unna Syndrome|Thost-Unna Syndrome|Tylosis|Unna Thost Syndrome|Unna-Thost Syndrome
C537428||Arena syndrome|Spastic paraplegia with iron deposits in basal ganglia
D015775||Fractures, Stress|Fatigue Fracture|Fatigue Fractures|Fracture, Fatigue|Fracture, Insufficiency|Fracture, March|Fractures, Fatigue|Fractures, Insufficiency|Fractures, March|Fracture, Stress|Insufficiency Fracture|Insufficiency Fractures|March Fracture|March Fractures|Stress Fracture|Stress Fractures
C537429||Arhinia, choanal atresia, and microphthalmia|Bosma arhinia microphthalmia syndrome
C537441||Arthrogryposis and ectodermal dysplasia|Alves syndrome|Arthrogryposis ectodermal dysplasia other anomalies|Cote Adamopoulos Pantelakis syndrome|TODV syndrome|Trichooculodermovertebral syndrome
C536110||Nablus mask-like facial syndrome
C562400||Hyperpigmentation of Eyelids
C537444||Mental retardation Mietens Weber type|Mental retardation syndrome, Mietens Weber type|Mental Retardation Syndrome, Mietens-Weber Type|Mietens-Weber syndrome
C536113||Nevo syndrome|Cerebral gigantism nevo type
C563731||Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
164200|C563160||Oculodentodigital Dysplasia|Oculo-Dento-Digital Dysplasia|Oculodentodigital Syndrome|Oculodentoosseous Dysplasia|Oculo-Dento-Osseous Dysplasia|ODDD|ODD Syndrome|ODOD|Osseous-Oculo-Dental Dysplasia
C562401||Pseudopapilledema
C537445||Mental retardation Smith Fineman Myers type|Smith Fineman Myers syndrome
D009634|163950||Noonan Syndrome|Familial Turner Syndrome|Female Pseudo Turner Syndrome|Female Pseudo-Turner Syndrome|Male Turner&apos;s Syndrome|Male Turner Syndrome|Noonan Ehmke Syndrome|Noonan-Ehmke Syndrome|NOONAN SYNDROME|Noonan Syndrome 1|NS1|Pseudo-Turner Syndrome, Female|Pseudo Ullrich Turner Syndrome|Pseudo-Ullrich-Turner Syndrome|Syndrome, Familial Turner|Syndrome, Female Pseudo-Turner|Syndrome, Male Turner|Syndrome, Male Turner&apos;s|Syndrome, Noonan|Syndrome, Noonan-Ehmke|Syndrome, Pseudo-Ullrich-Turner|Syndrome, Turner-Like|Syndrome, Ullrich-Noonan|Turner Like Syndrome|Turner-Like Syndrome|Turner Phenotype with Normal Karyotype|TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME, INCLUDED|Turner&apos;s Phenotype, Karyotype Normal|Turner&apos;s Syndrome, Male|Turner Syndrome, Familial|Turner Syndrome, Male|Ullrich Noonan Syndrome|Ullrich-Noonan Syndrome
C537442||Arthrogryposis epileptic seizures migrational brain disorder|Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder
C536111||Partial agenesis of corpus callosum
C536112||Partial atrioventricular canal|Partial atrioventricular septal defects|Partial common atrioventricular canal
C563736||Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia
C562404||Pulmonary Arteriovenous Fistulas
C563735||Epiphyseal Dysplasia, Multiple, with Miniepiphyses
C563734||Chromosome 18 Pericentric Inversion
D010981|185050||Platelet Storage Pool Deficiency|Acquired Storage Pool Disease|Deficiencies, Storage Pool|Deficiency, Platelet Storage Pool|Deficiency, Storage Pool|Familial Platelet Storage Pool Disease|Platelet Storage Pool Deficiencies|Platelet Storage Pool Disease|Storage Pool Deficiencies|Storage Pool Deficiency|Storage Pool Deficiency, Platelet|Storage Pool Platelet Disease
C562408||Radioulnar Synostosis
D002471||Cell Transformation, Neoplastic|Cell Neoplastic Transformation|Cell Neoplastic Transformations|Cell Transformations, Neoplastic|Neoplastic Cell Transformation|Neoplastic Cell Transformations|Neoplastic Transformation, Cell|Neoplastic Transformations, Cell|Transformation, Cell Neoplastic|Transformation, Neoplastic Cell|Transformations, Cell Neoplastic|Transformations, Neoplastic Cell|Transformations, Tumorigenic|Transformation, Tumorigenic|Tumorigenic Transformation|Tumorigenic Transformations
D001146||Arrhythmia, Sinus|Arrhythmia, Sinoatrial|Arrhythmias, Sinoatrial|Arrhythmias, Sinus|Sinoatrial Arrhythmia|Sinoatrial Arrhythmias|Sinus Arrhythmia|Sinus Arrhythmias
D002472||Cell Transformation, Viral|Cell Transformations, Viral|Transformations, Viral Cell|Transformation, Viral Cell|Viral Cell Transformation|Viral Cell Transformations
C562406||Bladder Diverticulum
C563737||Teratoid Tumor, Atypical
613843||LEBER CONGENITAL AMAUROSIS 15|LCA15|RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED, INCLUDED
D013128||Spinal Osteophytosis|Osteophytoses, Spinal|Osteophytosis, Spinal|Spinal Osteophytoses
D002481||Cellulitis|Phlegmon
D014458||Ulna Fractures|Fractures, Ulna|Fracture, Ulna|Ulna Fracture
173650|C536321||Poikiloderma of Kindler|Bullous acrokeratotic poikiloderma of kindler and weary|Congenital bullous poikiloderma|Kindler syndrome|Poikiloderma, congenital, with bullae, weary type|Poikiloderma, hereditary acrokeratotic
D013121||Spinal Curvatures|Curvature, Spinal|Curvatures, Spinal|Spinal Curvature
C536106||Myostatin-related muscle hypertrophy|Muscle Hypertrophy Syndrome
C565129|123790||Cutis Gyrata Syndrome of Beare And Stevenson|Beare-Stevenson Cutis Gyrata Syndrome|BEARE-STEVENSON SYNDROME|BSTVS|CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON|Cutis Gyrata Syndrome of Beare-Stevenson
C537438||Arrhinia|Congenital absence of the nose|Nose agenesia
D013122||Spinal Diseases|Disease, Spinal|Diseases, Spinal|Spinal Disease
C536107||N acetyltransferase deficiency|N acetyltransferase 1 deficiency|NAT1 deficiency
D015783||Aniridia|Absent Iris|Congenital Aniridia|Irideremia
C536104||Myopathy, limb-girdle, with bone fragility
D013120||Spinal Cord Neoplasms|Intradural Extramedullary Spinal Cord Neoplasms|Intradural-Extramedullary Spinal Cord Neoplasms|Intramedullary Spinal Cord Neoplasms|Intramedullary Spinal Cord Neoplasms, Primary|Neoplasm, Spinal Cord|Neoplasms, Spinal Cord|Primary Intramedullary Spinal Cord Neoplasms|Primary Spinal Cord Neoplasms, Intramedullary|Spinal Cord Neoplasm|Spinal Cord Neoplasms, Benign|Spinal Cord Neoplasms, Intradural Extramedullary|Spinal Cord Neoplasms, Intradural-Extramedullary|Spinal Cord Neoplasms, Intramedullary|Spinal Cord Neoplasms, Malignant|Spinal Cord Neoplasms, Primary Intramedullary|Spinal Cord Tumor|Spinal Cord Tumors|Tumor, Spinal Cord|Tumors, Spinal Cord
D013125||Spinal Neoplasms|Neoplasm, Spinal|Neoplasms, Spinal|Spinal Neoplasm
D014456||Ulcer|Ulcers
D015787||Erythema Chronicum Migrans
C537439||Arroyo Garcia Cimadevilla syndrome|Bilateral anophthalmia, esophageal atresia, and right cryptorchidism
D013124||Spinal Injuries|Injuries, Spinal|Injury, Spinal|Spinal Injury
D015785||Eye Diseases, Hereditary|Disease, Hereditary Eye|Diseases, Hereditary Eye|Eye Disease, Hereditary|Hereditary Eye Disease|Hereditary Eye Diseases
600512||EPILEPSY, FAMILIAL TEMPORAL LOBE, 1|ADLTE|ADPEAF|EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT|EPILEPSY, PARTIAL, WITH AUDITORY FEATURES|ETL1
C536120||Nievergelt syndrome|Mesomelic dwarfism Nievergelt type|Mesomelic Dysplasia, Nievergelt Type
D001117||Arenaviridae Infections|Arenaviridae Infection|Arenavirus Infection|Arenavirus Infections|Infection, Arenaviridae|Infection, Arenavirus|Infections, Arenaviridae|Infections, Arenavirus
C537452||Mental retardation, keratoconus, febrile seizures, and sinoatrial block
C536121||Night blindness skeletal anomalies unusual facies|Hunter Thomson Reed syndrome
C537450||Mental retardation X-linked, South African type
C536124||Noble Bass Sherman syndrome|Ectopia lentis chorioretinal dystrophy myopia
C536824|600975||Glaucoma 3, primary infantile, B|Glaucoma, primary congenital, type 3B|Glaucoma, Primary Congenital, Type B|GLC3B|GLC3, TYPE B|Primary congenital glaucoma type 3B
C537453||Mental retardation, macrocephaly, short stature and craniofacial dysmorphism|Fryns Dereymaeker Haegeman syndrome
C536122||Night blindness, congenital stationary|Congenital stationary night blindness|CSNB1A|CSNB1B|CSNB2|CSNB2A|CSNB2B|CSNB, Complete, X-Linked|CSNB, Incomplete, Autosomal Recessive|CSNB, Incomplete, X-Linked|Hemeralopia-myopia|Myopia-night blindness|Night Blindness, Congenital Stationary, Complete, Autosomal Recessive|Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive|Night blindness, congenital stationary, type 1|Night Blindness, Congenital Stationary, Type 1A|Night Blindness, Congenital Stationary, Type 1B|Night Blindness, Congenital Stationary, Type 2|Night Blindness, Congenital Stationary, Type 2A|Night Blindness, Congenital Stationary, Type 2B|Night blindness, congenital stationary, with myopia|Xlcsnb|X-linked congenital stationary night blindness|X-Linked Csnb
C536123||Nivelon Nivelon Mabille syndrome|Chondrodysplasia pseudohermaphrodism syndrome|Chondrodysplasia-pseudohermaphroditism syndrome|Pseudohermaphrodism and chondrodysplasia
D003773||Dental Plaque|Plaque, Dental
C563701||Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects|Gershoni-Baruch Syndrome
D001112||Arcus Senilis|Arcus Corneae|Arcus, Corneal|Corneal Arcus
253000|D009085||MUCOPOLYSACCHARIDOSIS, TYPE IVA|MPS4A MORQUIO SYNDROME A|MPS IVA|MORQUIO A DISEASE|GALACTOSAMINE-6-SULFATASE DEFICIENCY|GALNS DEFICIENCY
C563704||Proguanil, Poor Metabolism of
D014428||Twins, Conjoined|Conjoined Twin|Conjoined Twins|Siamese Twin|Siamese Twins|Twin, Conjoined|Twin, Siamese|Twins, Siamese
C565162|121210||Febrile Convulsions, Familial, 1|1|CONVULSIONS, FAMILIAL FEBRILE|Convulsions, Familial Febrile, 1|FEB1|FEBRILE SEIZURES, FAMILIAL, 1|Seizures, Familial, 1
C563708||Amyotrophic Lateral Sclerosis, Chmp2B-Related
613825||COMPLEMENT COMPONENT 9 DEFICIENCY|C9D|C9 DEFICIENCY
C567484|300243||Mental Retardation, X-Linked, Syndromic, Christianson Type|Angelman-Like Syndrome, X-Linked|Christianson Syndrome|Intellectual Deficit, X-Linked, South African Type|Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome|MRXSCH
C536176|261670||Dimauro disease|Deficiency Mutase Phosphoglycerate|Glycogen Storage Disease X|Gsd10|Gsd X|Human muscle phosphoglycerate mutase deficiency|Myopathy due to phosphoglycerate mutase deficiency|Pgam Deficiency|PGAMM deficiency|Phosphoglycerate Mutase Deficiency|Phosphoglycerate Mutase, Muscle, Deficiency of
613828||GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8|GEFS+8|GEFSP8|GEFS+, TYPE 8
C537448||Mental retardation Wolff type|Wolff mental retardation syndrome|Wolff type Mental retardation|Wolff Zimmermann syndrome
C537446||Mental retardation spasticity ectrodactyly|Ectrodactyly, spastic paraplegia and mental retardation|Jancar syndrome|Mental retardation, spasticity and transverse limb defects
C536115||Nguyen syndrome
C537447||Mental retardation syndrome, Belgian type|Belgian type mental retardation syndrome
C536116||Nicolaides Baraitser syndrome|Nicolaides-Baraitser Syndrome|Sparse hair and mental retardation
D014424||Turner Syndrome|Bonnevie Ullrich Syndrome|Bonnevie-Ullrich Syndrome|Gonadal Dysgenesis, 45,X|Gonadal Dysgenesis, XO|Monosomy X|Status Bonnevie Ullrich|Status Bonnevie-Ullrich|Syndrome, Ullrich-Turner|Turner&apos;s Syndrome|Turners Syndrome|Ullrich Turner Syndrome|Ullrich-Turner Syndrome|XO Gonadal Dysgenesis
C567772|613071||Bronchiectasis With Or Without Elevated Sweat Chloride 3|Besc3|CYSTIC FIBROSIS-LIKE SYNDROME
C537017|313200||Bulbospinal neuronopathy, X-linked recessive|BULBOSPINAL MUSCULAR ATROPHY, X-LINKED|BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE|KD|KENNEDY DISEASE|KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY|SBMA|SMAX1|SPINAL AND BULBAR MUSCULAR ATROPHY|SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1|XBSN
D001129||Argyria|Argyrias
C537462||Microphthalmia and mental deficiency|Colobomatous microphthalmia|Microphthalmia, colobomatous|Microphthalmos, severe mental retardation, and spastic cerebral palsy|Pinsky DiGeorge Harley syndrome
C537463||Microphthalmia associated with colobomatous cyst|Microphthalmos bilateral, colobomatous orbital cyst
C537461||Merlob Grunebaum Reisner syndrome
C565319|605583||Deafness, Autosomal Dominant 25|DFNA25
C563710||Rhegmatogenous Retinal Detachment, Autosomal Dominant
D003788||Dental Pulp Diseases|Dental Pulp Disease|Disease, Dental Pulp|Diseases, Dental Pulp|Pulp Disease, Dental|Pulp Diseases, Dental
C536135||Median cleft lip, corpus callosum, lipoma, and skin polyps|Cleft, median, of upper lip with polyps of facial skin and nasal mucosa|Pai Levkoff syndrome|Pai syndrome
D003789||Dental Pulp Exposure|Exposure, Dental Pulp|Pulp Exposure, Dental
C536136||Mediastinal Fibrosis|Fibrosing mediastinitis|Idiopathic mediastinal fibrosis|Sclerosing mediastinitis
C536134||Medial Medullary Syndrome
C565326|605463||Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant|RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT
D003784||Dental Pulp Calcification|Anomalous Dysplasia of Dentin|Calcification, Dental Pulp|Calcifications, Dental Pulp|Coronal Dentin Dysplasia|Coronal Dentin Dysplasias|Dental Pulp Calcifications|Dental Pulp Stone|Dental Pulp Stones|Denticle|Denticles|Dentin Anomalous Dysplasia|Dentin Anomalous Dysplasias|Dentin Dyspalsia, Shields Type 2|Dentin Dysplasia, Coronal|Dentin Dysplasias, Coronal|Dentin Dysplasia, Shields Type II|Dentin Dysplasia, Type II|Dysplasia, Coronal Dentin|Dysplasia, Pulpal|Dysplasias, Coronal Dentin|Dysplasias, Pulpal|Pulpal Dysplasia|Pulpal Dysplasias|Pulp Calcification, Dental|Pulp Calcifications, Dental|Pulp Stone|Pulp Stone, Dental|Pulp Stones|Pulp Stones, Dental|Stone, Dental Pulp|Stone, Pulp|Stones, Dental Pulp|Stones, Pulp
C563712||Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2
C563718||Myopathy, Myofibrillar, Zasp-Related|MFM, Zasp-related
C537858|136520||O&apos;Donnell Pappas syndrome|FOVEAL HYPOPLASIA 1|Foveal Hypoplasia and Presenile Cataract Syndrome|Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|Foveal hypoplasia, presenile cataract|FOVEAL HYPOPLASIA WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT|FVH1
D014438||Typhus, Epidemic Louse-Borne|Brill Disease|Brill&apos;s Disease|Brills Disease|Brill Zinsser Disease|Brill-Zinsser Disease|Disease, Brill|Disease, Brill&apos;s|Disease, Brill-Zinsser|Epidemic Louse-Borne Typhus|Epidemic Typhus|Fever, Jail|Fevers, Jail|Jail Fever|Jail Fevers|Louse-Borne Typhus, Epidemic|Typhus|Typhus, Epidemic|Typhus, Epidemic Louse Borne
D015769||Granuloma, Respiratory Tract|Granulomas, Respiratory Tract|Respiratory Tract Granuloma|Respiratory Tract Granulomas
D014437||Typhus, Endemic Flea-Borne|Endemic Flea-Borne Typhus|Endemic Typhus|Flea-Borne Typhus, Endemic|Murine Typhus|Typhus, Endemic|Typhus, Endemic Flea Borne|Typhus, Murine
D003790||Dental Pulp Necrosis|Autolyses, Dental Pulp|Autolysis, Dental Pulp|Dental Pulp Autolyses|Dental Pulp Autolysis|Dental Pulp Gangrene|Dental Pulp Necroses|Gangrene, Dental Pulp|Gangrene, Pulp|Gangrenes, Pulp|Mummification, Pulp|Mummifications, Pulp|Necroses, Dental Pulp|Necroses, Pulp|Necrosis, Dental Pulp|Necrosis, Pulp|Pulp Autolyses, Dental|Pulp Autolysis, Dental|Pulp Gangrene|Pulp Gangrene, Dental|Pulp Gangrenes|Pulp Mummification|Pulp Mummifications|Pulp Necroses|Pulp Necroses, Dental|Pulp Necrosis|Pulp Necrosis, Dental
D013106||Sphingolipidoses|Sphingolipidosis|Sphingolipid Storage Disease|Sphingolipid Storage Diseases|Storage Disease, Sphingolipid|Storage Diseases, Sphingolipid
D017085|604131||alpha-Thalassemia|Alpha Thalassemia|alpha-Thalassemias|A-Thalassemia|Disease, Hemoglobin H|Hemoglobin H Disease|Thalassemia alpha|Thalassemia-alpha|Thalassemia, Alpha
C536126||Non functioning pancreatic endocrine tumor|Non-functioning endocrine pancreatic tumors
C537458||Meralgia paresthetica|Bernhardt-Roth syndrome|Lateral femoral cutaneous nerve entrapment
D051303||Trigeminal Autonomic Cephalalgias|Cephalalgias, Trigeminal Autonomic|Cephalalgia, Trigeminal Autonomic|Trigeminal Autonomic Cephalalgia
D013103||Spherocytosis, Hereditary|Hereditary Spherocytoses|Spherocytoses, Hereditary
D014435||Typhoid Fever|Abdominal Typhus|Enteric Fever|Enteric Fevers|Fever, Enteric|Fevers, Enteric|Fevers, Typhoid|Fever, Typhoid|Typhoid|Typhoid Fevers|Typhoids|Typhus, Abdominal
C580280||Congenital Methemoglobinemia
D051302||Paroxysmal Hemicrania|Chronic Paroxysmal Hemicrania|Chronic Paroxysmal Hemicranias|Episodic Paroxysmal Hemicrania|Episodic Paroxysmal Hemicranias|Hemicrania, Chronic Paroxysmal|Hemicrania, Episodic Paroxysmal|Hemicrania, Paroxysmal|Hemicranias, Chronic Paroxysmal|Hemicranias, Episodic Paroxysmal|Hemicranias, Paroxysmal|Paroxysmal Hemicrania, Chronic|Paroxysmal Hemicrania, Episodic|Paroxysmal Hemicranias|Paroxysmal Hemicranias, Chronic|Paroxysmal Hemicranias, Episodic
D002429||Cecal Diseases|Cecal Disease|Disease, Cecal|Diseases, Cecal
C567289||Chromosome 2p16.1-P15 Deletion Syndrome
C563412|175050||Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia|JPHHT Syndrome|JP/HHT SYNDROME|JPHT|JPSHHT|JPS/HHT|Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome|JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME|JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA|Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation|Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli
D003751||Dental Fistula|Dental Fistulas|Fistula, Dental|Fistula, Gingival|Fistulas, Dental|Fistulas, Gingival|Gingival Fistula|Gingival Fistulas
D002422||Causalgia|Causalgia Syndrome|Causalgia Syndromes|Complex Regional Pain Syndrome Type II|CRPS Type II|Deafferentation Pain|Pain, Deafferentation|Syndrome, Causalgia|Syndromes, Causalgia|Type II Complex Regional Pain Syndrome
231050||GELEOPHYSIC DYSPLASIA 1|GPHYSD1
D003750||Dental Fissures|Dental Fissure|Fissure, Dental|Fissures, Dental
D014406||Tularemia|Francisella tularensis Infection|Francisella tularensis Infections|Infection, Francisella tularensis|Infections, Francisella tularensis|Tularemias
C567291||Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb|1q21.1 Contiguous Gene Deletion|1q21.1 Deletion|1q21.1 Microdeletion|Chromosome 1q21.1 Deletion Syndrome
C535334|600501||ABCD syndrome|ABCDS|Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness
C567290||Chromosome 1q21.1 Duplication Syndrome
D006509|610424||Hepatitis B|HBV, RESISTANCE TO, INCLUDED|HBV, SUSCEPTIBILITY TO HEPATITIS B VIRUS, RESISTANCE TO, INCLUDED|HEPATITIS B VIRUS, SUSCEPTIBILITY TO
C538139|222900||Sucrase-isomaltase deficiency, congenital|Congenital Sucrase-Isomaltase Deficiency|Congenital Sucrose Intolerance|Congenital sucrose-isomaltase malabsorption|Congenital Sucrose-Isomaltose Malabsorption|CSID|Disaccharide intolerance, 1|Disaccharide Intolerance I|Si Deficiency|Sucrase-Isomaltase Deficiency|Sucrose intolerance congenital|Sucrose Intolerance, Congenital|Sucrose-isomaltase malabsorption, congenital|Sucrose-Isomaltose Malabsorption, Congenital
C567299||Hepatoblastoma Caused By Somatic Mutation
C567298||Craniofaciofrontodigital Syndrome|Cantu Craniofaciofrontodigital Syndrome
D014402||Tuberous Sclerosis|Adenoma Sebaceum|Bourneville Disease|Bourneville Phacomatosis|Bourneville Phakomatosis|Bourneville Pringle Disease|Bourneville-Pringle Disease|Bourneville Pringle&apos;s Disease|Bourneville-Pringle&apos;s Disease|Bourneville-Pringles Disease|Bourneville&apos;s Disease|Bourneville&apos;s Syndrome|Bourneville Syndrome|Cerebral Scleroses|Cerebral Sclerosis|Disease, Bourneville-Pringle|Disease, Bourneville-Pringle&apos;s|Epiloia|Phacomatosis, Bourneville|Phakomatosis, Bourneville|Sclerosis, Cerebral|Sclerosis Tuberosa|Sclerosis, Tuberose|Sclerosis, Tuberous|Syndrome, Bourneville|Syndrome, Bourneville&apos;s|Tuberose Sclerosis|Tuberous Sclerosis Complex
D014401||Tuberculosis, Urogenital|Tuberculoses, Urogenital|Urogenital Tuberculoses|Urogenital Tuberculosis
D014400||Tuberculosis, Splenic|Splenic Tuberculoses|Splenic Tuberculosis|Tuberculoses, Splenic
C538236|201810||Adrenal hyperplasia 2|3 alpha beta-HSD deficiency|3 alpha beta-hydroxysteroid dehydrogenase deficiency|3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of|3-BETA-HSD DEFICIENCY|3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY|3-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF|ADRENAL HYPERPLASIA II|HSDB|HSDB3
C537400||Pilotto syndrome|Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation
C537401||Pineal Teratoma|Teratoma, Pineal
D003769||Dental Occlusion, Traumatic|Dental Occlusions, Traumatic|Occlusion, Dental, Traumatic|Occlusions, Traumatic Dental|Occlusion, Traumatic Dental|Traumatic Dental Occlusion|Traumatic Dental Occlusions
C565969|202700||Neutropenia, Severe Congenital, Autosomal Dominant 1|NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT|SCN1
D003763||Dental Leakage|Dental Leakages|Leakage, Dental|Leakages, Dental
215600|C566123|C565846||Cirrhosis, Familial|CIRRHOSIS, CRYPTOGENIC, INCLUDED|CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED|CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED|COPPER-OVERLOAD CIRRHOSIS, INCLUDED|COPPER TOXICOSIS, IDIOPATHIC, INCLUDED|ENDEMIC TYROLEAN INFANTILE CIRRHOSIS, INCLUDED|ETIC, INCLUDED|ICC, INCLUDED|ICT, INCLUDED|INDIAN CHILDHOOD CIRRHOSIS, INCLUDED|SEN SYNDROME, INCLUDED|Copper Toxicosis, Idiopathic
C537451|300148||MEHMO syndrome|MEHMO|Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity|MENTAL RETARDATION, X-LINKED, SYNDROMIC 20|MENTAL RETARDATION, X-LINKED, SYNDROMIC 25|MRXS20|MRXS25|X-linked MEHMO syndrome
D005168|227500||Factor VII Deficiency|Deficiencies, Factor VII|Deficiency, Factor VII|F7 DEFICIENCY|Factor VII Deficiencies|Hypoproconvertinemia|Hypoproconvertinemias
D001102||Arbovirus Infections|Arbovirus Infection|Infection, Arbovirus|Infections, Arbovirus
D001100||Arachnoiditis|Arachnoiditides|Arachnoid Membrane Inflammation|Arachnoid Membrane Inflammations|Inflammation, Arachnoid Membrane|Inflammations, Arachnoid Membrane
C538240|104530||Amelogenesis imperfecta local hypoplastic form|Amelogenesis Imperfecta, Hypoplastic Type|Hypoplastic type amelogenesis imperfecta|Local, hypoplastic type of amelogenesis imperfecta|Microdontia, Generalized|MICRODONTIA, GENERALIZED, INCLUDED
D002430||Cecal Neoplasms|Cancer, Cecal|Cancer of Cecum|Cancer of the Cecum|Cecal Cancer|Cecal Neoplasm|Neoplasm, Cecal|Neoplasms, Cecal
C562815|222748||Dihydropyrimidinase Deficiency|DIHYDROPYRIMIDINURIA|DPH Deficiency|DPYS Deficiency
C536171|222730||Dicarboxylicaminoaciduria|Dicarboxylic aminoaciduria|Dicarboxylic amino aciduria|Dicarboxylicamino Aciduria|Glutamate and aspartate transport defect|Glutamate-Aspartate Transport Defect|Inborn error of glutamic and aspartate transport
D015746||Abdominal Pain|Abdominal Pains|Pain, Abdominal|Pains, Abdominal
D015745||Granuloma, Foreign-Body|Foreign Body Granuloma|Foreign-Body Granuloma|Foreign-Body Granulomas|Granuloma, Foreign Body|Granulomas, Foreign-Body
C566441|610125||Microphthalmia, Syndromic 5|MCOPS5|RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED
D014412||Tumor Virus Infections|Fibroma, Shope|Infections, Tumor Virus|Infection, Tumor Virus|Papilloma, Shope|Shope Fibroma|Shope Papilloma|Tumor Virus Infection
C536573|112310||Boomerang dysplasia|Boomerang-like skeletal dysplasia|Dwarfism with short, bowed, rigid limbs and characteristic facies|Piepkorn Dysplasia
C537411||Burn-Mckeown syndrome|Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance
C567268||Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
C537412||Burnett Schwartz Berberian syndrome|Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|Atrophodermia reticulata|Atrophodermia Reticulata Symmetrica Faciei|Atrophodermia vermiculata|Folliculitis ulerythematosa|Folliculitis ulerythematosa reticulata|Honeycomb atrophy|Keratosis pilaris|Keratosis Pilaris Atrophicans Facies|Ulerythema ophryogenes|Ulerythema ophryogenesis|Ulerythema ophryogenes with multiple congenital anomalies
C567267||Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression
C563110|300004||Proud Syndrome|ACC With Abnormal Genitalia|Corpus Callosum, Agenesis of, with Abnormal Genitalia|PROUD SYNDROME
D003731||Dental Caries|Caries, Dental|Carious Dentin|Carious Dentins|Decay, Dental|Dental Decay|Dental White Spot|Dental White Spots|Dentin, Carious|Dentins, Carious|Spots, White|Spot, White|White Spot|White Spot, Dental|White Spots|White Spots, Dental
D015715||Corneal Edema|Corneal Edemas|Edema, Corneal|Edemas, Corneal
C567886|278720||Xeroderma Pigmentosum, Complementation Group C|Xeroderma Pigmentosum III|XP3|XPC|XPCC|XP, Group C
C580233||Lactate Dehydrogenase Deficiency|Deficiency of Lactate Dehydrogenase|Lactate Dehydrogenase Subunit Deficiencies|Ldh Deficiency
C566947|156200||Mental Retardation, Autosomal Dominant 1|CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED|MRD1
C567275||Craniodiaphyseal Dysplasia, Autosomal Dominant
C537405||Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
C567274||Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
C567581|300807||Thrombophilia, X-Linked, Due To Factor Ix Defect|DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED|THPH8
C537402||Pinheiro Freire-Maia Miranda syndrome|Trichodermodysplasia with dental alterations
C567276||Coumarin Sensitivity
C537408||Brunoni syndrome|Mesomelia, radial hypoplasia bifid thumb unusual facies|Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia
C567272||Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
D002418||Cattle Diseases|Bovine Disease|Bovine Diseases|Cattle Disease|Disease, Bovine|Disease, Cattle|Diseases, Bovine|Diseases, Cattle
C537422||Apparent mineralocorticoid excess|Cortisol 11-beta-ketoreductase deficiency
D003744||Dental Enamel Hypoplasia|Ageneses, Enamel|Agenesis, Enamel|Enamel Ageneses|Enamel Agenesis|Enamel Hypoplasia|Enamel Hypoplasia, Dental|Enamel Hypoplasias|Enamel, Hypoplastic|Hypomineralization, Molar Incisor|Hypoplasia, Dental Enamel|Hypoplasia, Enamel|Hypoplasias, Enamel|Hypoplastic Enamel|Molar Incisor Hypomineralization
C567278||Holoprosencephaly 10|Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies
D003741||Dental Deposits|Dental Deposit|Deposit, Dental|Deposits, Dental|Materia Alba
C563242|261000||Intrinsic Factor Deficiency|IFD|Pernicious Anemia, Congenital, due to Defect of Intrinsic Factor
153100|D008209||Lymphedema|Congenital Familial Lymphedema|Congenital Hereditary Lymphedema|Congenital Hereditary Lymphedemas|Congenital Lymphedema, Primary|Congenital Lymphedemas, Primary|Early Onset Lymphedema|Early-Onset Lymphedema|Early Onset Lymphedemas|Early-Onset Lymphedemas|Hereditary Lymphedema|Hereditary Lymphedema 1|Hereditary Lymphedema 1s|Hereditary Lymphedema, Congenital|Hereditary Lymphedemas|Hereditary Lymphedemas, Congenital|Hereditary Lymphedema Type I|LMPH1A|Lymphedema, Congenital Hereditary|Lymphedema, Early Onset|Lymphedema, Early-Onset|Lymphedema, Hereditary|Lymphedema, Hereditary, Ia|Lymphedema, Nonne-Milroy|Lymphedema, Primary Congenital|Lymphedemas|Lymphedemas, Congenital Hereditary|Lymphedemas, Early Onset|Lymphedemas, Early-Onset|Lymphedemas, Hereditary|Lymphedemas, Primary Congenital|Milroy Disease|Milroy&apos;s Disease|Milroys Disease|Nonne Milroy Disease|Nonne-Milroy Disease|Nonne Milroy Lymphedema|Nonne-Milroy Lymphedema|Nonne Milroy Meige Disease|Nonne-Milroy-Meige Disease|PCL|Primary Congenital Lymphedema|Primary Congenital Lymphedemas
D050010||Hyperthyroxinemia, Familial Dysalbuminemic|Dysalbuminemic Hyperthyroxinemia, Familial|Familial Dysalbuminemic Hyperthyroxinemia
C537413||Burning mouth syndrome- Type 3|Type 3 burning mouth syndrome
C580241||Larsen Syndrome
C536520|314390||VACTERL association with hydrocephaly, X-linked|VACTERL Association With Hydrocephalus, X-Linked|VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS|VACTERL-H, X-Linked|VACTERLX|X-linked VACTERL-H syndrome
D011218|176270||Prader-Willi Syndrome|Labhart Willi Prader Fanconi Syndrome|Labhart-Willi-Prader-Fanconi Syndrome|Labhart Willi Syndrome|Labhart-Willi Syndrome|Prader Labhart Willi Syndrome|Prader-Labhart-Willi Syndrome|PRADER-LABHART-WILLI SYNDROME PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED|PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED|Prader Willi Syndrome|PWCR, INCLUDED|PWS|Royer&apos;s Syndrome|Royers Syndrome|Royer Syndrome|Syndrome, Labhart-Willi|Syndrome, Labhart-Willi-Prader-Fanconi|Syndrome, Prader-Labhart-Willi|Syndrome, Prader-Willi|Syndrome, Royer|Syndrome, Royer&apos;s|Syndrome, Willi-Prader|Willi Prader Syndrome|Willi-Prader Syndrome
C537417||Butyrylcholinesterase deficiency|Acylcholine acylhydrolase deficiency|Apnea, Postanesthetic|Cholinesterase 2 Deficiency|Pseudocholinesterase deficiency|Pseudocholinesterase E1 deficiency|Succinylcholine Sensitivity|Suxamethonium Sensitivity
D051346||Mobility Limitation|Ambulation Difficulty|Ambulatory Difficulty|Difficulty Ambulation|Difficulty Walking|Limitation, Mobility|Mobility Limitations
C537418||Opitz trigonocephaly syndrome|Trigonocephaly syndrome
D003715||Dengue|Classical Dengue|Classical Dengue Fever|Classical Dengue Fevers|Classical Dengues|Dengue, Classical|Dengue Fever|Dengue Fever, Classical|Dengue Fevers, Classical|Dengues, Classical|Fever, Dengue
C567249||Retinitis Pigmentosa 46|Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related
C562593|278780||Xeroderma Pigmentosum, Complementation Group G|CEREBROOCULOFACIOSKELETAL SYNDROME 3, INCLUDED|COFS3, INCLUDED|Xeroderma Pigmentosum VII|XERODERMA PIGMENTOSUM VII;XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED|XPG|XPGC|XPG/CS, INCLUDED|XP, GROUP G
D020295||Brain Stem Neoplasms|Brainstem Neoplasm|Brain Stem Neoplasm|Brainstem Neoplasm, Primary|Brainstem Neoplasms|Brainstem Neoplasms, Primary|Brain Stem Neoplasms, Primary|Brainstem Tumor|Brain Stem Tumor|Brainstem Tumors|Brain Stem Tumors|Medullary Neoplasm|Medullary Neoplasms|Medullary Tumor|Medullary Tumors|Mesencephalic Neoplasm|Mesencephalic Neoplasms|Midbrain Neoplasm|Midbrain Neoplasms|Midbrain Tumor|Midbrain Tumors|Neoplasm, Brainstem|Neoplasm, Brain Stem|Neoplasm, Medullary|Neoplasm, Mesencephalic|Neoplasm, Midbrain|Neoplasm, Pontine|Neoplasm, Primary Brainstem|Neoplasms, Brainstem|Neoplasms, Brain Stem|Neoplasms, Brainstem, Primary|Neoplasms, Medullary|Neoplasms, Mesencephalic|Neoplasms, Midbrain|Neoplasms, Pontine|Neoplasms, Primary Brainstem|Pontine Neoplasm|Pontine Neoplasms|Pontine Tumor|Pontine Tumors|Primary Brainstem Neoplasm|Primary Brainstem Neoplasms|Primary Brain Stem Neoplasms|Tumor, Brain Stem|Tumor, Medullary|Tumor, Midbrain|Tumor, Pontine|Tumors, Medullary|Tumors, Midbrain|Tumors, Pontine
153880|D008269||Macular Edema|Central Retinal Edema, Cystoid|CYMD|Cystoid Macular Dystrophy|Cystoid Macular Edema|Cystoid Macular Edema, Postoperative|DCMD|Edema, Cystoid Macular|Edema, Macular|Irvine Gass Syndrome|Irvine-Gass Syndrome|Macular Dystrophy, Dominant Cystoid|Macular Edema, Cystoid|MDDC|Syndrome, Irvine-Gass
D020294||Myasthenic Syndromes, Congenital|Congenital Myasthenia|Congenital Myasthenia Gravis|Congenital Myasthenic Syndrome|Congenital Myasthenic Syndromes|Congenital Myasthenic Syndromes, Postsynaptic|Congenital Myasthenic Syndromes, Presynaptic|Congenital Slow Channel Myasthenic Syndromes|Congenital Slow-Channel Myasthenic Syndromes|Gravi, Congenital Myasthenia|Myasthenia Gravis, Congenital|Myasthenic Syndrome, Congenital|Myasthenic Syndrome, Congenital, Slow-Channel|Myasthenic Syndromes, Congenital, Slow Channel|Postsynaptic Congenital Myasthenic Syndromes|Presynaptic Congenital Myasthenic Syndromes|Slow Channel Congenital Myasthenic Syndromes|Slow-Channel Congenital Myasthenic Syndromes|Syndrome, Congenital Myasthenic|Syndromes, Congenital Myasthenic
D003711||Demyelinating Diseases|Clinically Isolated CNS Demyelinating Syndrome|Clinically Isolated Syndrome, CNS Demyelinating|Demyelinating Disease|Demyelinating Disorder|Demyelinating Disorders|Demyelination|Demyelinations
D020293||Vasculitis, Central Nervous System|Angiitis, Central Nervous System|Angiitis, Cerebral|Angiitis, Granulomatous|Arteritis, Granulomatous|Arteritis, Postzoster|Central Nervous System Angiitis|Central Nervous System Vasculitis|Cerebral Angiitis|Cerebral Vasculitis|CNS Vasculitis|CNS Vasculitis, Primary|CNS Vasculitis, Secondary|Granulomatous Angiitis|Granulomatous Arteritis|Postzoster Arteritis|Primary Central Nervous System Vasculitis|Primary CNS Vasculitis|Secondary CNS Vasculitis|Vasculitis, Cerebral|Vasculitis, CNS|Vasculitis, CNS, Secondary|Vasculitis, Primary CNS|Vasculitis, Secondary CNS
310440|C564093||Myopathy, X-Linked, with Excessive Autophagy|MEAX|XMEA
605285|C535813||Neuropathy, hereditary motor and sensory, Russe type|Charcot-Marie-Tooth disease, autosomal recessive, type 4g|Charcot-Marie-Tooth disease, type 4g|Charcot-Marie-Tooth Neuropathy, Type 4g|Cmt4g|Hereditary motor and sensory neuropathy, Russe type|HMSNR
C566695|181400||Scapuloperoneal Syndrome, Neurogenic, Kaeser Type|Kaeser Syndrome|SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER|SCPNK|Stark-Kaeser Syndrome
D020299||Intracranial Hemorrhage, Hypertensive|Cerebral Hemorrhage, Hypertensive|Cerebral Hemorrhages, Hypertensive|Cerebral Hypertensive Hemorrhage|Cerebral Hypertensive Hemorrhages|Hemorrhage, Cerebral Hypertensive|Hemorrhage, Hypertensive Cerebral|Hemorrhage, Hypertensive Intracerebral|Hemorrhage, Hypertensive Intracranial|Hemorrhage, Intracranial Hypertensive|Hemorrhages, Cerebral Hypertensive|Hemorrhages, Hypertensive Cerebral|Hemorrhages, Hypertensive Intracerebral|Hemorrhages, Hypertensive Intracranial|Hemorrhages, Intracranial Hypertensive|Hypertensive Cerebral Hemorrhage|Hypertensive Cerebral Hemorrhages|Hypertensive Hemorrhage, Cerebral|Hypertensive Hemorrhage, Intracranial|Hypertensive Hemorrhages, Cerebral|Hypertensive Hemorrhages, Intracranial|Hypertensive Intracerebral Hemorrhage|Hypertensive Intracerebral Hemorrhages|Hypertensive Intracranial Hemorrhage|Hypertensive Intracranial Hemorrhages|Intracerebral Hemorrhage, Hypertensive|Intracerebral Hemorrhages, Hypertensive|Intracranial Hemorrhages, Hypertensive|Intracranial Hypertensive Hemorrhage|Intracranial Hypertensive Hemorrhages
C565302|605727||Otosclerosis 2|OTSC2
C537204|609307||Spinocerebellar ataxia 27|Cerebellar ataxia, autosomal dominant, FGF14-related|SCA27
C580212||Agenesis of Cerebellar Vermis|Cerebello-Oculo-Renal Syndrome|Familial Aplasia of the Vermis|Joubert-Bolthauser Syndrome
C536527|607636||Van Buchem disease type 2|Osteosclerosis of the skull and enlarged mandible|Van Buchem Disease, Type 2|VBCH2
D003719||Dens in Dente|Dens in Dentes|Dente, Dens in|Dentes, Dens in|in Dente, Dens|in Dentes, Dens
D003728||Dental Calculus|Calculus, Dental|Tartar
C537855|608345||Nystagmus 3, congenital, autosomal dominant|NYS3
C567258||Hypoadiponectinemia|Adiponectin Deficiency
C537205|610246||Spinocerebellar ataxia 28|SCA28
C562707|201400||ACTH Deficiency, Isolated|ADRENOCORTICOTROPIC HORMONE DEFICIENCY|IAD
D015701||Near Drowning|Drowning, Near|Drownings, Near|Near-Drowning|Near Drownings|Near-Drownings
C580224||Keratitis-Ichthyosis-Deafness Syndrome|Keratitis, Ichthyosis, and Deafness
C566968|611307||Muscular Dystrophy, Limb-Girdle, Type 2L|LGMD2L
C567264||Retinitis Pigmentosa 7 With Bull&apos;S-Eye Maculopathy
D050033||Thyroid Dysgenesis|Agenesis, Thyroid|Dysgenesis, Thyroid|Ectopic Thyroid|Ectopic Thyroids|Hypoplasia, Thyroid|Thyroid Agenesis|Thyroid, Ectopic|Thyroid Hypoplasia|Thyroids, Ectopic
C567263||Retinitis Pigmentosa 7, Digenic
D050032||Postpartum Thyroiditis|Post-partum Thyroiditides|Postpartum Thyroiditides|Post partum Thyroiditis|Post-partum Thyroiditis|Thyroiditides, Postpartum|Thyroiditides, Post-partum|Thyroiditis, Postpartum|Thyroiditis, Post-partum
D020288|260500||Papilloma, Choroid Plexus|Choroid Plexus Papilloma|CHOROID PLEXUS PAPILLOMA CHOROID PLEXUS CARCINOMA, INCLUDED|Choroid Plexus Papillomas|CPC, INCLUDED|CPP|Papilloma of Choroid Plexus|Papillomas, Choroid Plexus
C567266||Deafness, Autosomal Dominant, Due To Mutation In Myo1a
D050035||Sexual Infantilism|Genital Infantilism|Infantilism, Genital|Infantilism, Sexual
C537784|132900||Aortic aneurysm, familial thoracic 4|AAT4|Aortic aneurysm/aortic dissection and patent ductus arteriosus|FAA4
609041|C563807||Spastic Paraplegia 27, Autosomal Recessive|SPG27
D020274||Autoimmune Diseases of the Nervous System|Autoimmune Disease, Neurologic|Autoimmune Diseases, Nervous System|Autoimmune Diseases, Neurologic|Autoimmune Disorders, Nervous System|Autoimmune Disorders of the Nervous System|Autoimmune Nervous System Diseases|Disease, Neurologic Autoimmune|Diseases, Neurologic Autoimmune|Immune Diseases, Nervous System|Immune Disorders, Nervous System|Nervous System Autoimmune Diseases|Nervous System Immune Diseases|Nervous System Immune Disorders|Neurologic Autoimmune Disease|Neurologic Autoimmune Diseases
C567277|601544||Deafness, Autosomal Dominant 3A|DFNA3A
D019283||Pancreatitis, Acute Necrotizing|Acute Necrotizing Pancreatitis|Necrotizing Pancreatitis, Acute
C567224||Chromosome 22q11.2 Microduplication Syndrome|22q11.2 Duplication|Chromosome 22q11.2 Duplication Syndrome
D020271||Heredodegenerative Disorders, Nervous System|Degenerative Disease, Nervous System, Hereditary|Degenerative Hereditary Diseases, Nervous System|Degenerative Hereditary Disorders, Nervous System|Disease, Hereditary Neurodegenerative|Disease, Neurodegenerative Hereditary|Diseases, Hereditary Neurodegenerative|Diseases, Neurodegenerative Hereditary|Hereditary Degenerative Disorders, Nervous System|Hereditary-Degenerative Disorders, Nervous System|Hereditary Disease, Neurodegenerative|Hereditary Diseases, Neurodegenerative|Hereditary Neurodegenerative Disease|Hereditary Neurodegenerative Diseases|Nervous System Degenerative Hereditary Diseases|Nervous System Diseases, Degenerative, Hereditary|Nervous System Hereditary Degenerative Diseases|Neurodegenerative Disease, Hereditary|Neurodegenerative Diseases, Hereditary|Neurodegenerative Hereditary Disease|Neurodegenerative Hereditary Diseases
D019282||Wasting Syndrome|Wasting Disease|Wasting Diseases|Wasting Syndromes
D052537|607616||Niemann-Pick Disease, Type B|Niemann Pick Disease, Adult Non Neuronopathic|Niemann-Pick Disease, Adult Non-Neuronopathic|NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION, INCLUDED|Niemann Pick Disease, Non Neuronopathic Type|Niemann-Pick Disease, Non-Neuronopathic Type|Niemann Pick Disease, Type B|Niemann Pick Disease, Type E|Niemann-Pick Disease, Type E|NIEMANN-PICK DISEASE, TYPE E, INCLUDED|NIEMANN-PICK DISEASE, TYPE F, INCLUDED|Niemann Pick Disease, Visceral|Niemann-Pick Disease, Visceral|Niemann Pick&apos;s Disease Type B|Niemann-Pick&apos;s Disease Type B|Niemann Pick&apos;s Disease Type E|Niemann-Pick&apos;s Disease Type E|Type B Niemann Pick Disease|Type B Niemann-Pick Disease
D020270||Alcohol Withdrawal Seizures|Alcoholic Seizure|Alcoholic Seizures|Alcohol Withdrawal Induced Major Motor Seizure|Alcohol Withdrawal-Induced Major Motor Seizure|Alcohol Withdrawal Induced Seizure|Alcohol Withdrawal-Induced Seizure|Alcohol Withdrawal-Induced Seizures|Alcohol Withdrawal Induced Status Epilepticus|Alcohol Withdrawal-Induced Status Epilepticus|Alcohol Withdrawal Seizure|Major Motor Seizure, Alcohol Withdrawal Induced|Major Motor Seizure, Alcohol Withdrawal-Induced|Seizure, Alcoholic|Seizure, Alcohol Withdrawal|Seizure, Alcohol Withdrawal-Induced|Seizures, Alcoholic|Seizures, Alcohol Withdrawal|Seizures, Alcohol Withdrawal-Induced|Status Epilepticus, Alcohol Withdrawal Induced|Status Epilepticus, Alcohol Withdrawal-Induced|Withdrawal-Induced Seizure, Alcohol|Withdrawal-Induced Seizures, Alcohol|Withdrawal Seizure, Alcohol|Withdrawal Seizures, Alcohol
C565705|610199||Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism|NDH SYNDROME
C563984|108770||Atrial Standstill|Atrial Cardiomyopathy with Heart Block|ATRIAL STANDSTILL 1|ATRST1|Cardiomyopathy, Familial, with Conduction Disturbance
C537480|254130||Miyoshi myopathy|Miyoshi distal myopathy|Miyoshi Muscular Dystrophy 1|MIYOSHI MYOPATHY|Mmd1|Muscular dystrophy, distal, late onset, autosomal recessive|Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive
D020279||Hereditary Central Nervous System Demyelinating Diseases|Central Nervous System Demyelinating Diseases, Hereditary|Central Nervous System Demyelinating Hereditary Diseases|Central Nervous System Hereditary Demyelinating Diseases|Demyelinating Central Nervous System Diseases, Hereditary|Demyelinating Diseases, Central Nervous System, Hereditary|Hereditary Demyelinating Diseases, Central Nervous System
D020278||Demyelinating Autoimmune Diseases, CNS|Autoimmune Demyelinating Diseases, Central Nervous System|Autoimmune Demyelinating Diseases, Cerebral|Autoimmune Demyelinating Diseases, CNS|Autoimmune Demyelinating Diseases, Spinal Cord|Autoimmune Demyelinating Disorders, CNS|Autoimmune Diseases, Demyelinating, Brain|Brain Autoimmune Demyelinating Diseases|Cerebral Demyelinating Diseases, Autoimmune|CNS Autoimmune Demyelinating Disorders|CNS Demyelinating Autoimmune Diseases|Demyelinating Autoimmune Diseases, Brain|Demyelinating Autoimmune Diseases, Central Nervous System|Demyelinating Autoimmune Diseases, Cerebral|Demyelinating Autoimmune Diseases, Spinal Cord|Demyelinating Autoimmune Disorders, CNS|Demyelinating Disease, Autoimmune, CNS|Spinal Cord Demyelinating Autoimmune Diseases
D020277||Polyradiculoneuropathy, Chronic Inflammatory Demyelinating|Chronic Inflammatory Demyelinating Polyradiculoneuropathy|Chronic Inflammatory Polyradiculoneuropathies|Chronic Inflammatory Polyradiculoneuropathy|Chronic Inflammatory Polyradiculopathies|Chronic Inflammatory Polyradiculopathy|CIDP|Inflammatory Polyradiculopathies, Chronic|Inflammatory Polyradiculopathy, Chronic|Polyneuropathy, Inflammatory Demyelinating, Chronic|Polyradiculoneuropathies, Chronic Inflammatory|Polyradiculoneuropathy, Chronic Inflammatory|Polyradiculopathies, Chronic Inflammatory|Polyradiculopathy, Chronic Inflammatory
256370||NEPHROTIC SYNDROME, TYPE 4|NPHS4
C563923|608471||Corneal Dystrophy, Lattice Type IIIA|CDL3A|Lattice Corneal Dystrophy, Type IIIA
D015470|601626||Leukemia, Myeloid, Acute|Acute Myeloblastic Leukemia|Acute Myeloblastic Leukemias|Acute Myelocytic Leukemia|Acute Myelocytic Leukemias|Acute Myelogenous Leukemia|Acute Myelogenous Leukemias|Acute Myeloid Leukemia|Acute Myeloid Leukemias|Acute Myeloid Leukemia with Maturation|Acute Myeloid Leukemia without Maturation|Acute Nonlymphoblastic Leukemia|Acute Nonlymphoblastic Leukemias|Acute Nonlymphocytic Leukemia|Acute Nonlymphocytic Leukemias|AML|ANLL|Leukemia, Acute Myeloblastic|Leukemia, Acute Myelocytic|Leukemia, Acute Myelogenous|LEUKEMIA, ACUTE MYELOGENOUS LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO, INCLUDED|Leukemia, Acute Myeloid|Leukemia, Acute Nonlymphoblastic|Leukemia, Acute Nonlymphocytic|Leukemia, Myeloblastic, Acute|Leukemia, Myelocytic, Acute|Leukemia, Myelogenous, Acute|Leukemia, Myeloid, Acute, M1|Leukemia, Myeloid, Acute, M2|Leukemia, Nonlymphoblastic, Acute|Leukemia, Nonlymphocytic, Acute|Leukemias, Acute Myeloblastic|Leukemias, Acute Myelocytic|Leukemias, Acute Myelogenous|Leukemias, Acute Myeloid|Leukemias, Acute Nonlymphoblastic|Leukemias, Acute Nonlymphocytic|Myeloblastic Leukemia, Acute|Myeloblastic Leukemias, Acute|Myelocytic Leukemia, Acute|Myelocytic Leukemias, Acute|Myelogenous Leukemia, Acute|Myelogenous Leukemias, Acute|Myeloid Leukemia, Acute|Myeloid Leukemia, Acute, M1|Myeloid Leukemia, Acute, M2|Myeloid Leukemias, Acute|Nonlymphoblastic Leukemia, Acute|Nonlymphoblastic Leukemias, Acute|Nonlymphocytic Leukemia, Acute|Nonlymphocytic Leukemias, Acute
312612|C564065||Retinitis Pigmentosa 6|Retinitis Pigmentosa, X-Linked Recessive, 6|RP6
C567232||Chromosome 15q26-Qter Deletion Syndrome|Drayer Syndrome
D052517|272200||Multiple Sulfatase Deficiency Disease|Juvenile Sulfatidoses|Juvenile Sulfatidosis|MSD|Mucosulfatidosis|Multiple Sulfatase Deficiencies|Multiple Sulfatase Deficiency|Multiple Sulphatase Deficiency Disease|Sulfatidoses, Juvenile|Sulfatidosis, Juvenile|Sulfatidosis Juvenile, Austin Type|Sulfatidosis, Juvenile, Austin Type
D020265||Lead Poisoning, Nervous System, Adult|Adult Neurologic Saturnism|Lead Induced Nervous System Diseases, Adult|Lead-Induced Polyneuropathies|Lead Induced Polyneuropathy|Lead-Induced Polyneuropathy|Lead Poisoning, Neurologic, Adult|Lead Polyneuropathy|Nervous System Diseases, Lead Induced, Adult|Nervous System Poisoning, Lead, Adult|Nervous System Toxicity, Lead, Adult|Neurologic Saturnism, Adult|Neurotoxicity Syndrome, Lead, Adult|Plumbism, Neurologic, Adult|Poisoning, Lead, Nervous System, Adult|Poisoning, Lead, Neurologic, Adult|Polyneuropathies, Lead-Induced|Polyneuropathy, Lead|Polyneuropathy, Lead Induced|Polyneuropathy, Lead-Induced|Saturnism, Adult Neurologic
D003704||Dementia|Amentia|Amentias|Dementia, Familial|Dementias|Dementias, Familial|Dementias, Senile Paranoid|Familial Dementia|Familial Dementias|Paranoid Dementia, Senile|Paranoid Dementias, Senile|Senile Paranoid Dementia|Senile Paranoid Dementias
C567239||Chromosome 6pter-P24 Deletion Syndrome
D020264||Lead Poisoning, Nervous System, Childhood|Childhood Lead Encephalopathy|Childhood Neurologic Saturnism|Childhood Saturine Encephalopathy|Encephalopathy, Childhood Lead|Encephalopathy, Childhood Saturine|Lead Encephalopathy, Childhood|Lead Induced Nervous System Disease, Childhood|Lead-Induced Nervous System Disease, Childhood|Lead Poisoning, Neurologic, Childhood|Nervous System Disease, Lead-Induced, Childhood|Nervous System Poisoning, Lead, Childhood|Neurologic Saturnism, Childhood|Neurotoxicity Syndrome, Lead, Childhood|Plumbism, Neurologic, Childhood|Poisoning, Lead, Nervous System, Childhood|Poisoning, Lead, Neurologic, Childhood|Saturine Encephalopathy, Childhood|Saturnism, Childhood Neurologic
D020263||Lead Poisoning, Nervous System|Lead-Induced Nervous System Diseases|Lead Neurotoxicity Syndrome|Lead Neurotoxicity Syndromes|Lead Poisoning, Neurologic|Nervous System Diseases, Lead-Induced|Nervous System Plumbism|Nervous System Poisoning, Lead|Neurologic Lead Poisoning|Neurologic Plumbism|Neurotoxicity Syndrome, Lead|Neurotoxicity Syndromes, Lead|Plumbism, Nervous System|Plumbism, Neurologic|Poisoning, Lead, Nervous System|Poisoning, Lead, Neurologic|Syndrome, Lead Neurotoxicity|Syndromes, Lead Neurotoxicity
D020262||Mercury Poisoning, Nervous System|Encephalopathy, Mercury|Inorganic Mercury Poisoning|Mad Hatter Disease|Mad Hatter Diseases|Mad Hatter&apos;s Disease|Mad Hatters Disease|Mercurialism, Nervous System|Mercurialism, Neurologic|Mercurial Neuroanesthenia|Mercurial Psychosis|Mercury Encephalopathy|Mercury Induced Nervous System Diseases|Mercury-Induced Nervous System Diseases|Mercury Neurotoxicity Syndrome|Mercury Neurotoxicity Syndromes|Mercury Poisoning, Inorganic|Mercury Poisoning, Neurologic|Mercury Poisoning, Organic|Mercury Psychosis|Minamata Disease|Nervous System Diseases, Mercury Induced|Nervous System Diseases, Mercury-Induced|Nervous System Mercurialism|Nervous System Poisoning, Mercury|Neuroanesthenia, Mercurial|Neurologic Mercurialism|Neurologic Mercury Poisoning|Neurotoxicity Syndrome, Mercury|Neurotoxicity Syndromes, Mercury|Organic Mercury Poisoning|Poisoning, Inorganic Mercury|Poisoning, Mercury, Nervous System|Poisoning, Mercury, Neurologic|Poisoning, Neurologic Mercury|Poisoning, Organic Mercury|Psychosis, Mercurial|Psychosis, Mercury|Syndrome, Mercury Neurotoxicity|Syndromes, Mercury Neurotoxicity|System Mercurialism, Nervous
D020261||Arsenic Poisoning|Arsenical Neurotoxicity Syndrome|Arsenical Neurotoxicity Syndromes|Arsenic Encephalopathies|Arsenic Encephalopathy|Arsenic-Induced Polyneuropathies|Arsenic Induced Polyneuropathy|Arsenic-Induced Polyneuropathy|Arsenic Poisoning, Inorganic|Arsenic Poisoning, Nervous System|Arsenic Poisoning, Organic|Arsenic Poisonings|Arsenic Poisonings, Inorganic|Arsenic Poisonings, Organic|Encephalopathies, Arsenic|Encephalopathy, Arsenic|Inorganic Arsenic Poisoning|Inorganic Arsenic Poisonings|Nervous System, Organic Arsenic Poisoning|Nervous System Poisoning, Arsenic|Neurotoxicity Syndrome, Arsenical|Neurotoxicity Syndromes, Arsenical|Organic Arsenic Poisoning|Organic Arsenic Poisoning, Nervous System|Organic Arsenic Poisonings|Poisoning, Arsenic|Poisoning, Arsenic, Nervous System|Poisoning, Inorganic Arsenic|Poisoning, Organic Arsenic|Poisonings, Arsenic|Poisonings, Inorganic Arsenic|Poisonings, Organic Arsenic|Polyneuropathy, Arsenic Induced|Polyneuropathy, Arsenic-Induced|Syndrome, Arsenical Neurotoxicity|Syndromes, Arsenical Neurotoxicity
D020260||Heavy Metal Poisoning, Nervous System|Poisoning, Heavy Metals, Nervous System
C563673|610370||Diarrhea 4, Malabsorptive, Congenital|DIAR4|Enteric Anendocrinosis
D049068||Plagiocephaly, Nonsynostotic|Deformational Plagiocephalies|Deformational Plagiocephaly|Nonsynostotic Plagiocephaly|Plagiocephalies, Deformational|Plagiocephalies, Positional|Plagiocephaly, Deformational|Plagiocephaly, Positional|Positional Plagiocephalies|Positional Plagiocephaly
D019292||Skull Base Neoplasms|Neoplasm, Skull Base|Neoplasms, Skull Base|Skull Base Neoplasm
C535761|256300||Nephrosis, congenital|CNF|Congenital nephrotic syndrome 1|Congenital nephrotic syndrome, Finnish type|Finnish congenital nephrosis|Nephrosis 1, congenital, Finnish type|NEPHROTIC SYNDROME, CONGENITAL|Nephrotic Syndrome, Early-Onset, Type 3|Nephrotic Syndrome, Idiopathic|Nephrotic Syndrome, Type 1|Nephrotic Syndrome, Type 2|Nephrotic Syndrome, Type 3|NPHS1|Nphs3
D062025||Organophosphate Poisoning|Organophosphate Poisonings|Organophosphorus Poisoning|Organothiophosphate Poisoning|Organothiophosphate Poisonings|Organothiophosphonate Poisoning|Organothiophosphonate Poisonings|Poisoning, Organophosphate|Poisoning, Organothiophosphate|Poisoning, Organothiophosphonate|Poisonings, Organophosphate|Poisonings, Organothiophosphate|Poisonings, Organothiophosphonate
D016112|146700||Ichthyosis Vulgaris|Dominant Ichthyosis Vulgaris|Ichthyosis Simplex|Ichthyosis Simplices|Ichthyosis Vulgaris, Dominant
D062026||Alice in Wonderland Syndrome
D020269||Alcoholic Neuropathy|Alcoholic Axonal Neuropathies|Alcoholic Axonal Neuropathy|Alcoholic Neuropathies|Alcoholic Polyneuritides|Alcoholic Polyneuritis|Alcoholic Polyneuropathies|Alcoholic Polyneuropathy|Alcohol-Induced Peripheral Neuropathies|Alcohol Induced Peripheral Neuropathy|Alcohol-Induced Peripheral Neuropathy|Alcohol-Induced Polyneuropathies|Alcohol Induced Polyneuropathy|Alcohol-Induced Polyneuropathy|Alcohol-Related Autonomic Polyneuropathies|Alcohol Related Autonomic Polyneuropathy|Alcohol-Related Autonomic Polyneuropathy|Alcohol-Related Polyneuropathies|Alcohol Related Polyneuropathy|Alcohol-Related Polyneuropathy|Autonomic Polyneuropathies, Alcohol-Related|Autonomic Polyneuropathy, Alcohol-Related|Axonal Neuropathies, Alcoholic|Axonal Neuropathy, Alcoholic|Neuropathies, Alcoholic|Neuropathies, Alcoholic Axonal|Neuropathies, Alcohol-Induced Peripheral|Neuropathy, Alcoholic|Neuropathy, Alcoholic Axonal|Neuropathy, Alcohol-Induced Peripheral|Peripheral Neuropathies, Alcohol-Induced|Peripheral Neuropathy, Alcohol Induced|Peripheral Neuropathy, Alcohol-Induced|Polyneuritides, Alcoholic|Polyneuritis, Alcoholic|Polyneuropathies, Alcoholic|Polyneuropathies, Alcohol-Induced|Polyneuropathies, Alcohol-Related|Polyneuropathies, Alcohol-Related Autonomic|Polyneuropathy, Alcoholic|Polyneuropathy, Alcohol-Induced|Polyneuropathy, Alcohol-Related|Polyneuropathy, Alcohol-Related Autonomic
D062027||Linear IgA Bullous Dermatosis|Chronic Bullous Disease of Childhood|Dermatoses, Linear IgA|Dermatoses, Linear IgA/IgG|Dermatosis, Linear IgA|Dermatosis, Linear IgA/IgG|Drug induced Linear IgA Bullous Dermatosis|Drug-induced Linear IgA Bullous Dermatosis|Drug induced Linear IgA Dermatosis|Drug-induced Linear IgA Dermatosis|IgA Dermatoses, Linear|IgA Dermatosis, Linear|IgA/IgG Dermatoses, Linear|IgA/IgG Dermatosis, Linear|Linear IgA Dermatoses|Linear IgA Dermatosis|Linear IgA IgG Bullous Dermatosis|Linear IgA/IgG Bullous Dermatosis|Linear IgA/IgG Dermatoses|Linear IgA/IgG Dermatosis
D020268||Alcohol-Induced Disorders, Nervous System|Alcohol Abuse, Nervous System|Alcohol Induced Disorders, Nervous System|Ethanol Induced Disorders, Nervous System|Ethanol-Induced Disorders, Nervous System|Ethanol Induced Nervous System Disorders|Ethanol-Induced Nervous System Disorders|Ethyl Alcohol Abuse Neurologic Syndromes|Nervous System Disorders, Ethanol Induced|Nervous System Disorders, Ethanol-Induced
D020267||MPTP Poisoning|MPTP Induced Degeneration of the Striatum|MPTP-Induced Degeneration of the Striatum|MPTP Induced Parkinsonism|MPTP-Induced Parkinsonism|MPTP Neurotoxicity Syndrome|MPTP Neurotoxicity Syndromes|Neurotoxicity Syndrome, MPTP|Neurotoxicity Syndromes, MPTP|Parkinsonism, MPTP-Induced|Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine|Poisoning, MPTP
C563439|600808||Enuresis, Nocturnal, 2|ENUR2
C580205||Isodicentric Chromosome 15 Syndrome|Duplication/Inversion 15q11|Idic(15)|Inv Dup(15)|Inverted Duplication 15|Isodicentric Chromosome 15|Non-Distal Tetrasomy 15q
C580202||Intranuclear Rod Myopathy|Intranuclear Nemaline Rod Myopathy|Nemaline Myopathy with Exclusively Intranuclear Rods
C538356|601224||Potocki-Shaffer syndrome|Chromosome 11p11.2 Deletion Syndrome|Defect11 Syndrome|Deletion of chromosome 11p11.2|Exostoses, Multiple, Type II|P11PDS|Proximal 11P deletion syndrome|PSS
D012512|612219||Sarcoma, Ewing|ASKIN TUMOR, INCLUDED|ES|Ewing Sarcoma|Ewing&apos;s Sarcoma|Ewings Sarcoma|Ewing&apos;s Tumor|Ewings Tumor|Ewing Tumor|NEUROEPITHELIOMA, PERIPHERAL, INCLUDED|PNE, INCLUDED|Sarcoma, Ewings|Sarcoma, Ewing&apos;s|Tumor, Ewing|Tumor, Ewing&apos;s
177000|D046351||Protoporphyria, Erythropoietic|Deficiencies, Ferrochelatase|Deficiencies, Heme Synthetase|Deficiency, Ferrochelatase|Deficiency, Heme Synthetase|EPP|Erythrohepatic Protoporphyria|Erythropoietic Protoporphyria|Erythropoietic Protoporphyrias|Ferrochelatase Deficiencies|Ferrochelatase Deficiency|Heme Synthetase Deficiencies|Heme Synthetase Deficiency|Protoporphyrias, Erythropoietic|Synthetase Deficiencies, Heme|Synthetase Deficiency, Heme
D020254||Tooth Ankylosis|Ankyloses, Dental|Ankyloses, Dentoalveolar|Ankyloses, Tooth|Ankylosis, Dental|Ankylosis, Dentoalveolar|Ankylosis of Teeth|Ankylosis, Tooth|Dental Ankyloses|Dental Ankylosis|Dentoalveolar Ankyloses|Dentoalveolar Ankylosis|Teeth Ankyloses|Teeth Ankylosis|Tooth Ankyloses
D020252||Gastric Antral Vascular Ectasia|Antral Vascular Ectasia|Antral Vascular Ectasias|Ectasia, Antral Vascular|Ectasias, Antral Vascular|Stomachs, Watermelon|Stomach, Watermelon|Vascular Ectasia, Antral|Vascular Ectasias, Antral|Watermelon Stomach|Watermelon Stomachs
D020250||Postoperative Nausea and Vomiting|Emeses, Postoperative|Emesis, Postoperative|Nausea and Vomiting, Postoperative|Nausea, Postoperative|PONV|Postoperative Emeses|Postoperative Emesis|Postoperative Nausea|Postoperative Vomiting|Vomiting, Postoperative
D019263||Dysthymic Disorder|Disorder, Dysthymic|Dysthymic Disorders
D020258||Neurotoxicity Syndromes|Encephalitides, Toxic|Encephalitis, Toxic|Encephalopathies, Toxic|Encephalopathy, Toxic|Nervous System Poisoning|Nervous System Poisonings|Neurotoxic Disorder|Neurotoxic Disorders|Neurotoxicity Syndrome|Neurotoxin Disease|Neurotoxin Diseases|Neurotoxin Disorder|Neurotoxin Disorders|Poisoning, Nervous System|Poisonings, Nervous System|Syndrome, Neurotoxicity|Syndromes, Neurotoxicity|Toxic Encephalitides|Toxic Encephalitis|Toxic Encephalopathies|Toxic Encephalopathy
D020257||Ventricular Remodeling|Cardiac Remodelings, Ventricular|Cardiac Remodeling, Ventricular|Left Ventricle Remodeling|Left Ventricle Remodelings|Left Ventricular Remodeling|Left Ventricular Remodelings|Myocardial Remodelings, Ventricular|Myocardial Remodeling, Ventricular|Remodeling, Left Ventricle|Remodeling, Left Ventricular|Remodelings, Left Ventricle|Remodelings, Left Ventricular|Remodelings, Ventricle|Remodelings, Ventricular|Remodelings, Ventricular Cardiac|Remodelings, Ventricular Myocardial|Remodeling, Ventricle|Remodeling, Ventricular|Remodeling, Ventricular Cardiac|Remodeling, Ventricular Myocardial|Ventricle Remodeling|Ventricle Remodeling, Left|Ventricle Remodelings|Ventricle Remodelings, Left|Ventricular Cardiac Remodeling|Ventricular Cardiac Remodelings|Ventricular Myocardial Remodeling|Ventricular Myocardial Remodelings|Ventricular Remodeling, Left|Ventricular Remodelings|Ventricular Remodelings, Left
C567209||Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities
D020256||Choroidal Neovascularization|Choroidal Neovascularizations|Choroid Neovascularization|Choroid Neovascularizations|Neovascularization, Choroid|Neovascularization, Choroidal
D020255||Vitreous Detachment|Detachment, Posterior Vitreous|Detachments, Posterior Vitreous|Detachments, Vitreous|Detachment, Vitreous|Posterior Vitreous Detachment|Posterior Vitreous Detachments|Vitreous Detachment, Posterior|Vitreous Detachments|Vitreous Detachments, Posterior
168600||PARKINSON DISEASE, LATE-ONSET|PARK|PD
C573023|151001||Lentiginosis Profusa|Lentiginosis, Diffuse|Lentiginosis, Generalized|Lentiginosis, Inherited Patterned|LENTIGINOSIS PROFUSA
168601||PARKINSON DISEASE 1, AUTOSOMAL DOMINANT|ATYPICAL PARKINSON DISEASE, INCLUDED|PARK1|PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY
612561||DIAMOND-BLACKFAN ANEMIA 6|AASE-SMITH SYNDROME II|DBA6
D007280||Disorders of Environmental Origin
C543241||Cardiomyopathy, fatal fetal, due to myocardial calcification|Myocardial calcifications resulting in intrauterine fetal death
D020243||Infarction, Anterior Cerebral Artery|ACA Infarction|ACA Infarctions|Anterior Cerebral Artery Infarction|Anterior Cerebral Artery Stroke|Anterior Cerebral Artery Syndrome|Artery Infarction, Heubner|Artery Infarction, Heubner&apos;s|Heubner Artery Infarction|Heubner&apos;s Artery Infarction|Heubners Artery Infarction|Infarction, ACA|Infarction, Anterior Cerebral Artery Circulation|Infarction, Anterior Cerebral Artery Distribution|Infarction, Heubner Artery|Infarction, Heubner&apos;s Artery|Infarctions, ACA|Stroke, Anterior Cerebral Artery|Syndrome, Anterior Cerebral Artery
D020242||Encephalomyelitis, Eastern Equine|Eastern Equine Encephalitides|Eastern Equine Encephalitis|Eastern Equine Encephalomyelitides|Eastern Equine Encephalomyelitis|Encephalitides, Eastern Equine|Encephalitis, Eastern Equine|Encephalomyelitides, Eastern Equine|Equine Encephalitides, Eastern|Equine Encephalitis, Eastern|Equine Encephalomyelitides, Eastern|Equine Encephalomyelitis, Eastern
D020241||Encephalomyelitis, Western Equine|Encephalitis, Western Equine|Equine Encephalitis, Western|Western Equine Encephalitis|Western Equine Encephalomyelitis
C567219||Deafness, Autosomal Recessive 36, Without Vestibular Involvement
D020240||Apraxia, Ideomotor|Apraxia, Classic|Apraxia, Ideokinetic|Apraxia, Limb Kinetic|Apraxias, Classic|Apraxias, Ideokinetic|Apraxias, Ideomotor|Apraxias, Limb Kinetic|Apraxias, Transcortical|Apraxia, Transcortical|Classic Apraxia|Classic Apraxias|Dyspraxia, Ideomotor|Dyspraxias, Ideomotor|Ideokinetic Apraxia|Ideokinetic Apraxias|Ideomotor Apraxia|Ideomotor Apraxias|Ideomotor Dyspraxia|Ideomotor Dyspraxias|Kinetic Apraxia, Limb|Kinetic Apraxias, Limb|Limb Kinetic Apraxia|Limb Kinetic Apraxias|Transcortical Apraxia|Transcortical Apraxias
C563691|609889||Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
D063371||Myringosclerosis|Myringoscleroses|Tympanoscleroses|Tympanosclerosis
182920||MYOPATHY, SPHEROID BODY
C565260|606082||Goiter, Multinodular 3|MNG3
118450|D016738||Alagille Syndrome|AHD|Alagille&apos;s Syndrome|Alagilles Syndrome|ALAGILLE SYNDROME|Alagille Syndrome 1|Alagille Syndrome 2|Alagille Watson Syndrome|Alagille-Watson Syndrome|ALGS|ALGS1|ALGS2|Arteriohepatic Dysplasia|Arteriohepatic Dysplasia (AHD)|AWS|Cardiovertebral Syndrome|Cholestasis with Peripheral Pulmonary Stenosis|Ductular Hypoplasia, Hepatic|Dysplasia, Arteriohepatic|Dysplasia, Arteriohepatic (AHD)|Hepatic Ductular Hypoplasia|Hepatic Ductular Hypoplasia, Syndromatic|Hepatofacioneurocardiovertebral Syndrome|Hypoplasia, Hepatic Ductular|Paucity of Interlobular Bile Ducts|Syndrome, Alagille|Syndrome, Alagille&apos;s|Syndrome, Alagille Watson|Syndrome, Alagille-Watson|Syndrome, Cardiovertebral|Syndrome, Hepatofacioneurocardiovertebral|Syndrome, Watson Alagille|syndrome, Watson-Miller|Syndrome, Watson Miller|Watson Alagille Syndrome|Watson-Miller syndrome|Watson Miller Syndrome
D052556|257220||Niemann-Pick Disease, Type C|Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia|NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D, INCLUDED|Niemann Pick Disease, Chronic Neuronopathic Form|Niemann-Pick Disease, Chronic Neuronopathic Form|Niemann Pick Disease, Nova Scotian|Niemann-Pick Disease, Nova Scotian|NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE, INCLUDED|Niemann Pick disease, Subacute Juvenile Form|Niemann-Pick disease, Subacute Juvenile Form|Niemann Pick Disease, Type C|NIEMANN-PICK DISEASE, TYPE C|Niemann-Pick Disease, Type C1|Niemann Pick Disease Type D|Niemann Pick Disease, Type D|Niemann-Pick Disease Type D|Niemann-Pick Disease, Type D|Niemann Pick Disease with Cholesterol Esterification Block|Niemann-Pick Disease with Cholesterol Esterification Block|Niemann Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann Pick&apos;s Disease Type C|Niemann-Pick&apos;s Disease Type C|Niemann Pick&apos;s Disease Type D|Niemann-Pick&apos;s Disease Type D|Nova Scotia Niemann Pick Disease (Type D)|Nova Scotia Niemann-Pick Disease (Type D)|Nova Scotia (Type D) Form of Niemann-Pick Disease|NPC|NPC1
613884||CHROMOSOME 13q14 DELETION SYNDROME|CHROMOSOME 13q DELETION SYNDROME
D020246||Venous Thrombosis|Deep Vein Thromboses|Deep-Vein Thromboses|Deep Vein Thrombosis|Deep-Vein Thrombosis|Deep Venous Thromboses|Deep-Venous Thromboses|Deep Venous Thrombosis|Deep-Venous Thrombosis|Phlebothromboses|Phlebothrombosis|Thromboses, Deep Vein|Thromboses, Deep-Vein|Thromboses, Deep Venous|Thromboses, Deep-Venous|Thromboses, Venous|Thrombosis, Deep Vein|Thrombosis, Deep-Vein|Thrombosis, Deep Venous|Thrombosis, Deep-Venous|Thrombosis, Venous|Vein Thromboses, Deep|Vein Thrombosis, Deep|Venous Thromboses|Venous Thromboses, Deep|Venous Thrombosis, Deep
D020244||Infarction, Middle Cerebral Artery|Cerebral Infarction, Middle Cerebral Artery|Embolic Infarction, Middle Cerebral Artery|Embolus, Middle Cerebral Artery|Left Middle Cerebral Artery Infarction|MCA Infarction|Middle Cerebral Artery Circulation Infarction|Middle Cerebral Artery Embolic Infarction|Middle Cerebral Artery Embolus|Middle Cerebral Artery Infarction|Middle Cerebral Artery Occlusion|Middle Cerebral Artery Stroke|Middle Cerebral Artery Syndrome|Middle Cerebral Artery Thrombosis|Middle Cerebral Artery Thrombotic Infarction|Occlusion, Middle Cerebral Artery|Right Middle Cerebral Artery Infarction|Stroke, Middle Cerebral Artery|Thrombosis, Middle Cerebral Artery|Thrombotic Infarction, Middle Cerebral Artery
D007299||Insect Bites and Stings|Bite, Insect|Bites, Insect|Insect Bite|Insect Bites|Insect Sting|Insect Stings|Sting, Insect|Stings, Insect
612555||BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2|BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED|BROVCA2|OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED
C536911|155240||Familial medullary thyroid carcinoma|FMTC|Medullary thyroid cancer, familial|MTC|MTC1|Thyroid cancer, familial medullary|Thyroid Carcinoma, Familial Medullary
612551||FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO|END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED|FSGS4
D050072||White Heifer Disease|Disease, White Heifer
201250||ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE|ACROMESOMELIC DWARFISM|AMDH
C567220||Kallmann Syndrome 5
C538261|608583||Atrial fibrillation, familial 1|Atfb1|Atrial fibrillation, autosomal dominant|Atrial Fibrillation, Familial, 1|Autosomal dominant atrial fibrillation
C567221||Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern
D013584|300813||Sarcoma, Synovial|Sarcomas, Synovial|Synovial Sarcoma|Synovial Sarcomas|Synovioma|Synoviomas
D020232||Kluver-Bucy Syndrome|Kluver Bucy Syndrome|Syndrome, Kluver-Bucy|Temporal Lobectomy Behavior Syndrome
155310||VISCERAL MYOPATHY|BERDON SYNDROME|INFANTILE VISCERAL MYOPATHY|MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME|MEGADUODENUM AND/OR MEGACYSTIS|MMIH|PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL|VSCM
C566584|602086||Arrhythmogenic Right Ventricular Dysplasia, Familial, 3|Arrhythmogenic Right Ventricular Cardiomyopathy 3|ARVC3|ARVD3
D020230||Serotonin Syndrome|Serotonin Syndromes|Syndrome, Serotonin|Syndromes, Serotonin
D020238||Prosopagnosia|Acquired Prosopagnosia|Acquired Prosopagnosias|Agnosia, Facial Recognition|Agnosia for Face|Agnosia for Faces|Agnosias, Facial Recognition|Developmental Prosopagnosia|Developmental Prosopagnosias|Facial Recognition Agnosia|Facial Recognition Agnosias|Prosopagnosia, Acquired|Prosopagnosia, Developmental|Prosopagnosias|Prosopagnosias, Acquired|Prosopagnosias, Developmental|Recognition Agnosia, Facial|Recognition Agnosias, Facial
D020237||Alexia, Pure|Agnosias, Visual Verbal|Agnosia, Visual Verbal|Agraphia, Alexia Without|Agraphias, Alexia Without|Alexias, Pure|Alexia Syndrome Without Agraphia|Alexia Without Agraphia|Alexia Without Agraphias|Blindnesses, Pure Word|Blindness, Pure Word|Pure Alexia|Pure Alexias|Pure Alexia Without Agraphia|Pure Word Blindness|Pure Word Blindnesses|Verbal Agnosias, Visual|Verbal Agnosia, Visual|Visual Verbal Agnosia|Visual Verbal Agnosias|Without Agraphia, Alexia|Without Agraphias, Alexia|Word Blindnesses, Pure|Word Blindness, Pure
D020236||Amnesia, Transient Global|Global Amnesia, Transient|TGAs (Transient Global Amnesia)|TGA (Transient Global Amnesia)|Transient Global Amnesia
C565557|230450||Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
266140|C563004||Pyropoikilocytosis, Hereditary|HPP
D020235||Gait Apraxia|Apraxia, Bruns&apos; Gait|Apraxia, Frontal Gait|Apraxia, Gait|Apraxia of Gait|Apraxias, Bruns&apos; Gait|Apraxias, Frontal Gait|Apraxias, Gait|Bruns Apraxia, Gait|Bruns&apos; Apraxia, Gait|Bruns&apos; Apraxia of Gait|Bruns Gait Apraxia|Bruns&apos; Gait Apraxia|Bruns&apos; Gait Apraxias|Dyspraxia of Gait|Frontal Gait Apraxia|Frontal Gait Apraxias|Gait Apraxia, Bruns&apos;|Gait Apraxia, Frontal|Gait Apraxias|Gait Apraxias, Bruns&apos;|Gait Apraxias, Frontal|Gait Dyspraxia|Gait Dyspraxias
D008589||Meningococcal Infections|Infection, Meningococcal|Infections, Meningococcal|Meningococcal Infection
D020234||Gait Ataxia|Ataxia, Cerebellar Gait|Ataxia, Gait|Ataxia of Gait|Ataxias, Cerebellar Gait|Ataxia, Sensory Gait|Ataxias, Gait|Ataxias, Sensory Gait|Cerebellar Gait|Cerebellar Gait Ataxia|Cerebellar Gait Ataxias|Cerebellar Gaits|Gait Ataxia, Cerebellar|Gait Ataxias|Gait Ataxias, Cerebellar|Gait Ataxia, Sensory|Gait Ataxias, Sensory|Gait, Cerebellar|Gaits, Cerebellar|Sensory Gait Ataxia|Sensory Gait Ataxias
D015209|613806||Cholangitis, Sclerosing|Cholangiitides, Sclerosing|Cholangiitis, Sclerosing|Cholangitides, Primary Sclerosing|Cholangitides, Sclerosing|Cholangitis, Primary Sclerosing|Primary Sclerosing Cholangitides|Primary Sclerosing Cholangitis|PSC|Sclerosing Cholangiitides|Sclerosing Cholangiitis|Sclerosing Cholangitides|Sclerosing Cholangitides, Primary|Sclerosing Cholangitis|Sclerosing Cholangitis, Primary
D008588||Meningocele|Acquired Meningocele|Acquired Meningoceles|Herniation, Meningeal|Herniation of Meninges|Herniations, Meningeal|Meningeal Herniation|Meningeal Herniations|Meninges Herniation|Meninges Herniations|Meningocele, Acquired|Meningocele, Rudimentary|Meningoceles|Meningoceles, Acquired|Meningoceles, Rudimentary|Meningoceles, Traumatic|Meningocele, Traumatic|Rudimentary Meningocele|Rudimentary Meningoceles|Traumatic Meningocele|Traumatic Meningoceles
D020233||Gait Disorders, Neurologic|Ambulation Disorder, Neurologic|Ambulation Disorders, Neurologic|Athetotic Gait|Broadened Gait|Charcot Gait|Charcot Gaits|Charcot&apos;s Gait|Charcots Gait|Drop Foot Gait|Duck Gait|Festinating Gait|Foot Gait, Drop|Frontal Gait|Gait, Athetotic|Gait, Broadened|Gait, Charcot|Gait, Charcot&apos;s|Gait Disorder, Neurologic|Gait Disorder, Sensorimotor|Gait Disorders, Sensorimotor|Gait, Drop Foot|Gait, Duck|Gait Dysfunction, Neurologic|Gait Dysfunctions, Neurologic|Gait, Festinating|Gait, Frontal|Gait, Hemiplegic|Gait, Hysterical|Gait, Reeling|Gait, Rigid|Gaits, Charcot|Gait, Scissors|Gait, Shuffling|Gait, Spastic|Gait, Stumbling|Gait, Unsteady|Gait, Widebased|Hemiplegic Gait|Hysterical Gait|Locomotion Disorder, Neurologic|Locomotion Disorders, Neurologic|Marche a Petit Pas|Neurologic Ambulation Disorder|Neurologic Ambulation Disorders|Neurologic Gait Disorder|Neurologic Gait Disorders|Neurologic Gait Dysfunction|Neurologic Gait Dysfunctions|Neurologic Locomotion Disorder|Neurologic Locomotion Disorders|Rapid Fatigue of Gait|Reeling Gait|Rigid Gait|Scissors Gait|Sensorimotor Gait Disorder|Sensorimotor Gait Disorders|Shuffling Gait|Shuffling Gaits|Spastic Gait|Stumbling Gait|Unsteady Gait|Widebased Gait
D008587||Meningitis, Viral|Meningitides, Viral|Viral Meningitides|Viral Meningitis
C567802|613055||Atrial Fibrillation, Familial, 8|ATFB8
D008595||Menorrhagia|Hypermenorrhea
D008594||Menopause, Premature|Premature Menopause
612542||VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1|B12QTL1
D008591||Meningomyelocele|Acquired Meningomyelocele|Acquired Meningomyeloceles|Acquired Myelomeningocele|Acquired Myelomeningoceles|Meningomyelocele, Acquired|Meningomyeloceles|Meningomyeloceles, Acquired|Myelocele|Myeloceles|Myelomeningocele|Myelomeningocele, Acquired|Myelomeningoceles|Myelomeningoceles, Acquired
D008590||Meningoencephalitis|Cerebromeningitides|Cerebromeningitis|Encephalomeningitides|Encephalomeningitis|Meningoencephalitides
C536194|130000||Ehlers-Danlos syndrome type 1|EDS1|EDS I|Ehlers-Danlos syndrome, classic severe form|Ehlers-Danlos syndrome, Gravis type|Ehlers-Danlos Syndrome, Severe Classic Type|Ehlers-Danlos Syndrome, Type I
C567715|613180||Polymicrogyria With Optic Nerve Hypoplasia
C563933|600496||Maturity-Onset Diabetes of the Young, Type 3|MODY3|MODY, Type 3
D020221||Optic Nerve Injuries|Avulsion, Optic Nerve|Avulsions, Optic Nerve|Contusion, Optic Nerve|Contusions, Optic Nerve|Cranial Nerve II Injuries|Injuries, Optic Nerve|Injury, Optic Nerve|Nerve Avulsion, Optic|Nerve Avulsions, Optic|Nerve Contusion, Optic|Nerve Contusions, Optic|Nerve Injuries, Optic|Nerve Injury, Optic|Nerve Transection, Optic|Nerve Transections, Optic|Nerve Trauma, Optic|Nerve Traumas, Optic|Neuropathies, Traumatic Optic|Neuropathy, Traumatic Optic|Optic Nerve Avulsion|Optic Nerve Avulsions|Optic Nerve Contusion|Optic Nerve Contusions|Optic Nerve Injury|Optic Nerve Transection|Optic Nerve Transections|Optic Nerve Trauma|Optic Nerve Traumas|Optic Neuropathies, Traumatic|Optic Neuropathy, Traumatic|Second Cranial Nerve Injuries|Second Cranial Nerve Trauma|Transection, Optic Nerve|Transections, Optic Nerve|Trauma, Optic Nerve|Trauma, Second Cranial Nerve|Traumas, Optic Nerve|Traumatic Optic Neuropathies|Traumatic Optic Neuropathy
D020220||Facial Nerve Injuries|Avulsion, Facial Nerve|Avulsions, Facial Nerve|Cranial Nerve VII Injuries|Facial Nerve Avulsion|Facial Nerve Avulsions|Facial Nerve Injury|Facial Nerve Trauma|Facial Nerve Traumas|Facial Neuropathies, Traumatic|Facial Neuropathy, Traumatic|Injuries, Cranial Nerve VII|Injuries, Facial Nerve|Injuries, Seventh Cranial Nerve|Injury, Facial Nerve|Nerve Avulsion, Facial|Nerve Avulsions, Facial|Nerve Injuries, Facial|Nerve Injury, Facial|Nerve Trauma, Facial|Nerve Traumas, Facial|Neuropathies, Traumatic Facial|Neuropathy, Traumatic Facial|Seventh Cranial Nerve Injuries|Trauma, Facial Nerve|Traumas, Facial Nerve|Traumatic Facial Neuropathies|Traumatic Facial Neuropathy
C567924|308350||Epileptic Encephalopathy, Early Infantile, 1|EIEE1|Infantile Epileptic-Dyskinetic Encephalopathy|Infantile Spasm Syndrome, X-Linked 1|ISSX1|OHTAHARA SYNDROME, X-LINKED|West Syndrome, X-Linked|XMESID
C538275|240300||Autoimmune polyendocrinopathy syndrome, type 1|APECED|APS1|APS I|Autoimmune polyendocrine syndrome, type 1|AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA|AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY|Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant|Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia|AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I|Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis|HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT, INCLUDED|PGA I|POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I|Polyglandular Deficiency Syndrome, Persian-Jewish Type|POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED
604116|C565827||Cone-Rod Dystrophy 3|CORD3
C567196|612713||Kahrizi Syndrome|KHRZ|Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive
D020227||Lateral Sinus Thrombosis|Lateral Sinus Thrombophlebitis|Lateral Sinus Thromboses|Phlebitis, Lateral Sinus, Septic|Septic Phlebitis, Lateral Sinus|Sinus Thromboses, Transverse|Thrombophlebitis, Lateral Sinus|Thromboses, Lateral Sinus|Thromboses, Transverse Sinus|Thrombosis, Lateral Sinus|Thrombosis, Transverse Sinus|Transverse Sinus Thromboses|Transverse Sinus Thrombosis
D020226||Cavernous Sinus Thrombosis|Cavernous Sinus, Phlebitis, Septic|Cavernous Sinus Thrombophlebitides|Cavernous Sinus Thrombophlebitis|Cavernous Sinus Thromboses|Caverous Sinus Septic Phlebitis|Phlebitis, Cavernous Sinus, Septic|Septic Phlebitis, Cavernous Sinus|Sinus Thrombophlebitides, Cavernous|Sinus Thrombophlebitis, Cavernous|Sinus Thromboses, Cavernous|Sinus Thrombosis, Cavernous|Thrombophlebitides, Cavernous Sinus|Thrombophlebitis, Cavernous Sinus|Thromboses, Cavernous Sinus|Thrombosis, Cavernous Sinus
D020225||Sagittal Sinus Thrombosis|Phlebitis, Sagittal Sinus, Septic|Sagittal Sinus Septic Phlebitis|Sagittal Sinus Thrombophlebitis|Sagittal Sinus Thromboses|Septic Phlebitis, Sagittal Sinus|Sinus Thrombophlebitis, Sagittal|Sinus Thromboses, Sagittal|Sinus Thrombosis, Sagittal|Thrombophlebitis, Sagittal Sinus|Thromboses, Sagittal Sinus|Thrombosis, Sagittal Sinus
D008599||Menstruation Disturbances|Disorder, Menstruation|Disorders, Menstruation|Disturbance, Menstruation|Disturbances, Menstruation|Hypomenorrhea|Hypomenorrheas|Menstruation Disorder|Menstruation Disorders|Menstruation Disturbance|Menstruation, Retrograde|Menstruations, Retrograde|Polymenorrhea|Polymenorrheas|Retrograde Menstruation|Retrograde Menstruations
D020222||Abducens Nerve Injury|Abducens Nerve Injuries|Abducens Nerve Trauma|Abducens Nerve Traumas|Abducens Neuropathies, Traumatic|Abducens Neuropathy, Traumatic|Cranial Nerve VI Injury|Injuries, Abducens Nerve|Injury, Abducens Nerve|Injury, Cranial Nerve VI|Injury, Sixth Cranial Nerve|Nerve Injuries, Abducens|Nerve Injury, Abducens|Nerve Trauma, Abducens|Nerve Traumas, Abducens|Sixth Cranial Nerve Injuries|Sixth Cranial Nerve Injury|Sixth-Nerve Palsies, Traumatic|Sixth Nerve Palsy, Traumatic|Sixth-Nerve Palsy, Traumatic|Sixth Nerve Trauma|Sixth-Nerve Trauma|Sixth-Nerve Traumas|Trauma, Abducens Nerve|Traumas, Abducens Nerve|Trauma, Sixth-Nerve|Traumas, Sixth-Nerve|Traumatic Abducens Neuropathies|Traumatic Abducens Neuropathy|Traumatic Sixth-Nerve Palsies|Traumatic Sixth Nerve Palsy|Traumatic Sixth-Nerve Palsy
D050090||Ovotesticular Disorders of Sex Development|46,XX Gonadal Dysgenesis, Complete, Sry-Positive|46,XX True Hermaphroditism, Sry-Positive|DSD, Ovotesticular|DSDs, Ovotesticular|Familial True Hermaphroditism|Familial True Hermaphroditisms|Familial XX True Hermaphroditism|Hermaphroditism, Familial True|Hermaphroditisms, Familial True|Hermaphroditisms, True|Hermaphroditism, True|Ovotesticular Disorder Of Sex Development|Ovotesticular DSD|Ovotesticular DSDs|True Hermaphroditism|True Hermaphroditism, Familial|True Hermaphroditisms|True Hermaphroditisms, Familial|XX Male Syndrome, Sry Positive|XX Male Syndrome, Sry-Positive
613857||OROFACIAL CLEFT 13|OFC13
166200|D010013||Osteogenesis Imperfecta|Brittle Bone Disease|Disease, Lobstein|Disease, Lobstein&apos;s|Fragilitas Ossium|Lobstein Disease|Lobstein&apos;s Disease|Lobsteins Disease|OI1|OI, TYPE I|Ossiums, Fragilitas|Osteogenesis Imperfecta Tarda|Osteogenesis Imperfecta Tardas|Osteogenesis Imperfecta, Type 1|Osteogenesis Imperfecta, Type I|Osteogenesis Imperfecta with Blue Sclerae|OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE OSTEOPENIC NONFRACTURE SYNDROME, INCLUDED
C567144|206100||Anemia, Hypochromic Microcytic, With Iron Overload|AHMIO1|ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
C567200||Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells|CD79B Deficiency|IgB Deficiency
D019247||HIV Wasting Syndrome|AIDS Wasting Syndrome|HIV Wasting Disease|Slim Disease|Wasting Disease, HIV|Wasting Syndrome, AIDS|Wasting Syndrome, HIV
C566578|602096||Alzheimer Disease 5|AD5|Alzheimer Disease, Familial, 5
C564665|606766||Azoospermia, Nonobstructive|SPERMATOGENIC FAILURE 3|SPGF3
604004|C536141||Megalencephalic leukoencephalopathy with subcortical cysts|Infantile Leukoencephalopathy and Megalencephaly|Leukoencephalopathy with Swelling and A Discrepantly Mild Course|Leukoencephalopathy with swelling and cysts|LVM|MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1|Megalencephaly-cystic leukodystrophy|MLC1|Vacuolating Leukoencephalopathy|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|VAN DER KNAAP DISEASE|Van Der Knapp Disease|VL
D020331||Mobius Syndrome|Congenital Oculofacial Paralysis, Moebius|Congenital Ophthalmoplegia and Facial Paresis|M&#246;bius Sequence|Mobius Syndromes|Moebius Congenital Oculofacial Paralysis|Moebius Sequence|Moebius Spectrum|Moebius Syndrome|Moebius Syndromes
D020330||Bell Palsy|Acute Idiopathic Facial Neuropathy|Acute Inflammatory Facial Neuropathy|Bell Palsies|Bell&apos;s Palsies|Bell&apos;s Palsy|Bells Palsy|Facial Neuropathy, Idiopathic Acute|Facial Neuropathy, Inflammatory, Acute|Facial Paralyses, Herpetic|Facial Paralyses, Idiopathic|Facial Paralysis, Herpetic|Facial Paralysis, Idiopathic|Herpetic Facial Paralyses|Herpetic Facial Paralysis|Idiopathic Acute Facial Neuropathy|Idiopathic Facial Paralyses|Idiopathic Facial Paralysis|Inflammatory Facial Neuropathy, Acute|Palsies, Bell|Palsies, Bell&apos;s|Palsy, Bell|Palsy, Bell&apos;s|Paralyses, Herpetic Facial|Paralyses, Idiopathic Facial|Paralysis, Herpetic Facial|Paralysis, Idiopathic Facial
C567524||Nevus Flammeus of Nape of Neck|Erythema Nuchae|Unna Nevus
C536150|132800||Keratoacanthoma familial|Epithelioma, self-healing squamous, 1|ESS1, FORMERLY|Ferguson-Smith Type epithelioma|MSSE|Multiple self-healing squamous epithelioma|MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
D020339||Optic Nerve Glioma|Adult Optic Nerve Glioma|Astrocytoma, Malignant, Optic Nerve|Childhood Optic Nerve Glioma|Glioma, Optic|Glioma, Optic Nerve|Glioma, Optic Nerve, Adult|Glioma, Optic Nerve, Childhood|Gliomas, Optic|Gliomas, Optic Nerve|Malignant Astrocytoma, Optic Nerve|Malignant Optic Nerve Astrocytoma|Optic Glioma|Optic Gliomas|Optic Nerve Glioma, Adult|Optic Nerve Glioma, Childhood|Optic Nerve Gliomas|Optic Nerve, Malignant Astrocytoma
D020338||Vestibular Neuronitis|Acute Peripheral Vestibulopathies|Acute Peripheral Vestibulopathy|Acute Vestibular Neuritides|Acute Vestibular Neuritis|Epidemic Neurolabyrinthitides|Epidemic Neurolabyrinthitis|Episodic Recurrent Vertigo|Episodic Recurrent Vertigos|Inflammations, Vestibular Nerve|Inflammation, Vestibular Nerve|Nerve Inflammations, Vestibular|Nerve Inflammation, Vestibular|Nerve Neuritides, Vestibular|Nerve Neuritis, Vestibular|Neuritides, Acute Vestibular|Neuritides, Recurrent Vestibular|Neuritides, Subacute Vestibular|Neuritides, Vestibular|Neuritides, Vestibular Nerve|Neuritis, Acute Vestibular|Neuritis, Recurrent Vestibular|Neuritis, Subacute Vestibular|Neuritis, Vestibular|Neuritis, Vestibular Nerve|Neurolabyrinthitides, Epidemic|Neurolabyrinthitis, Epidemic|Neuronitides, Vestibular|Neuronitis, Vestibular|Neuropathies, Vestibular|Neuropathy, Vestibular|Peripheral Vestibulopathies, Acute|Peripheral Vestibulopathy, Acute|Recurrent Vertigo, Episodic|Recurrent Vertigos, Episodic|Recurrent Vestibular Neuritides|Recurrent Vestibular Neuritis|Recurrent Vestibulopathies|Recurrent Vestibulopathy|Subacute Vestibular Neuritides|Subacute Vestibular Neuritis|Vertigo, Episodic Recurrent|Vertigos, Episodic Recurrent|Vestibular Nerve Inflammation|Vestibular Nerve Inflammations|Vestibular Nerve Neuritides|Vestibular Nerve Neuritis|Vestibular Neuritides|Vestibular Neuritides, Acute|Vestibular Neuritides, Recurrent|Vestibular Neuritides, Subacute|Vestibular Neuritis|Vestibular Neuritis, Acute|Vestibular Neuritis, Recurrent|Vestibular Neuritis, Subacute|Vestibular Neuronitides|Vestibular Neuropathies|Vestibular Neuropathy|Vestibulopathies, Acute Peripheral|Vestibulopathies, Recurrent|Vestibulopathy, Acute Peripheral|Vestibulopathy, Recurrent
D006029||Glycosuria
D020336||Paraparesis, Spastic|Lower Extremity Weakness, Spastic|Parapareses, Spastic|Spastic Lower Extremity Weakness|Spastic Parapareses|Spastic Paraparesis
D020335||Paraparesis|Cerebral Paraparesis|Chronic Progressive Paraparesis|Hypotonic Paraparesis|Parapareses|Paraparesis, Cerebral|Paraparesis, Chronic Progressive|Paraparesis, Hypotonic|Paraparesis, Spinal|Progressive Paraparesis, Chronic|Spinal Paraparesis
C567528||Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
D020333||Tolosa-Hunt Syndrome|Tolosa Hunt Syndrome
D019339||Port-Wine Stain|Nevus Flammeus|Port Wine Stain|Port-Wine Stains|Stain, Port-Wine|Stains, Port-Wine
C563444|600792||Deafness, Autosomal Recessive 5|DFNB5|Neurosensory Nonsyndromic Recessive Deafness 5|NSRD5
C536360|608542||Aneurysm, intracranial berry, 2|ANIB2
D019337||Hematologic Neoplasms|Hematological Malignancies|Hematological Malignancy|Hematological Neoplasm|Hematological Neoplasms|Hematologic Malignancies|Hematologic Malignancy|Hematologic Neoplasm|Hematopoietic Malignancies|Hematopoietic Malignancy|Hematopoietic Neoplasm|Hematopoietic Neoplasms|Malignancies, Hematologic|Malignancies, Hematological|Malignancies, Hematopoietic|Malignancy, Hematologic|Malignancy, Hematological|Malignancy, Hematopoietic|Neoplasm, Hematologic|Neoplasm, Hematological|Neoplasm, Hematopoietic|Neoplasms, Hematologic|Neoplasms, Hematological|Neoplasms, Hematopoietic
194071|C536853||Familial Wilms tumor 2|WILMS TUMOR 2|WT2
C566431|610599||Retinitis Pigmentosa 36|RP36
C566204||Brachydactyly, Long-Thumb Type
C567535||Megalencephaly
C566206||Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
D019351||Rubulavirus Infections|Infection, Rubulavirus|Infections, Rubulavirus|Rubulavirus Infection
D019350||Astroviridae Infections|Astroviridae Infection|Infection, Astroviridae|Infections, Astroviridae
C567533||Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency
D020324||Amnesia, Anterograde|Amnesia, Post Ictal|Amnesia, Post-Ictal|Amnesias, Anterograde|Amnesias, Post-Ictal|Anterograde Amnesia|Anterograde Amnesias|Anterograde Memory Loss|Anterograde Memory Losses|Losses, Post-Ictal Memory|Loss, Post-Ictal Memory|Memory Loss, Anterograde|Memory Losses, Anterograde|Memory Losses, Post-Ictal|Memory Loss, Post-Ictal|Post-Ictal Amnesia|Post-Ictal Amnesias|Post Ictal Memory Loss|Post-Ictal Memory Loss|Post-Ictal Memory Losses
D020323||Tics|Chorea, Habit|Choreas, Habit|Gestural Tic|Gestural Tics|Habit Chorea|Habit Choreas|Habit Spasm|Habit Spasms|Habituation Spasm|Habituation Spasms|Motor Tic|Motor Tics|Spasm, Habit|Spasm, Habituation|Spasms, Habit|Spasms, Habituation|Tic|Tic, Gestural|Tic, Motor|Tics, Gestural|Tics, Motor|Tics, Transient|Tics, Vocal|Tic, Transient|Tic, Vocal|Transient Tic|Transient Tics|Vocal Tic|Vocal Tics
D006044||Goiter, Nodular|Goiters, Nodular|Nodular Goiter|Nodular Goiters
D006045||Goiter, Substernal|Goiter, Intrathoracic|Goiters, Intrathoracic|Goiters, Substernal|Intrathoracic Goiter|Intrathoracic Goiters|Substernal Goiter|Substernal Goiters
C567406|612161||Aneurysm, Intracranial Berry, 7|ANIB7
D056730|180860||Silver-Russell Syndrome|Dwarfism, Silver Russell|Dwarfism, Silver-Russell|RSS|Russell Silver Syndrome|Russell-Silver Syndrome|Silver Russell Dwarfism|Silver-Russell Dwarfism|Silver Russell Syndrome|SRS|Syndrome, Russell Silver|Syndrome, Silver-Russell
D006042||Goiter|Goiters
D006043||Goiter, Endemic|Endemic Goiter|Endemic Goiters|Goiters, Endemic
192200|D014648||Varicose Veins|Varices|Varicose Vein|Varix|Veins, Varicose|Vein, Varicose
C536339|175900||Porokeratosis, disseminated superficial actinic 1|DSAP|DSAP1|POROK3|POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE|Porokeratosis, Disseminated Superficial Actinic, 1
C580500||Trisomy 18|Complete Trisomy 18 Syndrome|Edwards Syndrome|Trisomy 18 Syndrome|Trisomy E Syndrome
D020329||Essential Tremor|Benign Essential Tremor|Benign Essential Tremors|Essential Tremor, Benign|Essential Tremors|Essential Tremors, Benign|Familial Tremor|Familial Tremors|Hereditary Essential Tremor|Tremor, Benign Essential|Tremor, Essential|Tremor, Familial|Tremors, Benign Essential|Tremors, Essential|Tremors, Familial
C562769|274700||Thyroid Dyshormonogenesis 3|Hypothyroidism, Congenital, due to Dyshormonogenesis, 3|TDH3|Thyroid Hormonogenesis, Genetic Defect in, 3
607965||SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1|SLEN1
D019349||Roseolovirus Infections|Infection, Roseolovirus|Infections, Roseolovirus|Roseolovirus Infection
606353|C536416||Primary lateral sclerosis juvenile|Juvenile Primary Lateral Sclerosis|PLSJ|PLS, JUVENILE|Primary Lateral Sclerosis, Juvenile
257980|C537742||Odontoonychodermal dysplasia|OODD
D006467|306700||Hemophilia A|As, Autosomal Hemophilia|Autosomal Hemophilia A|Autosomal Hemophilia As|Classic Hemophilia|Classic Hemophilias|Congenital Hemophilia A|Congenital Hemophilia As|Deficiency, Factor VIII|Factor 8 Deficiency, Congenital|Factor VIII Deficiency|Factor VIII Deficiency, Congenital|Haemophilia|HEMA|Hemophilia|Hemophilia A, Autosomal|Hemophilia A, Congenital|Hemophilia As|Hemophilia As, Autosomal|Hemophilia As, Congenital|Hemophilia, Classic|Hemophilias, Classic
C566210||Rh-Null Disease, Amorph Type
607967||SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3|SLEN3
607966||SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2|SLEN2
D019320||Embolism, Paradoxical|Crossed Embolism|Crossed Embolisms|Embolism, Crossed|Embolisms, Crossed|Embolisms, Paradoxical|Paradoxical Embolism|Paradoxical Embolisms
C567503||Mesomelic Dysplasia, Camera Type
C535741|603147||Congenital disorder of glycosylation type 1C|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY|Carbohydrate-deficient glycoprotein syndrome type V|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY|CDG1C|CDGIc|CDG Ic|CDGS5, FORMERLY|Congenital Disorder Of Glycosylation, Type Ic
607949||MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1|MTBS1
607948||MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO|MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED
C566600|601952||Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma|KLICK Syndrome
C567501||Aortic Aneurysm, Familial Abdominal 3|Aaa3
D006008||Glycogen Storage Disease|Disease, Glycogen Storage|Diseases, Glycogen Storage|Glycogenoses|Glycogenosis|Glycogen Storage Diseases|Storage Disease, Glycogen|Storage Diseases, Glycogen
C567469|300717||Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
D020315||Latex Hypersensitivity|Allergies, Latex|Allergies, Rubber|Allergies, Rubber Latex|Allergy, Latex|Allergy, Rubber|Allergy, Rubber Latex|Hypersensitivities, Latex|Hypersensitivity, Latex|Latex Allergies|Latex Allergy|Latex Hypersensitivities|Natural Rubber Latex Allergy|Rubber Allergies|Rubber Allergy|Rubber Latex Allergies|Rubber Latex Allergy
D020314||Central Nervous System Fungal Infections|Central Nervous System Mycoses|Fungal Infections, Central Nervous System|Infections, Fungal, Central Nervous System|Mycoses, Central Nervous System
D009999||Ossification, Heterotopic|Ectopic Ossification|Heterotopic Ossification|Ossification, Ectopic|Ossification, Pathologic|Ossification, Pathological|Pathological Ossification|Pathologic Ossification
D007333||Insulin Resistance|Insulin Sensitivity|Resistance, Insulin|Sensitivity, Insulin
C567036|604625||Tooth Agenesis, Selective, 3|Hypodontia/Oligodontia 3|STHAG3
D008664||Metal Metabolism, Inborn Errors|Metal Metabolism, Inborn Error
D056828|610618||Hereditary Angioedema Type III|Angioedema, Estrogen-Sensitive Hereditary|Angioedema, Hereditary, Type III|Angioedemas, Estrogen-Sensitive Hereditary|Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function|Estrogen Related HAE|Estrogen-Related HAE|Estrogen-Related HAEs|Estrogen Sensitive HAE|Estrogen-Sensitive HAE|Estrogen-Sensitive HAEs|Estrogen Sensitive Hereditary Angioedema|Estrogen-Sensitive Hereditary Angioedema|Estrogen-Sensitive Hereditary Angioedemas|HAE3|HAE, Estrogen-Related|HAE, Estrogen-Sensitive|HAE III|HAEs, Estrogen-Related|HAEs, Estrogen-Sensitive|HAE with Normal C1 Inhibitor Concentration and Function|Hereditary Angioedema, Estrogen-Sensitive|Hereditary Angioedemas, Estrogen-Sensitive|Hereditary Angioedema with Normal C1 Inhibitor Activity
C567201|612691||Polymicrogyria, Bilateral Occipital
D010985||Platybasia|Basilar Impression|Basilar Impressions|Impression, Basilar|Impressions, Basilar|Platybasias
C566398|603218||Huntington Disease-Like 1|HDL1|HLN1|Huntington-Like Neurodegenerative Disorder 1|Huntington-Like Neurodegenerative Disorder, Autosomal Dominant|Prion Disease, Early-Onset, With Prominent Psychiatric Features
C563065|302000||Bullous Dystrophy, Hereditary Macular Type|EBM|Epidermolysis Bullosa, Macular Type
D058968||Pythiosis
607039|C564633||Deafness, Autosomal Recessive 22|DFNB22
D019318||Porcine Reproductive and Respiratory Syndrome|Blue Eared Pig Disease|Blue-Eared Pig Disease|Mystery Swine Disease|Pig Disease, Blue-Eared|Porcine Epidemic Abortion and Respiratory Syndrome|PRRS|Swine Disease, Mystery|Swine Infertility and Respiratory Syndrome
D019315||Retrobulbar Hemorrhage|Hemorrhage, Retrobulbar|Retrobulbar Hemorrhages
D056304||Genu Valgum|Genu Valga|Genu Valgas|Genu Valgums|Knees, Knock|Knock Knee|Knock Knees|Valga, Genu|Valgas, Genu
C535413|606595||Charcot-Marie-Tooth disease, Type 2F|Charcot-Marie-Tooth disease, axonal, Type 2F|Charcot-Marie-Tooth disease, neuronal, Type 2F|Charcot-Marie-Tooth Neuropathy, Type 2f|Cmt2f|CMT 2F
D056305||Genu Varum|Bow Leg|Bow Legs|Genu Varus|Leg, Bow|Legs, Bow
C567516||Temple-Baraitser Syndrome|Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex
C536078|307000||Hydrocephalus, X-linked|Aqueductal stenosis, X-linked|AQUEDUCTAL STENOSIS, X-LINKED;XLAS HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, INCLUDED|HSAS|HSAS1|HYCX|Hydrocephalus due to congenital stenosis of aqueduct of sylvius|HYDROCEPHALUS, X-LINKED
C567511||Chromosome 22q11.2 Deletion Syndrome, Distal|Distal Chromosome 22q11.2 Deletion Syndrome
D020306||Tuberculosis, Central Nervous System|Central Nervous System Tuberculosis
D008679||Metaplasia
D006015||Glycogen Storage Disease Type VIII|Glycogenosis 8
C567518||Bestrophinopathy
D020301||Vasospasm, Intracranial|Angiospasm, Cerebral|Angiospasm, Intracranial|Angiospasms, Cerebral|Angiospasms, Intracranial|Artery Spasm, Cerebral|Artery Spasms, Cerebral|Cerebral Angiospasm|Cerebral Angiospasms|Cerebral Artery Spasm|Cerebral Artery Spasms|Cerebral Vasospasm|Cerebral Vasospasms|Cerebrovascular Spasm|Cerebrovascular Spasms|Intracranial Angiospasm|Intracranial Angiospasms|Intracranial Vascular Spasm|Intracranial Vascular Spasms|Intracranial Vasospasm|Intracranial Vasospasms|Spasm, Cerebral Artery|Spasm, Cerebrovascular|Spasm, Intracranial Vascular|Spasms, Cerebral Artery|Spasms, Cerebrovascular|Spasms, Intracranial Vascular|Vascular Spasm, Intracranial|Vascular Spasms, Intracranial|Vasospasm, Cerebral|Vasospasms, Cerebral|Vasospasms, Intracranial
C567517||Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs|SERKAL|SERKAL Syndrome
D020300||Intracranial Hemorrhages|Brain Hemorrhage|Brain Hemorrhages|Hemorrhage, Brain|Hemorrhage, Intracranial|Hemorrhage, Posterior Fossa|Hemorrhages, Brain|Hemorrhages, Intracranial|Hemorrhages, Posterior Fossa|Intracranial Hemorrhage|Posterior Fossa Hemorrhage|Posterior Fossa Hemorrhages
C567519||Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus|ETINPH
D010996||Pleural Effusion|Effusion, Pleural|Effusions, Pleural|Pleural Effusions
C538351|609285||Nemaline myopathy 4|CAPM2, INCLUDED|CAP MYOPATHY 2, INCLUDED|Cap Myopathy, Tpm2-Related|NEM4|Nemaline myopathy caused by mutation in the tropomyosin 2 gene
D010995||Pleural Diseases|Disease, Pleural|Diseases, Pleural|Pleural Disease
D010998||Pleurisy|Pleurisies|Pleuritides|Pleuritis
D010997||Pleural Neoplasms|Neoplasm, Pleural|Neoplasms, Pleural|Pleural Neoplasm
609029|C535733||Emanuel syndrome|22) SYNDROME|Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events|Supernumary Der(22) Syndrome|Supernumary Der(22)T(11;22) Syndrome|Supernumary Derivative 22 Chromosome Syndrome|Supernumerary der(22) syndrome|SUPERNUMERARY DER(22)t(11|Supernumerary der(22)t(11;22) syndrome
606612||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5|MDC1C|MDDGB5|MUSCULAR DYSTROPHY, CONGENITAL, 1C|MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
C531598||Familial acanthosis nigricans
C562647|146300||Hypophosphatasia, Adult|Hypophosphatasia, Mild|HYPOPHOSPHATASIA, MILD ODONTOHYPOPHOSPHATASIA, INCLUDED
C531599||Achondroplastic dwarfism
606613||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1|HDLC1|HDLCQ1
D044342||Malnutrition|Nutritional Deficiencies|Nutritional Deficiency|Undernutrition
D044343||Overnutrition
D007319||Sleep Initiation and Maintenance Disorders|Awakening, Early|Chronic Insomnia|DIMS (Disorders of Initiating and Maintaining Sleep)|Disorders of Initiating and Maintaining Sleep|Dysfunction, Sleep Initiation|Dysfunctions, Sleep Initiation|Early Awakening|Insomnia|Insomnia, Chronic|Insomnia Disorder|Insomnia Disorders|Insomnia, Nonorganic|Insomnia, Primary|Insomnia, Psychophysiological|Insomnia, Rebound|Insomnias|Insomnia, Secondary|Insomnia, Transient|Nonorganic Insomnia|Primary Insomnia|Psychophysiological Insomnia|Rebound Insomnia|Secondary Insomnia|Sleep Initiation Dysfunction|Sleep Initiation Dysfunctions|Sleeplessness|Transient Insomnia
D008649||Mesonephroma|Mesonephromas
D009976||Orthomyxoviridae Infections|Infection, Orthomyxoviridae|Infection, Orthomyxovirus|Infections, Orthomyxoviridae|Infections, Orthomyxovirus|Orthomyxoviridae Infection|Orthomyxovirus Infection|Orthomyxovirus Infections
D008644||Mesial Movement of Teeth|Mesial Drift of Teeth|Mesial Migration of Teeth|Teeth Mesial Drift|Teeth Mesial Migration|Teeth Mesial Movement
C563579|157170||Holoprosencephaly 2|HPE2
253601|C535899||Limb-girdle muscular dystrophy, type 2B|LGMD2B|LGMD3|Muscular Dystrophy, Limb-Girdle, Type 2B|Muscular dystrophy, limb-girdle, type 3
D015451|109543||Leukemia, Lymphocytic, Chronic, B-Cell|B Cell Chronic Lymphocytic Leukemia|B-Cell Chronic Lymphocytic Leukemia|B Cell Leukemia, Chronic|B-Cell Leukemia, Chronic|B-Cell Leukemias, Chronic|B-Cell Malignancy, Low-Grade|BCLL|B Lymphocytic Leukemia, Chronic|B-Lymphocytic Leukemia, Chronic|B-Lymphocytic Leukemias, Chronic|Chronic B-Cell Leukemia|Chronic B-Cell Leukemias|Chronic B-Lymphocytic Leukemia|Chronic B-Lymphocytic Leukemias|Chronic Lymphoblastic Leukemia|Chronic Lymphoblastic Leukemias|Chronic Lymphocytic Leukemia|Chronic Lymphocytic Leukemias|CLL|CLL Lymphoplasmacytoid Lymphoma|CLL Lymphoplasmacytoid Lymphomas|CLLS1|CLLS2|CLLS3|CLLS4|CLLS5|DBM|Diffuse Well Differentiated Lymphocytic Lymphoma|Diffuse Well-Differentiated Lymphocytic Lymphoma|Disrupted In B-Cell Malignancy|Leukemia, B Cell, Chronic|Leukemia, B-Cell, Chronic|Leukemia, Chronic B-Cell|Leukemia, Chronic B-Lymphocytic|Leukemia, Chronic Lymphatic|Leukemia, Chronic Lymphocytic|Leukemia, Chronic Lymphocytic, B-Cell|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3|LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 4|LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 5|Leukemia, Lymphoblastic, Chronic|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B Cell|Leukemias, Chronic B-Cell|Leukemias, Chronic B-Lymphocytic|Leukemias, Chronic Lymphoblastic|Lymphoblastic Leukemia, Chronic|Lymphoblastic Leukemias, Chronic|Lymphocytic Leukemia, Chronic|Lymphocytic Leukemia, Chronic, B Cell|Lymphocytic Leukemia, Chronic, B-Cell|Lymphocytic Leukemias, Chronic|Lymphocytic Lymphoma|Lymphocytic Lymphoma, Diffuse, Well Differentiated|Lymphocytic Lymphoma, Diffuse, Well-Differentiated|Lymphocytic Lymphomas|Lymphocytic Lymphoma, Small|Lymphocytic Lymphomas, Small|Lymphocytic Lymphomas, Well-Differentiated|Lymphocytic Lymphoma, Well Differentiated|Lymphocytic Lymphoma, Well-Differentiated|Lymphoma, CLL Lymphoplasmacytoid|Lymphoma, Lymphocytic|Lymphoma, Lymphocytic, Diffuse, Well Differentiated|Lymphoma, Lymphocytic, Diffuse, Well-Differentiated|Lymphoma, Lymphocytic, Well Differentiated|Lymphoma, Lymphocytic, Well-Differentiated|Lymphoma, Lymphoplasmacytoid, CLL|Lymphomas, CLL Lymphoplasmacytoid|Lymphomas, Lymphocytic|Lymphoma, Small Cell|Lymphoma, Small-Cell|Lymphoma, Small Lymphocytic|Lymphoma, Small Lymphocytic, Plasmacytoid|Lymphomas, Small-Cell|Lymphomas, Small Lymphocytic|Lymphomas, Well-Differentiated Lymphocytic|Lymphoma, Well-Differentiated Lymphocytic|Lymphoplasmacytoid Lymphoma, CLL|Lymphoplasmacytoid Lymphomas, CLL|Small Cell Lymphoma|Small-Cell Lymphoma|Small-Cell Lymphomas|Small Lymphocytic Lymphoma|Small Lymphocytic Lymphomas|Well-Differentiated Lymphocytic Lymphoma|Well-Differentiated Lymphocytic Lymphomas
C537923|300321||Opitz-Kaveggia syndrome|FGS|FGS1|FGS2|FGS3|FGS4|FG syndrome|FG SYNDROME 1|FG syndrome 2|FG syndrome 3|FG syndrome 4|Keller syndrome|MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM|Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum|Mental Retardation, X-Linked, Cask-Related|Mental Retardation, X-Linked, With Nystagmus|MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS, INCLUDED|OKS
C567067|300653||Phosphoglycerate Kinase 1 Deficiency|PGK1 Deficiency|PGK Deficiency|Phosphoglycerate Kinase Deficiency
C536789|603116||Craniosynostosis, anal anomalies, and porokeratosis|CAP SYNDROME|CDAGS syndrome|CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS
C564658|606787||Peripheral Arterial Occlusive Disease 1|PAOD1
D019310||Pseudolymphoma|Hyperplasia, Reactive Lymphoid|Hyperplasias, Reactive Lymphoid|Lymphocytoma|Lymphocytomas|Lymphoid Hyperplasia, Reactive|Lymphoid Hyperplasias, Reactive|Pseudolymphomas|Reactive Lymphoid Hyperplasia|Reactive Lymphoid Hyperplasias
C566487|610006||2-Methylbutyryl-CoA Dehydrogenase Deficiency|2-MBCD Deficiency|2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency|2-Methylbutyryl Glycinuria|SBCADD|Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency|SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
D008659||Metabolic Diseases|Disease, Metabolic|Diseases, Metabolic|Metabolic Disease|Thesaurismoses|Thesaurismosis
D008654||Mesothelioma|Mesotheliomas
D007331||Insulin Coma|Coma, Insulin|Insulin Shock|Shock, Insulin
D008661||Metabolism, Inborn Errors|Error, Inborn Metabolism|Errors, Inborn Metabolism|Errors Metabolism, Inborn|Errors Metabolisms, Inborn|Inborn Errors Metabolism|Inborn Errors Metabolisms|Inborn Errors of Metabolism|Inborn Metabolism Error|Inborn Metabolism Errors|Metabolism Error, Inborn|Metabolism Errors, Inborn|Metabolism Inborn Error|Metabolism Inborn Errors|Metabolisms, Inborn Errors
150800||HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER|HLRCC|LEIOMYOMA, MULTIPLE CUTANEOUS|LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY|LRCC|MCL|MCUL1|MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
D055008||Anthracosis|Anthracoses|Black Lung|Black Lung Disease|Black Lung Diseases|Black Lungs|Coal Miner Lung|Coal Miner&apos;s Lung|Coal Miners Lung|Coal Miner&apos;s Lungs|Coalworker Pneumoconiosis|Coal Worker Pneumoconiosis|Coalworker&apos;s Pneumoconioses|Coal Worker&apos;s Pneumoconioses|Coalworker&apos;s Pneumoconiosis|Coalworkers Pneumoconiosis|Coal Worker&apos;s Pneumoconiosis|Coal Workers Pneumoconiosis|Lung, Black|Lungs, Black|Miner&apos;s Lung, Coal|Miner&apos;s Lungs, Coal|Pneumoconioses, Coalworker&apos;s|Pneumoconioses, Coal Worker&apos;s|Pneumoconiosis, Coal Worker|Pneumoconiosis, Coalworker&apos;s|Pneumoconiosis, Coal Workers|Pneumoconiosis, Coal Worker&apos;s
D005878|143500||Gilbert Disease|Arias Type Hyperbilirubinemia|Arias Type Hyperbilirubinemias|Constitutional Liver Dysfunction|Disease, Gilbert|Disease, Gilbert&apos;s|Familial Nonhemolytic Jaundice|Gilbert-Lereboullet Syndrome|Gilbert&apos;s Disease|Gilberts Disease|Gilbert&apos;s Syndrome|Gilberts Syndrome|Gilbert Syndrome|HBLRG|Hyperbilirubinemia 1|Hyperbilirubinemia 1s|Hyperbilirubinemia, Arias Type|HYPERBILIRUBINEMIA, GILBERT TYPE|Hyperbilirubinemia I|Hyperbilirubinemias, Arias Type|Meulengracht Syndrome|Syndrome, Gilbert|Syndrome, Gilbert&apos;s|Unconjugated Benign Bilirubinemia
D055009||Spondylosis|Cervical Spondylosis|Lumbarsacral Spondylosis|Spondylosis, Cervical|Spondylosis Deformans|Spondylosis, Lumbarsacral|Spondylosis, Thoracic|Thoracic Spondylosis
608446|D009203||Myocardial Infarction|Infarction, Myocardial|Infarctions, Myocardial|Infarct, Myocardial|Infarcts, Myocardial|MCI1, INCLUDED|MCI2|Myocardial Infarct|MYOCARDIAL INFARCTION, PROTECTION AGAINST, INCLUDED|Myocardial Infarctions|MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO|MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1, INCLUDED|MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2|Myocardial Infarcts
D057667||Conducted Energy Weapon Injuries|Injuries, Stun Gun|Injuries, TASER|Injury, Stun Gun|Injury, TASER|Stun Gun Injuries|Stun Gun Injury|TASER Injuries|TASER Injury
C565201|610321||Prostate Cancer, Hereditary, 7|HPC7|Prostate Cancer Aggressiveness
C537998|224410||Dyssegmental dysplasia|Anisospondylic camptomicromelic dwarfism|Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type|DDSH|Dyssegmental dwarfism|Dyssegmental Dwarfism, Silverman-Handmaker Type|Dyssegmental dysplasia Silverman Handmaker type|Dyssegmental Dysplasia, Silverman-Handmaker Type
D009959||Oropharyngeal Neoplasms|Cancer of Oropharnyx|Cancer of the Oropharynx|Cancer, Oropharyngeal|Cancer, Oropharynx|Cancers, Oropharyngeal|Cancers, Oropharynx|Neoplasm, Oropharyngeal|Neoplasm, Oropharynx|Neoplasms, Oropharyngeal|Neoplasms, Oropharynx|Oropharnyx Cancer|Oropharnyx Cancers|Oropharyngeal Cancer|Oropharyngeal Cancers|Oropharyngeal Neoplasm|Oropharynx Cancer|Oropharynx Cancers|Oropharynx Neoplasm|Oropharynx Neoplasms
C537312|608029||Spinocerebellar ataxia, autosomal recessive 6|Cerebellar ataxia, infantile nonprogressive, autosomal recessive|Norwegian infantile onset ataxia|SCAR6
D009958||Orofaciodigital Syndromes|Dysplasia Linguofacialis|Gorlin Psaume Syndrome|Gorlin-Psaume Syndrome|Mohr Syndrome|Oral-Facial-Digital Syndrome|Oral Facial Digital Syndrome, Type I|Oral-Facial-Digital Syndrome, Type I|Oral Facial Digital Syndrome, Type II|Oral-Facial-Digital Syndrome, Type II|Orodigitofacial Dysostosis|Orodigitofacial Syndrome|Orofaciodigital Syndrome|Oro-Facio-Digital Syndrome|Orofaciodigital Syndrome I|Orofaciodigital Syndrome II|Orofaciodigital Syndrome IIs|Orofaciodigital Syndrome Is|Papillon Leage and Psaume Syndrome|Papillon-Leage and Psaume Syndrome|Syndrome, Gorlin-Psaume|Syndrome, Mohr|Syndrome, Orofaciodigital|Syndromes, Orofaciodigital
D009957||Oroantral Fistula|Fistula, Oroantral|Fistulas, Oroantral|Oroantral Fistulas
D009956||Psittacosis|Ornithoses|Ornithosis|Psittacoses
C535956|131750||Epidermolysis bullosa dystrophica, Pasini type|Albopapuloid dominant dystrophic EB|ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA;EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED|DDEB|Dystrophic Epidermolysis Bullosa, Autosomal Dominant|EBDCT|EBDSC, INCLUDED|Epidermolysis Bullosa Dystrophica, Autosomal Dominant|EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE|EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
D008630||Mercury Poisoning|Mercury Poisonings|Poisoning, Mercury|Poisonings, Mercury
D055013||Osteoarthritis, Spine|Lumbar Osteoarthritis|Osteoarthritis, Lumbar|Osteoarthritis, Spinal|Spinal Osteoarthritis|Spine Osteoarthritis
150270|C562861||Laryngeal Adductor Paralysis|LAP|Vocal Cord Dysfunction, Adductor Type
D055010||Posterior Cervical Sympathetic Syndrome|Barre Lieou Syndrome|Barre-Lieou Syndrome|Syndrome, Barre-Lieou|Syndrome of Barre Lieou|Syndrome of Barre-Lieou
C563983|600165||Nanophthalmos 1|Microphthalmos, Simple, Autosomal Dominant|Nanophthalmia 1|Nanophthalmos, Autosomal Dominant|Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma|NNO1
C538068|229800||Fructosuria|Essential benign fructosuria|FRUCTOSURIA, ESSENTIAL|Hepatic fructokinase deficiency|Ketohexokinase deficiency
D008639||Mesenteric Cyst|Cyst, Mesenteric|Cysts, Mesenteric|Mesenteric Cysts
D012174|268000||Retinitis Pigmentosa|Cone-Rod Degeneration|Cone Rod Degenerations|Cone-Rod Degenerations|Cone-Rod Dystrophies|Cone-Rod Dystrophies, Retinal|Cone Rod Dystrophy|Cone-Rod Dystrophy|Cone-Rod Dystrophy 2|Cone-Rod Dystrophy, Retinal|Cone-Rod Retinal Dystrophies|Cone Rod Retinal Dystrophy|Cone-Rod Retinal Dystrophy|Degeneration, Cone-Rod|Degenerations, Cone-Rod|Degenerations, Tapetoretinal|Degeneration, Tapetoretinal|Dystrophies, Cone-Rod|Dystrophies, Cone-Rod Retinal|Dystrophies, Retinal Cone-Rod|Dystrophies, Rod Cone|Dystrophies, Rod-Cone|Dystrophy, Cone-Rod|Dystrophy, Cone-Rod Retinal|Dystrophy, Retinal Cone-Rod|Dystrophy, Rod Cone|Dystrophy, Rod-Cone|Pigmentary Retinopathies|Pigmentary Retinopathy|Retinal Cone-Rod Dystrophies|Retinal Cone Rod Dystrophy|Retinal Cone-Rod Dystrophy|Retinal Dystrophies, Cone-Rod|Retinal Dystrophy, Cone-Rod|RETINITIS PIGMENTOSA 22|RETINITIS PIGMENTOSA 23|RETINITIS PIGMENTOSA 24|RETINITIS PIGMENTOSA 28|Retinopathies, Pigmentary|Retinopathy, Pigmentary|Rod Cone Dystrophies|Rod-Cone Dystrophies|Rod Cone Dystrophy|Rod-Cone Dystrophy|RP|RP22|RP23|RP24|RP28|Tapetoretinal Degeneration|Tapetoretinal Degenerations
D008637||Mesenchymoma|Mesenchymomas
C536028|212720||Martsolf syndrome|Cataract, mental retardation, hypogonadism|Cataract-Mental Retardation-Hypogonadism
D008641||Mesenteric Vascular Occlusion|Mesenteric Vascular Occlusions|Occlusion, Mesenteric Vascular|Occlusions, Mesenteric Vascular|Vascular Occlusion, Mesenteric|Vascular Occlusions, Mesenteric
133020|D004916||Erythromelalgia|Erythermalgia|Erythermalgia, Primary|Erythermalgias|Erythermalgias, Primary|Erythromelalgia, Familial|ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER, INCLUDED|Erythromelalgia, Primary|Erythromelalgias|Familial Erythromelalgia|Primary Erythermalgia|Primary Erythermalgias|Primary Erythromelalgia|SFNP, INCLUDED|Small Fiber Neuropathy|Small Nerve Fiber Neuropathy
D008640||Mesenteric Lymphadenitis|Lymphadenitides, Mesenteric|Lymphadenitis, Mesenteric|Mesenteric Lymphadenitides
D010954||Plasmacytoma|Plasma Cell Tumor|Plasma Cell Tumors|Plasmacytomas|Plasmocytoma|Plasmocytomas|Tumor, Plasma Cell|Tumors, Plasma Cell
217400|C535473||Corneal dystrophy and perceptive deafness|CDPD|CDPD1|Congenital corneal dystrophy, progressive sensorineural deafness|Corneal dystrophy and sensorineural deafness|Harboyan syndrome
C567437|612015||Congenital Disorder Of Glycosylation, Type In|CDG1N|CDGIn|CDG In
D008607||Intellectual Disability|Deficiencies, Mental|Deficiency, Mental|Disabilities, Intellectual|Disability, Intellectual|Idiocy|Intellectual Disabilities|Mental Deficiencies|Mental Deficiency|Mental Retardation|Mental Retardation, Psychosocial|Mental Retardations, Psychosocial|Psychosocial Mental Retardation|Psychosocial Mental Retardations|Retardation, Mental|Retardation, Psychosocial Mental|Retardations, Psychosocial Mental
C563958|600320||Diabetes Mellitus, Insulin-Dependent, 5|IDDM5|Insulin-Dependent Diabetes Mellitus 5
D010927||Placental Insufficiency|Insufficiency, Placental
176807|D011471||Prostatic Neoplasms|Cancer of Prostate|Cancer of the Prostate|Cancer, Prostate|Cancer, Prostatic|Cancers, Prostate|Cancers, Prostatic|HPCQTL19|Neoplasm, Prostate|Neoplasm, Prostatic|Neoplasms, Prostate|Neoplasms, Prostatic|Prostate Cancer|PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19|Prostate Cancers|Prostate Neoplasm|Prostate Neoplasms|Prostatic Cancer|Prostatic Cancers|Prostatic Neoplasm
200150|D054546||Neuroacanthocytosis|Acanthocytoses, Chorea|Acanthocytosis, Chorea|Acanthocytosis with Neurologic Disorder|CHAC|Chorea Acanthocytoses|Chorea-Acanthocytoses|Chorea Acanthocytosis|Chorea-Acanthocytosis|Chorea Acanthocytosis Syndrome|Chorea Acanthocytosis Syndromes|Choreoacanthocytoses|Choreoacanthocytosis|Levine Critchley Syndrome|Levine-Critchley Syndrome|NEUROACANTHOCYTOSIS
C567502|611890||Lethal Arthrogryposis With Anterior Horn Cell Disease|LAAHD
D056364||Colloid Cysts|Colloid Cyst|Cyst, Colloid|Cysts, Colloid
D055034||Osteochondrosis|Koehler Disease|Koehler&apos;s Disease|Koehlers Disease|Navicular Osteochondroses|Navicular Osteochondrosis|Osgood Schlatter Disease|Osgood-Schlatter Disease|Osteochondroses|Osteochondroses, Navicular|Osteochondrosis, Navicular
D055035||Spinal Osteochondrosis|Osteochondroses, Spinal|Osteochondrosis of Spine|Osteochondrosis, Spinal|Spinal Osteochondroses|Spine Osteochondroses|Spine Osteochondrosis
D010921||Placenta Accreta|Accreta, Placenta|Increta, Placenta|Percreta, Placenta|Placenta Increta|Placenta Percreta
D010923||Placenta Previa|Placenta Praevia
D055031||Primary Graft Dysfunction|Dysfunction, Primary Graft|Graft Dysfunction, Primary
D010922||Placenta Diseases|Disease, Placenta|Disease, Placental|Diseases, Placenta|Diseases, Placental|Disorder, Placenta|Disorders, Placenta|Placenta Disease|Placenta Disorder|Placenta Disorders|Placental Disease|Placental Diseases
C567643|613325||Rhabdoid Tumor Predisposition Syndrome 2|RTPS2
C567450|611953||Macular Degeneration, Age-Related, 11|ARMD11
270450|C564816||Insulin-Like Growth Factor I, Resistance To|IGF-I Resistance|IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED|Somatomedin C, Resistance To|SOMATOMEDIN-C, RESISTANCE TO|Somatomedin, End-Organ Insensitivity To
606799|D020521||Stroke|Acute Cerebrovascular Accident|Acute Cerebrovascular Accidents|Acute Stroke|Acute Strokes|Apoplexy|Apoplexy, Cerebrovascular|Brain Vascular Accident|Brain Vascular Accidents|Cerebral Stroke|Cerebral Strokes|Cerebrovascular Accident|Cerebrovascular Accident, Acute|Cerebrovascular Accidents|Cerebrovascular Accidents, Acute|Cerebrovascular Apoplexy|Cerebrovascular Stroke|Cerebrovascular Strokes|CVA (Cerebrovascular Accident)|CVAs (Cerebrovascular Accident)|STRK1|Stroke, Acute|Stroke, Cerebral|Stroke, Cerebrovascular|Strokes|Strokes, Acute|Strokes, Cerebral|Strokes, Cerebrovascular|STROKE, SUSCEPTIBILITY TO, 1|Vascular Accident, Brain|Vascular Accidents, Brain
D010939||Plant Poisoning|Plant Poisonings|Poisoning, Plant|Poisonings, Plant
C566970|611291||Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation|NHEJ1 Syndrome|NHEJ1 SYNDROME SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED|SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, and Sensitivity to Ionizing Radiation due to NHEJ1 Deficiency|SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED|SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation|Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency
D010930||Plague|Black Death|Black Deaths|Black Plague|Black Plagues|Bubonic Plague|Death, Black|Deaths, Black|Meningeal Plague|Meningeal Plagues|Plague, Black|Plague, Bubonic|Plague, Meningeal|Plague, Pneumonic|Plague, Pulmonic|Plagues, Black|Plague, Septicemic|Plagues, Meningeal|Plagues, Pneumonic|Plagues, Pulmonic|Plagues, Septicemic|Pneumonic Plague|Pneumonic Plagues|Pulmonic Plague|Pulmonic Plagues|Septicemic Plague|Septicemic Plagues
D009771|164230||Obsessive-Compulsive Disorder|Anankastic Personalities|Anankastic Personality|Disorder, Obsessive-Compulsive|Disorders, Obsessive-Compulsive|Neuroses, Obsessive-Compulsive|Neurosis, Obsessive Compulsive|Neurosis, Obsessive-Compulsive|Obsessive Compulsive Disorder|Obsessive-Compulsive Disorders|Obsessive-Compulsive Neuroses|Obsessive-Compulsive Neurosis|OCD|Personalities, Anankastic|Personality, Anankastic
D013180||Sprains and Strains|Sprain|Sprains|Strain|Strains|Strains and Sprains
D009918||Orbital Neoplasms|Neoplasm, Orbital|Neoplasms, Orbital|Orbital Neoplasm
D009917||Orbital Fractures|Blow-Out Fracture|Blow Out Fractures|Blow-Out Fractures|Fracture, Blow-Out|Fracture, Orbital|Fractures, Blow Out|Fractures, Blow-Out|Fractures, Orbital|Orbital Fracture
D009916||Orbital Diseases|Disease, Orbital|Diseases, Orbital|Orbital Disease
D013182||Sprue, Tropical|Idiopathic Tropical Malabsorption Syndrome|Tropical Sprue
D001198||Ascaridiasis|Ascaridiases
D009914||Oral Submucous Fibrosis|Fibroses, Oral Submucous|Fibrosis, Oral Submucous|Oral Submucous Fibroses|Submucous Fibroses, Oral|Submucous Fibrosis, Oral
D001196||Ascariasis|Ascariases
D009912||Oral Manifestations|Manifestation, Oral|Manifestations, Oral|Oral Manifestation
C536450|310490||Cowchock syndrome|Charcot-Marie-Tooth disease with deafness and mental retardation|Charcot-Marie-Tooth disease, X-linked recessive, 4|CMTX4|COWCK|NADMR|NAMSD|Neuropathy, Axonal Motor-Sensory, with Deafness and Mental Retardation
D001195||Asbestosis|Asbestoses|Idiopathic Interstitial Pneumonitis - from Asbestos Exposure|Pulmonary Fibrosis - from Asbestos Exposure
C538388|307150||Hypertrichosis congenital generalized X-linked|CGH|CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME|HCG|HTC2|Hypertrichosis, Congenital Generalized|Macias-Flores Garcia-Cruz Rivera syndrome
C536065|311300||Oto-Palato-digital syndrome type 1|FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED|OPD1|OPD I SYNDROME|OPD SYNDROME 1 OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED|Opd Syndrome, Type 1|Otopalatodigital syndrome, type 1|Otopalatodigital Syndrome Type 1|Otopalatodigital Syndrome, Type I|Taybi syndrome
D006958|114000||Hyperostosis, Cortical, Congenital|Caffey De Toni Silvermann Syndrome|Caffey-De Toni-Silvermann Syndrome|Caffey Disease|Caffey&apos;s Disease, Familial|Congenital Cortical Hyperostoses|Congenital Cortical Hyperostosis|Congenital Hyperostoses, Cortical|Congenital Hyperostosis, Cortical|Cortical Congenital Hyperostoses|Cortical Congenital Hyperostosis|Cortical Hyperostoses, Congenital|Cortical Hyperostoses, Infantile|Cortical Hyperostosis, Congenital|Cortical Hyperostosis, Infantile|Disease, Caffey|Disease, Familial Caffey&apos;s|Familial Caffey Disease|Familial Caffey&apos;s Disease|Familial Caffeys Disease|Familial Infantile Cortical Hyperostosis|Hyperostoses, Congenital Cortical|Hyperostoses, Cortical Congenital|Hyperostoses, Infantile Cortical|Hyperostosis, Congenital Cortical|Hyperostosis, Cortical Congenital|Hyperostosis, Infantile Cortical|Infantile Cortical Hyperostoses|Infantile Cortical Hyperostosis|INFANTILE CORTICAL HYPEROSTOSIS PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED|Syndrome, Caffey-De Toni-Silvermann
605376||HETEROTAXY, VISCERAL, 2, AUTOSOMAL|HTX|HTX2
D010900||Pituitary Diseases|Adenohypophyseal Disease|Adenohypophyseal Diseases|Anterior Pituitary Disease|Anterior Pituitary Diseases|Disease, Adenohypophyseal|Disease, Anterior Pituitary|Disease, Neurohypophyseal|Disease, Pituitary|Disease, Pituitary Gland|Disease, Posterior Pituitary|Diseases, Adenohypophyseal|Diseases, Anterior Pituitary|Diseases, Neurohypophyseal|Diseases, Pituitary|Diseases, Pituitary Gland|Diseases, Posterior Pituitary|Disorder, Hypophyseal|Disorder, Pituitary|Disorders, Hypophyseal|Disorders, Pituitary|Hypophyseal Disorder|Hypophyseal Disorders|Neurohypophyseal Disease|Neurohypophyseal Diseases|Pituitary Disease|Pituitary Disease, Anterior|Pituitary Disease, Posterior|Pituitary Diseases, Anterior|Pituitary Diseases, Posterior|Pituitary Disorder|Pituitary Disorders|Pituitary Gland Disease|Pituitary Gland Diseases|Posterior Pituitary Disease|Posterior Pituitary Diseases
C538613|312000||Panhypopituitarism X-linked|Panhypopituitarism, X-Linked|PHPX|PITUITARY DWARFISM IV, FORMERLY
C564515|300433||Mental Retardation, X-Linked 81|MRX81
D013174||Sporotrichosis|Sporotrichoses
C566576|602099||Amyotrophic Lateral Sclerosis 5|ALS5
C566551|602429||Glaucoma 1, Open Angle, D|GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET|GLC1D
D010916||Pityriasis Rubra Pilaris
D010915||Pityriasis|Pityriases
D009920||Orchitis|Orchitides
202300|C565972||Adrenocortical Carcinoma, Hereditary|ADCC|ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED
C562865|612356||Heparin Cofactor II Deficiency|HCF2 DEFICIENCY|Hcf II Deficiency|THPH10|THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY|Thrombophilia, Susceptibility to, due to Heparin Cofactor Ii Deficiency
C567410|600625||Orofacial Cleft 11|CHCL, INCLUDED|Cleft Lip with or without Cleft Palate, Nonsyndromic, 11|CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED|CONGENITAL HEALED CLEFT LIP, INCLUDED|OFC11
D010911||Pituitary Neoplasms|Adenoma, Pituitary|Adenomas, Pituitary|Cancer of Pituitary|Cancer of the Pituitary|Cancer, Pituitary|Cancers, Pituitary|Carcinoma, Pituitary|Carcinomas, Pituitary|Neoplasm, Pituitary|Neoplasms, Pituitary|Pituitary Adenoma|Pituitary Adenomas|Pituitary Cancer|Pituitary Cancers|Pituitary Carcinoma|Pituitary Carcinomas|Pituitary Neoplasm|Pituitary Tumor|Pituitary Tumors|Tumor, Pituitary|Tumors, Pituitary
C536384||FACES syndrome
C562672||Hyperglycinemia, Transient Neonatal
C536385||Facial ectodermal dysplasia|Bitemporal forceps marks syndrome|Focal facial dermal dysplasia type 2|Focal Facial Dermal Dysplasia, Type II|Setleis syndrome
D052801||Male Urogenital Diseases|Genitourinary Disease, Male|Genitourinary Diseases, Male|Male Genitourinary Disease|Male Genitourinary Diseases|Male Urogenital Disease|Urogenital Disease, Male|Urogenital Diseases, Male
C562670||Glucoglycinuria
C536383||Eyebrows duplication of, with stretchable skin and syndactyly|Eyebrows, Duplication of, with Stretchable Skin and Syndactyly
C536388||Faciocardiorenal syndrome|Eastman Bixler syndrome
D013161||Splenic Rupture|Rupture, Splenic|Ruptures, Splenic|Splenic Ruptures
C536389||Faciomandibular myoclonus, nocturnal|Nocturnal facio-mandibular myoclonus
C562674||Hyperleucine-Isoleucinemia
C536387||Facio thoraco genital syndrome|Congenital anomalies, involving mainly the face, thorax, and genitalia|Faciothoracogenital Syndrome
D013160||Splenic Neoplasms|Cancer of Spleen|Cancer of the Spleen|Cancer, Spleen|Cancer, Splenic|Cancers, Spleen|Cancers, Splenic|Neoplasm, Spleen|Neoplasm, Splenic|Neoplasms, Spleen|Neoplasms, Splenic|Spleen Cancer|Spleen Cancers|Spleen Neoplasm|Spleen Neoplasms|Splenic Cancer|Splenic Cancers|Splenic Neoplasm
D001176||Arthrogryposis|Amyoplasia Congenita|Arthrogryposes|Arthrogryposes, Congenital Multiple|Arthrogryposis, Congenital Multiple|Arthrogryposis Multiplex Congenita|Arthrogryposis Multiplex Congenita (AMC)|Arthrogryposis Multiplex Congenitas|Arthrogryposis Multiplex Congenitas (AMC)|Arthromyodysplasia, Congenital|Arthromyodysplasias, Congenital|Congenita, Arthrogryposis Multiplex|Congenita, Arthrogryposis Multiplex (AMC)|Congenital Arthromyodysplasia|Congenital Arthromyodysplasias|Congenital Multiple Arthrogryposes|Congenital Multiple Arthrogryposis|Congenitas, Arthrogryposis Multiplex|Congenitas, Arthrogryposis Multiplex (AMC)|Fibrous Ankylosis of Multiple Joints|Guerin Stern Syndrome|Guerin-Stern Syndrome|Gu&#233;rin Stern Syndrome|Gu&#233;rin-Stern Syndrome|Multiple Arthrogryposes, Congenital|Multiple Arthrogryposis, Congenital|Multiplex Congenita, Arthrogryposis|Multiplex Congenita, Arthrogryposis (AMC)|Multiplex Congenitas, Arthrogryposis|Multiplex Congenitas, Arthrogryposis (AMC)|Myodystrophia Fetalis Deformans|Otto Syndrome|Rocher Sheldon Syndrome|Rocher-Sheldon Syndrome|Rossi Syndrome|Syndrome, Guerin-Stern|Syndrome, Gu&#233;rin-Stern|Syndrome, Otto|Syndrome, Rocher-Sheldon|Syndrome, Rossi
C562678||Acetyl-Coa Carboxylase Deficiency|ACACA Deficiency
D013009|613938||Somnambulism|Nocturnal Wandering|PARASOMNIA, SLEEP TERRORS TYPE, INCLUDED|PARASOMNIA, SLEEPWALKING TYPE|PSMNST, INCLUDED|PSMNSW|Sleepwalking|Sleep Walking|Sleep Walking Disorder|Sleep Walking Disorders|Wandering, Nocturnal
C536380||Evan&apos;s syndrome|Autoimmune hemolytic anemia and autoimmune thrombocytopenia|Evan syndrome
D012507|181000||Sarcoidosis|Besnier Boeck Disease|Besnier-Boeck Disease|Besnier Boeck Schaumann Syndrome|Besnier-Boeck-Schaumann Syndrome|Boeck Disease|Boeck Sarcoid|Boeck&apos;s Disease|Boecks Disease|Boeck&apos;s Sarcoid|Boecks Sarcoid|Disease, Schaumann|Sarcoid, Boeck&apos;s|Sarcoidoses|SARCOIDOSIS|SARCOIDOSIS, SUSCEPTIBILITY TO, 1|SARCOIDOSIS, SUSCEPTIBILITY TO, 2|SARCOIDOSIS, SUSCEPTIBILITY TO, 3|Schaumann Disease|Schaumann&apos;s Syndrome|Schaumann&apos;s Syndromes|Schaumann Syndrome|SS1|SS2|SS3|Syndrome, Besnier-Boeck-Schaumann|Syndrome, Schaumann|Syndrome, Schaumann&apos;s
D001177||Arthropathy, Neurogenic|Arthropathies, Neurogenic|Charcot Joint|Charcot&apos;s Joint|Charcots Joint|Joint, Charcot&apos;s|Neurogenic Arthropathies|Neurogenic Arthropathy
D001183||Arthus Reaction|Arthus Phenomenon|Phenomenon, Arthus|Reaction, Arthus
C536352|193220||Vitreoretinochoroidopathy|ADVIRC|Autosomal dominant Vitreoretinochoroidopathy|Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma|MRCS, INCLUDED|Vitreoretinochoroidopathy, Autosomal Dominant|Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos|VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, INCLUDED|Vitreoretinochoroidopathy dominant|Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract|VRCP
C567429|612069||Amyotrophic Lateral Sclerosis 10|AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED|FTLD-TDP, TARDBP-RELATED, INCLUDED|INCLUDED
606689||GLAUCOMA 1, OPEN ANGLE, B|GLC1B
D018296|132600||Pilomatrixoma|Benign Pilomatricoma|Benign Pilomatrixoma|Calcifying Epithelioma of Malherbe|Epithelioma Calcificans Of Malherbe|Malherbe Calcifying Epithelioma|Pilomatricoma|Pilomatricoma, Benign|Pilomatrixoma, Benign|PTR
C536379||Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly|Kumar Levick syndrome
D013158||Splenic Diseases|Disease, Splenic|Diseases, Splenic|Splenic Disease
C535686|600332||Rippling muscle disease, 1|Rippling muscle disease|Rippling Muscle Disease 1|Rippling Muscle Disease 2|RIPPLING MUSCLE DISEASE 2, INCLUDED|RMD|RMD1|RMD2, INCLUDED
D013159||Splenic Infarction|Infarction, Splenic|Infarctions, Splenic|Infarct of the Spleen|Infarct, Splenic|Infarcts, Splenic|Splenic Infarctions|Splenic Infarcts
C562682||Methionine Malabsorption Syndrome|Oasthouse Urine Disease|Smith-Strang Disease
C536395||Neonatal herpes|Neonatal herpes simplex virus infection
C536396||Neonatal ovarian cyst|Fetal ovarian cyst
C562680||Cystathionase Deficiency
C536393||Fairbank disease|Dysplasia epiphysealis multiplex|Epiphyseal dysplasia Fairbank type|Epiphyseal Dysplasia, Fairbank Type|Epiphyseal Dysplasia, Ribbing Type|Fairbank multiple epiphyseal dysplasia
C536399||Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor|Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor|Perlman Syndrome|Renal hamartomas, nephroblastomatosis, and fetal gigantism
609026|C563812||Cataract, Age-Related Cortical, 1|ARCC1|CATARACT 28|CATARACT, AGE-RELATED CORTICAL, 1|CTRCT28
C562684||Hyper-Beta-Alaninemia|Hyperalaninemia
C536397||Neonatal Systemic lupus erythematosus|Neonatal lupus|Neonatal lupus syndrome
D055091||Bronchomalacia|Bronchi Chondromalacia|Bronchi Chondromalacias|Bronchomalacias|Chondromalacia of Bronchi
D009902||Optic Neuritis|Anterior Optic Neuritides|Anterior Optic Neuritis|Neuritides, Anterior Optic|Neuritides, Optic|Neuritides, Posterior Optic|Neuritides, Retrobulbar|Neuritis, Anterior Optic|Neuritis, Optic|Neuritis, Posterior Optic|Neuritis, Retrobulbar|Neuropapillitides|Neuropapillitis|Optic Neuritides|Optic Neuritides, Anterior|Optic Neuritides, Posterior|Optic Neuritis, Anterior|Optic Neuritis, Posterior|Posterior Optic Neuritides|Posterior Optic Neuritis|Retrobulbar Neuritides|Retrobulbar Neuritis
D055092||Laryngomalacia|Chondromalacia of Larynx|Laryngomalacias|Larynx Chondromalacia|Larynx Chondromalacias
D009901||Optic Nerve Diseases|Cranial Nerve II Diseases|Cranial Nerve II Disorder|Disk Disorder, Optic|Disk Disorders, Optic|Foster Kennedy Syndrome|Foster-Kennedy Syndrome|Lesion, Neural-Optical|Lesions, Neural-Optical|Neural Optical Lesion|Neural-Optical Lesion|Neural-Optical Lesions|Neuropathies, Optic|Neuropathy, Optic|Optic Disk Disorder|Optic Disk Disorders|Optic Nerve Disease|Optic Neuropathies|Optic Neuropathy|Second Cranial Nerve Diseases|Syndrome, Foster-Kennedy
D055093||Periodontal Atrophy|Atrophy of Periodontium|Gingivo-Osseous Atrophies|Gingivo Osseous Atrophy|Gingivo-Osseous Atrophy|Periodontal Atrophies|Periodontium Atrophies|Periodontium Atrophy
D001184||Articulation Disorders|Articulation Disorder|Articulation Disorder, Developmental|Articulation Disorders, Developmental|Articulation Disorder, Speech|Articulation Disorders, Speech|Articulations, Unintelligible|Articulation, Unintelligible|Developmental Articulation Disorder|Developmental Articulation Disorders|Disarticulation Disorder|Disarticulation Disorders|Disorder, Disarticulation|Disorders, Disarticulation|Impairment, Phonological|Impairment, Phonology|Impairments, Phonological|Impairments, Phonology|Misarticulation|Phonological Impairment|Phonological Impairments|Phonology Impairment|Phonology Impairments|Speech Articulation Disorder|Speech Articulation Disorders|Unintelligible Articulation|Unintelligible Articulations
C562689||Rickets, Hereditary Vitamin D-Resistant|Generalized Resistance To 1,25-Dihydroxyvitamin D|Hypocalcemic Vitamin D-Resistant Rickets|Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol
C536392||Factor 8 deficiency, acquired|Factor VIII deficiency, acquired|Hemophilia A, acquired
D055090||Tracheomalacia|Chondromalacia of Trachea|Trachea Chondromalacia|Trachea Chondromalacias|Tracheomalacias
D055089||Tracheobronchomalacia|Chondromalacia of Trachea and Bronchi|Syndrome, Williams-Campbell|Tracheobronchomalacias|Williams Campbell Syndrome|Williams-Campbell Syndrome
C565289|605809||Myasthenia, Familial Infantile, 1|CMS1A1|CMS Ia1|Congenital Myasthenic Syndrome Type Ia1|FIM1
607417|C564404||Mental Retardation, Autosomal Recessive 2|Mental Retardation, Autosomal Recessive 2A|MRT2|MRT2A
D013166||Spondylitis|Spondylitides
D014496||Urachal Cyst|Cysts, Umbilical|Cysts, Urachal|Cyst, Umbilical|Cyst, Urachal|Umbilical Cyst|Umbilical Cysts|Urachal Cysts
D013163||Splenomegaly|Enlarged Spleen|Spleen, Enlarged
C537559|123150||Jackson-Weiss syndrome|Acrocephalosyndactyly Jackson Weiss type|Craniosynostosis, midfacial hypoplasia, and foot abnormalities|Enlarged great toes and craniofacial abnormalities|JWS
D013169||Spondylolysis|Spondylolyses
D013168||Spondylolisthesis|Spondylistheses|Spondylisthesis|Spondylolistheses
D001159||Arterio-Arterial Fistula|Arterio Arterial Fistula|Arterio-Arterial Fistulas|Fistula, Arterio-Arterial|Fistulas, Arterio-Arterial
C562654||Hypokalemia, Familial|Gullner Syndrome|Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy
C562651||Ethanolaminosis|Ethanolamine Kinase Deficiency
C563982||Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
D003103|120200||Coloboma|COI|Coloboma, Ocular|Coloboma Of Iris, Choroid, And Retina|Colobomas|Coloboma, Uveoretinal|Ocular Coloboma|Uveoretinal Coloboma
C562658||Tryptophanuria With Dwarfism
149200|C537210||Knuckle pads, leuconychia and sensorineural deafness|Bart Pumphrey syndrome|Bart-Pumphrey Syndrome|Knuckle Pads, Leukonychia, and Sensorineural Deafness|Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris
C559045||Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
D001157||Arterial Occlusive Diseases|Arterial Obstructive Disease|Arterial Obstructive Diseases|Arterial Occlusive Disease|Disease, Arterial Obstructive|Disease, Arterial Occlusive|Diseases, Arterial Obstructive|Diseases, Arterial Occlusive|Obstructive Disease, Arterial|Obstructive Diseases, Arterial|Occlusive Disease, Arterial|Occlusive Diseases, Arterial
C562659||Tyrosinosis
D002485||Cementoma|Cementomas
D001161||Arteriosclerosis|Arterioscleroses
C563730|609352||Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
607921|C564310||Retinitis Pigmentosa 30|MACULAR DEGENERATION, INCLUDED|RP30
D013130||Spinal Stenosis|Spinal Stenoses|Stenoses, Spinal|Stenosis, Spinal
D015792||Retinal Dysplasia|Dysplasia, Retinal|Dysplasias, Retinal|Retinal Dysplasias
C563990||Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy|CARASIL|Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease|Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension|MAEDA Syndrome|Nemoto Disease|Subcortical Vascular Encephalopathy, Progressive
612783|C557827||Immune dysfunction with T-cell inactivation due to calcium entry defect 2|IMD10|IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2|IMMUNODEFICIENCY 10|STIM1 DEFICIENCY
C563994||Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects
C562662||Brown Oculocutaneous Albinism|Albinism, Brown Oculocutaneous
C562663||BADS Syndrome|Black Locks with Albinism and Deafness Syndrome
D001165||Arteriovenous Malformations|Arteriovenous Malformation|Malformation, Arteriovenous|Malformations, Arteriovenous
C567847|612949||Hypomyelination, Global Cerebral|AGC1 Deficiency|Aspartate-Glutamate Carrier 1 Deficiency
D001164||Arteriovenous Fistula|Aneurysm, Arteriovenous|Arteriovenous Aneurysm|Arteriovenous Fistulas|Fistula, Arteriovenous|Fistulas, Arteriovenous
C562669||Hydroxyprolinemia|4-Hydroxy-L-Proline Oxidase Deficiency
D014890|608710||Wegener Granulomatosis|Granulomatosis, Wegener|Granulomatosis, Wegener&apos;s|GRANULOMATOSIS WITH POLYANGITIS|Wegener&apos;s Granulomatosis|WG
C563997||Dysphasia, Familial Developmental
D001162||Arteriosclerosis Obliterans|Obliterans, Arteriosclerosis
C564538|300301||Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema|OLEDAID
D001169||Arthritis, Experimental|Adjuvant Arthritis|Arthritides, Collagen|Arthritis, Adjuvant|Arthritis, Adjuvant-Induced|Arthritis, Collagen|Arthritis, Collagen-Induced|Collagen Arthritides|Collagen Arthritis|Collagen-Induced Arthritides|Collagen-Induced Arthritis
D002493||Central Nervous System Diseases|Central Nervous System Disorders|CNS Disease|CNS Diseases
176780|D056887||Pelvic Organ Prolapse|Organ Prolapse, Pelvic|Organ Prolapses, Pelvic|Pelvic Organ Prolapses|PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO|PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2|PROLAPSE OF VAGINA AND RECTUM|Prolapse, Pelvic Organ|Prolapses, Pelvic Organ|Prolapses, Urogenital|Prolapses, Vaginal Vault|Prolapse, Urogenital|Prolapse, Vaginal Vault|PVOP1, INCLUDED|PVOP2|RECTAL PROLAPSE|Urogenital Prolapse|Urogenital Prolapses|VAGINAL PROLAPSE PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 1, INCLUDED|Vaginal Vault Prolapse|Vaginal Vault Prolapses|Vault Prolapses, Vaginal|Vault Prolapse, Vaginal
D001168||Arthritis|Arthritides|Polyarthritides|Polyarthritis
D002494||Central Nervous System Infections|Central Nervous System Infection|Infections, Central Nervous System
275120||THYROTROPIN-RELEASING HORMONE DEFICIENCY|HYPOTHALAMIC HYPOTHYROIDISM|TRH DEFICIENCY
D001167||Arteritis|Arterial Inflammation|Arteritides|Inflammation, Arterial
C564727|300030||Deafness, X-Linked 3|Deafness, X-Linked 4, Congenital Sensorineural|DFN4|DFNX3
114580|C567779||Candidiasis, Familial, 1|CANDF1|Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, With Or Without Thyroid Disease|CMCT
D064807||Anticholinergic Syndrome|Anticholinergic Syndrome, Central|Anticholinergic Syndrome, Peripheral|Anticholinergic Syndromes|Anticholinergic Syndromes, Central|Anticholinergic Syndromes, Peripheral|Central Anticholinergic Syndrome|Central Anticholinergic Syndromes|Peripheral Anticholinergic Syndrome|Peripheral Anticholinergic Syndromes|Syndrome, Anticholinergic|Syndrome, Central Anticholinergic|Syndrome, Peripheral Anticholinergic|Syndromes, Anticholinergic|Syndromes, Central Anticholinergic|Syndromes, Peripheral Anticholinergic
D001171||Arthritis, Juvenile|Arthritis, Juvenile Chronic|Arthritis, Juvenile Enthesitis-Related|Arthritis, Juvenile Idiopathic|Arthritis, Juvenile Psoriatic|Arthritis, Juvenile Rheumatoid|Arthritis, Juvenile Systemic|Chronic Arthritis, Juvenile|Enthesitis Related Arthritis, Juvenile|Enthesitis-Related Arthritis, Juvenile|Idiopathic Arthritis, Juvenile|Juvenile Arthritis|Juvenile Chronic Arthritis|Juvenile Enthesitis-Related Arthritis|Juvenile Idiopathic Arthritis|Juvenile Oligoarthritis|Juvenile Onset Still Disease|Juvenile-Onset Still Disease|Juvenile Onset Stills Disease|Juvenile-Onset Still&apos;s Disease|Juvenile-Onset Stills Disease|Juvenile Psoriatic Arthritis|Juvenile Rheumatoid Arthritis|Juvenile Systemic Arthritis|Oligoarthritis, Juvenile|Polyarthritis, Juvenile, Rheumatoid Factor Negative|Polyarthritis, Juvenile, Rheumatoid Factor Positive|Psoriatic Arthritis, Juvenile|Rheumatoid Arthritis, Juvenile|Still Disease, Juvenile Onset|Still Disease, Juvenile-Onset|Still&apos;s Disease, Juvenile Onset|Still&apos;s Disease, Juvenile-Onset|Stills Disease, Juvenile-Onset|Systemic Arthritis, Juvenile
D064806||Dysbiosis|Disbacterioses|Disbacteriosis|Disbioses|Disbiosis|Dysbacterioses|Dysbacteriosis|Dysbioses|Dys-symbioses|Dys symbiosis|Dys-symbiosis
C566138|118210||Charcot-Marie-Tooth Disease, Axonal, Type 2a1|Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1|Charcot-Marie-Tooth Disease, Neuronal, Type 2a1|Charcot-Marie-Tooth Neuropathy, Type 2A1|CMT2A1|Hereditary Motor And Sensory Neuropathy IIA1|HMSN2A1|HMSN IIA1
D001170||Arthritis, Infectious|Arthritides, Bacterial|Arthritides, Infectious|Arthritides, Septic|Arthritides, Suppurative|Arthritides, Viral|Arthritis, Bacterial|Arthritis, Septic|Arthritis, Suppurative|Arthritis, Viral|Bacterial Arthritides|Bacterial Arthritis|Infectious Arthritides|Infectious Arthritis|Septic Arthritides|Septic Arthritis|Suppurative Arthritides|Suppurative Arthritis|Viral Arthritides|Viral Arthritis
D014474||Unconsciousness|Consciousness, Loss of|Loss of Consciousness|State, Unconscious|Unconscious State|Unconscious States
D013145||Spirochaetales Infections|Infection, Spirochaetales|Infection, Spirochete|Infections, Spirochaetales|Infections, Spirochete|Spirochaetales Infection|Spirochete Infection|Spirochete Infections
606657||GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO|GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO|NPG|NTG
C536461||Waaler Aarskog syndrome
C537792||Axial osteosclerosis|Osteomesopyknosis
C537793||Ayazi syndrome|Choroideremia deafness obesity|Choroideremia, obesity, and congenital deafness|Choroideremia with Deafness and Obesity
D001259||Ataxia|Appendicular Ataxia|Appendicular Ataxias|Ataxia, Appendicular|Ataxia, Limb|Ataxia, Motor|Ataxias|Ataxias, Appendicular|Ataxia, Sensory|Ataxias, Limb|Ataxias, Motor|Ataxias, Sensory|Ataxias, Truncal|Ataxia, Truncal|Ataxy|Coordination Impairment|Coordination Impairments|Coordination Lack|Dyscoordination|Dyssynergia|Impairment, Coordination|Impairments, Coordination|Incoordination|Incoordinations|Lack of Coordination|Limb Ataxia|Limb Ataxias|Motor Ataxia|Motor Ataxias|Rubral Tremor|Rubral Tremors|Sensory Ataxia|Sensory Ataxias|Tremor, Rubral|Tremors, Rubral|Truncal Ataxia|Truncal Ataxias
C537790||Axial mesodermal dysplasia spectrum|Russell Weaver Bull syndrome
C537791||Axial osteomalacia|Atypical osteomalacia involving the axial skeleton
C537796||Bagatelle Cassidy syndrome|Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|Macrocephaly short limbs deafness
D014570||Urologic Diseases|Diseases, Urinary Tract|Diseases, Urologic|Diseases, Urological|Disease, Urinary Tract|Disease, Urologic|Disease, Urological|Urinary Tract Disease|Urinary Tract Diseases|Urological Disease|Urological Diseases|Urologic Disease
C562753||Nasal Bones, Absence of|Nasal Cartilages, Agenesis of
C537797||Bahemuka Brown syndrome|Spastic paraplegia facial cutaneous lesions
C537794||Baby rattle pelvic dysplasia
C562751||Epistaxis, Hereditary
C537795||Baetz-Greenwalt syndrome|Hypoplastic right-sided heart complex
C562757||Ciliary Discoordination Due To Random Ciliary Orientation|Rutland Ciliary Disorientation Syndrome
D001251||Astigmatism
D001250||Asthma, Exercise-Induced|Asthma, Exercise Induced|Asthmas, Exercise-Induced|Bronchospasm, Exercise Induced|Bronchospasm, Exercise-Induced|Bronchospasms, Exercise-Induced|Exercise Induced Asthma|Exercise-Induced Asthma|Exercise-Induced Asthmas|Exercise Induced Bronchospasm|Exercise-Induced Bronchospasm|Exercise-Induced Bronchospasms
D002581||Uterine Cervical Incompetence|Cervical Incompetence, Uterine|Cervices, Incompetent|Cervix Incompetence|Cervix, Incompetent|Incompetence, Cervix|Incompetence, Uterine Cervical|Incompetent Cervices|Incompetent Cervix
613730||HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS|HDBSCC
D001254||Astrocytoma|Anaplastic Astrocytoma|Anaplastic Astrocytomas|Astrocytic Glioma|Astrocytic Gliomas|Astrocytoma, Anaplastic|Astrocytoma, Cerebral|Astrocytoma, Childhood Cerebral|Astrocytoma, Fibrillary|Astrocytoma, Gemistocytic|Astrocytoma, Grade I|Astrocytoma, Grade II|Astrocytoma, Grade III|Astrocytoma, Intracranial|Astrocytoma, Juvenile Pilocytic|Astrocytoma, Pilocytic|Astrocytoma, Protoplasmic|Astrocytomas|Astrocytomas, Anaplastic|Astrocytomas, Cerebral|Astrocytomas, Childhood Cerebral|Astrocytomas, Fibrillary|Astrocytomas, Gemistocytic|Astrocytomas, Grade I|Astrocytomas, Grade II|Astrocytomas, Grade III|Astrocytomas, Intracranial|Astrocytomas, Juvenile Pilocytic|Astrocytomas, Pilocytic|Astrocytomas, Protoplasmic|Astrocytoma, Subependymal Giant Cell|Astroglioma|Astrogliomas|Cerebral Astrocytoma|Cerebral Astrocytoma, Childhood|Cerebral Astrocytomas|Cerebral Astrocytomas, Childhood|Childhood Cerebral Astrocytoma|Childhood Cerebral Astrocytomas|Fibrillary Astrocytoma|Fibrillary Astrocytomas|Gemistocytic Astrocytoma|Gemistocytic Astrocytomas|Glioma, Astrocytic|Gliomas, Astrocytic|Grade I Astrocytoma|Grade I Astrocytomas|Grade II Astrocytoma|Grade II Astrocytomas|Grade III Astrocytoma|Grade III Astrocytomas|Intracranial Astrocytoma|Intracranial Astrocytomas|Juvenile Pilocytic Astrocytoma|Juvenile Pilocytic Astrocytomas|Mixed Oligoastrocytoma|Mixed Oligoastrocytomas|Oligoastrocytoma, Mixed|Oligoastrocytomas, Mixed|Pilocytic Astrocytoma|Pilocytic Astrocytoma, Juvenile|Pilocytic Astrocytomas|Pilocytic Astrocytomas, Juvenile|Protoplasmic Astrocytoma|Protoplasmic Astrocytomas|Subependymal Giant Cell Astrocytoma
C565772|604432||Spinocerebellar Ataxia 11|SCA11
C562759||Bundle Branch Block, Familial Isolated Complete Right
613723||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q|LGMD2Q
613724||LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY|STEROL CARRIER PROTEIN 2 DEFICIENCY
D002590||Cestode Infections|Bertielliases|Bertielliasis|Cenuriases|Cenuriasis|Cestode Infection|Coenuriases|Coenuriasis|Dipylidiases|Dipylidiasis|Infection, Cestode|Infections, Cestode|Infections, Tapeworm|Infection, Tapeworm|Raillietiniases|Raillietiniasis|Tapeworm Infection|Tapeworm Infections
613729||CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB|DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
D013231||Steatitis|Steatitides
C537789||Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss|Axenfeld-Rieger anomaly with atrial septal defect and sensorineural hearing loss
C563834|608907||Alzheimer Disease 9|AD9|Alzheimer Disease 9, Late-Onset
233300||OVARIAN DYSGENESIS 1|GONADAL DYSGENESIS, XX TYPE|ODG1|OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE|OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE|OVARIAN FAILURE, HYPERGONADOTROPIC|XXGD|XX GONADAL DYSGENESIS
C537787||Aphalangia syndactyly microcephaly
608244|C564268||Otosclerosis 3|OTSC3
C537788||Aplasia cutis congenita intestinal lymphangiectasia|ACC with intestinal lymphangiectasia|Aplasia Cutis Congenita With Intestinal Lymphangiectasia
D014565||Urogenital Neoplasms|Cancer, Genitourinary|Cancer, Genito-urinary|Cancers, Genitourinary|Cancers, Genito-urinary|Cancers, Urogenital|Cancer, Urogenital|Genito urinary Cancer|Genito-urinary Cancer|Genitourinary Cancer|Genito-urinary Cancers|Genitourinary Cancers|Genito-urinary Neoplasm|Genitourinary Neoplasm|Genito-urinary Neoplasms|Genitourinary Neoplasms|Neoplasm, Genitourinary|Neoplasm, Genito-urinary|Neoplasms, Genitourinary|Neoplasms, Genito-urinary|Neoplasms, Urogenital|Neoplasm, Urogenital|Urogenital Cancer|Urogenital Cancers|Urogenital Neoplasm
C537786|610256||Aphakia, congenital primary|Congenital primary aphakia
D014564||Urogenital Abnormalities|Abnormalities, Genitourinary|Abnormalities, Urogenital|Abnormality, Genitourinary|Abnormality, Urogenital|Genitourinary Abnormalities|Genitourinary Abnormality|Urogenital Abnormality
C536472||Upington disease|Familial dyschondroplasia|Perthes-like hip disease, enchondromata, and ecchondromata
C562760||Capillary Malformations, Congenital, 1|Capillary Malformations
C536473||Upton Young syndrome|Mental retardation and multiple nevi|Severe developmental delay and multiple strawberry naevi
C536470||Uniparental disomy of chromosome 2|Uniparental disomy of 2
C536471||Uniparental disomy, paternal, chromosome 14|Paternal uniparental disomy 14
155600||MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1|B-K MOLE SYNDROME|CMM|CMM1|DNS|DYSPLASTIC NEVUS SYNDROME, HEREDITARY|FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME|FAMMM|MELANOMA, CUTANEOUS MALIGNANT|MELANOMA, FAMILIAL|MELANOMA, MALIGNANT|MLM
C536476||Urban Schosser Spohn syndrome|Hereditary mucoepithelial dysplasia|Mucoepithelial dysplasia, Hereditary
D014581||Urticaria|Hives|Urticarias
609069|C563796||Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis|DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS|PACA|Pancreatic and Cerebellar Agenesis
C536477||Urethral obstruction sequence|Early urethral obstruction sequence
C566460|609646||Deafness, Autosomal Recessive 42|DFNB42
C562761||Splenoportal Vascular Anomalies
C536474||Urachal adenocarcinoma|Adenocarcinoma of the urachus
155601||MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2|CMM2
C536475||Urachal cancer|Urachal carcinoma
D001264||Athetosis|Athetoid Movement|Athetoid Movements|Athetoses|Disease, Hammond|Disease, Hammond&apos;s|Diseases, Hammond|Diseases, Hammond&apos;s|Hammond Disease|Hammond Diseases|Hammond&apos;s Disease|Hammonds Disease|Hammond&apos;s Diseases|Movement, Athetoid|Movements, Athetoid
C564246|608394||Deafness, Autosomal Dominant 43|DFNA43
C562768||Hypothyroidism, Autoimmune
C536928|276300||Turcot syndrome|Brain Tumor-Polyposis Syndrome 1|BTP1 SYNDROME|BTPS1|CHILDHOOD CANCER SYNDROME|CMMRDS|CNS tumors with Familial polyposis of the colon|CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME|Mismatch Repair Cancer Syndrome|Mismatch Repair Deficiency|MMRCS|MMR Deficiency|TURCOT SYNDROME
C562765||Esophageal Ring, Lower
D002598||Chagas Cardiomyopathy|Cardiomyopathy, Chagas|Cardiomyopathy, Chagas&apos;|Cardiovascular Trypanosomiasis|Chagas&apos; Cardiomyopathy|Myocarditis, Chagas|Trypanosomiasis, Cardiovascular
D001261||Pulmonary Atelectasis|Atelectases|Atelectases, Compression|Atelectases, Compression Pulmonary|Atelectases, Congestive|Atelectases, Congestive Pulmonary|Atelectases, Contraction Pulmonary|Atelectases, Postoperative Pulmonary|Atelectases, Pulmonary|Atelectases, Resorption|Atelectases, Resorption Pulmonary|Atelectasis|Atelectasis, Compression|Atelectasis, Compression Pulmonary|Atelectasis, Congestive|Atelectasis, Congestive Pulmonary|Atelectasis, Contraction Pulmonary|Atelectasis, Postoperative Pulmonary|Atelectasis, Pulmonary|Atelectasis, Resorption|Atelectasis, Resorption Pulmonary|Collapse, Lung|Compression Atelectases|Compression Atelectasis|Compression Pulmonary Atelectases|Compression Pulmonary Atelectasis|Congestive Atelectases|Congestive Atelectasis|Congestive Pulmonary Atelectases|Congestive Pulmonary Atelectasis|Contraction Pulmonary Atelectases|Contraction Pulmonary Atelectasis|Lung Collapse|Postoperative Pulmonary Atelectases|Postoperative Pulmonary Atelectasis|Pulmonary Atelectases|Pulmonary Atelectases, Compression|Pulmonary Atelectases, Congestive|Pulmonary Atelectases, Contraction|Pulmonary Atelectases, Postoperative|Pulmonary Atelectases, Resorption|Pulmonary Atelectasis, Compression|Pulmonary Atelectasis, Congestive|Pulmonary Atelectasis, Contraction|Pulmonary Atelectasis, Postoperative|Pulmonary Atelectasis, Resorption|Resorption Atelectases|Resorption Atelectasis|Resorption Pulmonary Atelectases|Resorption Pulmonary Atelectasis
613720||EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7|EIEE7
613721||EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11|EIEE11
D001265||Athletic Injuries|Athletic Injury|Injuries, Athletic|Injuries, Sports|Injury, Athletic|Injury, Sports|Sports Injuries|Sports Injury
613722||EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12|EIEE12
D064706||Vocal Cord Dysfunction|Dysfunctions, Vocal Cord|Dysfunction, Vocal Cord|Exercise Induced Vocal Cord Dysfunction|Exercise-Induced Vocal Cord Dysfunction|Paradoxical Vocal Fold Motion|Paradoxical Vocal Fold Motion Disorder|Vocal Cord Dysfunctions
613717||TREACHER COLLINS SYNDROME 2|TCS2
613718||DEAFNESS, AUTOSOMAL RECESSIVE 74|DFNB74
120970||CONE-ROD DYSTROPHY 2|CONE-ROD DYSTROPHY|CONE-ROD RETINAL DYSTROPHY|CORD|CORD2|CRD|CRD2|RCRD2|RETINAL CONE-ROD DYSTROPHY
C536469||Uniparental disomy of 13|Maternal uniparental disomy of chromosome 13|Paternal uniparental disomy 13|Paternal uniparental disomy of chromosome 13|Uniparental disomy of chromosome 13
C536467||Waardenburg syndrome, type 4|Hirschsprung disease with pigmentary anomaly|Shah-Waardenburg syndrome|Waardenburg-Hirschsprung disease|Waardenburg-Shah syndrome|Waardenburg Syndrome, Type 4a|Waardenburg Syndrome, Type Iva|Waardenburg Syndrome With Hirschsprung Disease, Type 4a
C537798||Fetal trimethadione syndrome|Trimethadione embryopathy
C536468||Uniparental disomy of 11|Paternal uniparental disomy for chromosome 11(type)|Uniparental disomy of chromosome 11
D014571||Urologic Neoplasms|Cancer of the Urinary Tract|Cancer of Urinary Tract|Cancers, Urinary Tract|Cancers, Urologic|Cancers, Urological|Cancer, Urinary Tract|Cancer, Urologic|Cancer, Urological|Neoplasms, Urinary Tract|Neoplasms, Urologic|Neoplasms, Urological|Neoplasm, Urinary Tract|Neoplasm, Urologic|Neoplasm, Urological|Tract Neoplasms, Urinary|Tract Neoplasm, Urinary|Urinary Tract Cancer|Urinary Tract Cancers|Urinary Tract Neoplasm|Urinary Tract Neoplasms|Urological Cancer|Urological Cancers|Urological Neoplasm|Urological Neoplasms|Urologic Cancer|Urologic Cancers|Urologic Neoplasm
C536168|148210||Keratitis, Ichthyosis, and Deafness (KID) Syndrome|Keratitis-ichthyosis-deafness syndrome, autosomal dominant|KID syndrome|Kid Syndrome, Autosomal Dominant
C566579|602093||Cone Dystrophy 3|COD3|Cone-Rod Dystrophy 14|CORD14|CORD14, INCLUDED|Retinal Cone Dystrophy|RETINAL CONE DYSTROPHY CONE-ROD DYSTROPHY 14, INCLUDED
C536483||Uropathy distal obstructive polydactyly
D001238||Asphyxia Neonatorum
D001237||Asphyxia|Asphyxias|Suffocation|Suffocations
C536481||Urogenital adysplasia
C562730||Adenocarcinoma Of Esophagus
C562731||Teratoma, Ovarian|Dermoid Cyst, Ovarian
C565706|610198||3-Methylglutaconic Aciduria, Type V|Cardiomyopathy, Dilated, with Ataxia|DCMA|MGA5|MGA, Type V|MGCA5
C562732||Euthyroid Goiter
C562738||Histiocytosis, Familial Lipochrome
C562739||Cloacogenic Carcinoma
D002561||Cerebrovascular Disorders|Brain Vascular Disorder|Brain Vascular Disorders|Cerebrovascular Disorder|Cerebrovascular Insufficiencies|Cerebrovascular Insufficiency|Cerebrovascular Occlusion|Cerebrovascular Occlusions|Insufficiencies, Cerebrovascular|Insufficiency, Cerebrovascular|Intracranial Vascular Disease|Intracranial Vascular Diseases|Intracranial Vascular Disorder|Intracranial Vascular Disorders|Occlusion, Cerebrovascular|Occlusions, Cerebrovascular|Vascular Disease, Intracranial|Vascular Diseases, Intracranial|Vascular Disorder, Brain|Vascular Disorder, Intracranial|Vascular Disorders, Brain|Vascular Disorders, Intracranial
C563750|609283||Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2|PEOA2|Progressive External Ophthalmoplegia, Autosomal Dominant, 2
C562737||Connective Tissue Nevus
D013217||Starvation|Famine|Famines|Starvations
D014549||Urinary Incontinence|Incontinence, Urinary
613702||KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT|KFS3
D014548||Urinary Fistula|Fistulas, Urinary|Fistula, Urinary|Urinary Fistulas
613703||MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6|MCOPCB6
D015878||Mydriasis
613704||MICROPHTHALMIA, ISOLATED 7|MCOP7
D015877||Miosis|Constricted Pupil|Constricted Pupils|Mioses|Mioses, Persistent|Mioses, Pupillary|Miosis, Persistent|Miosis, Pupillary|Persistent Mioses|Persistent Miosis|Pupil, Constricted|Pupillary Mioses|Pupillary Miosis|Pupils, Constricted|Pupil, Small|Pupils, Small|Small Pupil|Small Pupils
613706||NOONAN SYNDROME 7|NS7
613707||LEOPARD SYNDROME 3
D005173|612416||Factor XI Deficiency|Deficiencies, Factor XI|Deficiency, Factor XI|F11 DEFICIENCY|Factor XI Deficiencies|Hemophilia C|Plasma Thromboplastin Antecedent Deficiency|PTA DEFICIENCY|Rosenthal&apos;s Syndrome|Rosenthals Syndrome|Rosenthal&apos;s Syndromes|Rosenthal Syndrome|Rosenthal Syndromes|Syndrome, Rosenthal|Syndrome, Rosenthal&apos;s
C536478||Urioste Martinez-Frias syndrome|Urioste syndrome
D014545||Urinary Calculi|Calculi, Urinary|Calculus, Urinary|Stones, Urinary|Stones, Urinary Tract|Stone, Urinary|Stone, Urinary Tract|Urinary Calculus|Urinary Stone|Urinary Stones|Urinary Tract Stone|Urinary Tract Stones
D015875||Anisocoria|Anisocoria, Physiologic|Inequality, Pupillary Size|Physiologic Anisocoria|Pupil Diameter Unequal|Pupillary Size Inequality
C566504|609622||Short QT Syndrome 3|SQT3
C563354|601316||Deafness, Autosomal Dominant 10|DFNA10
C567032|610992||Phosphoserine Aminotransferase Deficiency|PSATD|PSAT Deficiency
C536495||VACTERL association|VACTEL Association|VACTERL Syndrome|Vertebral Anal Tracheoesophageal Esophageal Radial anomalies
D001248||Asthenopia|Eye Fatigue|Eyestrain|Fatigue, Eye|Fatigue, Visual|Visual Fatigue
C538138|307030||Hyperglycerolemia|GK1 DEFICIENCY|GKD|GK DEFICIENCY|Glycerol kinase deficiency|HYPERGLYCEROLEMIA
D001247||Asthenia|Asthenias
C562741||Adamantinoma Of Long Bones
D002578||Uterine Cervical Dysplasia|Cervical Dysplasia, Uterine|Cervix Dysplasia|Dysplasia, Cervix|Dysplasia, Uterine Cervical
C562742||Blepharochalasis And Double Lip|Ascher Syndrome
D002579||Uterine Cervical Erosion|Cervical Erosion, Uterine|Cervix Erosion|Cervix Erosion, Uterine|Erosion, Cervix|Erosion, Uterine Cervical|Erosion, Uterine Cervix|Uterine Cervix Erosion
C536499||Tetra-amelia with pulmonary hypoplasia|Absence of upper and lower limbs with pulmonary hypoplasia|Syndrome of tetraamelia with pulmonary hypoplasia
C567640|613329||Plasminogen Activator Inhibitor-1 Deficiency|Hyperfibrinolysis Due To Pai1 Deficiency
C536496||Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities|Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities|Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
C562740||Hemangiopericytoma, Malignant
C536497||X-linked tetra-amelia|Tetra- amelia X-linked
D002575||Uterine Cervicitis|Cervicitides|Cervicitides, Uterine|Cervicitis|Cervicitis, Uterine|Uterine Cervicitides
D002577||Uterine Cervical Diseases|Cervical Diseases, Uterine|Cervical Disease, Uterine|Cervix Disease|Cervix Diseases|Disease, Cervix|Diseases, Cervix|Diseases, Uterine Cervical|Disease, Uterine Cervical|Uterine Cervical Disease
C536491||Usher syndrome, type 2B
C537316|301840||Spinocerebellar ataxia, X-linked, 4|Ataxia-dementia syndrome, X-linked|SCAX4|Spinocerebellar Ataxia, X-Linked 4
C565607|224750||Schopf-Schulz-Passarge Syndrome|Eccrine Tumors With Ectodermal Dysplasia|Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis|SSPS
D002573||Cervical Rib Syndrome|Anomalous Cervical Rib Syndrome|Cervical Rib Cervical Band Syndrome|Cervical-Rib-Cervical-Band Syndrome|Cervical Rib Syndromes|Naffziger&apos;s Syndrome|Naffziger&apos;s Syndromes|Naffziger Syndrome|Naffziger Syndromes|Syndrome, Cervical Rib|Syndrome, Cervical-Rib-Cervical-Band|Syndrome, Naffziger|Syndrome, Naffziger&apos;s|Syndromes, Cervical Rib|Syndromes, Naffziger|Syndromes, Naffziger&apos;s
613700||SUPERNUMERARY DER(22)t(8|22) SYNDROME
D064726||Triple Negative Breast Neoplasms|Breast Cancers, Triple-Negative|Breast Cancer, Triple-Negative|Breast Neoplasms, Triple-Negative|Breast Neoplasm, Triple-Negative|ER Negative PR Negative HER2 Negative Breast Cancer|ER-Negative PR-Negative HER2-Negative Breast Cancer|ER Negative PR Negative HER2 Negative Breast Neoplasms|ER-Negative PR-Negative HER2-Negative Breast Neoplasms|Triple Negative Breast Cancer|Triple-Negative Breast Cancer|Triple-Negative Breast Cancers|Triple Negative Breast Neoplasm|Triple-Negative Breast Neoplasm|Triple-Negative Breast Neoplasms
C537207|156550||Kniest dysplasia|Kniest Chondrodystrophy|Kniest Syndrome|Swiss Cheese Cartilage Dysplasia
D013226||Status Epilepticus|Absence Status|Complex Partial Status Epilepticus|Electrographic Status Epilepticus|Generalized Convulsive Status Epilepticus|Generalized Status Epilepticus|Grand Mal Status Epilepticus|Non Convulsive Status Epilepticus|Non-Convulsive Status Epilepticus|Petit Mal Status|Simple Partial Status Epilepticus|Status, Absence|Status Epilepticus, Complex Partial|Status Epilepticus, Electrographic|Status Epilepticus, Generalized|Status Epilepticus, Generalized Convulsive|Status Epilepticus, Grand Mal|Status Epilepticus, Non Convulsive|Status Epilepticus, Non-Convulsive|Status Epilepticus, Simple Partial|Status Epilepticus, Subclinical|Status, Petit Mal|Subclinical Status Epilepticus
C536289|300584||Immunodeficiency without anhidrotic ectodermal dysplasia|Immunodeficiency, isolated|Immunodeficiency, pure
C566618|601815||Phosphoglycerate Dehydrogenase Deficiency|PHGDH Deficiency
D014552||Urinary Tract Infections|Infections, Urinary Tract|Infection, Urinary Tract|Tract Infections, Urinary|Tract Infection, Urinary|Urinary Tract Infection
D015882||Retinal Necrosis Syndrome, Acute|Acute Retinal Necroses|Acute Retinal Necrosis|Necroses, Acute Retinal|Necrosis, Acute Retinal|Retinal Necroses, Acute|Retinal Necrosis, Acute
D014550||Urinary Incontinence, Stress|Incontinence, Urinary Stress|Stress Incontinence, Urinary|Urinary Stress Incontinence
D013224||Status Asthmaticus|Asthmatic Crises|Asthmatic Crisis|Asthmatic Shock|Asthmatic Shocks|Asthmaticus, Status|Crises, Asthmatic|Crisis, Asthmatic|Shock, Asthmatic|Shocks, Asthmatic
C567750|613105||Choroidal Dystrophy, Central Areolar 2|CACD2|Central Areolar Choroidal Dystrophy-2|Macular Dystrophy, Progressive
D014555||Urination Disorders|Disorders, Urination|Disorder, Urination|Urination Disorder
D002549||Diffuse Cerebral Sclerosis of Schilder|Alper Disease|Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis|Alper&apos;s Disease|Alpers Disease|Alpers&apos; Disease|Alpers Huttenlocher Syndrome|Alpers-Huttenlocher Syndrome|Alpers Progressive Infantile Poliodystrophy|Alper&apos;s Syndrome|Alpers Syndrome|Alpers&apos; Syndrome|Alper Syndrome|Balo Concentric Sclerosis|Balo&apos;s Concentric Sclerosis|Cerebral Sclerosis, Diffuse|Concentric Sclerosis, Balo|Concentric Sclerosis, Balo&apos;s|Diffuse Cerebral Scleroses|Diffuse Cerebral Sclerosis|Diffuse Scleroses, Myelinoclastic|Diffuse Sclerosis, Myelinoclastic|Disease, Alpers&apos;|Disease, Schilder|Disease, Schilder&apos;s|Encephalitis Periaxialis|Encephalitis Periaxialis Concentrica|Encephalitis Periaxialis Diffusa|Myelinoclastic Diffuse Scleroses|Myelinoclastic Diffuse Sclerosis|Neuronal Degeneration Of Childhood With Liver Disease, Progressive|Poliodystrophia Cerebri|Progressive Neuronal Degeneration of Childhood with Liver Disease|Progressive Sclerosing Poliodystrophies|Progressive Sclerosing Poliodystrophy|Schilder Disease|Schilder&apos;s Disease|Schilders Disease|Scleroses, Balo&apos;s Concentric|Scleroses, Myelinoclastic Diffuse|Sclerosis, Diffuse Cerebral|Sclerosis, Myelinoclastic Diffuse|Sudanophilic Cerebral Sclerosis|Syndrome, Alpers|Syndrome, Alpers-Huttenlocher
D051437||Renal Insufficiency|Failure, Kidney|Failure, Renal|Failures, Kidney|Failures, Renal|Insufficiency, Kidney|Kidney Failure|Kidney Failures|Kidney Insufficiencies|Kidney Insufficiency|Renal Failure|Renal Failures|Renal Insufficiencies
612563|C567253||Diamond-Blackfan Anemia 8|DBA8
D002545||Brain Ischemia|Brain Ischemias|Cerebral Ischemia|Cerebral Ischemias|Encephalopathy, Ischemic|Ischemia, Brain|Ischemia, Cerebral|Ischemias, Cerebral|Ischemic Encephalopathies|Ischemic Encephalopathy
C536421||Prinzmetal&apos;s variant angina
D003876||Dermatitis, Atopic|Atopic Dermatitides|Atopic Dermatitis|Atopic Eczema|Atopic Neurodermatitides|Atopic Neurodermatitis|Dermatitides, Atopic|Disseminated Neurodermatitides|Disseminated Neurodermatitis|Eczema, Atopic|Eczema, Infantile|Infantile Eczema|Neurodermatitides, Atopic|Neurodermatitides, Disseminated|Neurodermatitis, Atopic|Neurodermatitis, Disseminated
C537752||Onychotrichodysplasia and neutropenia|Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome
D002546||Ischemic Attack, Transient|Anterior Circulation Transient Ischemic Attack|Attacks, Transient Ischemic|Attack, Transient Ischemic|Brainstem Ischemias, Transient|Brainstem Ischemia, Transient|Brain Stem Ischemia, Transient|Brainstem Transient Ischemic Attack|Brain Stem Transient Ischemic Attack|Brain TIA|Carotid Circulation Transient Ischemic Attack|Cerebral Ischemias, Transient|Cerebral Ischemia, Transient|Crescendo Transient Ischemic Attacks|Ischemias, Transient Brainstem|Ischemias, Transient Cerebral|Ischemia, Transient Brainstem|Ischemia, Transient Cerebral|Ischemic Attacks, Transient|Posterior Circulation Transient Ischemic Attack|TIA, Brain|TIAs (Transient Ischemic Attack)|TIA (Transient Ischemic Attack)|Transient Brainstem Ischemia|Transient Cerebral Ischemia|Transient Cerebral Ischemias|Transient Ischemic Attack|Transient Ischemic Attack, Anterior Circulation|Transient Ischemic Attack, Brainstem|Transient Ischemic Attack, Brain Stem|Transient Ischemic Attack, Carotid Circulation|Transient Ischemic Attack, Posterior Circulation|Transient Ischemic Attacks|Transient Ischemic Attacks, Crescendo|Transient Ischemic Attack, Vertebrobasilar Circulation|Vertebrobasilar Circulation Transient Ischemic Attack
C536422||Progeria short stature pigmented nevi|Mulvihill-Smith Syndrome|Progeroid Short Stature with Pigmented Nevi
D003877||Dermatitis, Contact|Contact Dermatitides|Contact Dermatitis|Contact Eczema|Contact Hypersensitivities|Contact Hypersensitivity|Contact Sensitivities|Contact Sensitivity|Dermatitides, Contact|Dermatitis Venenata|Eczema, Contact|Hypersensitivities, Contact|Hypersensitivity, Contact|Sensitivities, Contact|Sensitivity, Contact
D002547||Cerebral Palsy|Athetoid Cerebral Palsy|Atonic Cerebral Palsy|Cerebral Palsies, Athetoid|Cerebral Palsies, Dyskinetic|Cerebral Palsies, Dystonic-Rigid|Cerebral Palsies, Monoplegic|Cerebral Palsy, Athetoid|Cerebral Palsy, Atonic|Cerebral Palsy, Congenital|Cerebral Palsy, Diplegic, Infantile|Cerebral Palsy, Dyskinetic|Cerebral Palsy, Dystonic Rigid|Cerebral Palsy, Dystonic-Rigid|Cerebral Palsy, Hypotonic|Cerebral Palsy, Mixed|Cerebral Palsy, Monoplegic|Cerebral Palsy, Monoplegic, Infantile|Cerebral Palsy, Quadriplegic, Infantile|Cerebral Palsy, Rolandic Type|Cerebral Palsy, Spastic|Congenital Cerebral Palsy|CP (Cerebral Palsy)|Diplegia, Spastic|Diplegias, Spastic|Diplegic Infantile Cerebral Palsy|Dyskinetic Cerebral Palsy|Dystonic-Rigid Cerebral Palsies|Dystonic-Rigid Cerebral Palsy|Hypotonic Cerebral Palsies|Hypotonic Cerebral Palsy|Infantile Cerebral Palsy, Diplegic|Infantile Cerebral Palsy, Monoplegic|Infantile Cerebral Palsy, Quadriplegic|Little Disease|Little&apos;s Disease|Mixed Cerebral Palsies|Mixed Cerebral Palsy|Monoplegic Cerebral Palsies|Monoplegic Cerebral Palsy|Monoplegic Infantile Cerebral Palsy|Quadriplegic Infantile Cerebral Palsy|Rolandic Type Cerebral Palsy|Spastic Cerebral Palsies|Spastic Cerebral Palsy|Spastic Diplegia|Spastic Diplegias
C537750||Oncocytoma, renal|Renal oncocytoma
C567098|613608||Epilepsy, Familial Adult Myoclonic, 3|CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3|FAME3|FCMTE3
C537934|603358||Finnish lethal neonatal metabolic syndrome|Fellman syndrome|Finnish, lactic acidosis with hepatic hemosiderosis|FINNISH LETHAL NEONATAL METABOLIC SYNDROME|FLNMS|GRACILE syndrome|GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH|Lactic Acidosis, Finnish, With Hepatic Hemosiderosis
C536420||Primrose syndrome
C537751||Oncogenic osteomalacia
D003872||Dermatitis|Dermatitides
D002542||Intracranial Embolism and Thrombosis|Brain Embolism and Thrombosis|Cerebral Embolism and Thrombosis|Embolism and Thrombosis, Brain
D003873||Dermatitis, Exfoliative|Dermatitides, Exfoliative|Dermatitis Exfoliativa|Erythroderma|Erythrodermas|Exfoliative Dermatitides|Exfoliative Dermatitis
D002543||Cerebral Hemorrhage|Brain Hemorrhage, Cerebral|Brain Hemorrhages, Cerebral|Cerebral Brain Hemorrhage|Cerebral Brain Hemorrhages|Cerebral Hemorrhages|Cerebral Parenchymal Hemorrhage|Cerebral Parenchymal Hemorrhages|Cerebrum Hemorrhage|Cerebrum Hemorrhages|Hemorrhage, Cerebral|Hemorrhage, Cerebral Brain|Hemorrhage, Cerebral Parenchymal|Hemorrhage, Cerebrum|Hemorrhage, Intracerebral|Hemorrhages, Cerebral|Hemorrhages, Cerebral Brain|Hemorrhages, Cerebral Parenchymal|Hemorrhages, Cerebrum|Hemorrhages, Intracerebral|Intracerebral Hemorrhage|Intracerebral Hemorrhages|Parenchymal Hemorrhage, Cerebral|Parenchymal Hemorrhages, Cerebral
D003874||Dermatitis Herpetiformis|Disease, Duhring|Disease, Duhring&apos;s|Duhring Disease|Duhring&apos;s Disease|Duhrings Disease
C562711||Adrenocortical Hypofunction, Chronic Primary Congenital|Addison Disease, Congenital
D064752||Atrial Remodeling|Atrium Remodeling|Cardiac Remodeling, Atrial|Electrical Remodeling|Myocardial Remodeling, Atrial|Remodeling, Atrial|Remodeling, Atrial Cardiac|Remodeling, Atrial Myocardial|Remodeling, Atrium|Remodeling, Electrical
D003875||Drug Eruptions|Dermatitis, Adverse Drug Reaction|Dermatitis Medicamentosa|Drug Eruption|Drug Eruption, Maculopapular|Drug Eruptions, Maculopapular|Drug Reaction, Morbilliform|Drug Reactions, Morbilliform|Eruption, Drug|Eruption, Maculopapular Drug|Eruptions, Drug|Eruptions, Maculopapular Drug|Exanthem, Maculopapular|Exanthem, Morbilliform|Exanthems, Maculopapular|Exanthems, Morbilliform|Maculopapular Drug Eruption|Maculopapular Drug Eruptions|Maculopapular Exanthem|Maculopapular Exanthems|Morbilliform Drug Reaction|Morbilliform Drug Reactions|Morbilliform Exanthem|Morbilliform Exanthems|Reaction, Morbilliform Drug|Reactions, Morbilliform Drug
C562716||Delta-Beta Thalassemia
C562717||Rh Deficiency Syndrome
C531816|102700||Severe combined immunodeficiency due to adenosine deaminase deficiency|ADA Deficiency|ADA-SCID|Adenosine deaminase deficiency|Adenosine Deaminase Deficiency, Partial|ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED|Adenosine Deaminase Deficient Severe Combined Immunodeficiency|Adenosine deaminase-deficient severe combined immunodeficiency disease|Agammaglobulinemia, Swiss type|Bubble boy disease|Delayed-Late-Onset Adenosine Deaminase Deficiency|Partial ADA Deficiency|PARTIAL ADA DEFICIENCY, INCLUDED|Partial adenosine deaminase deficiency|SCID1|SCID Due to ADA Deficiency|SCID Due to ADA Deficiency, Delayed Onset|SCID Due to ADA Deficiency, Early-Onset|SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED|SCID Due to ADA Deficiency, Late-Onset|SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED|Severe combined immunodeficiency, alymphocytotic type|Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
D063425||Binge Drinking|Drinking, Binge
C538278|176305||Preaxial deficiency, postaxial polydactyly and hypospadias|Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|Guttmacher syndrome|Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
607523|C564384||Toenail Dystrophy, Isolated|NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8|NDNC8|TOENAIL DYSTROPHY, ISOLATED
D015858||Anisometropia
D014526||Urethritis|Urethritides
D014525||Urethral Stricture|Anterior Urethral Stricture|Anterior Urethral Strictures|Posterior Urethral Stricture|Posterior Urethral Strictures|Stenoses, Urethral|Stenosis, Urethral|Strictures, Urethral|Stricture, Urethral|Urethral Stenoses|Urethral Stenosis|Urethral Stricture, Anterior|Urethral Stricture, Posterior|Urethral Strictures|Urethral Strictures, Anterior|Urethral Strictures, Posterior
C536589|104290||Alternating hemiplegia of childhood|AHC1|Alternating hemiplegia|ALTERNATING HEMIPLEGIA OF CHILDHOOD 1|Alternating hemiplegia syndrome
D014524||Urethral Obstruction|Obstructions, Urethral|Obstruction, Urethral|Urethral Obstructions
C537745||Olivopontocerebellar hypoplasia, fetal-onset|Pontocerebellar hypoplasia, type 5|Pontocerebellar Hypoplasia Type 5
C567768|613077||Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5|Peoa5|Progressive External Ophthalmoplegia, Autosomal Dominant, 5
C536413||Primary granulocytic sarcoma
C536418||Primary orthostatic tremor|Orthostatic tremor, primary|Shaky leg syndrome
C537749||Onat syndrome|Subaortic stenosis short stature syndrome|Subaortic Stenosis--Short Stature Syndrome
D014523||Urethral Neoplasms|Cancer of the Urethra|Cancer of Urethra|Cancers, Urethra|Cancers, Urethral|Cancer, Urethra|Cancer, Urethral|Neoplasms, Urethra|Neoplasms, Urethral|Neoplasm, Urethra|Neoplasm, Urethral|Urethra Cancer|Urethra Cancers|Urethral Cancer|Urethral Cancers|Urethral Neoplasm|Urethra Neoplasm|Urethra Neoplasms
D051436||Renal Insufficiency, Chronic|Chronic Kidney Disease|Chronic Kidney Diseases|Chronic Kidney Insufficiencies|Chronic Kidney Insufficiency|Chronic Renal Disease|Chronic Renal Diseases|Chronic Renal Insufficiencies|Chronic Renal Insufficiency|Disease, Chronic Kidney|Disease, Chronic Renal|Diseases, Chronic Kidney|Diseases, Chronic Renal|Kidney Disease, Chronic|Kidney Diseases, Chronic|Kidney Insufficiencies, Chronic|Kidney Insufficiency, Chronic|Renal Disease, Chronic|Renal Diseases, Chronic|Renal Insufficiencies, Chronic
D014522||Urethral Diseases|Diseases, Urethral|Disease, Urethral|Urethral Disease
C538659|176200||Porphyria, South African type|PORPHYRIA, SOUTH AFRICAN TYPE|PORPHYRIA VARIEGATA|PPOX DEFICIENCY VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT|PROTOPORPHYRINOGEN OXIDASE DEFICIENCY|VARIEGATE PORPHYRIA|VP
C537747||Omphalocele cleft palate syndrome lethal|Cleft palate-omphalocele syndrome, lethal|Lethal omphalocele-cleft palate syndrome|Omphalocele-Cleft Palate Syndrome, Lethal
C536417||Primary malignant melanoma of the cervix|Primary malignant melanoma of the cervix uteri|Primary malignant melanoma of the uterine cervix|Radiation induced malignant melanoma of the cervix
C537748||Omphalocele exstrophy imperforate anus|OEIS complex|Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects|Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects
D001228||Aspergillosis|Aspergilloses
C566121|119530||Orofacial Cleft 1|Cleft Lip/Palate, Nonsyndromic|Cleft Lip with or without Cleft Palate, Nonsyndromic, 1|OFC|OFC1|Orofacial Cleft, Nonsyndromic
C563557|158901||Facioscapulohumeral Muscular Dystrophy 1B|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC|FSHD1B|FSHD2|FSHD2, DIGENIC|FSHMD1B|Muscular Dystrophy, Facioscapulohumeral, Type 1B|MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2
C537760||Renoprival hypertension
C567791|613068||Neurodegeneration Due To Cerebral Folate Transport Deficiency
C536432||Cochleosaccular degeneration of the inner ear and progressive cataracts|Cochleosaccular Degeneration|Cochleosaccular Degeneration of the Inner Ear with Progressive Cataracts
C537763||Chromosome 6 ring syndrome|Ring 6, Chromosome|Ring chromosome 6 syndrome
C537764||Chromosome 6, deletion 6q13 q15|Deletion 6q13 q15|Monosomy 6q13 q15
D002558||Cerebrospinal Fluid Otorrhea|Cerebrospinal Fluid Otorrhea, Post Traumatic|Cerebrospinal Fluid Otorrhea, Post-Traumatic|Cerebrospinal Fluid Otorrheas|Cerebrospinal Fluid Otorrhea, Spontaneous|Cerebrospinal Fluid Otorrhea, Traumatic|Cerebrospinal Otorrhea|Otorrhea, Cerebrospinal|Otorrhea, Cerebrospinal Fluid|Otorrhea, Cerebrospinal Fluid, Post-Traumatic|Otorrhea, Cerebrospinal Fluid, Spontaneous|Otorrhea, Cerebrospinal Fluid, Traumatic|Otorrhea, Post-Traumatic, Cerebrospinal Fluid|Otorrhea, Spontaneous, Cerebrospinal Fluid|Otorrhea, Traumatic Cerebrospinal Fluid|Post Traumatic Cerebrospinal Fluid Otorrhea|Post-Traumatic Cerebrospinal Fluid Otorrhea|Post Traumatic Otorrhea, Cerebrospinal Fluid|Post-Traumatic Otorrhea, Cerebrospinal Fluid|Spontaneous Cerebrospinal Fluid Otorrhea|Spontaneous Otorrhea, Cerebrospinal Fluid|Traumatic Cerebrospinal Fluid Otorrhea|Traumatic Otorrhea, Cerebrospinal Fluid
D001229||Aspergillosis, Allergic Bronchopulmonary|Allergic Aspergilloses, Bronchopulmonary|Allergic Aspergillosis, Bronchopulmonary|Allergic Bronchopulmonary Aspergilloses|Allergic Bronchopulmonary Aspergillosis|Aspergilloses, Allergic Bronchopulmonary|Aspergilloses, Bronchopulmonary Allergic|Aspergillosis, Bronchopulmonary Allergic|Bronchopulmonary Allergic Aspergilloses|Bronchopulmonary Allergic Aspergillosis|Bronchopulmonary Aspergilloses, Allergic|Bronchopulmonary Aspergillosis, Allergic
D002559||Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Post Traumatic|Cerebrospinal Fluid Rhinorrhea, Post-Traumatic|Cerebrospinal Fluid Rhinorrheas|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Cerebrospinal Fluid Rhinorrhea, Traumatic|Cerebrospinal Rhinorrhea|Cerebrospinal Rhinorrheas|Post Traumatic Cerebrospinal Fluid Rhinorrhea|Post-Traumatic Cerebrospinal Fluid Rhinorrhea|Post Traumatic Rhinorrhea, Cerebrospinal Fluid|Post-Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal|Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal Fluid, Post-Traumatic|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Rhinorrhea, Post-Traumatic, Cerebrospinal Fluid|Rhinorrheas, Cerebrospinal|Rhinorrheas, Cerebrospinal Fluid|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|Spontaneous Cerebrospinal Fluid Rhinorrhea|Spontaneous Rhinorrhea, Cerebrospinal Fluid|Traumatic Cerebrospinal Fluid Rhinorrhea|Traumatic Rhinorrhea, Cerebrospinal Fluid
C537762||Chromosome 5, uniparental disomy|Mosaic trisomy of chromosome 5|Uniparental disomy of 5
C562723||Hyperheparinemia
C562724||Dysprothrombinemia
D003884||Dermoid Cyst|Cyst, Dermoid|Cysts, Dermoid|Dermoid|Dermoid Cysts|Dermoids
D004374|607411||Ductus Arteriosus, Patent|Patency of the Ductus Arteriosus|Patent Ductus Arteriosus|Patent Ductus Arteriosus Familial|PDA|PDA1
C562721||Lazy Leukocyte Syndrome
C562727||Dysfibrinogenemia, Congenital
258660||NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO|NAION, SUSCEPTIBILITY TO|OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO
160150||MYOPATHY, CENTRONUCLEAR, 1|CNM1|MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT|MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT
D003881||Dermatomycoses|Dermatomycosis|Fungal Skin Disease|Fungal Skin Diseases|Skin Disease, Fungal|Skin Diseases, Fungal
225060|C536726||Zlotogora-Ogur syndrome|Autosomal recessive ectodermal dysplasia|Bustos Simosa Pinto Cisternas syndrome|Cleft lip/palate-ectodermal dysplasia syndrome|CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7, INCLUDED|CLPED1|Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7, INCLUDED|Ectodermal dysplasia Margarita island type|Ectodermal Dysplasia, Margarita Island Type|Ectodermal dysplasia type 4|Ectodermal Dysplasia, Type 4|ED4|OFC7, INCLUDED|ZLOTOGORA-OGUR SYNDROME
D002551||Cerebral Ventricle Neoplasms|Brain Ventricular Neoplasm|Brain Ventricular Neoplasms|Brain Ventricular Tumor|Brain Ventricular Tumors|Cerebral Ventricle Neoplasm|Cerebral Ventricle Tumor|Cerebral Ventricle Tumors|Cerebroventricular Neoplasm|Cerebroventricular Neoplasms|Intraventricular Neoplasm|Intraventricular Neoplasms|Neoplasm, Brain Ventricular|Neoplasm, Cerebral Ventricle|Neoplasm, Cerebroventricular|Neoplasm, Intraventricular|Neoplasms, Brain Ventricular|Neoplasms, Cerebral Ventricle|Neoplasms, Cerebroventricular|Neoplasms, Intraventricular|Neoplasms, Ventricular, Brain|Tumor, Brain Ventricular|Tumor, Cerebral Ventricle|Tumors, Brain Ventricular|Tumors, Cerebral Ventricle|Ventricle Tumor, Cerebral|Ventricle Tumors, Cerebral|Ventricular Neoplasm, Brain|Ventricular Neoplasms, Brain|Ventricular Tumor, Brain|Ventricular Tumors, Brain
D003882||Dermatomyositis|Adult Type Dermatomyositides|Adult Type Dermatomyositis|Childhood Type Dermatomyositides|Childhood Type Dermatomyositis|Dermatomyositides|Dermatomyositides, Adult Type|Dermatomyositides, Childhood Type|Dermatomyositis, Adult Type|Dermatomyositis, Childhood Type|Dermatopolymyositides|Dermatopolymyositis|Polymyositis-Dermatomyositides|Polymyositis Dermatomyositis|Polymyositis-Dermatomyositis
D013206||Staphylococcal Scalded Skin Syndrome|Disease, Ritter|Disease, Ritter&apos;s|Ritter Disease|Ritter&apos;s Disease|Ritters Disease|Scalded-Skin Syndromes, Staphylococcal|Scalded Skin Syndrome, Staphylococcal|Scalded-Skin Syndrome, Staphylococcal|Staphylococcal Scalded-Skin Syndrome|Staphylococcal Scalded-Skin Syndromes|Syndromes, Staphylococcal Scalded-Skin|Syndrome, Staphylococcal Scalded-Skin
D013207||Staphylococcal Skin Infections|Diseases, Staphylococcal Skin|Disease, Staphylococcal Skin|Infections, Staphylococcal Skin|Infection, Staphylococcal Skin|Skin Diseases, Staphylococcal|Skin Disease, Staphylococcal|Skin Infections, Staphylococcal|Skin Infection, Staphylococcal|Skin Staphylococcal Disease|Skin Staphylococcal Diseases|Skin Staphylococcal Infection|Skin Staphylococcal Infections|Staphylococcal Disease, Skin|Staphylococcal Diseases, Skin|Staphylococcal Infection, Skin|Staphylococcal Infections, Skin|Staphylococcal Skin Disease|Staphylococcal Skin Diseases|Staphylococcal Skin Infection
D015868||Pars Planitis|Planitis, Pars
243500|C538167||Acidemia, isovaleric|Isovaleric acid CoA dehydrogenase deficiency|Isovaleric Acid-CoA Dehydrogenase Deficiency|Isovaleric acidemia|Isovaleryl CoA carboxylase deficiency|Isovaleryl-CoA Dehydrogenase Deficiency|IVA|IVD DEFICIENCY
C562729||Esophageal Squamous Cell Carcinoma
D015867||Uveitis, Intermediate|Chronic Cyclitis|Cyclitis, Chronic|Intermediate Uveitis
D064749||Retrocaval Ureter|Circumcaval Ureter|Ureter, Circumcaval|Ureter, Retrocaval
D015866||Uveitis, Posterior|Posterior Uveitis
C564566|300210||Mental Retardation, X-Linked 58|MRX58
D015861||Retinal Neovascularization|Neovascularization, Retinal
611010|C567028||Fibromatosis, Gingival, 4|Fibromatosis, Gingival, Hereditary, 4|GGF4|GINGF4|HGF4
C536423||Progeroid syndrome, neonatal|Neonatal progeroid syndrome|Wiedemann-Rautenstrauch syndrome
C537754||Renal dysplasia - limb defects syndrome|Renal Dysplasia-Limb Defects Syndrome|Renal dysplasia, mesomelia, and radiohumeral fusion|Ulbright Hodes syndrome
C537755||Renal dysplasia diffuse cystic|Diffuse cystic renal dysplasia|Renal Dysplasia, Diffuse Cystic
D013202||Staphylococcal Food Poisoning|Food Poisonings, Staphylococcal|Food Poisoning, Staphylococcal|Poisonings, Staphylococcal Food|Poisoning, Staphylococcal Food|Staphylococcal Food Poisonings
C536429||Cloverleaf skull micromelia thoracic dysplasia|Micromelic bone dysplasia with cloverleaf skull
C563776|609197||Glucocorticoid Deficiency 3|Familial Glucocorticoid Deficiency 3|FGD3|GCCD2, FORMERLY|GCCD3|GLUCOCORTICOID DEFICIENCY 2, FORMERLY
D013203||Staphylococcal Infections|Infections, Staphylococcal|Infection, Staphylococcal|Staphylococcal Infection
D015864||Panuveitis
C567765|613086||Glaucoma 3, Primary Congenital, D|Glc3d
C536427||Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss|Unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss
D015863||Iridocyclitis|Cyclitides, Heterochromic|Cyclitis, Heterochromic|Heterochromic Cyclitides|Heterochromic Cyclitis|Iridocyclitides
D052776||Female Urogenital Diseases|Female Genitourinary Disease|Female Genitourinary Diseases|Female Urogenital Disease|Genitourinary Disease, Female|Genitourinary Diseases, Female|Urogenital Disease, Female|Urogenital Diseases, Female
C536428||Cleidorhizomelic syndrome|Cleido rhizomelic syndrome|Rhizomelic shortness with clavicular defect|Wallis Zieff Goldblatt syndrome
149730|C538132||Lacrimoauriculodentodigital syndrome|LADD|Levy Hollister syndrome|Levy-Hollister Syndrome
C537759||Renal tubular acidosis, distal, type 3|Bicarbonate-wasting RTA|Renal Tubular Acidosis III|RTA, bicarbonate-wasting type|RTA, dislocation type
D015862||Choroid Diseases|Choroidal Disease|Choroidal Diseases|Choroid Disease|Disease, Choroid|Disease, Choroidal|Diseases, Choroid|Diseases, Choroidal
D002527||Myoclonic Cerebellar Dyssynergia|Ataxia, Dentate Cerebellar|Ataxias, Dentate Cerebellar|Atrophies, Dentate Cerebellar|Atrophy, Dentate Cerebellar|Cerebellar Ataxias, Dentate|Cerebellar Atrophy, Dentate|Cerebellar Dyssynergia|Cerebellar Dyssynergia, Myoclonic|Cerebellar Dyssynergias|Cerebellar Dyssynergias, Myoclonic|Cerebelloparenchymal Disorder V|Dentate Cerebellar Ataxia|Dentate Cerebellar Ataxias|Dentate Cerebellar Atrophies|Dentate Cerebellar Atrophy|Dentate Nucleus Syndrome, Ramsay Hunt|Dyssynergia, Cerebellar|Dyssynergia Cerebellaris Myoclonica|Dyssynergia Cerebellaris Myoclonica Of Hunt|Dyssynergia Cerebellaris Progressiva|Dyssynergia, Myoclonic Cerebellar|Dyssynergias, Cerebellar|Dyssynergias, Myoclonic Cerebellar|Myoclonic Cerebellar Dyssynergias|Ramsay Hunt Cerebellar Syndrome|Ramsay Hunt Dentate Syndrome|Spinodentate Atrophy
C537770||Anorchia|Absence of testes|Anorchia, Familial|Congenital absence of testes|Empty scrotum|Testicular Regression, Embryonic|Testicular regression syndrome|Vanishing testes|Xy Gonadal Agenesis Syndrome|XY gonadal dysgenesis syndrome
D002528||Cerebellar Neoplasms|Benign Cerebellar Neoplasm|Benign Cerebellar Neoplasms|Cancer, Cerebellar|Cerebellar Cancer|Cerebellar Cancers|Cerebellar Neoplasm|Cerebellar Neoplasm, Benign|Cerebellar Neoplasm, Malignant|Cerebellar Neoplasm, Primary|Cerebellar Neoplasms, Benign|Cerebellar Neoplasms, Malignant|Cerebellar Neoplasms, Primary|Cerebellar Tumor|Cerebellar Tumors|Cerebellum Primary Neoplasm|Cerebellum Primary Neoplasms|Malignant Cerebellar Neoplasm|Malignant Cerebellar Neoplasms|Neoplasm, Benign Cerebellar|Neoplasm, Cerebellar|Neoplasm, Cerebellum Primary|Neoplasm, Malignant Cerebellar|Neoplasms, Cerebellar|Neoplasms, Cerebellar, Benign|Neoplasms, Cerebellar, Malignant|Neoplasms, Cerebellar, Primary|Primary Cerebellar Neoplasm|Primary Cerebellar Neoplasms|Primary Neoplasm, Cerebellum|Primary Neoplasms, Cerebellum|Tumor, Cerebellar
C536440||Corneal hypesthesia, familial|Trigeminal anesthesia, familial
D003859||Dependent Personality Disorder|Dependent Personality Disorders|Disorder, Dependent Personality|Passive Dependent Personality|Passive-Dependent Personality|Personality Disorder, Dependent|Personality, Passive-Dependent
C537771||Anorectal atresia|Anorectal malformation|Anorectal stenosis
C566419|602966||Orofacial Cleft 2|Cleft Lip with or without Cleft Palate, Nonsyndromic, 2|OFC2
189800|D011225||Pre-Eclampsia|Edema Proteinuria Hypertension Gestosis|Edema-Proteinuria-Hypertension Gestosis|EPH Complex|EPH Gestosis|EPH Toxemia|EPH Toxemias|Gestosis, Edema-Proteinuria-Hypertension|Gestosis, EPH|Gestosis, Hypertension-Edema-Proteinuria|Gestosis, Proteinuria-Edema-Hypertension|HELLP, INCLUDED|HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT, INCLUDED|Hypertension Edema Proteinuria Gestosis|Hypertension-Edema-Proteinuria Gestosis|PEE|PEE1|PEE2|PEE3|PEE4|Preeclampsia|Pre Eclampsia|Preeclampsia/Eclampsia 1|PREECLAMPSIA/ECLAMPSIA 2|PREECLAMPSIA/ECLAMPSIA 3|PREECLAMPSIA/ECLAMPSIA 4|PREG1|Pregnancy Toxemia|Pregnancy Toxemias|Proteinuria Edema Hypertension Gestosis|Proteinuria-Edema-Hypertension Gestosis|Toxemia, EPH|Toxemia Of Pregnancy|TOXEMIA OF PREGNANCY HYPERTENSION, PREGNANCY-INDUCED, INCLUDED|Toxemia, Pregnancy|Toxemias, EPH|Toxemias, Pregnancy
C566299||Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
C566495|609965||Deafness, Autosomal Dominant 53|DFNA53
D002524||Cerebellar Ataxia|Adiadochokineses|Adiadochokinesis|Ataxia, Cerebellar|Ataxias, Cerebellar|Cerebellar Ataxias|Cerebellar Dysmetria|Cerebellar Dysmetrias|Cerebellar Hemiataxia|Cerebellar Hemiataxias|Cerebellar Incoordination|Cerebellar Incoordinations|Dysmetria|Dysmetria, Cerebellar|Dysmetrias|Dysmetrias, Cerebellar|Hemiataxia, Cerebellar|Hemiataxias, Cerebellar|Hypermetria|Hypermetrias|Incoordination, Cerebellar|Incoordinations, Cerebellar
C536444||Corneodermatoosseous syndrome|CDO syndrome|Corneal dystrophy epithelial and short stature|Corneal dystrophy, epithelial, with skin and skeletal changes
C537772||Anotia|Microtia
D002526||Cerebellar Diseases|Cerebellar Disease|Cerebellar Disorder|Cerebellar Disorders|Cerebellar Dysfunction|Cerebellar Dysfunctions|Cerebellar Syndrome|Cerebellar Syndromes|Cerebellum Disease|Cerebellum Diseases|Disease, Cerebellar|Disease, Cerebellum|Disorder, Cerebellar|Dysfunction, Cerebellar|Syndrome, Cerebellar
C537773||Ansell Bywaters Elderking syndrome
257850|C567605||Oculodentodigital Dysplasia, Autosomal Recessive|Oculodentoosseous Dysplasia, Autosomal Recessive|ODDD, AUTOSOMAL RECESSIVE|ODOD, AUTOSOMAL RECESSIVE
605355|C538397||Nemaline myopathy 5|Amish Nemaline Myopathy|ANM|NEM5|Nemaline Myopathy, Amish Type|Nemaline myopathy, caused by mutation in the troponin t1 gene
C549759||Phyllodes Tumor of the Prostate|Malignant Phyllodes Tumor of Prostate
D015835||Ocular Motility Disorders|Brown&apos;s Tendon Sheath Syndrome|Brown Tendon Sheath Syndrome|Conjugate Gaze Spasm|Conjugate Gaze Spasms|Convergence Excess|Convergence Excesses|Convergence Insufficiencies|Convergence Insufficiency|Cyclophoria|Cyclophorias|Deficiencies, Smooth Pursuit|Deficiency, Smooth Pursuit|Deviation, Skew|Deviations, Skew|Dyskinesia, Paroxysmal Ocular|Dyskinesias, Paroxysmal Ocular|Excess, Convergence|Eye Motility Disorder|Eye Motility Disorders|Eye Movement Disorder|Eye Movement Disorders|Gaze Spasms, Conjugate|Insufficiencies, Convergence|Insufficiency, Convergence|Internuclear Ophthalmoplegia|Internuclear Ophthalmoplegias|Ocular Dyskinesia, Paroxysmal|Ocular Dyskinesias, Paroxysmal|Ocular Motility Disorder|Ocular Torticollis|Ophthalmoplegia, Internuclear|Ophthalmoplegias, Internuclear|Opsoclonus|Parinaud&apos;s Syndrome|Parinauds Syndrome|Parinaud Syndrome|Paroxysmal Ocular Dyskinesia|Paroxysmal Ocular Dyskinesias|Pseudoophthalmoplegia|Pseudoophthalmoplegias|Pursuit Deficiencies, Smooth|Pursuit Deficiency, Smooth|Skew Deviation|Skew Deviations|Smooth Pursuit Deficiencies|Smooth Pursuit Deficiency|Spasm of Conjugate Gaze|Syndrome, Brown&apos;s Tendon Sheath|Syndrome, Parinaud|Syndrome, Parinaud&apos;s|Tendon Sheath Syndrome of Brown
D015834||Cochlear Diseases|Cochlear Disease|Disease, Cochlear|Diseases, Cochlear
607341|C537067||Focal cortical dysplasia of Taylor|CDT|CDTBC, INCLUDED|CDTD, INCLUDED|Cortical dysplasia of Taylor|CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY, INCLUDED|Cortical Dysplasia of Taylor with Balloon Cells|CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS, INCLUDED|CORTICAL DYSPLASIA OF TAYLOR WITHOUT BALLOON CELLS, INCLUDED|FCDT|Focal Cortical Dysplasia of Taylor, Type IIa|Focal Cortical Dysplasia of Taylor, Type IIb|FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB, INCLUDED|Focal cortical dysplasia, type 2|Focal Cortical Dysplasia, Type II|FOCAL CORTICAL DYSPLASIA, TYPE II FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIA, INCLUDED
D015838||Chondromatosis, Synovial|Chondromatoses, Synovial|Chondrometaplasias, Synovial|Chondrometaplasia, Synovial|Henderson Jones Syndrome|Henderson-Jones Syndrome|Osteochondromatoses, Synovial|Osteochondromatosis, Synovial|Reichel&apos;s Syndrome|Reichels Syndrome|Reichel Syndrome|Syndrome, Henderson-Jones|Syndrome, Reichel&apos;s|Synovial Chondromatoses|Synovial Chondromatosis|Synovial Chondrometaplasia|Synovial Chondrometaplasias|Synovial Osteochondromatoses|Synovial Osteochondromatosis
D007898|608207||Leishmaniasis, Visceral|Black Fever|Fever, Black|Kala Azar|Kala-Azar|KALA-AZAR, SUSCEPTIBILITY TO, 1|KAZA1|LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 1|Visceral Leishmaniasis
D015837||Vestibular Diseases|Diseases, Vestibular|Disease, Vestibular|Vestibular Disease
C536436||Coffin-Siris syndrome|Fifth digit syndrome
C537767||Anophthalmia plus syndrome|Anophthalmia-Plus Syndrome|Fryns anophthalmia syndrome|Fryns Microphthalmia Syndrome|Microphthalmia with Facial Clefting
C536434||CODAS syndrome|Cerebral, ocular, dental, auricular, and skeletal syndrome|Cerebral, Ocular, Dental, Auricular, Skeletal Anomalies Syndrome
C537765||Chromosome 6, monosomy 6p23|Deletion 6p23|Monosomy 6p23
C536435||Coffin syndrome 1|Dwarfism, lean spastic type|Lean spastic dwarfism
C537766||Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges|Anonychia and absence/hypoplasia of distal phalanges|Cooks syndrome
D015831||Osteochondroma|Cartilaginous Exostoses|Cartilaginous Exostosis|Chondrosteoma|Chondrosteomas|Exostoses, Cartilaginous|Exostoses, Osteocartilaginous|Exostosis, Cartilaginous|Exostosis, Osteocartilaginous|Osteocartilaginous Exostoses|Osteocartilaginous Exostosis|Osteochondromas
C537769||Anophthalmos with limb anomalies|Anophthalmia-Syndactyly|Anophthalmia Waardenburg syndrome|Anophthalmos-syndactyly|Microphthalmia With Limb Anomalies|Ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome
D001206||Ascorbic Acid Deficiency|Ascorbic Acid Deficiencies|Deficiencies, Ascorbic Acid|Deficiencies, Vitamin C|Deficiency, Ascorbic Acid|Deficiency, Vitamin C|Vitamin C Deficiencies|Vitamin C Deficiency
D002539||Cerebral Arterial Diseases|Arterial Disease, Cerebral|Arterial Diseases, Cerebral|Artery Disease, Cerebral|Artery Diseases, Cerebral|Cerebral Arterial Disease|Cerebral Artery Disease|Cerebral Artery Diseases|Disease, Cerebral Arterial|Disease, Cerebral Artery|Diseases, Cerebral Arterial|Diseases, Cerebral Artery
612372|C567531||Major Affective Disorder 9|BIPOLAR AFFECTIVE DISORDER|MAFD9
C537782||Aorta-pulmonary artery fistula|Aorto-pulmonary artery fistula|Aortopulmonary fistula
300643|C564467||Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked|RESDX
D002534||Hypoxia, Brain|Anoxia, Brain|Anoxia, Cerebral|Anoxic Brain Damage|Anoxic Encephalopathies|Anoxic Encephalopathy|Brain Anoxia|Brain Damage, Anoxic|Brain Damage, Hypoxic|Brain Hypoxia|Cerebral Anoxia|Cerebral Hypoxia|Damage, Anoxic Brain|Damage, Hypoxic Brain|Encephalopathies, Anoxic|Encephalopathies, Hypoxic|Encephalopathy, Anoxic|Encephalopathy, Hypoxic|Hypoxia, Cerebral|Hypoxic Brain Damage|Hypoxic Encephalopathies|Hypoxic Encephalopathy
C537785||Aortic arch anomaly with peculiar facies and mental retardation
C536455||Craniofacial dyssynostosis|Craniofacial dyssynostosis and short stature|Craniofacial Dyssynostosis with Short Stature|Craniosynostosis-craniofacial dysostosis syndrome
D003866||Depressive Disorder|Depression, Endogenous|Depression, Neurotic|Depressions, Endogenous|Depressions, Neurotic|Depressions, Unipolar|Depression, Unipolar|Depressive Disorders|Depressive Neuroses|Depressive Neurosis|Depressive Syndrome|Depressive Syndromes|Disorder, Depressive|Disorders, Depressive|Endogenous Depression|Endogenous Depressions|Melancholia|Melancholias|Neuroses, Depressive|Neurosis, Depressive|Neurotic Depression|Neurotic Depressions|Syndrome, Depressive|Syndromes, Depressive|Unipolar Depression|Unipolar Depressions
C536452||Crane-Heise syndrome|Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus
C537783||Aortic aneurysm, familial thoracic 3|Loeys-Dietz Syndrome, Type 2b
D002537||Intracranial Arteriosclerosis|Arterioscleroses, Cerebral|Arterioscleroses, Intracranial|Arteriosclerosis, Cerebral|Arteriosclerosis, Intracranial|Atheroscleroses, Cerebral|Atheroscleroses, Intracranial|Atherosclerosis, Cerebral|Atherosclerosis, Intracranial|Cerebral Arterioscleroses|Cerebral Arteriosclerosis|Cerebral Atheroscleroses|Cerebral Atherosclerosis|Intracranial Arterioscleroses|Intracranial Atheroscleroses|Intracranial Atherosclerosis
C562701||Fleck Retina of Kandori
D002532||Intracranial Aneurysm|Aneurysm, Anterior Cerebral Artery|Aneurysm, Anterior Communicating Artery|Aneurysm, Basilar Artery|Aneurysm, Berry|Aneurysm, Brain|Aneurysm, Cerebral|Aneurysm, Giant Intracranial|Aneurysm, Intracranial|Aneurysm, Intracranial Mycotic|Aneurysm, Middle Cerebral Artery|Aneurysm, Posterior Cerebral Artery|Aneurysm, Posterior Communicating Artery|Aneurysms, Basilar Artery|Aneurysms, Berry|Aneurysms, Brain|Aneurysms, Cerebral|Aneurysms, Giant Intracranial|Aneurysms, Intracranial|Aneurysms, Intracranial Mycotic|Anterior Cerebral Artery Aneurysm|Anterior Communicating Artery Aneurysm|Artery Aneurysm, Basilar|Artery Aneurysms, Basilar|Basilar Artery Aneurysm|Basilar Artery Aneurysms|Berry Aneurysm|Berry Aneurysms|Brain Aneurysm|Brain Aneurysms|Cerebral Aneurysm|Cerebral Aneurysms|Giant Intracranial Aneurysm|Giant Intracranial Aneurysms|Intracranial Aneurysm, Giant|Intracranial Aneurysms|Intracranial Aneurysms, Giant|Intracranial Mycotic Aneurysm|Intracranial Mycotic Aneurysms|Middle Cerebral Artery Aneurysm|Mycotic Aneurysm, Intracranial|Mycotic Aneurysms, Intracranial|Posterior Cerebral Artery Aneurysm|Posterior Communicating Artery Aneurysm
C562700||Pupillary Membrane, Persistence Of
C562705||Pituitary Dwarfism with Large Sella Turcica
C536486|276904||Usher syndrome, type 1C|USH1C|Usher syndrome, Acadian variety|USHER SYNDROME, TYPE I, ACADIAN VARIETY|USHER SYNDROME, TYPE IC
D001201||Ascites
D055673|200990||Acrocallosal Syndrome|ACLS|Acrocallosal Syndromes|Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum|JBTS12, INCLUDED|JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED|SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12, INCLUDED|Syndrome, Acrocallosal|Syndromes, Acrocallosal
C562709||Insulin Receptor, Defect in
D014516||Ureteral Neoplasms|Cancer of the Ureter|Cancer of Ureter|Cancers, Ureteral|Cancer, Ureteral|Neoplasms of Ureter|Neoplasms, Ureteral|Neoplasm, Ureteral|Ureteral Cancer|Ureteral Cancers|Ureteral Neoplasm|Ureter Cancer|Ureter, Cancer Of|Ureter Cancers|Ureter Neoplasm|Ureter Neoplasms
D062108||May-Thurner Syndrome|Cockett Syndrome|Compression Syndrome, Iliocaval|Compression Syndromes, Iliocaval|Iliac Vein Compression Syndrome|Iliocaval Compression Syndrome|Iliocaval Compression Syndromes|May Thurner Syndrome|Syndrome, Cockett|Syndrome, Iliocaval Compression|Syndrome, May-Thurner|Syndromes, Iliocaval Compression
D014515||Ureteral Diseases|Diseases, Ureteral|Disease, Ureteral|Ureteral Disease
D015845||Tonic Pupil|Adie Pupil|Adie&apos;s Pupil|Adies Pupil|Myotonic Pupil|Myotonic Pupils|Neuropathic Tonic Pupil|Neuropathic Tonic Pupils|Pupil, Adie|Pupil, Adie&apos;s|Pupil, Local Tonic|Pupillotonia|Pupillotonias|Pupil, Myotonic|Pupil, Neuropathic Tonic|Pupils, Adie&apos;s|Pupils, Local Tonic|Pupils, Myotonic|Pupils, Neuropathic Tonic|Pupils, Tonic|Pupil, Tonic|Tonic Pupil, Local|Tonic Pupil, Neuropathic|Tonic Pupils|Tonic Pupils, Local|Tonic Pupils, Neuropathic
D014514||Ureteral Calculi|Calculi, Ureteral|Calculus, Ureteral|Ureteral Calculus
C562708||Prolactin Deficiency, Isolated
D007625|530000||Kearns-Sayre Syndrome|Chronic Progressive External Ophthalmoplegia with Myopathy|CPEO with Myopathies|CPEO with Myopathy|Cpeo With Ragged-Red Fibers|CPEO with Ragged Red Fibers|Cytopathy, Kearn-Sayre Mitochondrial|Kearn Sayre Mitochondrial Cytopathy|Kearn-Sayre Mitochondrial Cytopathy|Kearns-Sayre Mitochondrial Cytopathy|Kearns Sayre Shy Daroff Syndrome|Kearns-Sayre-Shy-Daroff Syndrome|Kearns Sayre Syndrome|Kearns Syndrome|Kearns&apos; Syndrome|Kearn Syndrome|KSS|MITOCHONDRIAL CYTOPATHY|Mitochondrial Cytopathy, Kearn-Sayre|Myopathies, CPEO with|Myopathy, CPEO with|Oculocraniosomatic Syndrome|Oculocraniosomatic Syndromes|Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy|Ophthalmoplegia Plus Syndrome|Ophthalmoplegia-Plus Syndrome|Ophthalmoplegia Plus Syndromes|Ophthalmoplegia, Progressive External, With Ragged-Red Fibers|Sayre Syndrome, Kearns|Syndrome, Kearns|Syndrome, Kearns&apos;|Syndrome, Kearns Sayre|Syndrome, Kearns-Sayre|Syndrome, Kearns-Sayre-Shy-Daroff|Syndrome, Oculocraniosomatic|Syndrome, Ophthalmoplegia Plus
C566882|265120||Surfactant Metabolism Dysfunction, Pulmonary, 1|Interstitial Lung Disease Due To Surfactant Protein B Deficiency|Interstitial Lung Disease, Nonspecific, Due To Surfactant Protein B Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 1|SMDP1
C548420||Vascular Compression of the Duodenum
D014518||Ureterocele|Ureteroceles
D014517||Ureteral Obstruction|Obstructions, Ureteral|Obstruction, Ureteral|Ureteral Obstructions
C537778||Antisynthetase syndrome
C536448||Costocoracoid ligament congenitally short|Congenital shortness of the costocoracoid ligament|Costocoracoid Ligament, Congenitally Short
C537779||Antithrombin deficiency type 2
C536445||Coronal synostosis, syndactyly and jejunal atresia
C537776||Anterior spinal artery stroke
D014511||Uremia|Uremias
C536449||Cote Katsantoni syndrome
D015841||Enophthalmos
D052798||Balanitis Xerotica Obliterans|Kraurosis Penis
D015840||Oculomotor Nerve Diseases|Cranial Nerve III Diseases|Nerve Disease, Oculomotor|Nerve Diseases, Oculomotor|Nerve Disorder, Oculomotor|Nerve Disorders, Oculomotor|Nerve Palsies, Oculomotor|Nerve Palsy, Oculomotor|Nerve Paralyses, Oculomotor|Nerve Paralysis, Oculomotor|Neuropathies, Oculomotor|Neuropathy, Oculomotor|Oculomotor Nerve Disease|Oculomotor Nerve Disorder|Oculomotor Nerve Disorders|Oculomotor Nerve Palsies|Oculomotor Nerve Palsy|Oculomotor Nerve Paralyses|Oculomotor Nerve Paralysis|Oculomotor Neuropathies|Oculomotor Neuropathy|Palsies, Oculomotor Nerve|Palsies, Partial Third-Nerve|Palsies, Third-Nerve|Palsies, Total Third-Nerve|Palsy, Oculomotor Nerve|Palsy, Partial Third-Nerve|Palsy, Third-Nerve|Palsy, Total Third-Nerve|Paralyses, Oculomotor Nerve|Paralyses, Third-Nerve|Paralysis, Oculomotor Nerve|Paralysis, Third-Nerve|Partial Third-Nerve Palsies|Partial Third Nerve Palsy|Partial Third-Nerve Palsy|Third Cranial Nerve Diseases|Third-Nerve Palsies|Third-Nerve Palsies, Partial|Third-Nerve Palsies, Total|Third Nerve Palsy|Third-Nerve Palsy|Third-Nerve Palsy, Partial|Third-Nerve Palsy, Total|Third-Nerve Paralyses|Third Nerve Paralysis|Third-Nerve Paralysis|Total Third-Nerve Palsies|Total Third Nerve Palsy|Total Third-Nerve Palsy
300630||MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE|MENTAL RETARDATION, X-LINKED 59|MENTAL RETARDATION, X-LINKED, SYNDROMIC 21|MRX59|MRXS21|MRXSF
C566277||Anonychia-Ectrodactyly
C566278||Anonychia with Flexural Pigmentation
C535749|608540||Congenital disorder of glycosylation type 1K|CDG1K|CDGIk|CDG Ik|Congenital Disorder Of Glycosylation, Type IK
D064793||Teratogenesis
C563326|601388||Diabetes Mellitus, Insulin-Dependent, 12|IDDM12|Insulin-Dependent Diabetes Mellitus 12
D063466||Respiratory Aspiration of Gastric Contents
C567473|300710||Alopecia, Androgenetic, 2|AGA2
D015819||Substance Abuse, Intravenous|Drug Abuse, Intravenous|Drug Abuse, Parenteral|Intravenous Drug Abuse|Intravenous Substance Abuse|Parenteral Drug Abuse
143400|C537373||Multicystic renal dysplasia, bilateral|Hydronephrosis Due To Pujo|MCRD|MRD|Pelvi-ureteric junction obstruction|Pelviureteric Junction Obstruction|PUJO
609049|C537185||Pierson syndrome|Microcoria and congenital nephrotic syndrome|Microcoria-Congenital Nephrotic Syndrome|Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome
C563476|167320||Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia|IBMPFD|IBMPFD1|Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and-or Frontotemporal Dementia|INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1|Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia|Lower Motor Neuron Degeneration With Paget-Like Bone Disease|MSP1|MULTISYSTEM PROTEINOPATHY 1|Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone|Pagetoid Amyotrophic Lateral Sclerosis|Pagetoid Neuroskeletal Syndrome
D015814||Ocular Hypotension|Hypotension, Ocular|Hypotony, Ocular|Ocular Hypotony
C537707||Kallikrein hypertension|Kallikrein attenuated hypertension
D015812||Glaucoma, Angle-Closure|Angle Closure Glaucoma|Angle-Closure Glaucoma|Angle Closure Glaucomas|Angle-Closure Glaucomas|Closed-Angle Glaucoma|Closed-Angle Glaucomas|Glaucoma, Angle Closure|Glaucoma, Closed Angle|Glaucoma, Closed-Angle|Glaucoma, Narrow Angle|Glaucoma, Narrow-Angle|Glaucomas, Angle Closure|Glaucomas, Angle-Closure|Glaucomas, Closed-Angle|Glaucomas, Narrow-Angle|Glaucomas, Uncompensated|Glaucomas, Uncompensative|Glaucoma, Uncompensated|Glaucoma, Uncompensative|Narrow-Angle Glaucoma|Narrow-Angle Glaucomas|Uncompensated Glaucoma|Uncompensated Glaucomas|Uncompensative Glaucoma|Uncompensative Glaucomas
C537708||Kifafa seizure disorder|Complex familial seizure disorder|Vitsala
D015811||Iris Neoplasms|Iris Neoplasm|Neoplasm, Iris|Neoplasms, Iris
D015818||Eye Infections, Bacterial|Bacterial Eye Infection|Bacterial Eye Infections|Bacterial Ocular Infection|Bacterial Ocular Infections|Eye Infection, Bacterial|Infection, Bacterial Eye|Infection, Bacterial Ocular|Infections, Bacterial Eye|Infections, Bacterial Ocular|Ocular Infection, Bacterial|Ocular Infections, Bacterial
D015817||Eye Infections|Eye Infection|Infection, Eye|Infection, Ocular|Infections, Eye|Infections, Ocular|Ocular Infection|Ocular Infections
D007706|309400||Menkes Kinky Hair Syndrome|Congenital Hypocupremia|Congenital Hypocupremias|Copper Transport Disease|Diseases, Kinky Hair|Diseases, Menkes&apos;|Diseases, Steely Hair|Disease, Steely Hair|Hair Diseases, Kinky|Hair Diseases, Steely|Hypocupremia, Congenital|Hypocupremias, Congenital|Kinky Hair Disease|Kinky Hair Diseases|Kinky Hair Syndrome|Menkea Syndrome|Menkea Syndromes|Menkes Disease|Menkes&apos; Disease|Menkes&apos; Diseases|Menkes Syndrome|MK|MNK|Steely Hair Disease|Steely Hair Diseases|Steely Hair Syndrome|Steely Hair Syndromes|Syndrome, Menkea|Syndromes, Menkea|Syndromes, Steely Hair|Syndrome, Steely Hair|X-Linked Copper Deficiency
C537701||Hyperostosis corticalis deformans juvenilis|Chronic Congenital Idiopathic Hyperphosphatasemia|Familial Idiopathic Hyperphosphatasemia|Familial Osteoectasia|Hyperphosphatasemia, chronic congenital idiopathic|Hyperphosphatasemia with Bone Disease|Hyperphosphatasia, familial idiopathic|Idiopathic Hyperphosphatasia|Juvenile Paget Disease|Juvenile Paget&apos;s Disease|Osteochalasia Desmalis Familiaris|Osteoectasia, familial|Osteoectasia with Hyperphosphatasia
C566285||Erythroreticulosis, Hereditary Benign
C535755|266265||Congenital disorder of glycosylation, type 2C|CDG2C|CDGIIc|CDG IIc|Congenital Disorder Of Glycosylation, Type IIC|LAD2|Leukocyte adhesion deficiency, type 2|Leukocyte Adhesion Deficiency, Type II|Rambam Hasharon syndrome|Rambam-Hasharon Syndrome|RHS
D051474||Neuralgia, Postherpetic|Postherpetic Neuralgia
C537700||Juvenile osteoporosis|Childhood-Onset Primary Osteoporosis|Idiopathic juvenile osteoporosis|Juvenile Primary Osteoporosis|Osteoporosis, juvenile
C566287||Anal Sphincter Myopathy, Internal|Proctalgia Fugax due to Anal Sphincter Myopathy
C566280||Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
C566281||Aniridia and Absent Patella
C537703||Juvenile systemic scleroderma
C566282||Spinal Arterial Venous Malformations with Cutaneous Hemangiomas
C566283||Hemangiomatosis, Disseminated
C566288||Frontotemporal Dementia With Motor Neuron Disease|ALSFTD|Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis|FTDALS|FTDMND
C537720||Macrodactyly of the hand|Megalodactylism of the hand|Megalodactyly of the hand
C537718||Volcke Soekarman syndrome
D015823||Acanthamoeba Keratitis|Acanthamoeba Keratitides|Keratitides, Acanthamoeba|Keratitis, Acanthamoeba
C536842|133100||Polycythemia, primary familial and congenital|Benign Familial Polycythemia|Congenital Erythrocytosis|ECYT1|Erythrocytosis autosomal dominant benign|Erythrocytosis, Autosomal Dominant Benign|Erythrocytosis familial, 1|Erythrocytosis, Familial, 1|Familial Erythrocytosis|Familial erythrocytosis, 1|Familial Polycythemia|Hereditary Erythrocytosis|PFCP|POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL|Primary Familial Polycythemia
C537719||Macrodactyly of the foot|Megalodactylism of the foot|Megalodactyly of the foot
C566290||Amyotrophic Lateral Sclerosis, Autosomal Recessive
D015822||Eye Infections, Parasitic|Eye Infection, Parasitic|Infection, Parasitic Eye|Infection, Parasitic Ocular|Infections, Parasitic Eye|Infections, Parasitic Ocular|Ocular Infection, Parasitic|Ocular Infections, Parasitic|Parasitic Eye Infection|Parasitic Eye Infections|Parasitic Ocular Infection|Parasitic Ocular Infections
D015829||Uveitis, Suppurative|Suppurative Uveitides|Suppurative Uveitis|Uveitides, Suppurative
D015828||Eye Infections, Viral|Eye Infection, Viral|Infections, Viral Eye|Infections, Viral Ocular|Infection, Viral Eye|Infection, Viral Ocular|Ocular Infections, Viral|Ocular Infection, Viral|Viral Eye Infection|Viral Eye Infections|Viral Ocular Infection|Viral Ocular Infections
D015827||Onchocerciasis, Ocular|Blindness, River|Ocular Onchocerciases|Ocular Onchocerciasis|Onchocerciases, Ocular|River Blindness
C566295||Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
C537713||Lynch Lee Murday syndrome|Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation
425500|C564029||Hairy Ears, Y-Linked|Hypertrichosis Pinnae Auris, Y-Linked
C537711||Lymphedema, microcephaly and chorioretinopathy syndrome|Chorioretinal dysplasia-microcephaly-mental retardation syndrome|Lymphedema and Retinal Folds with Microcephaly and Microphthalmos|Lymphedema, Microcephaly, Chorioretinopathy Syndrome|Microcephaly lymphedema chorioretinal dysplasia|Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome
C566298||Alzheimer Disease, Familial, 1
C537716||Macrocephaly mesodermal hamartoma spectrum|Elattoproteus syndrome|Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Hemihypertrophy and macrocephaly|Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
C566291||Amyotrophic Lateral Sclerosis, Sporadic
D015821||Eye Infections, Fungal|Eye Infection, Fungal|Fungal Eye Infection|Fungal Eye Infections|Fungal Ocular Infection|Fungal Ocular Infections|Infection, Fungal Eye|Infection, Fungal Ocular|Infection, Ocular Mycotic|Infections, Fungal Eye|Infections, Fungal Ocular|Infections, Ocular Mycotic|Mycoses, Ocular|Mycosis, Ocular|Mycotic Infection, Ocular|Mycotic Infections, Ocular|Ocular Infection, Fungal|Ocular Infections, Fungal|Ocular Mycoses|Ocular Mycosis|Ocular Mycotic Infection|Ocular Mycotic Infections|Oculomycoses|Oculomycosis
C537717||Macrocephaly, benign familial|Benign familial macrocephaly|Benign familial megalencephaly|Cole-Hughes syndrome
C566292||Amyotrophic Dystonic Paraplegia
C537714||MacDermot Winter syndrome|MacDermot-Winter syndrome|Prominent glabella microcephaly hypogenitalism
605259|C537195||Spinocerebellar ataxia 13|Autosomal dominant cerebellar ataxia with mental retardation|Cerebellar ataxia, autosomal dominant with mental retardation|SCA13
C537715||Macleod Fraser syndrome
C566294||Amelia and Terminal Transverse Hemimelia
D017681|607685||Hypereosinophilic Syndrome|Endocarditis, Loeffler|Endocarditis, Loefflers|Endocarditis, Loeffler&apos;s|Eosinophilic Leukemia|Eosinophilic Leukemias|HES|Hypereosinophilic Syndrome, Idiopathic|Hypereosinophilic Syndromes|Hypereosinophilic Syndromes, Idiopathic|Idiopathic Hypereosinophilic Syndrome|Idiopathic Hypereosinophilic Syndromes|Leukemia, Eosinophilic|Leukemias, Eosinophilic|Loeffler Endocarditis|Loeffler&apos;s Endocarditis|Loefflers Endocarditis|Syndrome, Hypereosinophilic|Syndrome, Idiopathic Hypereosinophilic|Syndromes, Hypereosinophilic|Syndromes, Idiopathic Hypereosinophilic
C566255||Cardiomyopathy, Right Ventricular Dilated
C567586||Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related
C566256||Arrhenoblastoma--Thyroid Adenoma
D020391||Muscular Dystrophy, Facioscapulohumeral|Atrophies, Facioscapulohumeral|Atrophy, Facioscapulohumeral|Dystrophies, Facioscapulohumeral Muscular|Dystrophies, Landouzy-Dejerine|Dystrophy, Facioscapulohumeral Muscular|Dystrophy, Landouzy-Dejerine|Facioscapulohumeral Atrophies|Facioscapulohumeral Atrophy|Facio-Scapulo-Humeral Dystrophy|Facioscapulohumeral Muscular Dystrophies|Facioscapulohumeral Muscular Dystrophy|Facioscapulohumeral Type Progressive Muscular Dystrophy|Facioscapuloperoneal Muscular Dystrophy|FSH Muscular Dystrophy|Landouzy-Dejerine Dystrophies|Landouzy Dejerine Dystrophy|Landouzy-Dejerine Dystrophy|Muscular Dystrophies, Facioscapulohumeral|Muscular Dystrophy, Landouzy Dejerine|Progressive Muscular Dystrophy, Facioscapulohumeral Type
613790||COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I|C8AG DEFICIENCY|C8 ALPHA-GAMMA DEFICIENCY|C8D1|C8 DEFICIENCY, TYPE I
C566258||Arms, Malformation of
C536081|236800||Hydroxykynureninuria|Kynureninase deficiency|Xanthurenic aciduria
613792||CHROMOSOME 3pter-p25 DELETION SYNDROME|3p- SYNDROME
D063485||Acanthocheilonemiasis|Acanthocheilonemiases
C564174|143850||Orthostatic Hypotensive Disorder, Streeten Type|Hyperbradykininism|OHDS|Orthostatic Hypotensive Disorder
612459||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13|BMIQ13
D006099||Granuloma|Granulomas
613789||COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II|C8B DEFICIENCY|C8 BETA DEFICIENCY|C8D2|C8 DEFICIENCY, TYPE II|COMPLEMENT COMPONENT 8B DEFICIENCY
C536652|260800||Pentosuria|L-Xylulose reductase deficiency|L-Xylulosuria|PNTSU|Xylitol dehydrogenase deficiency
144750|C536748||Worth syndrome|Benign hyperostosis corticalis generalisata|Endosteal Hyperostosis, Autosomal Dominant|Endosteal hyperostosis Worth type|Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus|Hyperostosis corticalis generalisata congenita|Osteosclerosis, Autosomal Dominant|Osteosclerosis, autosomal dominant Worth type with torus palatinus
300843|C564092||Bornholm Eye Disease|BED|MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION
612460||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14|BMIQ14
C566262||Familial Hyperbeta- and Prebetalipoproteinemia
C565798|604302||Rheumatoid Arthritis, Systemic Juvenile|Systemic Juvenile Rheumatoid Arthritis
C567593||Primary Ovarian Insufficiency, Fragile X-Associated|Fragile X Premature Ovarian Failure
C580551||Y Chromosome Infertility|Y Chromosome-Related Azoospermia
C566263||Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
C567596||Mineralocorticoid Deficiency, Isolated
C537721||Macroepiphyseal dysplasia, McAlister Coe type|Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance|McAlister Coe Whyte syndrome
C566264||Broad-Betalipoproteinemia
C537722||Macrogyria, pseudobulbar palsy and mental retardation|Kuzniecky Andermann syndrome
C566265||Floating-Betalipoproteinemia
C567582|300804||Joubert Syndrome 10|JBTS10
C537725||Lung agenesis|Congenital lung agenesis|Pulmonary agenesis|Unilateral lobar pulmonary agenesis|Unilateral lung agenesis
C566260||Apolipoprotein E, Deficiency or Defect of
C567591||Emery-Dreifuss Muscular Dystrophy 6, X-Linked|Emery-Dreifuss Muscular Dystrophy 6
C537726||Lutz Richner Landolt syndrome|Biliary malformation with renal tubular insufficiency|Cholestatic jaundice and renal tubular insufficiency|Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies
C566261||Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
D020386||Isaacs Syndrome|Acquired Neuromyotonia|Continuous Muscle Activity Syndrome|Continuous Myokymia|Continuous Myokymias|Gamstorp Wohlfart Syndrome|Gamstorp-Wohlfart Syndrome|Gamstorp-Wohlfart Syndromes|Isaacs Mertens Syndrome|Isaacs-Mertens Syndrome|Isaacs Pseudomyotonia Syndrome|Isaacs&apos; Syndrome|Isaac Syndrome|Myokymia, Continuous|Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis|Myokymias, Continuous|Neuromyotonia|Neuromyotonia, Acquired|Pseudomyotonia|Pseudomyotonia Syndrome of Isaacs|Quantal Squander|Syndrome of Continuous Muscle Activity|Syndromes, Gamstorp-Wohlfart|Syndromes, Isaacs-Mertens
D018088||Tuberculosis, Multidrug-Resistant|Drug-Resistant Tuberculosis|MDR Tuberculosis|Multidrug-Resistant Tuberculosis|Multi-Drug Resistant Tuberculosis|Tuberculosis, Drug Resistant|Tuberculosis, Drug-Resistant|Tuberculosis, MDR|Tuberculosis, Multidrug Resistant|Tuberculosis, Multi Drug Resistant|Tuberculosis, Multi-Drug Resistant
D020385||Myokymia|Chorea, Fibrillary|Chorea, Morvan|Chorea, Morvan&apos;s|Chorea, Morvan&apos;s Fibrillary|Choreas, Fibrillary|Choreas, Morvan|Choreas, Morvan&apos;s|Fibrillary Chorea|Fibrillary Chorea, Morvan&apos;s|Fibrillary Choreas|Generalized Myokymia|Generalized Myokymias|Kymatism|Kymatisms|Morvan Chorea|Morvan Choreas|Morvan Fibrillary Chorea|Morvan&apos;s Chorea|Morvans Chorea|Morvan&apos;s Choreas|Morvan&apos;s Fibrillary Chorea|Morvans Fibrillary Chorea|Myokymia, Generalized|Myokymias|Myokymias, Generalized
C562509|119500||Popliteal Pterygium Syndrome|Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies|Faciogenitopopliteal Syndrome|Facio-Genito-Popliteal Syndrome|PPS
C536410||Neural tube defects X-linked|Anencephaly-Spina Bifida|Neural Tube Defects, X-Linked
C537741||Odontomicronychial dysplasia
C567597||46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal|Xx Male Syndrome, Sry-Negative
C566267||Hypobetalipoproteinemia, Familial|Acanthocytosis With Hypobetalipoproteinemia|Hypobetalipoproteinemia, Familial, 1|Hypobetalipoproteinemia, Normotriglyceridemic
180849|D012415||Rubinstein-Taybi Syndrome|Broad Thumb Hallux Syndrome|Broad Thumb-Hallux Syndrome|Broad Thumb-Hallux Syndromes|Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation|RSTS1|RSTS2|Rubinstein Syndrome|Rubinstein Taybi Syndrome|RUBINSTEIN-TAYBI SYNDROME 1|RUBINSTEIN-TAYBI SYNDROME 2|Syndrome, Broad Thumb-Hallux|Syndrome, Rubinstein|Syndrome, Rubinstein-Taybi|Syndromes, Broad Thumb-Hallux
C565723|609757||Williams-Beuren Region Duplication Syndrome|Chromosome 7q11.23 Duplication Syndrome|CHROMOSOME 7q11.23 TRIPLICATION SYNDROME, INCLUDED|SOMERVILLE-VAN DER AA SYNDROME WBS TRIPLICATION SYNDROME, INCLUDED|Wbs Duplication Syndrome
C537740||Odontoma dysphagia syndrome|Boder syndrome|Odontoma-Dysphagia Syndrome|Odontomatosis (multiple odontomas) with dysphagia
D049188||Prenatal Injuries|Injuries, Prenatal|Injury, Prenatal|Prenatal Injury
C565046|132450||Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness|EDMMD
C565775|604401||Arrhythmogenic Right Ventricular Dysplasia, Familial, 6|Arrhythmogenic Right Ventricular Cardiomyopathy 6|ARVC6|ARVD6
C563753|609270||Spinocerebellar Ataxia, Autosomal Recessive 7|SCAR7
613779||COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE|C3D|C3 DEFICIENCY, AUTOSOMAL RECESSIVE
D015807||Eye Injuries, Penetrating|Eye Injury, Penetrating|Injuries, Penetrating Eye|Injury, Penetrating Eye|Penetrating Eye Injuries|Penetrating Eye Injury
D050171||Dyslipidemias|Dyslipidemia|Dyslipoproteinemia|Dyslipoproteinemias
D050174||Genetic Diseases, Y-Linked|Diseases, Y-Linked Genetic|Disease, Y-Linked Genetic|Genetic Diseases, Y Chromosome Linked|Genetic Diseases, Y-Chromosome Linked|Genetic Diseases, Y Linked|Genetic Disease, Y-Linked|Y-Linked Genetic Disease|Y Linked Genetic Diseases|Y-Linked Genetic Diseases
C536403||Nephrotic syndrome ocular anomalies|Familial infantile nephrotic syndrome with ocular abnormalities|Glastre Cochat Bouvier syndrome
C566273||alpha-1-Antitrypsin Deficiency, Autosomal Recessive|Alpha-1 Antitrypsin Deficiency|Alpha-1 Protease Inhibitor Deficiency|Alpha-1 Related Emphysema|Genetic Emphysema|Hereditary Pulmonary Emphysema|Inherited Emphysema
C563311|601457||Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive|SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive
D020191|125370||Myoclonic Epilepsies, Progressive|Action Myoclonus Renal Failure Syndrome|Action Myoclonus-Renal Failure Syndrome|Ataxia, Chorea, Seizures, And Dementia|Atrophies, Dentatorubral-Pallidoluysian|Atrophy, Dentatorubral-Pallidoluysian|Atypical Inclusion Body Disease|Atypical Inclusion-Body Disease|Atypical Inclusion-Body Diseases|Biotin-Responsive Encephalopathies|Biotin Responsive Encephalopathy|Biotin-Responsive Encephalopathy|Dentatorubral-Pallidoluysian Atrophies|Dentatorubral Pallidoluysian Atrophy|Dentatorubral-Pallidoluysian Atrophy|Disease, Atypical Inclusion-Body|Disease, Naito-Oyanagi|Diseases, Atypical Inclusion-Body|Diseases, Naito-Oyanagi|DRPLA|Encephalopathies, Biotin-Responsive|Encephalopathy, Biotin-Responsive|Epilepsies, Progressive Myoclonic|Epilepsies, Progressive Myoclonus|Epilepsy, Progressive Myoclonic|Epilepsy, Progressive Myoclonus|Familial Progressive Myoclonic Epilepsy|Haw River Syndrome|Haw River Syndromes|HRS|Inclusion-Body Disease, Atypical|Inclusion-Body Diseases, Atypical|May White Syndrome|May-White Syndrome|Myoclonic Epilepsy, Progressive|MYOCLONIC EPILEPSY WITH CHOREOATHETOSIS|Myoclonus Epilepsies, Progressive|Myoclonus Nephropathy Syndrome|Myoclonus-Nephropathy Syndrome|Myoclonus-Nephropathy Syndromes|Naito Oyanagi Disease|Naito-Oyanagi Disease|Naito-Oyanagi Diseases|NOD|Oyanagi Disease, Naito|Progressive Myoclonic Epilepsies|Progressive Myoclonic Epilepsy|Progressive Myoclonus Epilepsies|Progressive Myoclonus Epilepsy|River Syndrome, Haw|River Syndromes, Haw|Syndrome, Haw River|Syndrome, Myoclonus-Nephropathy|Syndromes, Haw River|Syndromes, Myoclonus-Nephropathy
C536401||Nephropathy deafness hyperparathyroidism|Nephropathy, Deafness, And Hyperparathyroidism
C537732||Oculodental syndrome Rutherfurd syndrome|Corneal dystrophy with gum hypertrophy|Gingival hypertrophy corneal dystrophy|Gingival Hypertrophy With Corneal Dystrophy|Rutherfurd syndrome
C566275||Antibody Deficiency due to Defect in CD19
D018232|268220||Rhabdomyosarcoma, Alveolar|Alveolar Rhabdomyosarcoma|Alveolar Rhabdomyosarcomas|Rhabdomyosarcoma 2|RHABDOMYOSARCOMA, ALVEOLAR|Rhabdomyosarcomas, Alveolar|RMS2|RMSA
C536402||Nephrosis deafness urinary tract digital malformation|Nephrosis with deafness and urinary tract and digital malformations
C537733||Oculodentoosseous dysplasia recessive
D050177||Overweight
C536407||Neuhauser Eichner Opitz syndrome|Encephalopathy, recurrent, of childhood
C537738||Oculopalatoskeletal syndrome|Craniosynostosis with lid anomalies|Michels syndrome
C536408||Neural crest tumor|Neural crest-derived tumors
C537739||Oculorenocerebellar syndrome
C566270||Apolipoprotein C-III Deficiency
C536405||Neu Laxova syndrome|Neu-Laxova Syndrome
C537736||Oculomaxillofacial dysostosis|Oblique facial clefts|Oculomaxillofacial dysplasia with oblique facial clefts|Richieri Costa Gorlin syndrome
C566271||Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
C536406||Neuhauser Daly Magnelli syndrome|Essential tremors, nystagmus and duodenal ulceration|Tremor, Nystagmus, and Duodenal Ulcer|Tremor nystagmus duodenal ulcer|Tremors, nystagmus and duodenal ulcers
C537737||Oculomelic amyoplasia|Arthrogryposis, Distal, Type 5|Arthrogryposis, Distal, Type IIb|Arthrogryposis with oculomotor limitation and electroretinal abnormalities
C566272||Townes-Brocks-Branchiootorenal-Like Syndrome
C566237||Atrial Tachyarrhythmia with Short PR Interval
C567568||Hypoglossia, Isolated
C566238||Atrial Septal Defect with Atrioventricular Conduction Defects|ASD with Atrioventricular Conduction Defects
D012618|269600||Sea-Blue Histiocyte Syndrome|Disease, Sea-Blue Histiocyte|Diseases, Sea-Blue Histiocyte|Histiocyte Disease, Sea-Blue|Histiocyte Diseases, Sea-Blue|Histiocyte Syndrome, Sea Blue|Histiocyte Syndrome, Sea-Blue|Histiocyte Syndromes, Sea Blue|Histiocyte Syndromes, Sea-Blue|Histiocytoses, Sea Blue|Histiocytoses, Sea-Blue|Histiocytosis, Sea Blue|Histiocytosis, Sea-Blue|Sea Blue Histiocyte Disease|Sea-Blue Histiocyte Disease|Sea-Blue Histiocyte Diseases|Sea Blue Histiocyte Syndrome|Sea-Blue Histiocyte Syndromes|Sea Blue Histiocytoses|Sea-Blue Histiocytoses|Sea Blue Histiocytosis|Sea-Blue Histiocytosis|Syndrome, Sea-Blue Histiocyte|Syndromes, Sea-Blue Histiocyte
C566233||Azotemia, Familial
D020370||Osteoarthritis, Knee|Knee Osteoarthritides|Knee Osteoarthritis|Knee, Osteoarthritis Of|Knees, Osteoarthritis Of|Osteoarthritides, Knee|Osteoarthritis Of Knee|Osteoarthritis Of Knees
C566415|603034||Endplate Acetylcholinesterase Deficiency|CMS1C|CMS Ic|Congenital Myasthenic Syndrome Type Ic|EAD|Engel Congenital Myasthenic Syndrome|Myasthenic Syndrome, Congenital, Engel Type
C566234||Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities|De Hauwere Syndrome|Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness
C567567||Hypoglossia With Situs Inversus
C566235||Aurocephalosyndactyly|Auralcephalosyndactyly
C567566||Hypotonia, Seizures, And Precocious Puberty
C563561|158590||Neuropathy, Distal Hereditary Motor, Type IIA|Charcot-Marie-Tooth Disease, Spinal, IIA|DHMN2A|HMN2A|HMN IIA|Neuronopathy, Distal Hereditary Motor, Type IIA|NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA|Spinal Muscular Atrophy, Distal Adult Autosomal Dominant, IIA|SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA
551000||MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE|LIMM
613776||CHROMOSOME 17p13.1 DELETION SYNDROME
D006069||Gonorrhea|Gonorrheas
C580539||X-Linked Infantile Nystagmus|Congenital Motor Nystagmus|Frmd7-Related Infantile Nystagmus|Idiopathic Infantile Nystagmus|Nys1|X-Linked Congenital Nystagmus|X-Linked Idiopathic Infantile Nystagmus
D006073||Gout|Gouts
C567459|611907||Episodic Ataxia, Type 7|EA7
C580533||X-Linked Chondrodysplasia Punctata 1|Arylsulfatase E Deficiency|Cdpx1|Chondrodysplasia Punctata 1, X-Linked|X-Linked Recessive Chondrodysplasia Punctata 1
C566240||Atrial Septal Defect, Primum Type
C567571||Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor|VDDR2B
C566241||Atrial Septal Defect, Secundum Type
C567574||46,Xy Gonadal Dysgenesis, Complete, Sry-Related|Gonadal Dysgenesis, Xy Female Type
C536293|213300||Joubert syndrome 1|Cerebellar vermis agenesis|Cerebellooculorenal syndrome 1|Cerebelloparenchymal disorder 4|Cerebelloparenchymal Disorder IV|CORS1|CPD4|JBTS|JBTS1|Joubert-Boltshauser syndrome|Joubert Syndrome
C567570||Mitchell-Riley Syndrome
270550|C536787||Spastic ataxia Charlevoix-Saguenay type|ARSACS|Autosomal recessive spastic ataxia of Charlevoix-Saguenay|Charlevoix-Saguenay spastic ataxia|SACS|SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE|Spastic Ataxia, Charlevoix-Saguenay Type|Spastic ataxia of Charlevoix-Saguenay|SPAX6
D020364||Paraneoplastic Polyneuropathy|Neuropathies, Paraneoplastic|Neuropathies, Paraneoplastic Peripheral|Neuropathy, Paraneoplastic|Neuropathy, Paraneoplastic Peripheral|Paraneoplastic Neuropathies|Paraneoplastic Neuropathy|Paraneoplastic Peripheral Neuropathies|Paraneoplastic Peripheral Neuropathy|Paraneoplastic Polyneuropathies|Peripheral Neuropathies, Paraneoplastic|Peripheral Neuropathy, Paraneoplastic|Polyneuropathies, Paraneoplastic|Polyneuropathy, Paraneoplastic
D003803||Dentigerous Cyst|Cyst, Dentigerous|Cysts, Dentigerous|Dentigerous Cysts
C566248||Asymmetric Short Stature Syndrome
D020363||Limbic Encephalitis|Encephalitides, Paraneoplastic Limbic|Encephalitis, Limbic|Encephalitis, Paraneoplastic Limbic|Limbic Encephalitis, Paraneoplastic|Paraneoplastic Limbic Encephalitis
C567579||Glycogen Storage Disease, Type IXA2|GSD9A2|GSD IXA2
D020362||Paraneoplastic Cerebellar Degeneration|Anti Yo Associated Paraneoplastic Cerebellar Degeneration|Anti-Yo-Associated Paraneoplastic Cerebellar Degeneration|Cerebellar Degeneration, Paraneoplastic|Cerebellar Syndrome, Paraneoplastic|Cerebellar Syndromes, Paraneoplastic|Degeneration, Paraneoplastic Cerebellar|Paraneoplastic Cerebellar Degeneration, Anti Yo Associated|Paraneoplastic Cerebellar Degeneration, Anti-Yo-Associated|Paraneoplastic Cerebellar Syndrome|Paraneoplastic Cerebellar Syndromes
D003805||Dentin Dysplasia|Dentin Dysplasias|Dysplasia, Dentin|Dysplasias, Dentin
D020361||Paraneoplastic Syndromes, Nervous System|Autonomic Dysfunction, Paraneoplastic|Autonomic Dysfunctions, Paraneoplastic|Encephalomyelitis, Paraneoplastic|Nervous System Paraneoplastic Syndromes|Neurologic Syndrome, Paraneoplastic|Neurologic Syndromes, Paraneoplastic|Paraneoplastic Autonomic Dysfunction|Paraneoplastic Autonomic Dysfunctions|Paraneoplastic Encephalomyelitides|Paraneoplastic Encephalomyelitis|Paraneoplastic Neurologic Syndrome|Paraneoplastic Neurologic Syndromes|Syndrome, Paraneoplastic Neurologic|Syndromes, Paraneoplastic Neurologic
C567576||Rett Syndrome, Atypical
C567575||46,Xy True Hermaphroditism, Sry-Related
C566245||External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus|Atresia of External Auditory Canal and Conduction Deafness
C567578||Frontootopalatodigital Osteodysplasia
C566246||Ataxia with Fasciculations
C567577||Otopalatodigital Spectrum Disorder
C566247||Ataxia, Spastic, with Congenital Miosis|Miosis, Congenital, with Spastic Ataxia
192605||VENTRICULAR TACHYCARDIA, FAMILIAL|VENTRICULAR TACHYCARDIA, FAMILIAL POLYMORPHIC
C565593|225790||Encephaloclastic Proliferative Vasculopathy|ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY|EPV|Hydranencephaly, Fowler Type|Hydrocephaly/Hydranencephaly due to Cerebral Vasculopathy|PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME|PVHH
D045602||Steatorrhea
607078|C535505||Epiphyseal dysplasia, multiple, 5|BHMED|EDM5|Microepiphyseal Dysplasia, Bilateral Hereditary|Multiple epiphyseal dysplasia 5|Multiple epiphyseal dysplasia, MATN3 related|Multiple Epiphyseal Dysplasia, Matn3-Related
C562687|222700||Lysinuric Protein Intolerance|Dibasic Amino Aciduria II|Hyperdibasic Aminoaciduria|LPI|LPI - Lysinuric Protein Intolerance
127750|D020961||Lewy Body Disease|Cortical Lewy Body Disease|Dementia, Lewy Body|Diffuse Lewy Body Disease|DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY, INCLUDED|DLB|Lewy Body Dementia|Lewy Body Disease, Cortical|Lewy Body Disease, Diffuse|Lewy Body Type Senile Dementia|LEWY BODY VARIANT OF ALZHEIMER DISEASE, INCLUDED
C567833|612989||Optic Atrophy 7|OPA7
D006086||Graft vs Host Disease|Disease, Graft-Versus-Host|Disease, Graft-vs-Host|Disease, Homologous Wasting|Disease, Runt|Diseases, Graft-Versus-Host|Diseases, Graft-vs-Host|Graft Versus Host Disease|Graft-Versus-Host Disease|Graft-Versus-Host Diseases|Graft-vs-Host Disease|Graft-vs-Host Diseases|Homologous Wasting Disease|Runt Disease
612433||DEAFNESS, AUTOSOMAL RECESSIVE 45|DFNB45
612431||DEAFNESS, AUTOSOMAL DOMINANT 27|DFNA27
D006083||Graft Occlusion, Vascular|Graft Restenoses, Vascular|Graft Restenosis, Vascular|Occlusion, Vascular Graft|Restenosis, Vascular Graft|Vascular Graft Occlusion|Vascular Graft Restenosis
C537564|156400||Jansen type metaphyseal chondrodysplasia|Metaphyseal Chondrodysplasia, Jansen Type|Metaphyseal chondrodysplasia Murk Jansen type|Metaphyseal Chondrodysplasia, Murk Jansen Type|Murk Jansen type metaphyseal chondrodysplasia
C567583||Mental Retardation, X-Linked, Znf711-Related|Mental retardation, X-linked 97
C567585||Chromosome Xp11.23-P11.22 Duplication Syndrome
C566253||Arteritis, Familial Granulomatous, with Juvenile Polyarthritis
C567584||Mental Retardation, X-Linked, Syp-Related|MRXSYP
C566646|601650||Paragangliomas 2|Glomus Tumors, Familial, 2|PGL2
D003807||Dentin Sensitivity|Dentine Hypersensitivities|Dentine Hypersensitivity|Dentine Sensitivities|Dentine Sensitivity|Dentin Hypersensitivities|Dentin Hypersensitivity|Dentin Sensitivities|Hypersensitivities, Dentin|Hypersensitivities, Dentine|Hypersensitivity, Dentin|Hypersensitivity, Dentine|Sensitivities, Dentin|Sensitivities, Dentine|Sensitivity, Dentin|Sensitivity, Dentine
D018058||Tympanic Membrane Perforation|Eardrum Perforation|Membrane Perforation, Tympanic|Membrane Rupture, Tympanic|Perforation, Eardrum|Rupture, Tympanic Membrane|Tympanic Membrane Rupture
253800||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4|FCMD|FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY|MDDGA4|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
D003809||Dentin, Secondary|Dentins, Secondary|Secondary Dentin|Secondary Dentins
C536096|159900||Myoclonic dystonia|Alcohol-Responsive Dystonia|Dystonia 11|Dystonia, Alcohol-Responsive|DYT11|Hereditary essential myoclonus|Myoclonus-Dystonia|Myoclonus-dystonia syndrome|Myoclonus, hereditary essential
C567580||Chromosome Xq28 Duplication Syndrome|Gdi1 Duplication Syndrome
C566250||Aryl Hydrocarbon Hydroxylase Inducibility|AHH Inducibility
C567547||Corneal Dystrophy, Subepithelial Mucinous|Subepithelial Mucinous Corneal Dystrophy
C567546||Corneal Dystrophy, Posterior Amorphous|Posterior Amorphous Corneal Dystrophy
611247|C567073||Major Affective Disorder 4|BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD4
143465|D001289||Attention Deficit Disorder with Hyperactivity|ADHD|ADHD1|ADHD2|ADHD3|ADHD4|ADHD5|ADHD6|ADHD7|Attention Deficit Disorder|Attention Deficit Disorders|Attention Deficit Disorders with Hyperactivity|Attention Deficit Hyperactivity Disorder|Attention Deficit-Hyperactivity Disorder|Attention Deficit Hyperactivity Disorders|Attention Deficit-Hyperactivity Disorders|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7|Brain Dysfunction, Minimal|Deficit Disorder, Attention|Deficit Disorders, Attention|Deficit-Hyperactivity Disorder, Attention|Deficit-Hyperactivity Disorders, Attention|DIGIT SPAN QUANTITATIVE TRAIT LOCUS|Disorder, Attention Deficit|Disorder, Attention Deficit-Hyperactivity|Disorders, Attention Deficit|Disorders, Attention Deficit-Hyperactivity|Dysfunction, Minimal Brain|HYPERACTIVITY OF CHILDHOOD|Hyperkinetic Syndrome|Minimal Brain Dysfunction|MOTOR TIMING QUANTITATIVE TRAIT LOCUS|Syndromes, Hyperkinetic
C536328|600273||Polycystic kidneys, severe infantile with tuberous sclerosis|CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL|PKDTS|Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis|Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
C567545||Metaphyseal Anadysplasia 1|MANDP1
C567544||Sensorineural Deafness With Mild Renal Dysfunction
C566214||Adult i Blood Group with Congenital Cataract|Adult i Blood Group Phenotype|Adult i Blood Group without Congenital Cataract
215400|D002817||Chordoma|CHDM|Chordomas|CHORDOMA, SUSCEPTIBILITY TO
D007383||Intermittent Claudication|Claudication, Intermittent
C567552||Spondylodysplasia And Premature Pubarche
D058926||Intraoperative Awareness|Anesthesia Awareness|Anesthesia, Awareness During|Awareness, Anesthesia|Awareness During Anesthesia|Awareness, Intraoperative|During Anesthesia, Awareness
601776||EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1|ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME|ADDUCTED THUMB-CLUBFOOT SYNDROME|ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS|ATCS|DUNDAR SYNDROME|EDS6B, FORMERLY|EDSMC|EDSMC1|EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY
D058923||Medial Tibial Stress Syndrome|Medial Tibial Stress Syndrome (MTSS)|Shin Splint|Shin Splints
D058922||Inflammatory Breast Neoplasms|Breast Cancer, Inflammatory|Breast Cancers, Inflammatory|Breast Carcinoma, Inflammatory|Breast Carcinomas, Inflammatory|Breast Neoplasm, Inflammatory|Breast Neoplasms, Inflammatory|Cancer, Inflammatory Breast|Cancers, Inflammatory Breast|Carcinoma, Inflammatory Breast|Carcinomas, Inflammatory Breast|Inflammatory Breast Cancer|Inflammatory Breast Cancer (IBC)|Inflammatory Breast Cancers|Inflammatory Breast Carcinoma|Inflammatory Breast Carcinomas|Inflammatory Breast Neoplasm|Neoplasm, Inflammatory Breast|Neoplasms, Inflammatory Breast
C566226||Basilar Impression, Primary
C567557||Cardiac Conduction Defect, Nonspecific
C566228||Banki Syndrome
C566222||Bpes With Duane Retraction Syndrome|Bpes, Type I, Autosomal Recessive|Bpes Without Ovarian Failure|Bpes With Ovarian Failure
C567553||Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
C566223||Blepharochalasis, Superior
D020347||Lithiasis|Calculoses|Calculosis|Lithiases
226600|D016108||Epidermolysis Bullosa Dystrophica|Bullosa Dystrophica, Epidermolysis|Bullosa Dystrophicas, Epidermolysis|Bullosa, Dystrophic Epidermolysis|Bullosas, Dystrophic Epidermolysis|Cockayne Touraine Disease|Cockayne-Touraine Disease|Cockayne Touraine Type Epidermolysis Bullosa|Cockayne-Touraine Type Epidermolysis Bullosa|Dystrophica, Epidermolysis Bullosa|Dystrophicas, Epidermolysis Bullosa|Dystrophic Epidermolysis Bullosa|Dystrophic Epidermolysis Bullosa, Autosomal Recessive|Dystrophic Epidermolysis Bullosas|Epidermolysis Bullosa, Dystrophic|Epidermolysis Bullosa Dystrophica, Autosomal Recessive|Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type|Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type|Epidermolysis Bullosa Dystrophica, Dominant|Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type|Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type|EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE;EBR1 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED|EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED|Epidermolysis Bullosa Dystrophica, Recessive|Epidermolysis Bullosa Dystrophicas|Epidermolysis Bullosas, Dystrophic|Hallopeau Siemens Disease|Hallopeau-Siemens Disease|RDEB
D006059||Gonadal Dysgenesis|Dysgenesis, Gonadal|Gonadal Agenesis
D020345||Enterocolitis, Necrotizing|Necrotizing Enterocolitis
D006058||Gonadal Disorders|Disorder, Gonadal|Disorders, Gonadal|Gonadal Disorder
D020343||Hypertensive Encephalopathy|Encephalopathy, Hypertensive
D006060||Gonadal Dysgenesis, Mixed|Mixed Gonadal Dysgenesis
D006061||Gonadal Dysgenesis, 46,XY|46,XY Complete Gonadal Dysgenesis|46, XY Gonadal Dysgenesis|46, XY Gonadal Sex Reversal|Complete Gonadal Dysgenesis, 46, XY|Gonadal Dysgenesis, 46, XY|Pure Gonadal Dysgenesis 46,XY|Pure Gonadal Dysgenesis, 46, XY|Sex Reversal, Gonadal, 46, XY|Swyer Syndrome|Syndrome, Swyer|XY Pure Gonadal Dysgenesis
C565710|610187||Diaphragmatic Hernia 3|DIH3
C566230||Ovalocytosis, Malaysian-Melanesian-Filipino Type
C566231||Elliptocytosis 4
600430||BRACHYDACTYLY-MENTAL RETARDATION SYNDROME|ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME CHROMOSOME 2q37 DELETION SYNDROME, INCLUDED|BDMR
D019462||Syncope, Vasovagal|Cerebral Syncope|Cerebral Syncopes|Faint, Neurally Mediated|Faints, Neurally Mediated|Malignant Neurocardiogenic Syncope|Malignant Neurocardiogenic Syncopes|Neurally Mediated Faint|Neurally Mediated Faints|Neurocardiogenic Syncope|Neurocardiogenic Syncope, Malignant|Neurocardiogenic Syncopes|Neurocardiogenic Syncopes, Malignant|Neurogenic Syncope|Neurogenic Syncopes|Supine Syncope|Supine Syncopes|Syncope, Cerebral|Syncope, Malignant Neurocardiogenic|Syncope, Neurocardiogenic|Syncope, Neurogenic|Syncopes, Cerebral|Syncopes, Malignant Neurocardiogenic|Syncopes, Neurocardiogenic|Syncopes, Neurogenic|Syncopes, Supine|Syncope, Supine|Syncopes, Vasodepressor|Syncopes, Vasovagal|Syncope, Vasodepressor|Syncope, Vasovagal, Neurally-Mediated|Vasodepressor Syncope|Vasodepressor Syncopes|Vasovagal Syncope|Vasovagal Syncopes
183600|C567893||Split hand foot deformity 1|ECD|ECTRODACTYLY|SHFD1|SHFM1|SHSF1|SPLIT-HAND DEFORMITY|Split-Hand/Foot Deformity 1|Split hand foot malformation 1|Split-Hand/Foot Malformation 1|SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS
D019465||Craniofacial Abnormalities|Abnormalities, Craniofacial|Abnormality, Craniofacial|Craniofacial Abnormality
607004|C564635||Brachydactyly, Type A1, B|BDA1B
C567402||Diastasis Recti And Weakness Of The Linea Alba
C567401||Cerebroretinal Microangiopathy with Calcifications and Cysts|Coats Plus Syndrome|Labrune Syndrome|Leukoencephalopathy Brain Calcifications and Cysts
268310|C535863||Robinow syndrome, autosomal recessive|COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY|COVESDEM SYNDROME, FORMERLY ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDED|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY, INCLUDED|RRS
D021782||Multicystic Dysplastic Kidney|Bilateral Multicystic Dysplastic Kidneys|Dysplasia, Multicystic Kidney|Dysplasia, Multicystic Renal|Dysplasias, Multicystic Kidney|Dysplasias, Multicystic Renal|Kidney Dysplasia, Multicystic|Kidney Dysplasias, Multicystic|Multicystic Dysplastic Kidneys|Multicystic Kidney|Multicystic Kidney Dysplasia|Multicystic Kidney Dysplasias|Multicystic Kidneys|Multicystic Renal Dysplasia|Multicystic Renal Dysplasias|Renal Dysplasia, Multicystic|Renal Dysplasias, Multicystic|Unilateral Multicystic Dysplastic Kidney
C567409||Usher Syndrome, Type ID/F
252500||MUCOLIPIDOSIS II ALPHA/BETA|ICD|I-CELL DISEASE|ML II|ML II ALPHA/BETA|MUCOLIPIDOSIS II
C538116|306955||Heterotaxy, visceral, X-linked|CHTD1, INCLUDED|Dextrocardia with other cardiac malformations|Heterotaxy, Visceral, 1, X-Linked|Heterotaxy, Visceral, 5, Autosomal|HTX1|Laterality, X-linked|Situs inversus, complex cardiac defects, and splenic defects, X-linked|SITUS INVERSUS, COMPLEX CARDIAC DEFECTS, AND SPLENIC DEFECTS, X-LINKED CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED, INCLUDED|Visceral heterotaxia
D007589|243700||Job Syndrome|Autosomal Dominant HIES|Autosomal Dominant HIESs|Autosomal Recessive HIES|Autosomal Recessive HIESs|Buckley Syndrome|Buckley Syndromes|HIES, Autosomal Dominant|HIES, Autosomal Recessive|HIESs, Autosomal Dominant|HIESs, Autosomal Recessive|HIE Syndrome|HIE Syndromes|Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive|Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive|Hyper IgE Syndrome|Hyper-IgE Syndrome|Hyper IgE Syndrome, Autosomal Dominant|Hyper-IgE Syndrome, Autosomal Dominant|Hyper IgE Syndrome, Autosomal Recessive|Hyper-IgE Syndrome, Autosomal Recessive|Hyper-IgE Syndromes|Hyperimmunoglobulinemia E Syndrome|Hyperimmunoglobulinemia E Syndromes|Hyperimmunoglobulin E Recurrent Infection Syndrome|Hyperimmunoglobulin E-Recurrent Infection Syndrome|Hyperimmunoglobulin E, Recurrent Infection Syndrome|Hyper Immunoglobulin E Syndrome, Autosomal Dominant|Hyper-Immunoglobulin E Syndrome, Autosomal Dominant|Hyper Immunoglobulin E Syndrome, Autosomal Recessive|Hyper-Immunoglobulin E Syndrome, Autosomal Recessive|Job Buckley Syndrome|Job-Buckley Syndrome|Job-Buckley Syndromes|Job&apos;s Syndrome|Jobs Syndrome|Job Syndromes|Syndrome, Buckley|Syndrome, HIE|Syndrome, Hyper-IgE|Syndrome, Hyperimmunoglobulinemia E|Syndrome, Job|Syndrome, Job-Buckley|Syndrome, Job&apos;s|Syndromes, Buckley|Syndromes, HIE|Syndromes, Hyperimmunoglobulinemia E|Syndromes, Job|Syndromes, Job-Buckley
C563695|609573||Photoparoxysmal Response 3|Photoparoxysmal Response With Or Without Myoclonic Epilepsy|PPR3
D018126||Odontodysplasia|Dysplasia, Odontogenic|Dysplasias, Odontogenic|Ghost Teeth|Ghost Tooth|Odontodysplasias|Odontogenesis Imperfecta|Odontogenic Dysplasia|Odontogenic Dysplasias|Teeth, Ghost|Tooth, Ghost
D019457||Chromosome Breakage|Breakage, Chromosomal|Breakage, Chromosome|Breakages, Chromosomal|Breakages, Chromosome|Break, Chromosomal|Break, Chromosome|Breaks, Chromosomal|Breaks, Chromosome|Chromosomal Break|Chromosomal Breakage|Chromosomal Breakages|Chromosomal Breaks|Chromosome Break|Chromosome Breakages|Chromosome Breaks
C537768|601186||Anophthalmia with pulmonary hypoplasia|Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm|Anophthalmia/Microphthalmia And Pulmonary Hypoplasia|Matthew Wood syndrome|Matthew-Wood syndrome|MCOPCB8, INCLUDED|MCOPS9|Microphthalmia, Syndromic 9|Pulmonary agenesis, Microphthalmia, and Diaphragmatic defect|PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT;PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, INCLUDED|Spear Syndrome
C567412||Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia
C537004|220111||Leigh syndrome , French Canadian type|Cox deficiency, French Canadian type|Cox Deficiency, French-Canadian Type|Cox deficiency, Saguenay Lac saint Jean type|Cox Deficiency, Saguenay-Lac Saint-Jean Type|COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE|Cytochrome c oxidase deficiency, French Canadian type|Cytochrome C Oxidase Deficiency, French-Canadian Type|Leigh Syndrome, French-Canadian Type|LEIGH SYNDROME, FRENCH CANADIAN TYPE|Leigh syndrome, Saguenay Lac saint Jean type|Leigh Syndrome, Saguenay-Lac Saint-Jean Type|LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE|LSFC
D020447||Parasomnias|Benign Neonatal Sleep Myoclonus|Drunkennesses, Sleep|Drunkenness, Sleep|Myoclonus, Benign Neonatal Sleep|Neonatal Sleep Myoclonus, Benign|Parasomnia|Paroxysm, Sleep Sensory|Paroxysms, Sleep Sensory|Sensory Paroxysm, Sleep|Sensory Paroxysms, Sleep|Sleep Drunkenness|Sleep Drunkennesses|Sleep Related Abnormal Swallowing Syndrome|Sleep-Related Abnormal Swallowing Syndrome|Sleep Sensory Paroxysm|Sleep Sensory Paroxysms
C567476|300706||Mental Retardation, X-Linked, Syndromic, Turner Type|Mental Retardation and Macrocephaly Syndrome|MRXST|MRXS-Turner
C536042|166210||Osteogenesis imperfecta, type 2A|OI2|OIC|OI, TYPE II|Osteogenesis imperfecta congenita|Osteogenesis imperfecta congenita, perinatal lethal form|OSTEOGENESIS IMPERFECTA, TYPE II|Osteogenesis Imperfecta, Type IIA|Vrolik Disease|Vrolik type of osteogenesis imperfecta
C563794|609115||Limb-Girdle Muscular Dystrophy, Type 1G|LGMD1G
607624|C537302||Griscelli syndrome type 2|Albinism, partial with immunodeficiency|Griscelli Syndrome, Type 2|Griscelli syndrome with hemophagocytic syndrome|GS2|PAID SYNDROME|Partial albinism and immunodeficiency|Partial Albinism And Immunodeficiency Syndrome
C567420||Deafness, Unilateral, With Delayed Endolymphatic Hydrops
D020430||Cubital Tunnel Syndrome|Cubital Tunnel Syndromes|Syndrome, Cubital Tunnel|Syndromes, Cubital Tunnel|Tunnel Syndrome, Cubital|Tunnel Syndromes, Cubital|Ulnar Nerve Compression, Cubital Tunnel|Ulnar Nerve Entrapment, Elbow
C538564|603554||Reticuloendotheliosis, familial, with eosinophilia|OMENN SYNDROME|RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA|Severe combined immunodeficiency with hypereosinophilia
604250|C537248||Hemochromatosis, type 3|Hemochromatosis due to defect in transferrin receptor 2|HFE3
D020437||Hypoglossal Nerve Diseases|Cranial Nerve XII Diseases|Cranial Nerve XII Disorders|Hypoglossal Nerve Disease|Hypoglossal Nerve Palsies|Hypoglossal Nerve Palsy|Hypoglossal Neuralgia|Hypoglossal Neuralgias|Hypoglossal Neuropathies|Hypoglossal Neuropathy|Neuralgia, Hypoglossal|Neuralgias, Hypoglossal|Neuropathies, Hypoglossal|Neuropathy, Hypoglossal|Palsies, Hypoglossal Nerve|Palsy, Hypoglossal Nerve|Twelfth Cranial Nerve Diseases|Twelfth Cranial Nerve Disorder
D020436||Accessory Nerve Diseases|Accessory Nerve Disease|Cranial Nerve Eleven Diseases|Cranial Nerve Eleven Disorders|Cranial Nerve XI Diseases|Eleventh Cranial Nerve Disease|Spinal Accessory Nerve Diseases
D020435||Glossopharyngeal Nerve Diseases|Cranial Nerve IX Diseases|Cranial Nerve IX Disorders|Glossopharyngeal Motor Neuropathies|Glossopharyngeal Motor Neuropathy|Glossopharyngeal Nerve Disease|Glossopharyngeal Nerve Sensory Neuropathy|Glossopharyngeal Nerve Taste Disorder|Glossopharyngeal Neuralgia|Glossopharyngeal Neuralgias|Motor Neuropathies, Glossopharyngeal|Motor Neuropathy, Glossopharyngeal|Neuralgia, Glossopharyngeal|Neuralgias, Glossopharyngeal|Ninth Cranial Nerve Diseases|Sensory Neuropathy, Glossopharyngeal Nerve|Taste Disorder, Glossopharyngeal Nerve
D020434||Abducens Nerve Diseases|6th Nerve Palsies|6th Nerve Palsy|Abducens Nerve Disease|Abducens Nerve Palsies|Abducens Nerve Palsy|Abducens Palsy, Childhood, Benign Recurrent|Benign Recurrent Abducens Palsy, Children|Benign Recurrent Abducens Palsy of Childhood|Cranial Nerve VI Diseases|Cranial Nerve VI Palsy|Lateral Rectus Palsies|Lateral Rectus Palsy|Nerve Palsies, 6th|Nerve Palsies, VI|Nerve Palsy, 6th|Nerve Palsy, VI|Palsies, 6th Nerve|Palsies, Abducens Nerve|Palsies, Lateral Rectus|Palsies, Sixth Nerve|Palsies, VI Nerve|Palsy, 6th Nerve|Palsy, Abducens Nerve|Palsy, Lateral Rectus|Palsy, Sixth Nerve|Palsy, VI Nerve|Sixth Cranial Nerve Diseases|Sixth Cranial Nerve Disorders|Sixth Cranial Nerve Palsy|Sixth Nerve Palsies|Sixth Nerve Palsy|VI Nerve Palsy|VIth Cranial Nerve Diseases
D020433||Trigeminal Nerve Diseases|Cranial Nerve V Diseases|Fifth Cranial Nerve Diseases|Idiopathic Trigeminal Neuropathies|Idiopathic Trigeminal Neuropathy|Neuropathies, Idiopathic Trigeminal|Neuropathies, Trigeminal|Neuropathy, Idiopathic Trigeminal|Neuropathy, Trigeminal|Raeder Paratrigeminal Syndrome|Syndrome, Raeder Paratrigeminal|Trigeminal Nerve Disease|Trigeminal Nerve Disorder|Trigeminal Nerve Disorders|Trigeminal Neuropathies|Trigeminal Neuropathies, Idiopathic|Trigeminal Neuropathy|Trigeminal Neuropathy, Idiopathic
D020432||Trochlear Nerve Diseases|Cranial Nerve IV Diseases|Fourth Cranial Nerve Diseases|Fourth Cranial Nerve Palsy|Fourth Nerve Palsies|Fourth Nerve Palsy|Myokymias, Superior Oblique|Myokymia, Superior Oblique|Neurogenic Superior Oblique Palsy|Neuropathies, Trochlear|Neuropathy, Trochlear|Palsies, Fourth Nerve|Palsies, Trochlear Nerve|Palsy, Fourth Nerve|Palsy, Trochlear Nerve|Superior Oblique Myokymia|Superior Oblique Myokymias|Superior Oblique Palsy, Neurogenic|Trochlear Nerve Disease|Trochlear Nerve Disorder|Trochlear Nerve Disorders|Trochlear Nerve Palsies|Trochlear Nerve Palsy|Trochlear Neuropathies|Trochlear Neuropathy
D020431||Olfactory Nerve Diseases|Cranial Nerve I Diseases|Cranial Nerve I Disorders|First Cranial Nerve Diseases|Olfactory Nerve Disease
D006130||Growth Disorders|Disorder, Growth|Growth Disorder
C536049|610915||Osteogenesis imperfecta, type VIII|OI8|OI, TYPE VIII
607836||AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1|AIS1|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED|VAMAS2|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2
C567378|612261||Inflammatory Bowel Disease 17|IBD17
D020427||Peroneal Neuropathies|Common Peroneal Neuropathies|Common Peroneal Neuropathy|Deep Peroneal Neuropathies|Deep Peroneal Neuropathy|External Popliteal Neuropathies|External Popliteal Neuropathy|Fibular Nerve Disease|Fibular Nerve Diseases|Fibular Neuropathies|Fibular Neuropathy|Lateral Popliteal Neuropathies|Lateral Popliteal Neuropathy|Nerve Disease, Fibular|Nerve Disease, Peroneal|Nerve Diseases, Fibular|Nerve Diseases, Peroneal|Nerve Paralyses, Peroneal|Nerve Paralysis, Peroneal|Neuropathies, Common Peroneal|Neuropathies, Deep Peroneal|Neuropathies, External Popliteal|Neuropathies, Fibular|Neuropathies, Lateral Popliteal|Neuropathies, Peroneal|Neuropathies, Superficial Peroneal|Neuropathy, Common Peroneal|Neuropathy, Deep Peroneal|Neuropathy, External Popliteal|Neuropathy, Fibular|Neuropathy, Lateral Popliteal|Neuropathy, Peroneal|Neuropathy, Superficial Peroneal|Paralyses, Peroneal Nerve|Paralysis, Peroneal Nerve|Peroneal Nerve Disease|Peroneal Nerve Diseases|Peroneal Nerve Paralyses|Peroneal Nerve Paralysis|Peroneal Neuropathies, Common|Peroneal Neuropathies, Deep|Peroneal Neuropathies, Superficial|Peroneal Neuropathy|Peroneal Neuropathy, Common|Peroneal Neuropathy, Deep|Peroneal Neuropathy, Superficial|Popliteal Neuropathies, External|Popliteal Neuropathies, Lateral|Popliteal Neuropathy, External|Popliteal Neuropathy, Lateral|Superficial Peroneal Neuropathies|Superficial Peroneal Neuropathy
D020426||Sciatic Neuropathy|Lesion of Sciatic Nerve|Nerve Disease, Sciatic|Nerve Diseases, Sciatic|Nerve Lesion, Sciatic|Nerve Lesions, Sciatic|Nerve Palsies, Sciatic|Nerve Palsy, Sciatic|Neuralgia-Neuritides, Sciatic Nerve|Neuralgia Neuritis, Sciatic Nerve|Neuralgia-Neuritis, Sciatic Nerve|Neuritides, Sciatic|Neuritis, Sciatic|Neuropathies, Sciatic|Neuropathy, Sciatic|Palsies, Sciatic Nerve|Palsy, Sciatic Nerve|Sciatic Nerve Disease|Sciatic Nerve Diseases|Sciatic Nerve Lesion|Sciatic Nerve Lesions|Sciatic Nerve Neuralgia-Neuritides|Sciatic Nerve Neuralgia-Neuritis|Sciatic Nerve Palsies|Sciatic Nerve Palsy|Sciatic Neuritides|Sciatic Neuritis|Sciatic Neuropathies
D020425||Radial Neuropathy|Crutch Palsies|Crutch Palsy|Lesion, Radial Nerve|Lesions, Radial Nerve|Lesion, Superficial Radial Nerve|Nerve Disease, Radial|Nerve Diseases, Radial|Nerve Lesion, Radial|Nerve Lesions, Radial|Neuropathies, Radial|Neuropathy, Radial|Palsies, Crutch|Palsy, Crutch|Radial Nerve Disease|Radial Nerve Diseases|Radial Nerve Lesion|Radial Nerve Lesions|Radial Neuropathies|Saturday Night Palsies|Saturday Night Palsy|Superficial Radial Nerve Lesion
D020424||Ulnar Neuropathies|Nerve Diseases, Ulnar|Nerve Disease, Ulnar|Nerve Palsies, Ulnar|Nerve Palsy, Ulnar|Neuritides, Ulnar|Neuritis, Ulnar|Neuropathies, Ulnar|Neuropathy, Ulnar|Palsies, Ulnar Nerve|Palsy, Ulnar Nerve|Ulnar Nerve Disease|Ulnar Nerve Diseases|Ulnar Nerve Palsies|Ulnar Nerve Palsy|Ulnar Neuritides|Ulnar Neuritis|Ulnar Neuropathy
D020423||Median Neuropathy|Distal Medial Neuropathies|Distal Medial Neuropathy|Medial Neuropathies, Distal|Medial Neuropathy, Distal|Median Nerve Disease|Median Nerve Diseases|Median Nerve Neuralgia|Median Nerve Neuralgias|Median Neuropathies|Median Neuropathies, Proximal|Median Neuropathy, Proximal|Nerve Disease, Median|Nerve Diseases, Median|Neuralgia, Median Nerve|Neuralgias, Median Nerve|Neuropathies, Distal Medial|Neuropathies, Median|Neuropathies, Proximal Median|Neuropathy, Distal Medial|Neuropathy, Median|Neuropathy, Proximal Median|Proximal Median Neuropathies|Proximal Median Neuropathy
D020422||Mononeuropathies|Mononeuritides|Mononeuritis|Mononeuritis Multiplex|Mononeuropathy|Mononeuropathy Multiplex|Mononeuropathy Multiplex Syndrome|Mononeuropathy Multiplex Syndromes|Syndrome, Mononeuropathy Multiplex|Syndromes, Mononeuropathy Multiplex
C563739|609313||Erythrokeratodermia Variabilis 3|EKV3|ERYTHROKERATODERMIA VARIABILIS 3|Erythrokeratodermia Variabilis, Kamouraska Type|MEDNIK|MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
D020421||Vagus Nerve Diseases|Cranial Nerve X Diseases|Disorder, Pneumogastric Nerve|Disorders, Pneumogastric Nerve|Motor Disorder, Vagus Nerve|Neuropathies, Vagus|Neuropathy, Vagus|Pneumogastric Nerve Disorder|Pneumogastric Nerve Disorders|Sensory Disorder, Vagus Nerve|Tenth Cranial Nerve Diseases|Vagus Nerve Disease|Vagus Nerve Disorder|Vagus Nerve Disorders|Vagus Nerve Motor Disorder|Vagus Nerve Sensory Disorder|Vagus Neuropathies|Vagus Neuropathy
D008796||Metrorrhagia|Bleeding Between Periods|Bleeding, Breakthrough|Breakthrough Bleeding|Dysfunctional Uterine Bleeding|Dysfunctional Uterine Bleedings|Intermenstrual Bleeding|Spotting|Uterine Bleeding, Dysfunctional
604271|C565805||Short Stature, Idiopathic, Autosomal|Growth Hormone Deficiency, Isolated, Partial|Growth Hormone, Insensitivity To, Partial|PARTIAL IGHD GROWTH HORMONE, INSENSITIVITY TO, PARTIAL, INCLUDED
D020429||Tibial Neuropathy|Internal Popliteal Neuropathies|Internal Popliteal Neuropathy|Lateral Plantar Neuropathies|Lateral Plantar Neuropathy|Medial Plantar Nerve Disease|Medial Plantar Neuropathies|Medial Plantar Neuropathy|Medial Popliteal Neuropathies|Medial Popliteal Neuropathy|Nerve Diseases, Tibial|Nerve Disease, Tibial|Neuropathies, Internal Popliteal|Neuropathies, Lateral Plantar|Neuropathies, Medial Plantar|Neuropathies, Medial Popliteal|Neuropathies, Posterior Tibial|Neuropathies, Tibial|Neuropathy, Internal Popliteal|Neuropathy, Lateral Plantar|Neuropathy, Medial Plantar|Neuropathy, Medial Popliteal|Neuropathy, Posterior Tibial|Neuropathy, Post-Traumatic Tibial|Neuropathy, Tibial|Plantar Neuropathy, Lateral|Plantar Neuropathy, Medial|Popliteal Neuropathies, Internal|Popliteal Neuropathies, Medial|Popliteal Neuropathy, Internal|Popliteal Neuropathy, Medial|Posterior Tibial Nerve Diseases|Posterior Tibial Neuropathies|Posterior Tibial Neuropathy|Post-Traumatic Tibial Neuropathies|Post-Traumatic Tibial Neuropathy|Tibial Nerve Disease|Tibial Nerve Diseases|Tibial Neuropathies|Tibial Neuropathies, Posterior|Tibial Neuropathies, Post-Traumatic|Tibial Neuropathy, Posterior|Tibial Neuropathy, Post Traumatic|Tibial Neuropathy, Post-Traumatic
D020428||Femoral Neuropathy|Femoral Mononeuropathies|Femoral Mononeuropathy|Femoral Nerve Disease|Femoral Nerve Diseases|Femoral Neuritis|Femoral Neuropathies|Mononeuropathies, Femoral|Mononeuropathy, Femoral|Nerve Disease, Femoral|Nerve Diseases, Femoral|Neuropathies, Femoral|Neuropathy, Femoral
D019449||Pouchitis|Ileitis, Pouch|Pouch Ileitis
C566443|610102||Complement Component 7 Deficiency|C7D|C7 Deficiency
D010235|168000||Paraganglioma|CAROTID BODY TUMORS|CBT1|CHEMODECTOMAS|Gangliocytic Paraganglioma|Gangliocytic Paragangliomas|GLOMUS JUGULARE TUMORS|GLOMUS TUMORS, FAMILIAL, 1|PARAGANGLIOMA, CAROTID BODY|Paraganglioma, Gangliocytic|Paragangliomas|Paragangliomas 1|Paragangliomas, Familial, 1|PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1 PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS, INCLUDED|Paragangliomas, Gangliocytic|Paragangliomata|PGL|PGL1
C567714|613192||Mental Retardation, Autosomal Recessive 13|Mrt13
D057768||Infantile Apparent Life-Threatening Event|Idiopathic Apparent Life Threatening Event|Idiopathic Apparent Life-Threatening Event|Infantile Apparent Life Threatening Event
D019446||Endotoxemia|Endotoxemias
D057767||Kashin-Beck Disease|Disease, Kashin-Beck|Kashin Beck Disease
C536677|193230||Snowflake vitreoretinal degeneration|Snowflake degeneration in hereditary vitreoretinal degeneration|SNOWFLAKE VITREORETINAL DEGENERATION|SVD|Vitreoretinal degeneration, Snowflake type
D006105||Granulomatous Disease, Chronic|Autosomal Recessive Chronic Granulomatous Disease|Chronic Granulomatous Disease|Chronic Granulomatous Diseases|Disease, Chronic Granulomatous|Diseases, Chronic Granulomatous|Granulomatous Diseases, Chronic|X Linked Chronic Granulomatous Disease|X-Linked Chronic Granulomatous Disease
D006106||Granulosa Cell Tumor|Cancer, Granulosa Cell|Cancer of Granulosa Cells|Cancers, Granulosa Cell|Cell Cancer, Granulosa|Cell Cancers, Granulosa|Cells Cancer, Granulosa|Cells Cancers, Granulosa|Granulosa Cell Cancer|Granulosa Cell Cancers|Granulosa Cells Cancer|Granulosa Cells Cancers|Granulosa Cell Tumors|Tumor, Granulosa Cell|Tumors, Granulosa Cell
D006103||Granuloma, Lethal Midline|Granuloma Gangraenescens|Granulomas, Lethal Midline|Lethal Midline Granuloma|Lethal Midline Granulomas|Midline Granuloma, Lethal|Midline Granulomas, Lethal|Polymorphic Reticuloses|Polymorphic Reticulosis|Reticuloses, Polymorphic|Reticulosis, Polymorphic
D006104||Granuloma, Plasma Cell|Granulomas, Plasma Cell|Inflammatory Pseudotumor|Inflammatory Pseudotumors|Plasma Cell Granuloma|Plasma Cell Granulomas|Pseudotumor, Inflammatory|Pseudotumors, Inflammatory
D006101||Granuloma, Giant Cell|Epulides, Giant Cell|Epulis, Giant Cell|Giant Cell Epulides|Giant Cell Epulis|Giant Cell Granuloma|Giant Cell Granulomas|Granuloma, Giant Cell Reparative|Granulomas, Giant Cell|Peripheral Giant Cell Granuloma
C536880|604320||Spinal muscular atrophy with respiratory distress 1|Autosomal Recessive Distal Spinal Muscular Atrophy 1|Dhmn6|Diaphragmatic Spinal Muscular Atrophy|Distal Hereditary Motor Neuronopathy Type Vi|Distal Spinal Muscular Atrophy Type 1|Dsma1|Hmn6|Hmnvi|HMN VI|Neuronopathy, Distal Hereditary Motor, Type VI|Neuronopathy, Severe Infantile Axonal, With Respiratory Failure|Severe Infantile Axonal Neuropathy With Respiratory Failure|Sianrf|Smard1|Spinal Muscular Atrophy, Diaphragmatic|Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1|Spinal Muscular Atrophy with Respiratory Distress|SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1|Spinal Muscular Atrophy with Respiratory Distress Type 1
D006102||Granuloma, Laryngeal|Granuloma of Larynx|Granulomas, Laryngeal|Laryngeal Granuloma|Laryngeal Granulomas|Larynx Granuloma|Larynx Granulomas
D055111||Failed Back Surgery Syndrome
D057772||Vascular System Injuries|Injuries, Vascular|Injuries, Vascular System|Injury, Vascular|Injury, Vascular System|System Injuries, Vascular|System Injury, Vascular|Vascular Injuries|Vascular Injury|Vascular System Injury
D055112||Pyometra|Pyometras
D055113||Chronic Periodontitis|Adult Periodontitides|Adult Periodontitis|Chronic Periodontitides|Periodontitides, Adult|Periodontitides, Chronic|Periodontitis, Adult|Periodontitis, Chronic
D057774||Post-Exercise Hypotension|Hypotension, Postexercise|Hypotension, Post Exercise|Hypotension, Post-Exercise|Hypotensions, Postexercise|Hypotensions, Post Exercise|Hypotensions, Post-Exercise|Postexercise Hypotension|Post Exercise Hypotension|Postexercise Hypotensions|Post Exercise Hypotensions|Post-Exercise Hypotensions
C537991|605589||Charcot-Marie-Tooth disease, Type 2B2|ARCMT2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2|Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2|Charcot-Marie-Tooth disease, axonal, Type 2B2|Charcot-Marie-Tooth disease, neuronal, Type 2B2|Charcot-Marie-Tooth Neuropathy, Type 2B2|CMT2B2|CMT 2B2
D020417||Nystagmus, Congenital|Congenital Nystagmus
C536631|609241||Schindler Disease, Type I|Alpha-Galactosidase B Deficiency|Alpha-Galnac Deficiency, Schindler Type|Alpha-N-Acetylgalactosaminidase Deficiency|Alpha-N-acetylgalactosaminidase deficiency adult onset|Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset|Alpha-N-acetylgalactosaminidase deficiency, type 1|Alpha-N-acetylgalactosaminidase deficiency type 2|Alpha-N-Acetylgalactosaminidase Deficiency, Type I|alpha-N-Acetylgalactosaminidase Deficiency, Type II|Alpha-N-Acetylgalactosaminidase Deficiency, Type III|Alpha-Naga Deficiency|Angiokeratoma Corporis Diffusum-Glycopeptiduria|Galb Deficiency|Kanzaki disease|Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum|Naga Deficiency|NAGA deficiency type 2|Naga Deficiency, Type I|NAGA DEFICIENCY, TYPE I ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED|NAGA Deficiency, Type II|NAGA Deficiency, Type III|NAGA DEFICIENCY, TYPE III, INCLUDED|Neuroaxonal dystrophy, Schindler type|Neuronal Axonal Dystrophy, Schindler Type|Schindler Disease|Schindler disease, type 1|Schindler disease, type 2|Schindler Disease, Type II|Schindler Disease, Type III|SCHINDLER DISEASE, TYPE III, INCLUDED
607765|C535442||Bile acid synthesis defect, congenital, 1|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency|3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of|CBAS1|Cholestasis, progressive familial intrahepatic 4|Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)|Progressive familial intrahepatic cholestasis 4
184840|C537494||Stickler syndrome, type 3|Stickler syndrome nonocular type|Stickler Syndrome, Nonocular Type|Stickler Syndrome, Type III|STL3
C564701|606528||Homozygous 11p15-p14 Deletion Syndrome|Hyperinsulinism, Infantile, with Enteropathy and Deafness
118800|C537181||Paroxysmal nonkinesigenic dyskinesia|Choreoathetosis familial paroxysmal|Choreoathetosis, Familial Paroxysmal|Choreoathetosis, Nonkinesigenic|Dystonia 8|DYT8|Familial paroxysmal choreoathetosis|Familial Paroxysmal Nonkinesigenic Dyskinesia|FPD1|Mount-Reback syndrome|Nonkinesigenic choreoathetosis|Paroxysmal dystonic choreoathetosis|Paroxysmal Nonkinesigenic Dyskinesia 1|PDC|PNKD1
D007446||Chromosome Inversion|Chromosomal Inversion|Chromosomal Inversions|Chromosome Inversions|Inversion, Chromosomal|Inversion, Chromosome|Inversions, Chromosomal|Inversions, Chromosome
D007443||Intussusception|Intestinal Invagination|Intestinal Invaginations|Intussusceptions|Intususception|Intususceptions|Invagination, Intestinal|Invaginations, Intestinal
C564643|606943||Usher Syndrome, Type IG|USH1G
C565217|610227||Seborrhea-Like Dermatitis with Psoriasiform Elements
166260||GNATHODIAPHYSEAL DYSPLASIA|GDD|GNATHODIAPHYSEAL SCLEROSIS|OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS
C564570|300194||Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis|ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS|AMME Complex|ATS-MR|CHROMOSOME Xq22.3 TELOMERIC DELETION SYNDROME
611064||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5|ASRT5
612390||PONTOCEREBELLAR HYPOPLASIA, TYPE 2C|PCH2C
C563671|610381||Cone-Rod Dystrophy 11|CORD11
C567679|613266||Waardenburg Syndrome, Type 4c|WAARDENBURG SYNDROME, TYPE IVC|WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C|Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc|WS4C
C564599|607259||Spastic Paraplegia 7, Autosomal Recessive|SPG7
D007418||Intestinal Pseudo-Obstruction|Chronic Idiopathic Intestinal Pseudo-Obstruction|Congenital Short Bowel Syndrome|Enteric Neuropathy|Idiopathic Intestinal Pseudo-Obstruction|Idiopathic Intestinal Pseudo-Obstructions|Ileus, Paralytic|Intestinal Pseudoobstruction|Intestinal Pseudo Obstruction|Intestinal Pseudo Obstruction, Idiopathic|Intestinal Pseudo-Obstruction, Idiopathic|Intestinal Pseudoobstructions|Intestinal Pseudo-Obstructions|Intestinal Pseudo-Obstructions, Idiopathic|Myopathies, Visceral|Myopathy, Visceral|Paralytic Ileus|Pseudointestinal Obstruction Syndrome|Pseudo-Obstruction, Idiopathic Intestinal|Pseudoobstruction, Intestinal|Pseudo Obstruction, Intestinal|Pseudo-Obstruction, Intestinal|Pseudo-Obstructions, Idiopathic Intestinal|Pseudoobstructions, Intestinal|Pseudo-Obstructions, Intestinal|Pseudoobstructive Syndrome|Visceral Myopathies|Visceral Myopathy
D044483||Intestinal Polyposis|Cronkhite-Canada Syndrome|Polyposis, Intestinal|Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
277610|C535776||Pierre Robin syndrome with fetal chondrodysplasia|Heterozygous Osmed|Heterozygous Otospondylomegaepiphyseal Dysplasia|PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA|Weissenbacher-Zweymuller syndrome|Weissenbacher-Zweym&#252;ller Syndrome|WZS
D004421|612067||Dystonia|Diurnal Dystonia|DYSTONIA 16|Dystonia, Diurnal|Dystonia, Limb|Dystonia, Muscle|Dystonia, Paroxysmal|DYT16|Limb Dystonia|Muscle Dystonia|Paroxysmal Dystonia
D007416||Intestinal Perforation|Intestinal Perforations|Perforation, Intestinal|Perforations, Intestinal
D007417||Intestinal Polyps|Intestinal Polyp|Polyp, Intestinal|Polyps, Intestinal
D007414||Intestinal Neoplasms|Cancer, Intestinal|Cancer, Intestines|Cancer of Intestines|Cancer of the Intestines|Cancers, Intestinal|Cancers, Intestines|Intestinal Cancer|Intestinal Cancers|Intestinal Neoplasm|Intestines Cancer|Intestines Cancers|Intestines Neoplasm|Intestines Neoplasms|Neoplasm, Intestinal|Neoplasm, Intestines|Neoplasms, Intestinal|Neoplasms, Intestines
D007415||Intestinal Obstruction|Intestinal Obstructions|Obstruction, Intestinal
D007412||Intestinal Fistula|Cholecystoduodenal Fistula|Colovesical Fistula|Enterocutaneous Fistula|Fistula, Cholecystoduodenal|Fistula, Colovesical|Fistula, Enterocutaneous|Fistula, Intestinal
C536480|236730||Urofacial syndrome|Facial Palsy, Partial, With Urinary Abnormalities|Hydronephrosis-Inverted Smile|Hydronephrosis with peculiar facial expression|Inverted smile and occult neuropathic bladder|Inverted Smile-Neurogenic Bladder|Ochoa syndrome|Partial facial palsy with urinary abnormalities|UFS|UFS1|Urofacial Ochoa&apos;s syndrome|UROFACIAL SYNDROME|UROFACIAL SYNDROME 1
D007410||Intestinal Diseases|Disease, Intestinal|Diseases, Intestinal|Intestinal Disease
D007411||Intestinal Diseases, Parasitic|Disease, Parasitic Intestinal|Diseases, Parasitic Intestinal|Intestinal Disease, Parasitic|Parasitic Intestinal Disease|Parasitic Intestinal Diseases
612389||PONTOCEREBELLAR HYPOPLASIA, TYPE 2B|PCH2B
D052536|257200||Niemann-Pick Disease, Type A|Cholesterol Lipidoses, Neuronal|Cholesterol Lipidosis, Neuronal|Classical Niemann Pick Disease|Classical Niemann-Pick Disease|Deficiencies, Sphingomyelinase|Deficiency, Sphingomyelinase|Lipidoses, Neuronal Cholesterol|Lipidoses, Sphingomyelin|Lipidoses, Sphingomyelin/Cholesterol|Lipidosis, Neuronal Cholesterol|Lipidosis, Sphingomyelin|Lipidosis, Sphingomyelin/Cholesterol|Neuronal Cholesterol Lipidoses|Neuronal Cholesterol Lipidosis|Niemann Pick Disease, Acute Neuronopathic Form|Niemann-Pick Disease, Acute Neuronopathic Form|Niemann Pick Disease, Acute Neurovisceral Form|Niemann-Pick Disease, Acute Neurovisceral Form|Niemann-Pick Disease, Classical|Niemann Pick Disease, Neuronopathic Type|Niemann-Pick Disease, Neuronopathic Type|Niemann Pick Disease, Type A|Niemann Pick&apos;s Disease Type A|Niemann-Pick&apos;s Disease Type A|Ophthalmoplegias, Supraoptic Vertical|Ophthalmoplegia, Supraoptic Vertical|Sphingomyelinase Deficiencies|Sphingomyelinase Deficiency|Sphingomyelinase Deficiency Disease|Sphingomyelinase Deficiency Diseases|SPHINGOMYELINASE DEFICIENCY NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED|Sphingomyelin/Cholesterol Lipidoses|Sphingomyelin/Cholesterol Lipidosis|Sphingomyelin Lipidoses|Sphingomyelin Lipidosis|Supraoptic Vertical Ophthalmoplegia|Supraoptic Vertical Ophthalmoplegias|Type A Niemann Pick Disease|Type A Niemann-Pick Disease|Vertical Ophthalmoplegias, Supraoptic|Vertical Ophthalmoplegia, Supraoptic
D057792||Mirizzi Syndrome|Mirizzi&apos;s Syndrome|Mirizzis Syndrome|Syndrome, Mirizzi|Syndrome, Mirizzi&apos;s
193300|D006623||von Hippel-Lindau Disease|Angiomatoses, Familial Cerebelloretinal|Angiomatoses, Familial Cerebello-Retinal|Angiomatosis, Familial Cerebelloretinal|Angiomatosis, Familial Cerebello-Retinal|Angiomatosis Retinae|Cerebelloretinal Angiomatoses, Familial|Cerebello-Retinal Angiomatoses, Familial|Cerebelloretinal Angiomatosis, Familial|Cerebello-Retinal Angiomatosis, Familial|Familial Cerebelloretinal Angiomatoses|Familial Cerebello-Retinal Angiomatoses|Familial Cerebelloretinal Angiomatosis|Familial Cerebello Retinal Angiomatosis|Familial Cerebello-Retinal Angiomatosis|Hippel Lindau Disease|Hippel-Lindau Disease|Lindau Disease|Lindau&apos;s Disease|Lindaus Disease|Lindau&apos;s Diseases|Retinae, Angiomatosis|Syndromes, VHL|Syndrome, VHL|Syndrome, von Hippel-Lindau|VHL|VHL Syndrome|VHL Syndromes|von Hippel Lindau Disease|von Hippel Lindau Syndrome|von Hippel-Lindau Syndrome|VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED
C537663|301845||Bazex-Dupre-Christol syndrome|BAZEX-DUPRE-CHRISTOL SYNDROME|Bazex syndrome|BDCS|BZX|Follicular atrophoderma and basal cell carcinomas|Follicular atrophoderma-basal cell carcinoma syndrome|Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome
C567854|612943||Retinitis Pigmentosa 42|RP42
607459|C537583||Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|SANDO|SCAE, INCLUDED|SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED
251200||MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE|MCPH1|PCC SYNDROME|PREMATURE CHROMOSOME CONDENSATION SYNDROME|PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION
278700|D014983||Xeroderma Pigmentosum|Kaposi Disease|Kaposi&apos;s Disease|Kaposis Disease|XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A|XERODERMA PIGMENTOSUM I|XP1|XPA|XP, GROUP A
D006100||Granuloma Inguinale|Donovanosis|Granuloma Venereum
D007431||Intraoperative Complications|Complication, Intraoperative|Complication, Peroperative|Complications, Intraoperative|Complications, Peroperative|Injuries, Surgical|Injury, Surgical|Intraoperative Complication|Peroperative Complication|Peroperative Complications|Surgical Injuries|Surgical Injury
612379||CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq|CDG1Q|CDGIq|CDG Iq|COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES
611046||MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2|MTBS2
611040||MICROPHTHALMIA, ISOLATED 5|MCOP5|MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN
C535716|601455||Neuropathy, hereditary motor and sensory, LOM type|Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d|Charcot-Marie-Tooth Disease, Type 4D|Charcot-Marie-Tooth Neuropathy, Type 4d|CMT4D|Hereditary motor and sensory neuropathy, LOM type|HMSN4D|HMSNL|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE
D043171||Chromosomal Instability|Chromosomal Instabilities|Chromosomal Stabilities|Chromosomal Stability|Chromosome Instabilities|Chromosome Instability|Chromosome Stabilities|Chromosome Stability|Instabilities, Chromosomal|Instabilities, Chromosome|Instability, Chromosomal|Instability, Chromosome|Stabilities, Chromosomal|Stabilities, Chromosome|Stability, Chromosomal|Stability, Chromosome
C564640|606966||Nephronophthisis 4|Nephronophthisis 4, Juvenile|NPHP4
C563884|608653||Deafness, Autosomal Recessive 32|DFNB32
D055154||Dysphonia|Dysphonia, Hyperkinetic|Dysphonia, Organic Tremor|Dysphonia, Spastic|Hyperkinetic Dysphonia|Neurologic Adducter Spastic Dysphonia|Organic Tremor Dysphonia|Phonation Disorder|Phonation Disorders|Spastic Dysphonia|Spastic Dysphonia, Neurologic Adducter
D056486||Drug-Induced Liver Injury|Acute Liver Injury, Drug Induced|Acute Liver Injury, Drug-Induced|Disease, Drug-Induced Liver|Diseases, Drug-Induced Liver|Drug Induced Acute Liver Injury|Drug-Induced Acute Liver Injury|Drug-Induced Hepatitides|Drug-Induced Hepatitis|Drug Induced Liver Disease|Drug-Induced Liver Disease|Drug-Induced Liver Diseases|Drug-Induced Liver Injuries|Drug Induced Liver Injury|Hepatitides, Drug-Induced|Hepatitides, Toxic|Hepatitis, Drug Induced|Hepatitis, Drug-Induced|Hepatitis, Toxic|Injuries, Drug-Induced Liver|Injury, Drug-Induced Liver|Liver Disease, Drug-Induced|Liver Diseases, Drug-Induced|Liver Injuries, Drug-Induced|Liver Injury, Drug Induced|Liver Injury, Drug-Induced|Liver Injury, Drug-Induced, Acute|Toxic Hepatitides|Toxic Hepatitis
D056487||Drug-Induced Liver Injury, Chronic|Chronic Drug Induced Liver Injury|Chronic Drug-Induced Liver Injury|Drug Induced Liver Injury, Chronic|Hepatitis, Chronic, Drug-Induced|Hepatitis, Chronic, Drug-Related|Liver Injury, Drug-Induced, Chronic
C538064|305620||Frontometaphyseal dysplasia|FMD
D007409||Intestinal Atresia|Apple Peel Intestinal Atresia|Apple-Peel Intestinal Atresia|Apple-Peel Intestinal Atresias|Apple Peel Small Bowel Syndrome|Apple Peel Syndrome|Apple Peel Syndromes|Atresia, Apple-Peel Intestinal|Atresia, Congenital Intestinal|Atresia, Intestinal|Atresia, Jejunal|Atresias, Apple-Peel Intestinal|Atresias, Congenital Intestinal|Congenital Intestinal Atresia|Congenital Intestinal Atresias|Familial Apple Peel Jejunal Atresia|Intestinal Atresia, Apple-Peel|Intestinal Atresia, Congenital|Intestinal Atresias, Apple-Peel|Intestinal Atresias, Congenital|Jejunal Atresia
D043183||Irritable Bowel Syndrome|Colitides, Mucous|Colitis, Mucous|Colon, Irritable|Irritable Bowel Syndromes|Irritable Colon|Mucous Colitides|Mucous Colitis|Syndrome, Irritable Bowel|Syndromes, Irritable Bowel
D007405||Intervertebral Disc Displacement|Disc Displacement, Intervertebral|Disc Displacements, Intervertebral|Disc, Herniated|Disc, Prolapsed|Discs, Herniated|Disc, Slipped|Discs, Prolapsed|Discs, Slipped|Disk Displacement, Intervertebral|Disk Displacements, Intervertebral|Disk, Herniated|Disk Prolapse|Disk, Prolapsed|Disk Prolapses|Disks, Herniated|Disk, Slipped|Disks, Prolapsed|Disks, Slipped|Displacement, Intervertebral Disc|Displacement, Intervertebral Disk|Displacements, Intervertebral Disc|Displacements, Intervertebral Disk|Herniated Disc|Herniated Discs|Herniated Disk|Herniated Disks|Intervertebral Disc Displacements|Intervertebral Disk Displacement|Intervertebral Disk Displacements|Prolapsed Disc|Prolapsed Discs|Prolapsed Disk|Prolapsed Disks|Prolapse, Disk|Prolapses, Disk|Slipped Disc|Slipped Discs|Slipped Disk|Slipped Disks
C566021|613254||Tuberous Sclerosis 2|TSC2|TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED
D007402||Intertrigo
C564299|608036||Diabetes Mellitus, Noninsulin-Dependent, Type 4|DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4|NIDDM4|Noninsulin-Dependent Diabetes Mellitus 4
C565375|252011||Mitochondrial Complex II Deficiency|Succinate CoQ Reductase Deficiency
C565698|610220||Deafness, Autosomal Recessive 59|DFNB59
C536316|609796||Peeling skin syndrome, acral type|Acral peeling skin syndrome|APSS|PEELING SKIN SYNDROME, TYPE A
C537979|613108||Candidiasis familial chronic mucocutaneous, autosomal recessive|CANDF2|CANDF4|Candidiasis, Familial, 2|CANDIDIASIS, FAMILIAL, 4|Candidiasis, Familial Chronic Mucocutaneous|Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive|Candidiasis, Familial, Type 4|Familial chronic mucocutaneous candidiasis
C562573||Cyclopia
D008708||Methemoglobinemia|Methemoglobinemias
C562577||Cirrhosis, Cryptogenic
C563421|600965||Deafness, Autosomal Dominant 6|Deafness, Autosomal Dominant 14|Deafness, Autosomal Dominant 38|DFNA14|DFNA38|DFNA6
C562574||Visceral Myopathy, Familial
C536294|608091||Joubert syndrome 2|Cerebellooculorenal syndrome 2|CORS2|JBTS2
194050|D018980||Williams Syndrome|Aortic Stenoses, Hypercalcemia-Supravalvar|Aortic Stenosis, Hypercalcemia-Supravalvar|Beuren Syndrome|Chromosome 7q11.23 Deletion Syndrome|CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB|Contiguous Gene Syndrome, Williams|Hypercalcemia-Supravalvar Aortic Stenoses|Hypercalcemia Supravalvar Aortic Stenosis|Hypercalcemia-Supravalvar Aortic Stenosis|Stenoses, Hypercalcemia-Supravalvar Aortic|Stenosis, Hypercalcemia-Supravalvar Aortic|Supravalvar Aortic Stenosis Syndrome|Syndrome, Beuren|Syndrome, Williams|Syndrome, Williams-Beuren|WBS|Williams Beuren Syndrome|Williams-Beuren Syndrome|Williams Contiguous Gene Syndrome|WILLIAMS SYNDROME|WMS|WS
C567327|612380||Inflammatory Bowel Disease 22|IBD22
D040921||Stress Disorders, Traumatic|Stress Disorder, Traumatic|Traumatic Stress Disorder|Traumatic Stress Disorders
C566881|267450||Respiratory Distress Syndrome In Premature Infants|HYALINE MEMBRANE DISEASE, FORMERLY|RDS Of Prematurity
C567817|613007||Biliary Cirrhosis, Primary, 2|PBC2
D005764|109350||Gastroesophageal Reflux|Acid Reflux, Gastric|Esophageal Reflux|Gastric Acid Reflux|Gastric Acid Reflux Disease|Gastro Esophageal Reflux|Gastro-Esophageal Reflux|Gastroesophageal Reflux Disease|GASTROESOPHAGEAL REFLUX, PEDIATRIC|Gastro oesophageal Reflux|Gastro-oesophageal Reflux|GER|GERD|Reflux, Gastric Acid|Reflux, Gastroesophageal|Reflux, Gastro-Esophageal|Reflux, Gastro-oesophageal
C562580||Cirrhosis, Familial, with Pulmonary Hypertension|Indian Childhood Cirrhosis
142690|C538118||Hidradenitis suppurativa, familial|Acne inversa, familial|ACNE INVERSA, FAMILIAL, 1|ACNE INVERSA, FAMILIAL, 2|ACNE INVERSA, FAMILIAL, 3|ACNINV1|ACNINV2|ACNINV3|HIDRADENITIS SUPPURATIVA, FAMILIAL
C562581||Hypercalcemia, Idiopathic, of Infancy
D055191||Delayed Emergence from Anesthesia|Awakening, Post-Anesthesia Delayed|Awakenings, Post-Anesthesia Delayed|Delayed Awakening from Anesthesia|Delayed Awakening, Post Anesthesia|Delayed Awakening, Post-Anesthesia|Delayed Awakening, Post Procedural|Delayed Awakening, Post-Procedural|Delayed Awakenings, Post-Anesthesia|Delayed Awakenings, Post-Procedural|Delayed Recovery from Anesthesia|Delayed Regaining of Consciousness|Delayed Return of Consciousness|Post-Anesthesia Delayed Awakening|Post-Anesthesia Delayed Awakenings|Post-Procedural Delayed Awakening|Post-Procedural Delayed Awakenings
C562589||Orotic Aciduria II|OMP Decarboxylase Deficiency|Orotidylic Decarboxylase Deficiency
C535581|605676||Cardiomyopathy dilated with Woolly hair and keratoderma|Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma|Carvajal syndrome|DCWHK|Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy|Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
C565449|245340||Erythrocyte Lactate Transporter Defect|Lactate Transporter Defect, Myopathy due to
C536051|259600||Osteolysis hereditary multicentric|Al-Aqeel Sewairi Syndrome|Hereditary multicentric osteolysis|MONA|Multicentric Osteolysis, Nodulosis, and Arthropathy|NAO SYNDROME|Nodulosis-Arthropathy-Osteolysis Syndrome|Osteolysis, Hereditary Multicentric|Torg osteolysis syndrome|Torg Syndrome|Torg-Winchester Syndrome|TORG-WINCHESTER SYNDROME, FORMERLY
C565057|130700||Emphysema, Hereditary Pulmonary
606579||VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1|SLEV1|SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED|VAMAS1|VITILIGO|VTLG
D029242|308905||Optic Atrophy, Hereditary, Leber|Disease, Leber&apos;s|Diseases, Leber&apos;s|Hereditary Optic Neuroretinopathies|Hereditary Optic Neuroretinopathy|Leber Disease|Leber Hereditary Optic Atrophy|Leber Hereditary Optic Neuropathy|LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF|Leber Optic Atrophy|Leber Optic Atrophy and Dystonia|LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO|Leber Optic Neuropathy|Leber&apos;s Disease|Lebers Disease|Leber&apos;s Diseases|Leber&apos;s Hereditary Optic Atrophy|Leber&apos;s Hereditary Optic Neuropathy|Leber&apos;s Optic Atrophy|Leber&apos;s Optic Neuropathy|Lebers Optic Neuropathy|LHON|LHON, MODIFIER OF|LOAS|Neuropathy, Leber&apos;s Optic|Neuroretinopathies, Hereditary Optic|Neuroretinopathy, Hereditary Optic|Optic Atrophy, Leber|Optic Atrophy, Leber, Hereditary|Optic Atrophy, Leber Type|Optic Neuropathy, Leber&apos;s|Optic Neuroretinopathies, Hereditary|Optic Neuroretinopathy, Hereditary
C536263||Radial ray hypoplasia choanal atresia|Radial Ray Hypoplasia with Choanal Atresia
C537594||Shapiro syndrome|Shapiro&apos;s syndrome
C536264||Radiation induced angiosarcoma of the breast|Post-irradiation angiosarcoma of the breast
C537595||Sharma Kapoor Ramji syndrome
C535601|300018||Dosage-sensitive sex reversal|46,XY SEX REVERSAL 2|46,XY SEX REVERSAL, DAX1-RELATED|DOSAGE-SENSITIVE SEX REVERSAL|DSS|SRXY2
C563880||Robin Sequence with Distinctive Facial Appearance and Brachydactyly
C536261||Radial defect Robin sequence|Bilateral radial defects, club foot deformity, micrognathia and cleft palate|Bruce winship syndrome
C565079|127550||Dyskeratosis Congenita, Autosomal Dominant|DKCA1|DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1|Dyskeratosis Congenita, Scoggins Type
C536262||Radial hypoplasia, triphalangeal thumbs and hypospadias|Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema|Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema|Schmitt Gillenwater Kelly syndrome
C537593||Severe infantile axonal neuropathy
C536267||Radio renal syndrome|Radio-renal syndrome
D013282||Stomatitis, Denture|Denture Stomatitides|Denture Stomatitis|Stomatitides, Denture
C537598||Short limb dwarfism Al Gazali type|Lethal neonatal short limb dwarfism|Lethal short-limb skeletal dysplasia, Al Gazali type
C536268||Radio-ulnar synostosis type 1|Congenital radio-ulnar synostosis
D013283||Stomatitis, Herpetic|Gingivostomatitides, Herpetic|Gingivostomatitis, Herpetic|Herpes Simplex, Oral|Herpetic Gingivostomatitides|Herpetic Gingivostomatitis|Herpetic Stomatitides|Herpetic Stomatitis|Oral Herpes Simplex|Simplex, Oral Herpes|Stomatitides, Herpetic
C537599||Short rib-polydactyly syndrome, Beemer type|Beemer Langer syndrome|Beemer-Langer Syndrome|Short rib-polydactyly syndrome, type 4|Short Rib-Polydactyly Syndrome, Type IV|Short Rib Syndrome, Beemer Type|SRPS IV|SRPS, type 4
C536265||Radiation induced brachial plexopathy|Radiation induced brachial neuritis|Radiation injury to the brachial plexus
D013280||Stomatitis|Mucositides, Oral|Mucositis, Oral|Oral Mucositides|Oral Mucositis|Oromucositides|Oromucositis|Stomatitides
D013281||Stomatitis, Aphthous|Aphthae|Aphthous Stomatitides|Aphthous Stomatitis|Aphthous Ulcer|Aphthous Ulcers|Canker Sore|Canker Sores|Periadenitis Mucosa Necrotica Recurrens|Sore, Canker|Sores, Canker|Stomatitides, Aphthous|Ulcer, Aphthous|Ulcers, Aphthous
C537597||Short limb dwarf lethal Colavita Kozlowski type|Colavita Kozlowski syndrome
C562559||Prognathism, Mandibular|Habsburg Jaw|Hapsburg Jaw
C562557||Polythelia, Familial|Accessory Nipples|Nipples, Supernumerary|Polymastia
C537590||Severe combined immunodeficiency, atypical|SCID, atypical
C536260||Quebec platelet disorder|Factor V Quebec
D020190|254770||Myoclonic Epilepsy, Juvenile|Adolescent Myoclonic Epilepsies|Adolescent Myoclonic Epilepsy|ECA4, INCLUDED|EIG13|EIG7|EJM|EJM1, INCLUDED|EJM2, INCLUDED|EJM3|EJM4|EJM5,|EJM5, INCLUDED|Epilepsies, Adolescent Myoclonic|Epilepsies, Juvenile Myoclonic|Epilepsy, Adolescent Myoclonic|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4, INCLUDED|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7|Epilepsy, Juvenile Myoclonic|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5, INCLUDED|Epilepsy, Myoclonic Juvenile|Epilepsy, Myoclonic, Juvenile|Impulsive Petit Mal Epilepsy|Impulsive Petit Mal, Janz|Janz Impulsive Petit Mal|Janz Juvenile Myoclonic Epilepsy|Janz Syndrome|JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED|JME|JME (Juvenile Myoclonic Epilepsy)|JMEs (Juvenile Myoclonic Epilepsy)|Juvenile Myoclonic Epilepsies|Juvenile Myoclonic Epilepsy|Juvenile Myoclonic Epilepsy of Janz|Myoclonic Epilepsies, Adolescent|Myoclonic Epilepsies, Juvenile|Myoclonic Epilepsy, Adolescent|MYOCLONIC EPILEPSY, JUVENILE|Myoclonic Epilepsy, Juvenile, 1|MYOCLONIC EPILEPSY, JUVENILE, 2, INCLUDED|MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3|MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4|Petit Mal, Impulsive|Petit Mal, Impulsive, Janz|Petit Mals, Impulsive|Syndrome, Janz
C537928|609955||Fibromatosis, gingival, 3|Fibromatosis, gingival, hereditary, 3|GGF3|GINGF3|HGF3
D013275||Stomach Rupture|Gastric Rupture|Gastric Ruptures|Rupture, Gastric|Ruptures, Gastric|Ruptures, Stomach|Rupture, Stomach|Stomach Ruptures
D013276||Stomach Ulcer|Gastric Ulcer|Gastric Ulcers|Stomach Ulcers|Ulcer, Gastric|Ulcers, Gastric|Ulcers, Stomach|Ulcer, Stomach
D013273||Diverticulum, Stomach|Diverticula, Gastric|Diverticula, Stomach|Diverticulum, Gastric|Gastric Diverticula|Gastric Diverticulum|Stomach Diverticula|Stomach Diverticulum
C536259||Qazi Markouizos syndrome|Dysharmonic skeletal maturation muscular fibre disproportion|Puertorican infant hypotonia syndrome|Puerto Rican Infant Hypotonia Syndrome
C536196|130020||Ehlers-Danlos syndrome type 3|Benign hypermobility syndrome|EDS3|EDS III|Ehlers-Danlos Syndrome, Hypermobility Type|Ehlers-Danlos Syndrome, Type III
D013277||Stomach Volvulus|Gastric Volvulus|Volvulus, Gastric|Volvulus, Stomach
C562561||Pyloric Atresia
C536274||Ichthyosis, mental retardation, dwarfism, and renal impairment
C562562||Colonic Atresia
D013290||Streptococcal Infections|Infections, Streptococcal|Infection, Streptococcal|Streptococcal Infection
C536272||Ichthyosis tapered fingers midline groove up|Oral and digital anomalies with ichthyosis|Unusual facies, digital abnormalities, and ichthyosis
C536273||Ichthyosis with hypotrichosis, autosomal recessive|Autosomal recessive ichthyosis with hypotrichosis
C562565||Uterine Anomalies
C563896||Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
C563693|609886||Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
C562563||Microcolon
C536276||Idiopathic basal ganglia calcification, childhood onset|Basal Ganglia Calcification, Idiopathic, Childhood-Onset|Bilateral striopallidodentate calcinosis, childhood onset|Cerebral calcification, nonarteriosclerotic, childhood onset, idiopathic|Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Childhood-Onset|IBGC, childhood onset|Striopallidodentate Calcinosis, Bilateral, Childhood-Onset
C563665|610773||Mitochondrial Phosphate Carrier Deficiency|MPCD
C562564||Gallbladder, Agenesis Of
C535311|258501||Costeff optic atrophy syndrome|3-methylglutaconic aciduria, type III|Costeff syndrome|Iraqi Jewish optic atrophy plus|IRAQI-JEWISH &apos;OPTIC ATROPHY PLUS&apos;|MGA3|MGA, TYPE III|MGCA3|OPA3, Autosomal Recessive|Optic Atrophy 3, Autosomal Recessive|Optic atrophy, infantile, with chorea and spastic paraplegia|Optic atrophy plus syndrome
609033|C536343||Posterior column ataxia with retinitis pigmentosa|AXPC1|PCARP
C562568||Cerebellar Hypoplasia
C536270||Radioulnar synostosis retinal pigment abnormalities
D049913|219090||ACTH-Secreting Pituitary Adenoma|ACTH Producing Pituitary Adenoma|ACTH-Producing Pituitary Adenoma|ACTH-Producing Pituitary Adenomas|ACTH Secreting Pituitary Adenoma|ACTH-Secreting Pituitary Adenomas|Adenoma, Corticotroph|Adenomas, Corticotroph|Corticotroph Adenoma|Corticotroph Adenomas|Corticotropin-Secreting Adenoma, Pituitary|Corticotropin-Secreting Adenomas, Pituitary|CUSHING DISEASE, PITUITARY|Pituitary Adenoma, ACTH-Producing|Pituitary Adenoma, ACTH Secreting|Pituitary Adenoma, ACTH-Secreting|Pituitary Adenomas, ACTH-Producing|Pituitary Adenomas, ACTH-Secreting|Pituitary Corticotropin Secreting Adenoma|Pituitary Corticotropin-Secreting Adenoma|Pituitary Corticotropin-Secreting Adenomas
C566875|300055||Mental Retardation, X-Linked, Syndromic 13|MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM|MENTAL RETARDATION, X-LINKED 16|MENTAL RETARDATION, X-LINKED 79|MENTAL RETARDATION, X-LINKED, WITH SPASTICITY|MRX16|MRX79|MRXS13|PPMX
C536269||Radio-ulnar synostosis type 2
C565719|610143||Deafness, Autosomal Recessive 62|DFNB62
C562386|145500||Hypertension, Essential|EHT|HYPERTENSION, ESSENTIAL, BODY MASS-RELATED|HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8|HYT1|HYT2|HYT3|HYT4|HYT5|HYT6|HYT7|HYT8
C567355|612300||CD59 Deficiency|CD59 DEFICIENCY|HACD59|HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY
C536286||Immotile cilia syndrome, due to defective radial spokes|Ciliary Dyskinesia With Defective Radial Spokes|Cilia with defective radial spokes|Immotile Cilia Syndrome Due To Defective Radial Spokes
C536283||Idiopathic subglottic tracheal stenosis
C536284||Iida Kannari syndrome|Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features
D014592||Uterine Hemorrhage|Bleedings, Vaginal|Bleeding, Uterine|Bleeding, Vaginal|Hemorrhage, Uterine|Uterine Bleeding|Uterine Bleedings|Uterine Hemorrhages|Vaginal Bleeding|Vaginal Bleedings
D014591||Uterine Diseases|Disease, Endometrial|Diseases, Endometrial|Diseases, Uterine|Disease, Uterine|Endometrial Disease|Endometrial Diseases|Uterine Disease
C536287||Immotile cilia syndrome, due to excessively long cilia|Ciliary Dyskinesia With Excessively Long Cilia|Immotile Cilia Syndrome Due To Excessively Long Cilia
C536288||Thymic aplasia|Immune Defect Due To Absence Of Thymus|Nezelof syndrome
219100||CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA|ARCL1|ARCL1A|CUTIS LAXA, AUTOSOMAL RECESSIVE
D025242||Spondylarthropathies|Bechterew Syndrome|Marie Strumpell Spondylitis|Marie-Strumpell Spondylitis|Spondylarthropathy|Spondylitis, Marie-Strumpell|Spondyloarthropathies|Spondyloarthropathy|Syndrome, Bechterew
D025241||Spondylarthritis|Arthritis, Spinal|Spinal Arthritides|Spinal Arthritis|Spondylarthritides
C536281||Idiopathic pulmonary hemosiderosis|Alveolar hypoventilation syndrome|Hemosiderosis, pulmonary, with deficiency of gamma-a globulin|Pulmonary hemosiderosis
C536282||Pulmonary arterial hypertension|Familial primary pulmonary hypertension|Idiopathic pulmonary arterial hypertension|Idiopathic pulmonary hypertension|Pph1 With Hht|Primary pulmonary hypertension|Pulmonary Hypertension, Primary, 1|Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia|Pulmonary Hypertension, Primary, Dexfenfluramine-Associated|Pulmonary Hypertension, Primary, Fenfluramine-Associated
C566533|602499||Macrophthalmia, Colobomatous, with Microcornea|MACOM
C562538||Cerebrocostomandibular Syndrome|CCM Syndrome|Cerebrocostomandibular-Like Syndrome|Rib Gap Defects with Micrognathia
D001282||Atrial Flutter|Atrial Flutters|Auricular Flutter|Auricular Flutters|Flutter, Atrial|Flutter, Auricular|Flutters, Atrial|Flutters, Auricular
D001281||Atrial Fibrillation|Atrial Fibrillations|Auricular Fibrillation|Auricular Fibrillations|Familial Atrial Fibrillation|Fibrillation, Atrial|Fibrillation, Auricular|Fibrillations, Atrial|Fibrillations, Auricular
C535919|302800||Charcot-Marie-Tooth disease, X-linked, 1|CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1|Charcot-Marie-Tooth Neuropathy, X-Linked, 1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|CMT2, FORMERLY|CMTX|Cmtx1|CMTX 1|Hereditary motor and sensory neuropathy, X-linked|HMSN, X-linked
131100|D018761||Multiple Endocrine Neoplasia Type 1|ENDOCRINE ADENOMATOSIS, MULTIPLE|MEA 1|MEA I|MEN1|MEN 1|MEN I|Multiple Endocrine Neoplasia Type I|MULTIPLE ENDOCRINE NEOPLASIA, TYPE I|Multiple Endocrine Neoplasms Type 1|Neoplasia, Multiple Endocrine Type 1|Neoplasms, Multiple Endocrine Type 1|Neoplasms, Multiple Endocrine Type I|Wermer Syndrome|WERMER SYNDROME MEN1 SOMATIC MUTATIONS, INCLUDED
C562681|250850||Methionine Adenosyltransferase Deficiency|Hypermethioninemia, Isolated Persistent|MAT DEFICIENCY|MAT I/III DEFICIENCY
607876||EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2|ADCME|BAFME2|BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2|CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2|CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT|FAME2|FCMTE2
D014582||Urticaria Pigmentosa|Cutaneous Mastocytoses, Maculopapular|Cutaneous Mastocytosis, Maculopapular|Maculopapular Cutaneous Mastocytoses|Maculopapular Cutaneous Mastocytosis
C567930|613096||Spastic Paraplegia 36, Autosomal Dominant|Spg36
C563703|609535||Drug Metabolism, Poor, CYP2C19-Related|CLOPIDOGREL, POOR METABOLISM OF, INCLUDED|MEPHENYTOIN, POOR METABOLISM OF, INCLUDED|OPREMAZOLE, POOR METABOLISM OF, INCLUDED|PROGUANIL, POOR METABOLISM OF, INCLUDED
C563871||Microcephaly, Primary Autosomal Recessive, 5
C563870||Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia
D052958||Tarlov Cysts|Cyst, Perineural|Cyst, Perineurial|Cyst, Sacral Perineural|Cysts, Perineural|Cysts, Perineurial|Cysts, Sacral Perineural|Cysts, Sacral Tarlov|Cysts, Tarlov|Perineural Cyst|Perineural Cysts|Perineurial Cyst|Perineurial Cysts|Sacral Perineural Cyst|Sacral Perineural Cysts|Sacral Tarlov Cysts
C536297||Male sterility due to Y-chromosome deletions|Partial deletion of chromosome Y|Partial deletion of the long arm of the Y chromosome|Partial deletion of Y|Partial deletion of Y chromosome short arm|Y chromosome deletions|Y chromosome microdeletions|Y-chromosome microdeletions
C562543||German Syndrome
D013271||Gastric Dilatation|Dilatation, Gastric|Dilatation, Stomach|Dilation, Gastric|Dilation, Stomach|Gastric Dilation|Stomach Dilatation|Stomach Dilation
D013272||Stomach Diseases|Disease, Gastric|Diseases, Gastric|Diseases, Stomach|Disease, Stomach|Gastric Disease|Gastric Diseases|Stomach Disease
C536298||Partial lissencephaly|Focal agyria pachygyria|Incomplete lissencephaly
C563774|609218||Foveal Hypoplasia and Anterior Segment Dysgenesis|FHONDA|FOVEAL HYPOPLASIA 2|FOVEAL HYPOPLASIA, OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM|FOVEAL HYPOPLASIA WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS|FVH2
C536299||Partington Anderson syndrome|Partington-Anderson Syndrome
128101|C536698||Whispering dysphonia, hereditary|DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT|DYSTONIA MUSCULORUM DEFORMANS 4|DYT4|Hereditary whispering dysphonia|WHISPERING DYSPHONIA, HEREDITARY
C536743|300076||Woods Black Norbury syndrome|Immunoneurologic Disorder, X-Linked|Neonatal death immune deficiency|Woods-Black-Norbury Syndrome|X-linked immunoneurological disorder
D009765|601665||Obesity|LEANNESS, INCLUDED
C562548||Clavicle, Pseudarthrosis Of, Congenital
D001284||Atrophy|Atrophies
C563876||AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency|AICA Ribosuria due to ATIC Deficiency
C562546||Megalodactyly|Macrodactyly
C536292||Jorgenson Lenz syndrome|Blepharophimosis radioulnar synostosis|Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism
D049309||Acanthoma|Acanthoma, Clear Cell|Acanthoma, Degos|Acanthoma, Pilar Sheath|Acanthomas|Acanthomas, Clear Cell|Acanthomas, Pilar Sheath|Clear Cell Acanthoma|Clear Cell Acanthomas|Degos Acanthoma|Pilar Sheath Acanthoma|Pilar Sheath Acanthomas
251290||BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA|BLCPMG|PSEUDO-TORCH SYNDROME
C563134|302500||Spinocerebellar Ataxia, X-Linked 1|Olivopontocerebellar Atrophy, X-Linked|OPCAX|OPCA, X-Linked|SCAX1
D064927||Tick Bites|Bites, Tick|Bite, Tick|Tick Bite
D014596||Uterine Prolapse|Prolapses, Uterine|Prolapses, Vaginal|Prolapse, Uterine|Prolapse, Vaginal|Uterine Prolapses|Vaginal Prolapse|Vaginal Prolapses
D014595||Uterine Perforation|Perforations, Uterine|Perforation, Uterine|Uterine Perforations
605201||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14|HDLCQ14
D014594||Uterine Neoplasms|Cancer of the Uterus|Cancer of Uterus|Cancers, Uterine|Cancers, Uterus|Cancer, Uterine|Cancer, Uterus|Neoplasms, Uterine|Neoplasms, Uterus|Neoplasm, Uterine|Neoplasm, Uterus|Uterine Cancer|Uterine Cancers|Uterine Neoplasm|Uterus Cancer|Uterus Cancers|Uterus Neoplasm|Uterus Neoplasms
D014593||Uterine Inertia|Atony, Uterine|Inertia, Uterine|Uterine Atony
C565121|124900||Deafness, Autosomal Dominant 1|Deafness, Progressive Low Tone|DFNA1|Hereditary Low Frequency Hearing Loss|Konigsmark Syndrome|LFHL1
D014597||Uterine Rupture|Ruptures, Uterine|Rupture, Uterine|Uterine Ruptures
D051516||Hemospermia|Hematospermia
C537671||Chromosome 1, monosomy 1q32 q42|Deletion 1q32 q42|Monosomy 1q32 q42
132850||EPSTEIN-BARR VIRUS INSERTION SITE 1;EBVS1 EPSTEIN-BARR VIRUS INTEGRATION SITE
C536341||Porphyria, Chester type
C537672||Chromosome 1, monosomy 1q4|Deletion 1q4|Monosomy 1q4
C537670||Behrens Baumann Dust syndrome|Oculo-cerebral dysplasia
C563963||Fryns Macrocephaly|Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance
C536344||Vertebral fusion posterior lumbosacral blepharoptosis|Congenital ptosis and posterior fusion of lumbosacral vertebrae|Familial posterior lumbosacral vertebral fusion and eyelid ptosis|Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
C537675||Gaucher-like disease|Pseudo Gaucher disease
C537676||Gay Feinmesser Cohen syndrome|Laryngeal web, congenital heart disease and low stature|Subglottic bar, congenital heart disease and low stature
C536342||Posterior column ataxia|Biemond ataxia
C565062|129900||Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1|EEC|EEC1|EEC Syndrome 1
C563966||Pick Complex
C563965||Peroxisome Biogenesis Disorder, Complementation Group J
C536488|602097||Usher syndrome, type 1E|USH1E|USHER SYNDROME, TYPE IE
C563964||Peroxisome Biogenesis Disorder, Complementation Group 14
613610||CRANIOECTODERMAL DYSPLASIA 2|CED2
C563969||Aplasia Cutis Congenita with Epibulbar Dermoids|Oculoectodermal Syndrome
613611||CHOANAL ATRESIA AND LYMPHEDEMA
604278|C567038||Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation|Rta, Proximal, Autosomal Recessive
613612||CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi|CDG2I|CDGIIi|CDG IIi
C537419|605039||Bohring syndrome|Bohring-Opitz syndrome|BOHRING SYNDROME|BOPS|C-LIKE SYNDROME|Opitz trigonocephaly-like syndrome
D014689||Venous Insufficiency|Insufficiencies, Venous|Insufficiency, Venous|Venous Insufficiencies
C537682|190100||Geniospasm|Geniospasm 1|GSM1|Hereditary geniospasm|Trembling chin
613606||FORSYTHE-WAKELING SYNDROME|FWS|MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA
D026681||Vitamin B 6 Deficiency|B6 Deficiencies, Vitamin|B6 Deficiency, Vitamin|B6 Vitamin Deficiencies|B6 Vitamin Deficiency|Deficiencies, B6 Vitamin|Deficiencies, Vitamin B6|Deficiency, B6 Vitamin|Deficiency, Pyridoxine|Deficiency, Vitamin B6|Deficiency, Vitamin B 6|Pyridoxine Deficiency|Vitamin B6 Deficiencies|Vitamin B6 Deficiency|Vitamin Deficiencies, B6|Vitamin Deficiency, B6
C565757|610926||Tooth Agenesis, Selective, 5|He-Zhao Deficiency|Hypodontia/Oligodontia 5|STHAG5
D013352||Subcutaneous Emphysema|Emphysemas, Subcutaneous|Emphysema, Subcutaneous|Subcutaneous Emphysemas
C537668||Beemer Ertbruggen syndrome|Beemer lethal malformation syndrome
C536161|148600||Keratosis palmoplantaris papulosa|Buschke Fischer Brauer syndrome|Keratoderma, palmoplantar punctate type 1|Keratoderma, Palmoplantar, Punctate Type I|Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|KERATOSIS PALMOPLANTARIS PAPULOSA|KPPP1|PALMOPLANTAR KERATODERMA, PUNCTATE TYPE I|PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA|PPKP1|PPKP1A|Type I punctate palmoplantar keratoderma
D013353||Subdural Effusion|Cerebrospinal Fluid Effusion, Subdural|Cerebrospinal Fluid Leakage, Subdural|Effusion, Subdural|Hygroma, Subdural|Subdural Cerebrospinal Fluid Effusion|Subdural Cerebrospinal Fluid Leakage|Subdural Hygroma
C537669||Behr syndrome|Optic atrophy, infantile hereditary, Behr complicated form of|Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities
D058494|236670||Walker-Warburg Syndrome|alpha Dystroglycanopathies|alpha-Dystroglycanopathies|Cerebromuscular Dystrophy, Fukuyama Type|Cerebroocular Dysplasia Muscular Dystrophy Syndrome|Cerebroocular Dysplasia-Muscular Dystrophy Syndrome|Chemke Syndrome|CMD, Fukuyama|COD MD Syndrome|COD-MD Syndrome|COD-MD Syndromes|Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1|Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1|Disease, POMT1-Related Muscle-Eye-Brain|Diseases, POMT1-Related Muscle-Eye-Brain|Dystrophy, Fukuyama Muscular|Fukuyama CMD|Fukuyama Congenital Muscular Dystrophy|Fukuyama Muscular Dystrophy|Fukuyama Syndrome|Fukuyama Type Congenital Muscular Dystrophy|HARD Syndrome|HARD Syndromes|Hydrocephalus, Agyria, And Retinal Dysplasia|LGMD2K|MDDGA1|MDDGA3|MEB (Muscle-Eye-Brain) Syndrome|Micropolygyria with Muscular Dystrophy|Muscle Eye Brain Disease|Muscle-Eye-Brain Disease|Muscle Eye Brain Disease, POMT1 Related|Muscle-Eye-Brain Disease, POMT1-Related|Muscle-Eye-Brain Diseases|Muscle-Eye-Brain Diseases, POMT1-Related|Muscular Dystrophy, Congenital, Fukuyama Type|Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1|Muscular Dystrophy, Fukuyama|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation|Muscular Dystrophy, Limb-Girdle, Type 2K|Pagon Syndrome|Pagon Syndromes|Polymicrogyria with Muscular Dystrophy|POMT1-Related Muscle-Eye-Brain Disease|POMT1-Related Muscle-Eye-Brain Diseases|Syndrome, Chemke|Syndrome, COD-MD|Syndrome, Fukuyama|Syndrome, HARD|Syndrome, Pagon|Syndromes, COD-MD|Syndromes, HARD|Syndromes, Pagon|Syndrome, Walker-Warburg|Syndrome, Warburg|Walker Warburg Syndrome|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED|Warburg Syndrome
C537666||Becker and Duchenne dystrophies
271700||SPONDYLOPERIPHERAL DYSPLASIA|SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA
C536336||Porencephaly cerebellar hypoplasia malformations|Porencephaly, cerebellar hypoplasia, and internal malformations
C537667||Bednar&apos;s tumor|Pigmented dermatofibrosarcoma protuberans
D014681||Velopharyngeal Insufficiency|Inadequate Velopharyngeal Closure|Incompetence, Palatopharyngeal|Incompetence, Velopharyngeal|Insufficiency, Velopharyngeal|Palatopharyngeal Incompetence|Velopharyngeal Closures, Inadequate|Velopharyngeal Incompetence
D013354||Empyema, Subdural|Abscess, Intracranial, Subdural|Subdural Empyema|Subdural Empyemas
D014685||Venereal Tumors, Veterinary|Transmissible Venereal Tumor|Transmissible Venereal Tumors|Tumors, Transmissible Venereal|Tumors, Veterinary Venereal|Tumor, Transmissible Venereal|Tumor, Veterinary Venereal|Venereal Tumors, Transmissible|Venereal Tumor, Transmissible|Venereal Tumor, Veterinary|Veterinary Venereal Tumor|Veterinary Venereal Tumors
D051527||Odontogenic Tumor, Squamous|Odontogenic Tumors, Squamous|Squamous Odontogenic Tumor|Squamous Odontogenic Tumors|Tumor, Squamous Odontogenic|Tumors, Squamous Odontogenic
D052858||Cystocele|Fallen Urinary Bladder|Prolapse, Urinary Bladder|Urinary Bladder Prolapse
C537683||Genito palato cardiac syndrome|Gardner-Silengo-Wachtel syndrome|Genito-palato-cardiac syndrome|Genitopalatocardiac syndrome|Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect
C537680||Genee-Wiedemann syndrome|Genee-Wiedemann acrofacial dysostosis|Miller syndrome|POADS syndrome|Postaxial Acrofacial Dysostosis|Postaxial Acrofacial Dysostosis (POADS)|Postaxial acrofacial dysostosis (POADS) syndrome|Wildervanck-Smith syndrome
C536350||Visceral myopathy familial external ophthalmoplegia|Intestinal pseudoobstruction with external ophthalmoplegia|Muscular dystrophy, oculogastrointestinal|Visceral Myopathy, Familial, With External Ophthalmoplegia
C563974||Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
C562642||Amyloidosis, Primary Cutaneous|Primary Localized Cutaneous Amyloidosis
C563973||Hydrocephalus, Autosomal Dominant
C536356||Anemia, hereditary spherocytic hemolytic|Acholuric jaundice|Chronic acholuric jaundice|Congenital hemolytic jaundice|Debrie&apos;s familial haemolytic disease|Minkowski-Chauffard disease|Minkowski-Chauffard-G&#228;nsslen syndrome|Minkowski-Chauffard haemolytic jaundice
C563972||Colorectal Cancer, Hereditary Nonpolyposis, Type 3|HNPCC3
C537684||Genoa syndrome|Camera Lituania Cohen syndrome|Holoprosencephaly craniosynostosis|Holoprosencephaly, Semilobar, With Craniosynostosis|Semilobar holoprosencephaly and primary craniosynostosis
C563971||Colorectal Cancer, Hereditary Nonpolyposis, Type 4|HNPCC4
C536354||Vocal cord dysfunction familial|Familial vocal cord dysfunction|Gerhardt syndrome|Laryngeal abductor paralysis|Plott syndrome|Vocal Cord Dysfunction, Familial
C537685||Genu valgum, st Helena familial|Genu valgum, hereditary pubertal|Genu Valgum, St. Helena Familial|Hereditary pubertal genu valgum|St. Helena familial genu valgum
C563978||Ichthyosis Exfoliativa
D000052||Acanthosis Nigricans|Acanthosis Nigrican|Nigrican, Acanthosis|Nigricans, Acanthosis
C562644||Amyloidosis, Cutaneous Bullous
D000051||Acantholysis|Acantholyses
C562645||Acid Phosphatase Deficiency
D013369||Subphrenic Abscess|Abscesses, Subdiaphragmatic|Abscesses, Subphrenic|Abscess, Subdiaphragmatic|Abscess, Subphrenic|Subdiaphragmatic Abscess|Subdiaphragmatic Abscesses|Subphrenic Abscesses
115210|C566168||Cardiomyopathy, Familial Restrictive, 1|RCM|RCM1
105120|C537459||Meretoja syndrome|Amyloid cranial neuropathy with lattice corneal dystrophy|Amyloidosis 5|Amyloidosis due to mutant gelsolin|AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED, INCLUDED|Amyloidosis, Finnish Type|Amyloidosis, Meretoja Type|Amyloidosis V|Cerebral Amyloid Angiopathy, Gsn-Related|Corneal Dystrophy, Lattice Type II|CORNEAL DYSTROPHY, LATTICE TYPE II, INCLUDED|Familial Amyloidosis, Finnish Type|Familial Amyloid Polyneuropathy Type Iv|Finnish type amyloidosis|Gelsolin-Related Amyloidosis|Kymenlaakso Syndrome|Lattice corneal dystrophy associated with familial systemic amyloidosis|Lattice Corneal Dystrophy, Gelsolin Type|Lattice Corneal Dystrophy Type Ii|Lattice Corneal Dystrophy, Type II|LATTICE CORNEAL DYSTROPHY, TYPE II, INCLUDED|Lattice dystrophy of the cornea with hereditary generalized amyloidosis|LCD2, INCLUDED|Meretoja&apos;s syndrome|Meretoja type amyloidosis
C563408|601001||Epidermolysis Bullosa Simplex, Autosomal Recessive|EBSB1|EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
C536348||Vibrio vulnificus infection
C537679||GEMSS syndrome|Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome
D013364||Submandibular Gland Diseases|Diseases, Submandibular Gland|Disease, Submandibular Gland|Gland Diseases, Submandibular|Gland Disease, Submandibular|Submandibular Gland Disease
C536349||Viljoen Kallis Voges syndrome
D014694||Ventricular Outflow Obstruction|Left Ventricular Outflow Obstruction|Obstructions, Ventricular Outflow|Obstruction, Ventricular Outflow|Outflow Obstruction, Left Ventricular|Outflow Obstruction, Right Ventricular|Outflow Obstructions, Ventricular|Outflow Obstruction, Ventricular|Right Ventricular Outflow Obstruction|Ventricular Outflow Obstruction, Left|Ventricular Outflow Obstruction, Right|Ventricular Outflow Obstructions
D038642||Shaken Baby Syndrome
C536346||Vestibulocochlear Dysfunction, Progressive|Familial progressive vestibulo-cochlear dysfunction|Familial progressive vestibulocochlear dysfunction|Vestibulocochlear dysfunction progressive familial
D012030||Refractive Errors|Ametropia|Ametropias|Disorder, Refractive|Disorders, Refractive|Error, Refractive|Errors, Refractive|Refractive Disorder|Refractive Disorders|Refractive Error
D014693||Ventricular Fibrillation|Fibrillations, Ventricular|Fibrillation, Ventricular|Ventricular Fibrillations
C565703|610202||Cataract, Pulverulent, Juvenile-Onset|CATARACT 21, MULTIPLE TYPES|CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|Cataract, Congenital, Cerulean Type, 4|CATARACT, PULVERULENT, JUVENILE-ONSET|CCA4|CTRCT21
D013362||Sublingual Gland Neoplasms|Gland Neoplasms, Sublingual|Gland Neoplasm, Sublingual|Neoplasms, Sublingual Gland|Neoplasm, Sublingual Gland|Sublingual Gland Neoplasm
C536347||Vibratory angioedema|Angioedema, vibratory
C537678||Gemignani syndrome|Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis
D013365||Submandibular Gland Neoplasms|Gland Neoplasms, Submandibular|Gland Neoplasm, Submandibular|Neoplasms, Submandibular Gland|Neoplasm, Submandibular Gland|Submandibular Gland Neoplasm
C536362||Angiofollicular ganglionic hyperplasia
C537694||Jung Wolff Back Stahl syndrome|Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
D000027||Abortion, Incomplete|Abortions, Incomplete|Incomplete Abortion|Incomplete Abortions
D001357||Sarcoma, Avian|Avian Sarcoma|Avian Sarcomas|Rous Sarcoma|Sarcoma, Rous|Sarcomas, Avian
D000026||Abortion, Habitual|Abortion, Recurrent|Abortions, Habitual|Abortions, Recurrent|Habitual Abortion|Habitual Abortions|Miscarriage, Recurrent|Miscarriages, Recurrent|Recurrent Abortion|Recurrent Abortions|Recurrent Miscarriage|Recurrent Miscarriages
C536361||Angel shaped phalangoepiphyseal dysplasia|Angel-shaped phalango-epiphyseal dysplasia|Angel-Shaped Phalangoepiphyseal Dysplasia
C537692||Judge Misch Wright syndrome|Dry skin, photophobia hyperkeratosis, abnormal fingernails|Keratodermia palmoplantar periorificial|Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia
C563941||Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
C563940||Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
C536367||Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
C536364||Angioma hereditary neurocutaneous|Angioma, Hereditary Neurocutaneous|Hereditary neurocutaneous Angioma
C536365||Angioma serpiginosum, autosomal dominant|Autosomal dominant angioma serpiginosum
C537696||Juvenile gout|Familial Gout-Kidney Disease|Familial Gouty Nephropathy|Familial Juvenile Hyperuricemic Nephropathy|Gouty nephropathy, familial juvenile|Hyperuricemic Nephropathy, Familial Juvenile|Hyperuricemic Nephropathy, Familial Juvenile 1|Mckd2|Medullary Cystic Kidney Disease Type 2|Nephropathy, familial, with gout|Umod-Related Kidney Disease|Uromodulin-Associated Kidney Disease|Uromodulin Storage Disease
C563942||Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV
C536016|600972||Achondrogenesis type 1B|ACG1B|Achondrogenesis, Fraccaro type|Achondrogenesis, Type Ib|Fraccaro achondrogenesis
C563949||Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency
C563948||Spinal Muscular Atrophy, Type IV|Spinal Muscular Atrophy, Adult Form|Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
C564743|277410||Methylmalonic Aciduria and Homocystinuria, CblD Type|Homocystinuria, CblD Type, Variant 1|Methylmalonic Acidemia and Homocystinuria, CblD Type|METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED|METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY|Methylmalonic Aciduria, CblD Type, Variant 2|METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED|METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY
C537690||Juberg Hayward syndrome|Cleft Lip/Palate With Abnormal Thumbs And Microcephaly|Juberg-Hayward Syndrome|OFDS VIII|Oral-Facial-Digital Syndrome, Type VIII|Oral-Facial-Digital Syndrome with Hypoplastic Epiglottis|Orocraniodigital syndrome
C563947||Pachydermodactyly, Familial
607671|C564354||Dystonia 13, Torsion|DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT|DYT13
D001353||Avian Leukosis|Avian Leukoses|Leukoses, Avian|Leukosis, Avian
D000022||Abortion, Spontaneous|Abortions, Spontaneous|Abortions, Tubal|Abortion, Tubal|Miscarriage|Miscarriages|Spontaneous Abortion|Spontaneous Abortions|Tubal Abortion|Tubal Abortions
C536173|600231||Diffuse palmoplantar keratoderma, Bothnian type|Palmoplantar keratoderma, Bothnian type|PPKB
D012008||Recurrence|Recrudescence|Recrudescences|Recurrences|Relapse|Relapses
C536826|137950||Glomerulopathy with fibronectin deposits|Fibronectin glomerulopathy|GFND1|GFND2|Glomerular nephritis, familial, with fibronectin deposits|GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1|Glomerulopathy With Fibronectin Deposits 2|GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS|LOBULAR GLOMERULOPATHY, FAMILIAL
D016142|236100||Holoprosencephaly|Alobar Holoprosencephalies|Alobar Holoprosencephaly|Arhinencephalies|Arhinencephaly|ARHINENCEPHALY HOLOPROSENCEPHALY 1, INCLUDED|CYCLOPIA, INCLUDED|DEMYER SEQUENCE, INCLUDED|Holoprosencephalies|Holoprosencephalies, Alobar|Holoprosencephalies, Lobar|Holoprosencephalies, Semilobar|Holoprosencephaly, Alobar|Holoprosencephaly, Familial Alobar|Holoprosencephaly, Lobar|Holoprosencephaly, Semilobar|HPE1, INCLUDED|HPEC|HPE, FAMILIAL|Lobar Holoprosencephalies|Lobar Holoprosencephaly|Semilobar Holoprosencephalies|Semilobar Holoprosencephaly
D012005||Rectal Prolapse|Anus Prolapse|Anus Prolapses|Prolapse, Anus|Prolapse, Rectal|Prolapses, Anus|Prolapses, Rectal|Rectal Prolapses
D002690||Chlamydia Infections|Chlamydia Infection|Infection, Chlamydia|Infections, Chlamydia
D012006||Rectovaginal Fistula|Fistula, Rectovaginal|Fistulas, Rectovaginal|Rectovaginal Fistulas
252010|C537475||Mitochondrial complex I deficiency|Mitochondrial NADH dehydrogenase component of complex I, deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH coenzyme q reductase deficiency|NADH:Q(1) Oxidoreductase deficiency
C566908|611603||Lissencephaly 3|LIS3
D013330||Struma Ovarii
C536359||Anencephaly and spina bifida X-linked|X-linked anencephaly/spina bifida
C567087|611777||Brugada Syndrome 2|BRGDA2
C536357||Anemia, hypochromic microcytic
D012003||Rectal Fistula|Anal Fistula|Fistula, Rectal
D012004||Rectal Neoplasms|Cancer of Rectum|Cancer of the Rectum|Cancer, Rectal|Cancer, Rectum|Cancers, Rectal|Cancers, Rectum|Neoplasm, Rectal|Neoplasm, Rectum|Neoplasms, Rectal|Neoplasms, Rectum|Rectal Cancer|Rectal Cancers|Rectal Neoplasm|Rectal Tumor|Rectal Tumors|Rectum Cancer|Rectum Cancers|Rectum Neoplasm|Rectum Neoplasms|Tumor, Rectal|Tumors, Rectal
D012001||Hyperacusis|Auditory Hyperesthesia|Auditory Hyperesthesias|Disturbance, Loudness Perception|Disturbances, Loudness Perception|Hyperacuses|Hyperacusia|Hyperacusias|Hyperesthesia, Auditory|Hyperesthesias, Auditory|Loudness Perception Disturbance|Loudness Perception Disturbances|Loudness Recruitment|Loudness Recruitments|Perception Disturbance, Loudness|Perception Disturbances, Loudness|Phonophobia|Phonophobias|Recruitment, Loudness
D012002||Rectal Diseases|Disease, Rectal|Diseases, Rectal|Rectal Disease
D000039||Peritonsillar Abscess|Abscesses, Peritonsillar|Abscess, Peritonsillar|Peritonsillar Abscesses
D052878||Urolithiasis|Lithiasis, Urinary|Urinary Lithiasis
D000038||Abscess|Abscesses
C537486|605229||Spastic paraplegia 14, autosomal recessive|SPG14
D052879||Subacute Combined Degeneration|Neuropathy, Subacute Combined Degeneration|Subacute Combined Neuropathy Degeneration
D000037||Abruptio Placentae|Abruption, Placental|Abruptions, Placental|Placental Abruption|Placental Abruptions
C567194|612715||Dyschromatosis Universalis Hereditaria 2|DUH2
C563952||Succinic Acidemia
C563951||Parotid Salivary Glands, Polycystic Disease of
C536378||Anonychia onychodystrophy|Absent nails and dystrophic nails|Anonychia-Onychodystrophy
C563950||Band Heterotopia of Brain
245400||MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)|LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY|MTDPS9
C536375||Abnormal fusion of dental cementum with alveolar bone|Molar I reinclusion|Secondary retention of permanent molars
C566475|610444||Night Blindness, Congenital Stationary, Autosomal Dominant 3|CSNBAD3|Night Blindness, Congenital Stationary, Nougaret Type
D000031||Abortion, Septic|Abortions, Septic|Septic Abortion|Septic Abortions
C563954||Motor Neuron Disease with Dementia and Ophthalmoplegia
D001361||Avitaminosis|Avitaminoses|Deficiencies, Vitamin|Deficiency, Vitamin|Vitamin Deficiencies|Vitamin Deficiency
D000030||Abortion, Missed|Abortions, Missed|Missed Abortion|Missed Abortions
C535277|606763||Primary ciliary dyskinesia, 2|CILD2|Ciliary Dyskinesia, Primary, 2|CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS
C562628||Cutis Laxa, Autosomal Recessive, Type I|Cutis Laxa, Autosomal Recessive
C562629||Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa|Cutis Laxa, Emphysema, and Hemolytic Anemia
D000034||Abortion, Veterinary|Abortions, Veterinary|Veterinary Abortion|Veterinary Abortions
D000033||Abortion, Threatened|Abortions, Threatened|Threatened Abortion|Threatened Abortions
C562627||Cutis Laxa, Autosomal Dominant
D002694||Chlamydiaceae Infections|Chlamydiaceae Infection|Infection, Chlamydiaceae|Infections, Chlamydiaceae
D013349||Subclavian Steal Syndrome|Artery Stenoses, Subclavian|Artery Stenosis, Subclavian|Basilar Steal Syndrome|Basilar Steal Syndromes|Brachial Basilar Insufficiency Syndrome|Brachial-Basilar Insufficiency Syndrome|Brachial-Basilar Insufficiency Syndromes|Insufficiency Syndrome, Brachial-Basilar|Insufficiency Syndromes, Brachial-Basilar|Phenomenon, Subclavian Steal|Steal Phenomenon, Subclavian|Steal, Subclavian|Steal Syndrome, Basilar|Steal Syndromes, Basilar|Steal Syndromes, Subclavian|Steal Syndrome, Subclavian|Stenoses, Subclavian Artery|Stenosis, Subclavian Artery|Subclavian Artery Stenoses|Subclavian Artery Stenosis|Subclavian Carotid Artery Steal Syndrome|Subclavian-Carotid Artery Steal Syndrome|Subclavian Steal|Subclavian Steal Phenomenon|Subclavian Steal Syndromes|Syndrome, Brachial-Basilar Insufficiency|Syndromes, Brachial-Basilar Insufficiency
D012019||Reflex Sympathetic Dystrophy|Algodystrophic Syndrome|Algodystrophies|Algodystrophy|Atrophies, Sudek&apos;s|Atrophy, Sudek|Atrophy, Sudek&apos;s|Cervical Sympathetic Dystrophies|Cervical Sympathetic Dystrophy|Complex Regional Pain Syndrome, Type I|CPRS Type I|CPRS Type Is|Dystrophies, Cervical Sympathetic|Dystrophies, Reflex Sympathetic|Dystrophy, Cervical Sympathetic|Dystrophy, Reflex Sympathetic|I, CPRS Type|Is, CPRS Type|Pain Syndrome Type I, Complex Regional|Pain Syndrome Type I, Regional, Complex|Reflex Dystrophia, Sympathetic|Reflex Sympathetic Dystrophies|Reflex Sympathetic Dystrophy Syndrome|RSD (Reflex Sympathetic Dystrophy)|RSDs (Reflex Sympathetic Dystrophy)|Shoulder Hand Syndrome|Shoulder-Hand Syndrome|Shoulder-Hand Syndromes|Sudek Atrophy|Sudek&apos;s Atrophies|Sudek&apos;s Atrophy|Sudeks Atrophy|Sympathetic Dystrophies, Cervical|Sympathetic Dystrophies, Reflex|Sympathetic Dystrophy, Cervical|Sympathetic Dystrophy, Reflex|Sympathetic Reflex Dystrophia|Sympathetic Reflex Dystrophias|Syndrome, Algodystrophic|Syndrome, Reflex Sympathetic Dystrophy|Syndrome, Shoulder-Hand|Syndromes, Shoulder-Hand|Type I Complex Regional Pain Syndrome|Type I, CPRS|Type Is, CPRS
215700|D020159||Citrullinemia|Argininosuccinate Synthase Deficiency Disease|Argininosuccinate Synthetase Deficiencies|Argininosuccinate Synthetase Deficiency|Argininosuccinic Acid Synthase Deficiency Disease|Argininosuccinic Acid Synthetase Deficiency|Argininosuccinic Acid Synthetase Deficiency, Complete|Argininosuccinic Acid Synthetase Deficiency Disease|Argininosuccinic Acid Synthetase Deficiency Disease, Partial|ASS Deficiencies|ASS Deficiency|Citrullinemia 1|Citrullinemia, Classic|Citrullinemia, Classical|Citrullinemia, Late Onset|Citrullinemia, Late-Onset|Citrullinemia, Neonatal|Citrullinemias|Citrullinemias, Classic|Citrullinemias, Classical|Citrullinemias, Late-Onset|Citrullinemias, Neonatal|Citrullinemia Type 1|Citrullinemia, Type I|Citrullinuria|Citrullinurias|Classical Citrullinemia|Classical Citrullinemias|Classic Citrullinemia|Classic Citrullinemias|Complete Argininosuccinic Acid Synthetase Deficiency Disease|CTLN1|Deficiencies, Argininosuccinate Synthetase|Deficiencies, ASS|Deficiency, Argininosuccinate Synthetase|Deficiency, Argininosuccinic Acid Synthetase, Complete|Deficiency, Argininosuccinic Acid Synthetase, Partial|Deficiency, ASS|Deficiency Disease, Argininosuccinate Synthase|Deficiency Disease, Argininosuccinic Acid Synthase|Late-Onset Citrullinemia|Late-Onset Citrullinemias|Neonatal Citrullinemia|Neonatal Citrullinemias|Partial Argininosuccinic Acid Synthetase Deficiency Disease|Type 1, Citrullinemia
C562897|267300||Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness|Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness|Renal Tubular Acidosis with Progressive Nerve Deafness|RTA WITH PROGRESSIVE NERVE DEAFNESS
D012010||Red-Cell Aplasia, Pure|Aplasia, Erythrocyte|Aplasia, Pure Red-Cell|Aplasias, Erythrocyte|Aplasias, Pure Red-Cell|Erythrocyte Aplasia|Erythrocyte Aplasias|Pure Red Cell Aplasia|Pure Red-Cell Aplasia|Pure Red-Cell Aplasias|Red Cell Aplasia, Pure|Red-Cell Aplasias, Pure
C567877|612877||Cardiomyopathy, Dilated, 1BB|CMD1BB
C563212|608611||Ribose 5-Phosphate Isomerase Deficiency
D013342||Stuttering|Acquired Stuttering|Adult Stuttering|Childhood Stuttering|Developmental Stuttering|Stammering|Stuttering, Acquired|Stuttering, Adult|Stuttering, Childhood|Stuttering, Developmental|Stuttering, Familial Persistent 1
C536368||Angiosarcoma of the breast|Breast angiosarcoma
C536369||Angiostrongyliasis|Abdominal angiostrongyliasis|Intravitreal angiostrongyliasis
D013345||Subarachnoid Hemorrhage|Aneurysmal Subarachnoid Hemorrhage|Aneurysmal Subarachnoid Hemorrhages|Hemorrhage, Aneurysmal Subarachnoid|Hemorrhage, Intracranial Subarachnoid|Hemorrhage, Perinatal Subarachnoid|Hemorrhages, Aneurysmal Subarachnoid|Hemorrhages, Intracranial Subarachnoid|Hemorrhages, Perinatal Subarachnoid|Hemorrhage, Spontaneous Subarachnoid|Hemorrhages, Spontaneous Subarachnoid|Hemorrhages, Subarachnoid|Hemorrhage, Subarachnoid|Intracranial Subarachnoid Hemorrhage|Intracranial Subarachnoid Hemorrhages|Perinatal Subarachnoid Hemorrhage|Perinatal Subarachnoid Hemorrhages|SAHs (Subarachnoid Hemorrhage)|SAH (Subarachnoid Hemorrhage)|Spontaneous Subarachnoid Hemorrhage|Spontaneous Subarachnoid Hemorrhages|Subarachnoid Hemorrhage, Aneurysmal|Subarachnoid Hemorrhage, Intracranial|Subarachnoid Hemorrhage, Perinatal|Subarachnoid Hemorrhages|Subarachnoid Hemorrhages, Aneurysmal|Subarachnoid Hemorrhages, Intracranial|Subarachnoid Hemorrhages, Perinatal|Subarachnoid Hemorrhage, Spontaneous|Subarachnoid Hemorrhages, Spontaneous
C562790|143870||Hypercalciuria, Absorptive, 2|HCA2|Hypercalciuria, Familial Idiopathic
D013344||Subacute Sclerosing Panencephalitis|Encephaltis, Inclusion Body, Measles|Inclusion Body Encephalitis, Measles|Leukoencephalitides, Subacute Sclerosing|Leukoencephalitis, Subacute Sclerosing|Leukoencephalitis, Van Bogaert|Leukoencephalitis, Van Bogaerts|Leukoencephalitis, Van Bogaert&apos;s|Measles Inclusion Body Encephalitis|Panencephalitides, Subacute Sclerosing|Panencephalitis, Subacute Sclerosing|Sclerosing Leukoencephalitides, Subacute|Sclerosing Leukoencephalitis, Subacute|Sclerosing Panencephalitides, Subacute|Sclerosing Panencephalitis, Subacute|SSPE|Subacute Sclerosing Leukoencephalitides|Subacute Sclerosing Leukoencephalitis|Subacute Sclerosing Panencephalitides|Van Bogaert Leukoencephalitis|Van Bogaert&apos;s Leukoencephalitis|Van Bogaerts Leukoencephalitis
D000007||Abdominal Injuries|Abdominal Injury|Injuries, Abdominal|Injury, Abdominal
611095|C567014||Mental Retardation, Autosomal Recessive 9|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26|MRT26|MRT9
D000006||Abdomen, Acute|Abdomens, Acute|Acute Abdomen|Acute Abdomens
178500|D054990||Idiopathic Pulmonary Fibrosis|Cryptogenic Fibrosing Alveolitides|Cryptogenic Fibrosing Alveolitis|Disease, Hamman-Rich|Diseases, Hamman-Rich|Dysplasia, Fibrocystic Pulmonary|Dysplasias, Fibrocystic Pulmonary|Familial Idiopathic Pulmonary Fibrosis|Fibrocystic Pulmonary Dysplasia|Fibrocystic Pulmonary Dysplasias|Fibrosing Alveolitides, Cryptogenic|Fibrosing Alveolitis, Cryptogenic|Hamman Rich Disease|Hamman-Rich Disease|Hamman-Rich Diseases|Idiopathic Fibrosing Alveolitis, Chronic Form|Idiopathic Pulmonary Fibroses|Idiopathic Pulmonary Fibrosis, Familial|Interstitial Pneumonias, Usual|Interstitial Pneumonia, Usual|Interstitial Pneumonitides, Usual|Interstitial Pneumonitis, Usual|INTERSTITIAL PNEUMONITIS, USUAL;UIP HAMMAN-RICH DISEASE, INCLUDED|IPF|Pneumonitides, Usual Interstitial|Pneumonitis, Usual Interstitial|Pulmonary Dysplasia, Fibrocystic|Pulmonary Dysplasias, Fibrocystic|Pulmonary Fibroses, Idiopathic|Pulmonary Fibrosis, Idiopathic|Usual Interstitial Pneumonia|Usual Interstitial Pneumonias|Usual Interstitial Pneumonitides|Usual Interstitial Pneumonitis
C566915|611561||Meckel Syndrome, Type 5|MKS5
C536301||Parvovirus antenatal infection|Maternofetal infection by parvovirus|Parvovirus B19 antenatal infection
C537632||Bixler Christian Gorlin syndrome|HMC Syndrome|Hypertelorism microtia facial clefting syndrome|Hypertelorism, Microtia, Facial Clefting Syndrome
300799||MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE|MRXSR
D000008||Abdominal Neoplasms|Abdominal Neoplasm|Neoplasm, Abdominal|Neoplasms, Abdominal
C537630||Birdshot chorioretinopathy
C563921||Congenital Corneal Opacities, Cornea Guttata, and Corectopia|Corneal Opacities, Congenital, with Cornea Guttata and Corectopia
185900|C566096||Syndactyly, Type I|CHROMOSOME 2q35 DUPLICATION SYNDROME|SD1|SDTY1|SYNDACTYLY, TYPE I|Zygodactyly|ZYGODACTYLY CRANIOSYNOSTOSIS, PHILADELPHIA TYPE, INCLUDED
C563920||Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
D014647||Varicose Ulcer|Hypertension Ulcers, Venous|Hypertension Ulcer, Venous|Stasis Ulcer|Stasis Ulcers|Stasis Ulcers, Venous|Stasis Ulcer, Venous|Ulcers, Stasis|Ulcer, Stasis|Ulcers, Varicose|Ulcers, Venous|Ulcers, Venous Hypertension|Ulcers, Venous Stasis|Ulcer, Varicose|Ulcer, Venous|Ulcer, Venous Hypertension|Ulcer, Venous Stasis|Varicose Ulcers|Venous Hypertension Ulcer|Venous Hypertension Ulcers|Venous Stasis Ulcer|Venous Stasis Ulcers|Venous Ulcer|Venous Ulcers
D014646||Varicocele|Varicoceles
D052880||Pyomyositis|Myositis, Tropical|Tropical Myositis
D013319||Strongyle Infections, Equine|Equine Strongyle Infection|Equine Strongyle Infections|Equine Strongyloses|Equine Strongylosis|Infection, Equine Strongyle|Infections, Equine Strongyle|Strongyle Infection, Equine|Strongyloses, Equine|Strongylosis, Equine
C538617|188025||Thrombocytopenia Paris-Trousseau type|CHROMOSOME 11q23 DELETION SYNDROME|TCPT|Thrombocytopenia, Paris-Trousseau Type
C537625||Gurrieri Sammito Bellussi syndrome|Gurrieri syndrome|Skeletal dysplasia epilepsy short stature
D051556||Hyperbilirubinemia, Neonatal|Direct Hyperbilirubinemia, Neonatal|During Infancies, Hyperbilirubinemia|Hyperbilirubinemia During Infancy|Hyperbilirubinemia, Neonatal Direct|Hyperbilirubinemia, Neonatal Indirect|Indirect Hyperbilirubinemia, Neonatal|Infancy, Hyperbilirubinemia During|Neonatal Direct Hyperbilirubinemia|Neonatal Hyperbilirubinemia|Neonatal Indirect Hyperbilirubinemia
C537628||Hair defect with photosensitivity and mental retardation|Calderon Gonzalez-Cantu syndrome|Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation
D039941||Bifidobacteriales Infections|Bifidobacteriales Infection|Infection, Bifidobacteriales|Infections, Bifidobacteriales
D013313||Stress Disorders, Post-Traumatic|Acute Post Traumatic Stress Disorder|Acute Post-Traumatic Stress Disorder|Chronic Post Traumatic Stress Disorder|Chronic Post-Traumatic Stress Disorder|Delayed Onset Post Traumatic Stress Disorder|Delayed Onset Post-Traumatic Stress Disorder|Neuroses, Posttraumatic|Neuroses, Post Traumatic|Neuroses, Post-Traumatic|Posttraumatic Neuroses|Post-Traumatic Neuroses|Posttraumatic Stress Disorder|Post-Traumatic Stress Disorder|Posttraumatic Stress Disorders|Post Traumatic Stress Disorders|Post-Traumatic Stress Disorders|PTSD|Stress Disorder, Posttraumatic|Stress Disorder, Post Traumatic|Stress Disorder, Post-Traumatic|Stress Disorders, Posttraumatic|Stress Disorders, Post Traumatic
C537629||HAIR-AN syndrome|Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome|Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN)
C537626||Hagemoser Weinstein Bresnick syndrome|Optic atrophy, deafness and peripheral neuropathy|Optic atrophy, hearing loss and peripheral neuropathy
D000016||Abnormalities, Radiation-Induced|Abnormalities, Radiation Induced|Abnormality, Radiation-Induced|Radiation Induced Abnormalities|Radiation-Induced Abnormalities|Radiation-Induced Abnormality
D049248||Decapitation|Decapitations
D000015||Abnormalities, Multiple|Multiple Abnormalities
C536311||Patterson Stevenson syndrome|Patterson Stevenson Fontaine syndrome|Patterson-Stevenson-Fontaine Syndrome|Polydactyly of Triphalangeal Thumb|Polydactyly, Preaxial II|Split-foot deformity with ectrodactyly and mandibulofacial dysostosis|Split-Foot Deformity With Mandibulofacial Dysostosis|TPT and PSD syndrome|Triphalangeal Thumb-Polydactyly Syndrome|Triphalangeal thumb polysyndactyly syndrome|Triphalangeal Thumb-Polysyndactyly Syndrome|Triphalangeal Thumb with Polysyndactyly
C537642||Chromosome 4, partial trisomy distal 4q|Chromosome 4, partial trisomy 4 (q25-qter)|Chromosome 4, partial trisomy 4 (q26 or q27-qter)|Chromosome 4, partial Trisomy 4 (q31 or 32-qter)
C536312||Juvenile pauciarticular chronic arthritis|Pauciarticular chronic arthritis
C537643||Duplication 4p Syndrome|Chromosome 4, Partial Trisomy 4p|Chromosome 4, Trisomy 4p|Duplication 4p
C537640||Chromosome 4, monosomy 4q32|Deletion 4q32|Monosomy 4q32
C536310||Patterson pseudoleprechaunism syndrome|Patterson&apos;s leprechaunoid syndrome
C537641||Chromosome 4, 4q Terminal Deletion Syndrome|Chromosome 4, Deletion 4q31-qter Syndrome|Chromosome 4, Deletion 4q32-qter Syndrome|Chromosome 4, Deletion 4q33-qter Syndrome|Chromosome 4, monosomy distal 4q|Chromosome 4, Partial Monosomy of Distal 4q
C563938||Obesity, Hyperphagia, and Developmental Delay
D000014||Abnormalities, Drug-Induced|Abnormalities, Drug Induced|Abnormality, Drug-Induced|Drug Induced Abnormalities|Drug-Induced Abnormalities|Drug-Induced Abnormality
C562606||Nephrosialidosis
C567383|612245||Inflammatory Bowel Disease 14|Ibd14
C563937||Arterial Dissection with Lentiginosis
D000013||Congenital Abnormalities|Abnormalities, Congenital|Abnormality, Congenital|Birth Defect|Birth Defects|Congenital Abnormality|Congenital Defect|Congenital Defects|Defect, Birth|Defect, Congenital|Defects, Birth|Defects, Congenital|Deformities|Deformity
C567380|612259||Inflammatory Bowel Disease 16|IBD16
C563936||Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly|Acrocardiofacial Syndrome
C563935||Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities
D001342||Autonomic Nervous System Diseases|ANS (Autonomic Nervous System) Diseases|ANS Disease|ANS Diseases|Autonomic Central Nervous System Diseases|Autonomic Disease|Autonomic Diseases|Autonomic Dysfunction, Segmental|Autonomic Dysfunctions, Segmental|Autonomic Nervous System Disorders|Autonomic Peripheral Nervous System Diseases|Central Autonomic Nervous System Diseases|Disorders of the Autonomic Nervous System|Nervous System Diseases, Autonomic|Nervous System Diseases, Parasympathetic|Nervous System Diseases, Sympathetic|Parasympathetic Nervous System Diseases|Peripheral Autonomic Nervous System Diseases|Segmental Autonomic Dysfunction|Segmental Autonomic Dysfunctions|Sympathetic Nervous System Diseases
D014657||Vasculitis|Angiitides|Angiitis|Vasculitides
C563939||Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
C535754|608779||Congenital disorder of glycosylation type 2E|CDG2E|CDGIIE|CDG IIE|Congenital Disorder Of Glycosylation, Type IIE
C564253|608358||Myopathy, Myosin Storage|Myopathy, Hyaline Body, Autosomal Dominant
C567782|105210||Amyloidosis, Hereditary, Transthyretin-Related|AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED|AMYLOID POLYNEUROPATHY, FAMILIAL;FAP AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED|Hereditary Amyloidosis, Transthyretin-Related|Transthyretin Amyloidosis
C537635||Partial Trisomy 3q Syndrome|Chromosome 3, Distal 3q2 Trisomy|Chromosome 3, Trisomy 3q2|Partial Duplication 3q Syndrome
C536305||Patau syndrome|Bartholin-Patau syndrome|Chromosome 13 duplication|Chromosome 13 trisomy syndrome|Complete Trisomy 13 Syndrome|Patau&apos;s Syndrome|Trisomy 13|Trisomy 13 syndrome
C537636||Ring chromosome 4 syndrome|Ring 4, Chromosome
C536302||Pascual Castroviejo syndrome|Hemangiomas, and cutaneous and intracranial vascular deformations
C536303||Pashayan syndrome|Blepharonasofacial malformation syndrome
C537634||Chromosome 3, trisomy 3q13 2 q25|Duplication 3q13.2 q25|Trisomy 3q13 2 q25
C536308||Patella hypoplasia mental retardation|Mental retardation with patellar hypoplasia and luxation
C537639||Chromosome 4q- Syndrome|Chromosome 4 Long Arm Deletion|Chromosome 4, monosomy 4q|Deletion 4q|Monosomy 4q
C536306||Patel Bixler syndrome|Alopecia, dysplastic nails, palmar and plantar hyperkeratosis|Palmoplantar hyperkeratosis and alopecia
C537637||Chromosome 4 short arm deletion|Chromosome 4p deletion|Deletion 4p|Monosomy 4p
D014653||Vascular Headaches|Cephalgias, Vascular|Cephalgia, Vascular|Headaches, Vascular|Headache, Vascular|Vascular Cephalgia|Vascular Cephalgias|Vascular Headache
D013322||Strongyloidiasis|Anguilluliases|Anguilluliasis|Strongyloidiases
C536307||Patella aplasia, coxa vara, tarsal synostosis|Congenital coxa vara, patella aplasia and tarsal synostosis|Patella Aplasia, Coxa Vara, And Tarsal Synostosis
C537638||Chromosome 4, monosomy 4p14 p16|Deletion 4p14 p16|Monosomy 4p14 p16
C567434|612018||Cataract, Juvenile, With Microcornea And Glucosuria|CJMG
D014652||Vascular Diseases|Diseases, Vascular|Disease, Vascular|Vascular Disease
C563960|600318||Diabetes Mellitus, Insulin-Dependent, 3|IDDM3|Insulin-Dependent Diabetes Mellitus 3
C537650||Chromosome 5, trisomy 5q|Duplication 5q|Trisomy 5q
231950|C536836||Glutathionuria|Gamma-glutamyltransferase deficiency|Gamma-glutamyltranspeptidase deficiency|GGT DEFICIENCY|GTG DEFICIENCY
D002644||Chickenpox|Chicken Pox|Varicella
C566178||Breast Cancer, Familial Male
C536323||Pointer syndrome|Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties
C536320||Sabinas brittle hair syndrome|Brittle hair and mental deficit|Sabinas syndrome
D002647||Chilblains|Chilblain|Idiopathic Pernioses|Idiopathic Perniosis|Pernioses|Pernioses, Idiopathic|Perniosis|Perniosis, Idiopathic
C563901||Brachial Palsy, Familial Congenital
D002640||Chiari-Frommel Syndrome|Chiari Frommel Syndrome|Disease, Frommel|Disease, Frommel&apos;s|Frommel Disease|Frommel&apos;s Disease|Syndrome, Chiari-Frommel
C536552|601606||Trichoepithelioma multiple familial|Brooke-Fordyce Trichoepitheliomas|EAC|Epithelioma adenoides cysticum of Brooke|Epithelioma, hereditary multiple benign cystic|Hereditary Multiple Benign Cystic Epithelioma|MFT1|Multiple Familial Trichoepithelioma|Trichoepithelioma, Multiple Familial, 1
C563905||Ulnar/Fibular Ray Defect and Brachydactyly
C563904||Cerebrofrontofacial Syndrome
D003970||Diastema|Diastemas
D014625||Vaginal Neoplasms|Cancer of the Vagina|Cancer of Vagina|Cancers, Vagina|Cancers, Vaginal|Cancer, Vagina|Cancer, Vaginal|Neoplasms, Vagina|Neoplasms, Vaginal|Neoplasm, Vagina|Neoplasm, Vaginal|Vagina Cancer|Vagina Cancers|Vaginal Cancer|Vaginal Cancers|Vaginal Neoplasm|Vagina Neoplasm|Vagina Neoplasms
D055947|609192||Loeys-Dietz Syndrome|AAT5|AORTIC ANEURYSM, FAMILIAL THORACIC 5|FURLONG SYNDROME|LDS1|Loeys Dietz Aortic Aneurysm Syndrome|Loeys-Dietz Aortic Aneurysm Syndrome|Loeys Dietz Syndrome|LOEYS-DIETZ SYNDROME 1|Loeys Dietz Syndrome, Type 1a|Loeys-Dietz Syndrome, Type 1a|Syndrome, Loeys-Dietz
C564250|608372||Deafness, Autosomal Dominant 49|DFNA49
D014624||Vaginal Fistula|Fistulas, Vaginal|Fistula, Vaginal|Vaginal Fistulas
C566180||Callosities, Hereditary Painful|Callosities, Painful Plantar
D014623||Vaginal Diseases|Diseases, Vaginal|Disease, Vaginal|Vaginal Disease
C580477||Surfactant Dysfunction|Interstitial Lung Disease Due To Surfactant Deficiency|Pulmonary Surfactant Metabolism Dysfunction|Surfactant Metabolism Deficiency
D014627||Vaginitis|Vaginitides
C536315||Pediatric ulcerative colitis|Ulcerative colitis, pediatric
C537646||Chromosome 4, trisomy 4q25 qter|Duplication 4q25 qter|Trisomy 4q25 qter
C580473||Succinate-Coa Ligase Deficiency|Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria|Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria|Succinate-Coenzyme A Ligase Deficiency
C566185||Heart Block, Nonprogressive
C537647||Chromosome 5, monosomy 5q35|Deletion 5q35|Monosomy 5q35
C566186||Cardiac Conduction Defect, Nonprogressive
C536313||Pavone Fiumara Rizzo syndrome|Syndactyly type 1 with cataracts and mental retardation
C537644||Chromosome 4, trisomy 4q|Duplication 4q|Trisomy 4q
C580471||Sebocystomatosis
C566187||Epidermolytic Hyperkeratosis, Late-Onset
C537645||Chromosome 4, trisomy 4q21|Duplication 4q21|Trisomy 4q21
C580472||Stickler Syndrome|Hereditary Arthro-Ophthalmo-Dystrophy|Hereditary Arthro-Ophthalmopathy|Stickler Dysplasia
C566188||Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
C536319||Pelizaeus-Merzbacher-like disease, autosomal recessive, 2|Leukodystrophy, Hypomyelinating, 3|Perinatal Sudanophilic leukodystrophy
126700|C563034||Basal Laminar Drusen|Drusen, Cuticular|Drusen, Early Adult-Onset, Grouped|Drusen of Bruch Membrane
C580470||Stargardt Macular Degeneration|Stargardt Disease
C566182||Calcific Aortic Disease with Immunologic Abnormalities, Familial
C536317||PEHO syndrome|Infantile cerebellooptic atrophy|PEHO-Like Syndrome|Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy
C537648||Chromosome 5, trisomy 5p|Chromosome 5p syndrome|Chromosome 5, Trisomy 5p, Complete (5p11-pter)|Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter)
C536318||Pelizaeus-Merzbacher like brain sclerosis|Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
C537649||Chromosome 5, trisomy 5pter p13 3|Duplication 5pter p13.3|Trisomy 5pter p13 3
C566184||Prenatal Cortical Hyperostosis, Lethal
D002659||Child Development Disorders, Pervasive|Autism Spectrum Disorder|Autism Spectrum Disorders|Development Disorder, Pervasive|Development Disorders, Pervasive|Disorder, Autism Spectrum|Disorder, Pervasive Development|Disorders, Autism Spectrum|Disorders, Pervasive Development|Pervasive Child Development Disorders|Pervasive Development Disorder|Pervasive Development Disorders|Spectrum Disorder, Autism|Spectrum Disorders, Autism
C537660||Basaran Yilmaz syndrome|Keratoderma, hypotrichosis and leukonychia totalis
D029597|192500||Romano-Ward Syndrome|Long QT Syndrome 1|LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|Long QT Syndrome Type 1|LQT1|Romano Ward Syndrome|ROMANO-WARD SYNDROME|RWS|Syndrome, Romano-Ward|Syndrome, Ward-Romano|Ventricular Fibrillation with Prolonged QT Interval|VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC, INCLUDED;LQT1/2, DIGENIC, INCLUDED|Ward Romano Syndrome|Ward-Romano Syndrome|WRS
C565346|191100||Tuberous Sclerosis 1|TS|TSC|TSC1|TUBEROSE SCLEROSIS|TUBEROUS SCLEROSIS COMPLEX
C564589|607326||Smith-McCort Dysplasia|SMC|SMC1|SMITH-MCCORT DYSPLASIA 1
C537661||Bassoe syndrome
C537664||Bazopoulou Kyrkanidou syndrome
C536334||Polymorphic catecholergic ventricular tachycardia|Bidirectional Tachycardia Induced By Catecholamines|Catecholamine-induced polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia|Cpvt2|Familial polymorphic ventricular tachycardia|Stress-induced polymorphic ventricular tachycardia|Ventricular Tachycardia, Catecholaminergic Polymorphic, 1|Ventricular Tachycardia, Catecholaminergic Polymorphic, 2|Ventricular Tachycardia, Familial|Ventricular Tachycardia, Familial Polymorphic
C537665||Beardwell syndrome|Familial ankylosing vertebral hyperostosis with tylosis
D001329||Autolysis|Autolyses
C536331||Polydactyly myopia syndrome|Czeizel Brooser syndrome|Polydactyly-Myopia Syndrome|Polydactyly, Postaxial, With Progressive Myopia|Postaxial polydactyly-progressive myopia syndrome|Postaxial Polydactyly with progressive myopia
C537662||Battaglia Neri syndrome
C536332||Polydactyly preaxial type 1|Fromont Anomaly|Polydactyly, Preaxial I|Thumb polydactyly
D002658||Developmental Disabilities|Child Development Deviation|Child Development Deviations|Child Development Disorder|Child Development Disorders|Child Development Disorders, Specific|Developmental Delay Disorder|Developmental Delay Disorders|Developmental Disability|Development Deviation, Child|Development Deviations, Child|Development Disorder, Child|Development Disorders, Child|Deviation, Child Development|Disabilities, Developmental|Disability, Developmental
D002653||Child Behavior Disorders|Behavior Disorders, Child|Disorders, Child Behavior
C564543|614732||Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies|Adrenal Hypoplasia, Cytomegalic Type|IMAGE Syndrome
256840|C564948||Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
311000|C564087||Ophthalmoplegia, External, and Myopia|Myopia-Ophthalmoplegia Syndrome|OPEM
C535962|131950||Epidermolysis bullosa simplex, Ogna type|Ebs-Og|Epidermolysis bullosa simplex 1
C537126|610708||Optic atrophy 5|OPA5
D012859|270150||Sjogren&apos;s Syndrome|Sicca Syndrome|Sjogrens Syndrome|Sjogren Syndrome|Syndrome, Sicca|Syndrome, Sjogren&apos;s
C536326||Polycystic kidney disease, type 1
C537657||Basal ganglia calcification, idiopathic 2|Basal Ganglia Calcification, Idiopathic, 2
C536200|225320||Ehlers-Danlos syndrome, cardiac valvular form|Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Cardiac valvular form of Ehlers-Danlos syndrome|Ehlers-Danlos Syndrome, Arthrochalasis Type|Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form
C536324||Polycystic bone disease
C537655||Basal cell carcinoma, infundibulocystic|Basal cell carcinoma with follicular differentiation|Infundibulocystic basal cell carcinoma
C537656||Basal cell carcinoma, multiple|Multiple basal cell carcinoma
C566192||Brachydactyly-Nystagmus-Cerebellar Ataxia
C566193||Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
C537659||Basan syndrome|Ectodermal dysplasia absent dermatoglyphics
C566194||Brachydactyly, Type E
194090|C565991||Wilms Tumor 3|WT3
300752||PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED|ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED|PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT|XLDPP|XLEPP
C566156||Cataract, Nuclear Total
C567487||Thrombocytopenia 3|Thrombocytopenia, Autosomal Recessive, 3
613690||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7|CMH7
C567307|612446||Complement Component 6 Deficiency|C6D|C6 Deficiency|Complement C6 Deficiency|C6 DEFICIENCY COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL, INCLUDED|C6 DEFICIENCY, SUBTOTAL, INCLUDED
C536629|242900||Schimke immunoosseous dysplasia|Immunoosseous dysplasia Schimke type|Immunoosseous Dysplasia, Schimke Type|Schimke Immuno-Osseous Dysplasia|SCHIMKE IMMUNOOSSEOUS DYSPLASIA|SIOD
D014604||Uveal Neoplasms|Neoplasms, Uveal|Neoplasm, Uveal|Uveal Neoplasm
D014603||Uveal Diseases|Diseases, Uveal|Disease, Uveal|Uveal Disease
C580457||Spastic Paraplegia Type 7|Hereditary Spastic Paraplegia, Paraplegin Type|Spastic Paraplegia 7
C580458||Spastic Paraplegia Type 8|Autosomal Dominant Spastic Paraplegia 8|Hereditary Spastic Paraplegia 8|Spastic Paraplegia 8|Spg 8
C580455||Spastic Paraplegia Type 3a|Spastic Paraplegia 3|Spastic Paraplegia 3a|Spg3a
D014608||Uveoparotid Fever|Fevers, Uveoparotid|Fever, Uveoparotid|Heerfordt Syndrome|Syndrome, Heerfordt|Uveoparotid Fevers|Uveoparotitides|Uveoparotitis
C580456||Spastic Paraplegia Type 4|Spastic Paraplegia 4
D014607||Uveomeningoencephalitic Syndrome|Disease, Vogt-Koyanagi-Harada|Syndrome, Uveomeningoencephalitic|Syndrome, VKH|Syndrome, VKH (Vogt Koyanagi Harada)|Syndrome, Vogt Koyanagi Harada|Syndrome, Vogt-Koyanagi-Harada|Uveomeningoencephalitides|Uveomeningoencephalitis|VKH Syndrome|VKH Syndrome (Vogt Koyanagi Harada)|VKH (Vogt Koyanagi Harada) Syndrome|Vogt Koyanagi Harada Disease|Vogt-Koyanagi-Harada Disease|Vogt Koyanagi Harada Syndrome|Vogt-Koyanagi-Harada Syndrome
C580453||Spastic Paraplegia Type 11|Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum|Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum|Hsp-Tcc|Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum
D014606||Uveitis, Anterior|Anterior Uveitides|Anterior Uveitis|Uveitides, Anterior
612362||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12|BMIQ12|OBESITY, SUSCEPTIBILITY TO
D014605||Uveitis|Uveitides
C567494||Hyperphenylalaninemia, Non-Pku Mild
C567491||Renal Tubular Dysgenesis With Choanal Atresia And Athelia
C567490||Diarrhea 3, Secretory Sodium, Congenital, Syndromic
C566160||Cataract, Floriform
C567493||Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency
C566161||Cataract, Crystalline Coralliform
C566162||Cataract, Crystalline Aculeiform|Cataract, Aculeiform
D002637||Chest Pain|Chest Pains|Pain, Chest|Pains, Chest
D003968||Diarrhea, Infantile|Diarrheas, Infantile|Infantile Diarrhea|Infantile Diarrheas
D001304||Auditory Diseases, Central|Auditory Cortex Disorder|Auditory Cortex Disorders|Auditory Disease, Central|Auditory Dysfunction, Central|Auditory Pathway Disorders, Central|Central Auditory Disease|Central Auditory Diseases|Central Auditory Dysfunction|Central Auditory Pathway Disorders|Cortex Disorder, Auditory|Cortex Disorders, Auditory|Dysfunction, Central Auditory|Dysfunctions, Central Auditory
D006457|300818||Hemoglobinuria, Paroxysmal|Cold Paroxysmal Hemoglobinuria|Hemoglobinuria, Cold Paroxysmal|Hemoglobinuria, Nocturnal Paroxysmal|Hemoglobinuria, Paroxysmal Cold|Hemoglobinuria, Paroxysmal Nocturnal|Marchiafava Micheli Syndrome|Marchiafava-Micheli Syndrome|Nocturnal Paroxysmal Hemoglobinuria|Paroxysmal Cold Hemoglobinuria|Paroxysmal Hemoglobinuria|Paroxysmal Hemoglobinuria, Cold|Paroxysmal Hemoglobinuria, Nocturnal|Paroxysmal Nocturnal Hemoglobinuria|PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1|PNH1|Syndrome, Marchiafava-Micheli
D003969||Vipoma|Cholera, Pancreatic|Diarrheogenic Islet Cell Tumor|Diarrheogenic Tumor|Diarrheogenic Tumors|Pancreatic Cholera|Pancreatic VIPoma|Pancreatic VIPomas|Syndrome, Verner-Morrison|Syndrome, Vipoma|Tumor, Diarrheogenic|Tumors, Diarrheogenic|Tumors, VIP-Secreting (VIPoma)|Tumor, VIP-Secreting (VIPoma)|Vasoactive Intestinal Peptide Producing Tumor|Vasoactive Intestinal Peptide-Producing Tumor|Vasoactive Intestinal Peptide (VIP) Tumor|Verner Morrison Syndrome|Verner-Morrison Syndrome|VIPoma, Pancreatic|Vipomas|VIPomas, Pancreatic|Vipoma Syndrome|VIP-Secreting Tumors (VIPoma)|VIP Secreting Tumor (VIPoma)|VIP-Secreting Tumor (VIPoma)|Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome|Watery Diarrhea Syndrome|Watery Diarrhea with Hypokalemic Alkalosis|WDHA|WDHA Syndrome|WDHA Syndromes|WDHH
C537913|609441||Chondrodysplasia, acromesomelic, with genital anomalies
D002639||Cheyne-Stokes Respiration|Cheyne Stokes Respiration|Respiration, Cheyne-Stokes
D001308||Auditory Perceptual Disorders|Acoustic Perceptual Disorder|Acoustic Perceptual Disorders|Auditory Comprehension Disorder|Auditory Comprehension Disorders|Auditory Inattention|Auditory Inattentions|Auditory Perceptual Disorder|Auditory Processing Disorder|Auditory Processing Disorders|Comprehension Disorder, Auditory|Comprehension Disorders, Auditory|Disorder, Acoustic Perceptual|Disorder, Auditory Comprehension|Disorder, Auditory Processing|Disorder, Psychoacoustical|Disorders, Acoustic Perceptual|Disorders, Auditory Comprehension|Disorders, Auditory Processing|Disorders, Psychoacoustical|Inattention, Auditory|Inattentions, Auditory|Perceptual Disorder, Acoustic|Perceptual Disorder, Auditory|Perceptual Disorders, Acoustic|Perceptual Disorders, Auditory|Processing Disorder, Auditory|Processing Disorders, Auditory|Psychoacoustical Disorder|Psychoacoustical Disorders
D003965||Diaphragmatic Eventration|Diaphragm Eventration|Eventration, Diaphragmatic|Eventration of Diaphragm
613680||BEAULIEU-BOYCOTT-INNES SYNDROME|BBIS|MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS
D049288||Muscular Dystrophies, Limb-Girdle|Limb Girdle Muscular Dystrophies|Limb-Girdle Muscular Dystrophies|Limb Girdle Muscular Dystrophy|Limb-Girdle Muscular Dystrophy|Limb-Girdle Syndrome|Muscular Dystrophies, Limb Girdle|Muscular Dystrophy, Limb Girdle|Muscular Dystrophy, Limb-Girdle|Myopathic Limb-Girdle Syndrome
D003967||Diarrhea|Diarrheas
D003963||Diaper Rash|Diaper Rashes|Rash, Diaper|Rashes, Diaper
613685||DEAFNESS, AUTOSOMAL RECESSIVE 83|DFNB83
613686||SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE|SCDO4
C563723|609408||Holoprosencephaly 8|HPE8
612348||THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN|ACTIVATOR, INCLUDED
613689||MAMMARY-DIGITAL-NAIL SYNDROME|MDNS
613679||PROTHROMBIN DEFICIENCY, CONGENITAL|HYPOPROTHROMBINEMIA DYSPROTHROMBINEMIA, INCLUDED
D014615||Vaccinia|Vaccinias
C563575|157640||Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1|PEOA1|Progressive External Ophthalmoplegia, Autosomal Dominant, 1
611022||DEAFNESS, AUTOSOMAL RECESSIVE 24|DFNB24
612353||POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE|DSAP4|POROK6|POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4
167750|C536376||Annular pancreas|Pancreas, annular
C566175||Carabelli Anomaly of Maxillary Molar Teeth
C566176||Car Factor Deficiency|Car. Factor Deficiency
C563700|609549||Nanophthalmos 2|Nanophthalmia 2|Nanophthalmos, Autosomal Recessive|NNO2
D049292||Leukoaraiosis|Leukoaraioses
D049291||Seroma|Seromas
C566172||Familial Sudden Death
C566173||Monocyte Esterase Deficiency|Monocyte Carboxylesterase Deficiency
D018198||Mixed Tumor, Malignant|Malignant Mixed Tumor|Malignant Mixed Tumors|Mixed Tumors, Malignant|Tumor, Malignant Mixed|Tumors, Malignant Mixed
D018197||Hepatoblastoma|Hepatoblastomas
D018199||Mixed Tumor, Mesodermal|Mesodermal Mixed Tumor|Mesodermal Mixed Tumors|Mixed Tumors, Mesodermal|Tumor, Mesodermal Mixed|Tumors, Mesodermal Mixed
D010033|166760||Otitis Media|COME/ROM|Inflammation, Middle Ear|Middle Ear Inflammation|OMS|OTITIS MEDIA, CHRONIC/RECURRENT|OTITIS MEDIA, SUSCEPTIBILITY TO
216950||COMPLEMENT COMPONENT C1r/C1s DEFICIENCY|C1r/C1s DEFICIENCY
D018194||Adenomyoma|Adenomyomas
D018193||Neoplasms, Complex and Mixed|Complex and Mixed Neoplasms
D002601||Chancre|Chancres
C537610||Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
D018196||Carcinoma, Adenosquamous|Adenosquamous Carcinoma|Adenosquamous Carcinomas|Carcinomas, Adenosquamous
D002602||Chancroid|Chancroids
D018195||Adenosarcoma|Adenosarcomas
613670||MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
C566137||Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
D018190||Lymphatic Vessel Tumors|Lymphatic Vessel Tumor|Tumor, Lymphatic Vessel|Tumors, Lymphatic Vessel
613671||MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS|MRAMS
613672||SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE|SPAX4
D018191||Lymphangioma, Cystic|Colli, Cystic Hygroma|Cystic Hygroma|Cystic Hygroma Colli|Cystic Hygromas|Cystic Lymphangioma|Cystic Lymphangiomas|Hygroma|Hygroma Colli, Cystic|Hygroma, Cystic|Hygromas|Hygromas, Cystic|Lymphangiomas, Cystic
D003930||Diabetic Retinopathy|Diabetic Retinopathies|Retinopathies, Diabetic|Retinopathy, Diabetic
613674||VESICOURETERAL REFLUX 3|VUR3
613676||SECKEL SYNDROME 4|SCKL4
C580439||Short Qt Syndrome
613668||MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
C537609||Rhizomelic dysplasia Patterson Lowry type|Patterson-Lowry rhizomelic dysplasia|Patterson Lowry syndrome|Rhizomelic Dysplasia, Patterson-Lowry Type
C537602||Short rib-polydactyly syndrome, Verma-Naumoff type|Polydactyly with neonatal chondrodystrophy, type 3|Polydactyly With Neonatal Chondrodystrophy, Type III|Short Rib-Polydactyly Syndrome, Type III|Verma-Naumoff syndrome
C580430||Salih Myopathy|Early-Onset Myopathy with Fatal Cardiomyopathy|Salih Cmd|Salih Congenital Muscular Dystrophy
C537603||Short stature and locking fingers
C566142||Cervical Hypertrichosis with Underlying Kyphoscoliosis|Hypertrichosis, Posterior Cervical, with Underlying Kyphoscoliosis
C563649|148300||Keratoconus 1|KTCN1
C567474||Mental Retardation, X-Linked, Syndromic 9
601696||NOVELTY SEEKING PERSONALITY TRAIT|RISK-TAKING BEHAVIOR, INCLUDED
C537605||Rhabdomyosarcoma of the orbit
C566140||Cervical Vertebral Dysplasia
C535608|612952||Aicardi-Goutieres syndrome 5|AGS5|Aicardi-Goutieres syndrome, autosomal dominant
C537620||Growth mental deficiency syndrome of Myhre|Growth-mental deficiency syndrome of Myhre|Laps Syndrome|Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature|Myhre syndrome
C537621||Grubben de Cock Borghgraef syndrome
D003333|122460||Coronaviridae Infections|Coronaviridae Infection|CORONAVIRUS 229E SUSCEPTIBILITY|CVS|HCVS|HUMAN CORONAVIRUS SENSITIVITY|Infection, Coronaviridae|Infections, Coronaviridae
D002613||Cheilitis|Cheilitides
C566147||Minicore Myopathy, Moderate, with Hand Involvement|Multicore Myopathy, Moderate, with Hand Involvement|Multiminicore Disease, Moderate, with Hand Involvement
613660||CONE-ROD DYSTROPHY 15|CORD15|RETINITIS PIGMENTOSA 65, INCLUDED|RP65, INCLUDED
613661||CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip|CDG1P
D008557|155950||Melorheostosis|MEL|Melorheostoses|MELORHEOSTOSIS, ISOLATED|Melorheostosis of Leri
613662||MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)|MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED|MNGIE, POLG-RELATED|MTDPS4B
C565367|252605||Mucolipidosis III Gamma|ML IIIC|ML III GAMMA|Mucolipidosis IIIC|Mucolipidosis III, Complementation Group C|Mucolipidosis III, Iranian Variant Form|Mucolipidosis III, Variant Form
D018234|606243||Sarcoma, Alveolar Soft Part|Alveolar Soft Part Sarcoma|Alveolar Soft-Part Sarcoma|ASPS
611523|C548074||Pontocerebellar Hypoplasia Type 6|Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects|PCH6|PONTOCEREBELLAR HYPOPLASIA, TYPE 6
612336||THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT|THPH5
C565291|605805||Dermatitis, Atopic, 4|ATOD4
613658||RAJAB SYNDROME|DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS
C537619||Krieble Bixler syndrome|Autosomal dominant blepharophimosis with multiple congenital anomalies
C536045|166220||Osteogenesis imperfecta, type 4|OI4|OI, TYPE IV|Osteogenesis Imperfecta, Type IV|Osteogenesis imperfecta with normal sclerae
607454|C537200||Spinocerebellar ataxia 21|SCA21
C537955|115660||Cerulean cataract|CATARACT 7|CATARACT 7, CERULEAN TYPE|Cataract, congenital, blue dot type 1|Cataract, Congenital, Blue Dot Type, 1|Cataract, congenital, cerulean type 1|Cataract, Congenital, Cerulean Type, 1|CCA1|CTRCT7
D013285|185100||Strabismus|Comitant Strabismus|Comitant Strabismus, Convergent|Convergent Comitant Strabismus|Hypertropia|Hypertropias|Mechanical Strabismus|Noncomitant Strabismus|Phoria|Phorias|Squint|STBMS1, INCLUDED|Strabismus, Comitant|Strabismus, Convergent Comitant|Strabismus, Mechanical|Strabismus, Noncomitant|STRABISMUS, SUSCEPTIBILITY TO|STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED
601682||GLAUCOMA 1, PRIMARY OPEN ANGLE, C|GLC1C
C537613||Ribbing disease|Diaphyseal sclerosis, multiple|Hereditary multiple diaphyseal sclerosis|Multiple diaphyseal sclerosis
C566152||Cavernous Malformations of CNS and Retina
C537614||Kozlowski Warren Fisher syndrome|Cloverleaf skull generalised bone dysplasia
C566153||Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations
C563306|601494||Cardiomyopathy, Dilated, 1D|CMD1D|LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED|LVNC6, INCLUDED
C537611||Rhizomelic syndrome|Familial rhizomelic dysplasia|Rhizomelic dysplasia, familial
C567486||Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
C537612||RHYNS syndrome|Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia|Retinitis pigmentosa syndrome
C537705|147920||Kabuki syndrome|KABUK1|Kabuki make up syndrome|Kabuki Makeup Syndrome|Kabuki Make-Up Syndrome|KABUKI SYNDROME|KABUKI SYNDROME 1|KMS|Niikawa-Kuroki syndrome
C537618||Krauss Herman Holmes syndrome|Telecanthus, hypertelorism, strabismus, and pes cavus syndrome
C537615||Kozlowski-Krajewska syndrome
C537616||Krasnow Qazi syndrome|Krasnow Qazi Yermakov syndrome
C566151||Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm
D018176||Torovirus Infections|Infections, Torovirus|Infection, Torovirus|Torovirus Infection
D018175||Birnaviridae Infections|Birnaviridae Infection|Infection, Birnaviridae|Infections, Birnaviridae
D003914||Dextrocardia|Dextrocardias
C566117||Cluster Headache, Familial
D018178||Flaviviridae Infections|Flaviviridae Infection|Infection, Flaviviridae|Infections, Flaviviridae
D018177||Flavivirus Infections|Flavivirus Infection|Infection, Flavivirus|Infections, Flavivirus
C566119||Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
C567444||Congenital Heart Defects, X-Linked
C567443||Ichthyosis, X-Linked, Complicated
C566113||Progressive Encephalomyelitis with Rigidity
D018174||Arterivirus Infections|Arterivirus Infection|Infection, Arterivirus|Infections, Arterivirus
C567446||Stevenson-Carey Syndrome
313900|C564052||Thrombocytopenia 1|THC|THC1|Thrombocytopenia, X-Linked|Thrombocytopenia, X-Linked, 1|THROMBOCYTOPENIA, X-LINKED, 1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED|X-Linked Thrombocytopenia|XLT
D018173||Circoviridae Infections|Circoviridae Infection|Circovirus Infection|Circovirus Infections|Infection, Circoviridae|Infection, Circovirus|Infections, Circoviridae|Infections, Circovirus
C567445||Hunter-Macdonald Syndrome
C563686|609919||Gallbladder Disease 3|GBD3
400044||46,XY SEX REVERSAL 1|46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED 46,XY TRUE HERMAPHRODITISM, SRY-RELATED, INCLUDED|46,XY SEX REVERSAL, SRY-RELATED|SEX-REVERSING LOCUS ON X, FORMERLY, INCLUDED;SRVX, FORMERLY, INCLUDED|SRXY1|TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY, INCLUDED;TDFX, FORMERLY, INCLUDED
400045||46,XX SEX REVERSAL 1|46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE|46,XX SEX REVERSAL, SRY-POSITIVE|46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE, INCLUDED|OVOTESTICULAR DISORDER OF SEX DEVELOPMENT, INCLUDED|OVOTESTICULAR DSD, INCLUDED|SRXX1|XX MALE, SRY-POSITIVE
612319||SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE|FAHN|FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION|LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA|SPG35
400043||DEAFNESS, Y-LINKED 1|DFNY1
613646||METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT|METHYLMALONIC ACIDEMIA, TCblR TYPE
613647||SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE|SPG48
C566825|168550||Parietal Foramina With Cleidocranial Dysplasia|Cleidocranial Dysplasia With Parietal Foramina|PFMCCD
D006192||Haemophilus Infections|Haemophilus Infection|Hemophilus Infection|Hemophilus Infections|Infection, Haemophilus|Infection, Hemophilus|Infections, Haemophilus|Infections, Hemophilus
C564296|608088||Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux|HSAN1B|HSN1B|Neuropathy, Hereditary Sensory And Autonomic, Type IB|Neuropathy, Hereditary Sensory, Type IB
601675||TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH|IBIDS SYNDROME, INCLUDED|ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED|RETARDATION, INCLUDED|TAY SYNDROME, INCLUDED|TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED
C536170|222600||Diastrophic dysplasia|DD DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED|Diastrophic dwarfism|DTD
194200|D014927||Wolff-Parkinson-White Syndrome|ACCESSORY ATRIOVENTRICULAR PATHWAYS, INCLUDED|Anomalous Ventricular Excitation Syndrome|Auriculoventricular Accessory Pathway Syndrome|False Bundle-Branch Block Syndrome|Syndrome, Wolff-Parkinson-White|Syndrome, Wolf-Parkinson-White|Syndrome, WPW|Ventricular Pre-Excitation with Arrhythmia|Wolff Parkinson White Syndrome|Wolf Parkinson White Syndrome|Wolf-Parkinson-White Syndrome|WPW Syndrome|WPW SYNDROME PREEXCITATION SYNDROME, INCLUDED
D003919||Diabetes Insipidus
C566127||Choreoathetosis, Familial Inverted|Infantile Choreoathetosis of Fisher
C563816|608996||Premature Ovarian Failure 3|POF3
D018186||Pneumovirus Infections|Infection, Pneumovirus|Infections, Pneumovirus|Pneumovirus Infection
D003925||Diabetic Angiopathies|Angiopathies, Diabetic|Angiopathy, Diabetic|Diabetic Angiopathy|Diabetic Microangiopathies|Diabetic Microangiopathy|Diabetic Vascular Complication|Diabetic Vascular Complications|Diabetic Vascular Disease|Diabetic Vascular Diseases|Microangiopathies, Diabetic|Microangiopathy, Diabetic|Vascular Complication, Diabetic|Vascular Complications, Diabetic|Vascular Disease, Diabetic|Vascular Diseases, Diabetic
D003926||Diabetic Coma|Coma, Diabetic|Comas, Diabetic|Diabetic Comas
C566478|610441||Testicular Microlithiasis
D018188||Cardiovirus Infections|Cardiovirus Infection|Infection, Cardiovirus|Infections, Cardiovirus
C536867|603563||Spastic paraplegia 8, autosomal dominant|SPG8
D003920||Diabetes Mellitus
C567455||Camptodactyly Syndrome, Guadalajara, Type III
180500||AXENFELD-RIEGER SYNDROME, TYPE 1|RGS|RIEG|RIEG1|RIEGER SYNDROME, TYPE 1
D018182||Pestivirus Infections|Infection, Pestivirus|Infections, Pestivirus|Pestivirus Infection
D003921||Diabetes Mellitus, Experimental|Alloxan Diabetes|Diabetes, Alloxan|Diabetes, Streptozocin|Diabetes, Streptozotocin|Diabete, Streptozocin|Experimental Diabetes Mellitus|Streptozocin Diabete|Streptozocin Diabetes|Streptozotocin Diabetes
C566124||Choroidal Osteoma, Bilateral
D018185||Morbillivirus Infections|Infection, Morbillivirus|Infections, Morbillivirus|Morbillivirus Infection
C567457||Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis
C566125||Chromate Resistance
D018184||Paramyxoviridae Infections|Infection, Parainfluenza Virus|Infection, Paramyxoviridae|Infections, Parainfluenza Virus|Infections, Paramyxoviridae|Parainfluenza|Parainfluenza Virus Infection|Parainfluenza Virus Infections|Paramyxoviridae Infection|Virus Infection, Parainfluenza|Virus Infections, Parainfluenza
D007863|136120||Lecithin Acyltransferase Deficiency|Acyltransferase Deficiencies, alpha-Lecithin-Cholesterol|Acyltransferase Deficiencies, alpha-Lecithin:Cholesterol|Acyltransferase Deficiency, alpha-Lecithin-Cholesterol|Acyltransferase Deficiency, alpha-Lecithin:Cholesterol|Acyltransferase Deficiency, Lecithin:Cholesterol|alpha LCAT Deficiency|alpha-LCAT Deficiency|alpha-Lecithin:Cholesterol Acyltransferase Deficiencies|alpha Lecithin Cholesterol Acyltransferase Deficiency|alpha Lecithin:Cholesterol Acyltransferase Deficiency|alpha-Lecithin-Cholesterol Acyltransferase Deficiency|alpha-Lecithin:Cholesterol Acyltransferase Deficiency|Corneal Dystrophy, Dyslipoproteinemic|Deficiencies, alpha-LCAT|Deficiencies, alpha-Lecithin:Cholesterol Acyltransferase|Deficiencies, LCATA|Deficiency, alpha-LCAT|Deficiency, alpha-Lecithin-Cholesterol Acyltransferase|Deficiency, alpha-Lecithin:Cholesterol Acyltransferase|Deficiency, LCAT|Deficiency, Lecithin Acyltransferase|Deficiency, Lecithin:Cholesterol Acyltransferase|Disease, Fish-Eye|Dyslipoproteinemic Corneal Dystrophy|FED|Fish Eye Disease|Fish-Eye Disease|LCATA Deficiencies|LCATA Deficiency|LCAT Deficiency|Lecithin Cholesterol Acyltransferase Deficiency|Lecithin:Cholesterol Acyltransferase Deficiency|Norum Disease
D003923||Diabetes Mellitus, Lipoatrophic|Diabete, Lipoatrophic|Diabetes, Lipoatrophic|Lipoatrophic Diabete|Lipoatrophic Diabetes|Lipoatrophic Diabetes Mellitus
C566126||Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase|Hyperlipoproteinemia, Type IC
C567635|613345||Hypokalemic Periodic Paralysis, Type 2|HOKPP2
D045724||Diverticulosis, Stomach|Diverticulosis, Gastric|Gastric Diverticulosis|Stomach Diverticulosis
613640||NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC|HSAN1C|HSAN IC|HSN1C|HSN IC|NEUROPATHY, HEREDITARY SENSORY, TYPE IC
C563662|610799||Invasive Pneumococcal Disease, Recurrent Isolated, 1|INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED|IPD1
613641||CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B|CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B|CMTRIB|RI-CMTB
D045723||Diverticulosis, Esophageal|Esophageal Diverticulosis
612306||THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1|THYROTROPIN QUANTITATIVE TRAIT LOCUS 1|TSHQTL1
613643||PARKINSON DISEASE 5, AUTOSOMAL DOMINANT|PARK5
C567555|612840||Leukocyte Adhesion Deficiency, Type III|IADD|Integrin Activation Deficiency Disease|LAD1V|LAD3|Leukocyte Adhesion Deficiency 1 Variant|Leukocyte Adhesion Deficiency 3
612304||THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE|PROC DEFICIENCY, AUTOSOMAL RECESSIVE|PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE|THPH4
C580424||Ring Chromosome 20 Syndrome|R(20) Syndrome|Ring 20 Syndrome|Ring Chromosome 20|Ring Chromosome 20 Epilepsy Syndrome
C580420||Ren-Related Kidney Disease|Familial Juvenile Hyperuricemic Nephropathy 2
D045729||Pneumonia of Swine, Mycoplasmal|Enzootic Pneumonia of Pigs|Enzootic Pneumonia of Swine|Mycoplasmal Pneumonia of Swine|Mycoplasma Pneumonia of Pigs|Mycoplasma Pneumonia of Swine|Pneumonia of Swine, Enzootic|Swine Enzootic Pneumonia|Swine Mycoplasmal Pneumonia|Swine Mycoplasma Pneumonia
C535764|227200||Eunuchoidism, familial hypogonadotropic|FIGD|Gonadotropin deficiency, familial idiopathic
C566130||Adrenal Insufficiency, Congenital
C566131||Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
C567464||Protoporphyria, Erythropoietic, X-Linked Dominant|Erythrohepatic Protoporphyria, X-Linked|Xldpt
C566132||Chlorpropamide-Alcohol Flushing|Endemic Tyrolean Infantile Cirrhosis
C566133||Chiari Malformation Type I with Syringomyelia|CM1 with Syringomyelia
D055847|609310||Lynch Syndrome II|COCA2|Colon Cancer, Familial Nonpolyposis, Type 2|Colorectal Cancer, Hereditary Nonpolyposis, Type 2|FCC2|HNPCC2|Lynch cancer family syndrome 2|Lynch Cancer Family Syndrome II
D003928||Diabetic Nephropathies|Diabetic Glomerulosclerosis|Diabetic Kidney Disease|Diabetic Kidney Diseases|Diabetic Nephropathy|Glomerulosclerosis, Diabetic|Glomerulosclerosis, Nodular|Intracapillary Glomerulosclerosis|Kidney Disease, Diabetic|Kidney Diseases, Diabetic|Kimmelstiel Wilson Disease|Kimmelstiel-Wilson Disease|Kimmelstiel Wilson Syndrome|Kimmelstiel-Wilson Syndrome|Nephropathies, Diabetic|Nephropathy, Diabetic|Nodular Glomerulosclerosis|Syndrome, Kimmelstiel-Wilson
C536860|607584||Spastic paraplegia 24|SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE|SPG24
D003929||Diabetic Neuropathies|Amyotrophies, Diabetic|Amyotrophy, Diabetic|Asymmetric Diabetic Proximal Motor Neuropathy|Asymmetric Polyneuropathies, Diabetic|Asymmetric Polyneuropathy, Diabetic|Autonomic Neuropathies, Diabetic|Autonomic Neuropathy, Diabetic|Diabetic Amyotrophies|Diabetic Amyotrophy|Diabetic Asymmetric Polyneuropathies|Diabetic Asymmetric Polyneuropathy|Diabetic Autonomic Neuropathies|Diabetic Autonomic Neuropathy|Diabetic Mononeuropathies|Diabetic Mononeuropathy|Diabetic Mononeuropathy Simplex|Diabetic Mononeuropathy Simplices|Diabetic Neuralgia|Diabetic Neuralgias|Diabetic Neuropathies, Painful|Diabetic Neuropathy|Diabetic Neuropathy, Painful|Diabetic Polyneuropathies|Diabetic Polyneuropathy|Mononeuropathies, Diabetic|Mononeuropathy, Diabetic|Mononeuropathy Simplex, Diabetic|Mononeuropathy Simplices, Diabetic|Neuralgia, Diabetic|Neuralgias, Diabetic|Neuropathies, Diabetic|Neuropathies, Diabetic Autonomic|Neuropathies, Painful Diabetic|Neuropathy, Diabetic|Neuropathy, Diabetic Autonomic|Neuropathy, Painful Diabetic|Painful Diabetic Neuropathies|Painful Diabetic Neuropathy|Polyneuropathies, Diabetic|Polyneuropathies, Diabetic Asymmetric|Polyneuropathy, Diabetic|Polyneuropathy, Diabetic Asymmetric|Simplex, Diabetic Mononeuropathy|Simplices, Diabetic Mononeuropathy|Symmetric Diabetic Proximal Motor Neuropathy
181800||SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1|ADOLESCENT IDIOPATHIC SCOLIOSIS|AIS|IS1
613630||COCOON SYNDROME|FETAL ENCASEMENT SYNDROME
227645||FANCONI ANEMIA, COMPLEMENTATION GROUP C|FA3|FAC|FACC|FANCC|FANCONI PANCYTOPENIA, TYPE 3
C567411|612132||Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
227646||FANCONI ANEMIA, COMPLEMENTATION GROUP D2|FA4|FACD|FAD2|FANCD|FANCD2|FANCONI ANEMIA, COMPLEMENTATION GROUP D|FANCONI PANCYTOPENIA, TYPE 4
D007499||Iris Diseases|Disease, Iris|Diseases, Iris|Iris Disease
D006177||Gynecomastia|Adolescent Gynecomastia|Breast Enlargement, Male|Enlargement, Male Breast|Gynecomastia, Adolescent|Gynecomastia, Infant|Gynecomastia, Newborn|Infant Gynecomastia|Male Breast Enlargement|Newborn Gynecomastia
613625||FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2|F5F8D2
D006175||Gynatresia|Asherman&apos;s Syndrome|Ashermans Syndrome|Asherman Syndrome|Gynatresias|Intrauterine Synechiae|Syndrome, Asherman|Syndrome, Asherman&apos;s|Synechiae, Intrauterine|Synechiae, Uterine|Uterine Synechiae
C537777|262850||Anti-plasmin deficiency, congenital|Alpha-2-plasmin inhibitor deficiency|Antiplasmin Deficiency|Antiplasmin deficiency, congenital|Plasmin Inhibitor Deficiency
C536575|301900||Borjeson-Forssman-Lehmann syndrome|BFLS|BORJ|Borjeson Syndrome|Mental deficiency, epilepsy and endocrine disorders|Mental Deficiency, Epilepsy, And Endocrine Disorders|MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS|MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE|MRXSBFL
C567770|613075||Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis|MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS|MACS Syndrome|TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
C567430||Dystonia 16|DYT16
C566100||Symphalangism, C. S. Lewis Type|Thumbs, Stiff
D018149||Glucose Intolerance|Glucose Intolerances|Intolerance, Glucose|Intolerances, Glucose
D055577|228000||Farber Lipogranulomatosis|AC DEFICIENCY|Acid Ceramidase Deficiencies|Acid Ceramidase Deficiency|Ceramidase Deficiencies|Ceramidase Deficiency|Ceramidase Deficiency, Acid|Deficiencies, Ceramidase|Deficiencies, N-Laurylsphingosine Deacylase|Deficiency, Acid Ceramidase|Deficiency, Ceramidase|Deficiency, N-Laurylsphingosine Deacylase|Disease, Farber&apos;s|Diseases, Farber&apos;s|Farber Disease|Farber&apos;s Disease|Farbers Disease|Farber&apos;s Diseases|Lipogranulomatosis, Farber|N-Laurylsphingosine Deacylase Deficiencies|N Laurylsphingosine Deacylase Deficiency|N-Laurylsphingosine Deacylase Deficiency
C566105||Stratton-Parker Syndrome|Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly
C567439||Chromosome 15q13.3 Microdeletion Syndrome|15q13.3 Microdeletion|15q13.3 Microdeletion Syndrome|Chromosome 15q13.3 Deletion Syndrome|Microdeletion 15q13.3 Syndrome
C566108||Stormorken Syndrome|Thrombocytopathy, Asplenia, and Miosis
C566101||Symphalangism of Toes
C565691|610655||Telangiectasia, Hereditary Hemorrhagic, Type 4|HHT4
C566102||Sulfhemoglobinemia, Congenital
600309||ATRIOVENTRICULAR SEPTAL DEFECT 3|AVSD3
C566104||Striae Distensae, Familial
125700|D020790||Diabetes Insipidus, Neurogenic|CDI|Central Diabetes Insipidus|Diabetes Insipidus, Central|Diabetes Insipidus Cranial Type|Diabetes Insipidus, Cranial Type|Diabetes Insipidus, Neurohypophyseal|Diabetes Insipidus, Neurohypophyseal Type|Diabetes Insipidus, Pituitary|Diabetes Insipidus Primary Central|Diabetes Insipidus, Primary Central|Diabetes Insipidus Secondary To Vasopressin Deficiency|Neurogenic Diabetes Insipidus|Neurohypophyseal Diabetes Insipidus|Pituitary Diabetes Insipidus|Vasopressin Defective Diabetes Insipidus|Vasopressin Deficiency
C566109||Storm Syndrome
D045745||Scleroderma, Limited|Limited Scleroderma|Limited Systemic Scleroderma|Limited Systemic Sclerodermas|Scleroderma, Limited Systemic|Sclerodermas, Limited Systemic|Systemic Scleroderma, Limited|Systemic Sclerodermas, Limited
D045743||Scleroderma, Diffuse|Diffuse Cutaneous Systemic Sclerosis|Diffuse Scleroderma|Diffuse Systemic Scleroses|Diffuse Systemic Sclerosis|Progressive Scleroderma|Progressive Systemic Sclerosis|Scleroderma, Progressive|Sclerodermas, Sudden Onset|Scleroderma, Sudden Onset|Scleroses, Diffuse Systemic|Sclerosis, Diffuse Systemic|Sclerosis, Progressive Systemic|Sudden Onset Scleroderma|Sudden Onset Sclerodermas|Systemic Scleroses, Diffuse|Systemic Sclerosis, Diffuse|Systemic Sclerosis, Progressive
C535860|602089||Hemangioma, capillary infantile|HCI|Hemangioma, hereditary capillary
D006188||Haemonchiasis|Haemonchiases
D003555|220100||Cystinuria|CSNU|CSNU1, FORMERLY|CSNU3, FORMERLY|Cystinurias|CYSTINURIA, TYPE A/B, INCLUDED|CYSTINURIA, TYPE B, INCLUDED|CYSTINURIA, TYPE I, FORMERLY|CYSTINURIA, TYPE II, FORMERLY|CYSTINURIA, TYPE III, FORMERLY|CYSTINURIA, TYPE NON-I, FORMERLY CYSTINURIA, TYPE A, INCLUDED
613616||HYPEROXALURIA, PRIMARY, TYPE III|HP3
613617||RETINITIS PIGMENTOSA 58|RP58
184095||SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE|PSEUDO-MORQUIO SYNDROME, TYPE 2|SED, MAROTEAUX TYPE
C567442||Rett Syndrome, Zappella Variant
C566110||Stomatocytosis II
C566111||Stomatocytosis I|Overhydrated Hereditary Stomatocytosis|Potassium-Sodium Disorder Of Erythrocyte
D018159||Endolymphatic Hydrops|Hydrops, Endolymphatic
D019584||Hot Flashes|Flashes, Hot
D018253||Adenoma, Villous|Adenomas, Villous|Villous Adenoma|Villous Adenomas
D018252||Syringoma|Syringomas
146800|D053560||Ichthyosis Bullosa of Siemens|Bullous Type Ichthyoses|Bullous Type Ichthyosis|Bullous Type of Ichthyosis|IBS ICHTHYOSIS EXFOLIATIVA, INCLUDED|Ichthyoses, Bullous Type|ICHTHYOSIS BULLOSA OF SIEMENS|Ichthyosis Bullous Type|Ichthyosis, Bullous Type|Ichthyosis, Bullous Type of Siemens|Siemens Ichthyosis Bullosa
D019586||Intracranial Hypertension|Elevated ICP (Intracranial Pressure)|Elevated Intracranial Pressure|Hypertension, Intracranial|ICP, Elevated (Intracranial Pressure)|ICP (Intracranial Pressure) Elevation|ICP (Intracranial Pressure) Increase|Intracranial Pressure, Elevated|Intracranial Pressure Increase|Pressure, Elevated Intracranial|Pressure Increase, Intracranial
D018255||Adenomatosis, Pulmonary|Adenomatoses, Pulmonary|Pulmonary Adenomatoses|Pulmonary Adenomatosis
D006250|234500||Hartnup Disease|Amino Acid Transport Disorder, Neutral|HARTNUP DISEASE|Hartnup Disorder|HND|Neutral Amino Acid Transport Defect|Neutral Amino Acid Transport Disorder|Transport Disorder, Neutral Amino Acid|Transport Disorder, Neutral Amino Acids
D019585||Intracranial Hypotension|Essential Intracranial Hypotension|Hypotension, Essential Intracranial|Hypotension, Intracranial|Hypotension, Secondary Intracranial|Hypotension, Spontaneous Intracranial|Intracranial Hypotension, Essential|Intracranial Hypotension, Secondary|Intracranial Hypotension, Spontaneous|Secondary Intracranial Hypotension|Spontaneous Intracranial Hypotension
D018254||Adenomatoid Tumor|Adenomatoid Tumors|Tumor, Adenomatoid|Tumors, Adenomatoid
C567472|300711||Pyloric Stenosis, Infantile Hypertrophic, 4|IHPS4
D018251||Hidrocystoma|Hidrocystomas
D018250||Acrospiroma|Acrospiroma, Eccrine|Acrospiromas|Acrospiromas, Eccrine|Clear Cell Hidradrenoma|Clear-Cell Hidradrenoma|Clear-Cell Hidradrenomas|Eccrine Acrospiroma|Eccrine Acrospiromas|Hidradenoma|Hidradenomas|Hidradenoma, Solid-Cystic|Hidradenomas, Solid-Cystic|Hidradrenoma, Clear-Cell|Hidradrenoma, Nodular|Hidradrenomas, Clear-Cell|Hidradrenomas, Nodular|Nodular Hidradrenoma|Nodular Hidradrenomas|Solid Cystic Hidradenoma|Solid-Cystic Hidradenoma|Solid-Cystic Hidradenomas
C537129|311070||Optic atrophy polyneuropathy deafness|Charcot-Marie-Tooth Disease, X-Linked Recessive, 5|Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5|CMTX5|Familial opticoacoustic nerve degeneration and polyneuropathy|Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive|Optic atrophy, neural deafness, and distal neurogenic amyotrophy|Optic atrophy, polyneuropathy, and deafness|Optic atrophy, sensorineural hearing loss and polyneuropathy|Rosenberg Chutorian syndrome|Rosenberg-Chutorian Syndrome
D031221||Knee Dislocation|Dislocation, Knee|Dislocations, Knee|Knee Dislocations
C563883|608656||Prostate Cancer, Hereditary, 3|HPC3
D057851||Posterior Capsular Rupture, Ocular
C565789|604348||Advanced Sleep-Phase Syndrome, Familial|ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1|Fasps|FASPS1
C535903|603543||Limb-mammary syndrome|LMS|Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies
C562448|608709||Lipodystrophy, Partial, Acquired|APLD|APLD, SUSCEPTIBILITY TO|Barraquer-Simons Syndrome|Lipodystrophy, Cephalothoracic Type|LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO|Lipodystrophy, Partial, Progressive
102510||ACROPECTOROVERTEBRAL DYSPLASIA|ACRPV|F SYNDROME
D018249||Adenoma, Oxyphilic|Huerthle Cell Tumor|Hurthle Cell Tumor|Oncocytoma|Oxyphilic Adenoma
C565228|609790||Alzheimer Disease 11|AD11|Alzheimer Disease, Familial, 11
D018246||Adrenocortical Adenoma|Adenoma, Adrenal Cortical|Adenoma, Adrenocortical|Adenoma, Conn|Adenomas, Adrenal Cortical|Adenomas, Adrenocortical|Adenomas, Conn|Adrenal Cortical Adenoma|Adrenal Cortical Adenomas|Adrenocortical Adenomas|Conn Adenoma|Conn Adenomas|Conn Disease|Conn&apos;s Disease|Conns Disease|Disease, Conn|Disease, Conn&apos;s
D018245||Trophoblastic Tumor, Placental Site|Placental Site Trophoblastic Tumor|Placental-Site Trophoblastic Tumor|Placental-Site Trophoblastic Tumors|Placental Trophoblastic Tumor|Placental Trophoblastic Tumors|Trophoblastic Tumor, Placental|Trophoblastic Tumor, Placental-Site|Trophoblastic Tumors, Placental|Trophoblastic Tumors, Placental-Site|Tumor, Placental-Site Trophoblastic|Tumor, Placental Trophoblastic|Tumors, Placental-Site Trophoblastic|Tumors, Placental Trophoblastic
D018248||Adenoma, Liver Cell|Adenoma, Hepatocellular|Adenomas, Hepatocellular|Adenomas, Liver Cell|Benign Hepatoma|Benign Hepatomas|Hepatocellular Adenoma|Hepatocellular Adenomas|Hepatoma, Benign|Hepatomas, Benign|Liver Cell Adenoma|Liver Cell Adenomas
D031222||Patellar Dislocation|Dislocation, Patellar|Dislocations, Patellar|Patellar Dislocations
D019578||Multiple System Atrophy|Atrophies, Multisystem|Atrophies, Multisystemic|Atrophy, Multiple System|Atrophy, Multisystem|Atrophy, Multisystemic|Multiple System Atrophies|Multiple System Atrophy Syndrome|Multisystem Atrophies|Multisystem Atrophy|Multisystemic Atrophies|Multisystemic Atrophy
D019595||Severe Dengue|Dengue Hemorrhagic Fever|Dengue, Severe|Dengue Shock Syndrome|Dengues, Severe|Fever, Philippine Hemorrhagic|Fever, Singapore Hemorrhagic|Fever, Thai Hemorrhagic|Hemorrhagic Dengue|Hemorrhagic Dengues|Hemorrhagic Fever, Dengue|Philippine Hemorrhagic Fever|Severe Dengues|Singapore Hemorrhagic Fever|Thai Hemorrhagic Fever
C563161|608026||Hypertensive Nephropathy|HNP1
D018263||Adenocarcinoma, Follicular|Adenocarcinomas, Follicular|Carcinoma, Follicular Thyroid|Carcinomas, Follicular Thyroid|Follicular Adenocarcinoma|Follicular Adenocarcinomas|Follicular Thyroid Carcinoma|Follicular Thyroid Carcinomas|Thyroid Carcinoma, Follicular|Thyroid Carcinomas, Follicular
D018266||Adenocarcinoma, Sebaceous|Adenocarcinomas, Sebaceous|Sebaceous Adenocarcinoma|Sebaceous Adenocarcinomas
C537799|231070||Gerodermia osteodysplastica|Geroderma osteodysplastica|Geroderma osteodysplastica hereditaria|Geroderma Osteodysplasticum|GERODERMIA OSTEODYSPLASTICA|GO|Walt Disney dwarfism
D018265||Carcinoma, Papillary, Follicular
179010||PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1|IHPS|IHPS1|PYLORIC STENOSIS, INFANTILE|PYLORIC STENOSIS, INFANTILE HYPERTROPHIC
D019591||Pseudophakia
D018262||Adenocarcinoma, Clear Cell|Adenocarcinomas, Clear Cell|Clear Cell Adenocarcinoma|Clear Cell Adenocarcinomas
102530||SPERMATOGENIC FAILURE 6|ACROSOME MALFORMATION OF SPERMATOZOA|GLOBOZOOSPERMIA|ROUND-HEADED SPERMATOZOA|SPERMATOZOA, ROUND-HEADED|SPGF6
D018261||Mesothelioma, Cystic|Cystic Mesothelioma|Cystic Mesotheliomas|Mesotheliomas, Cystic
D020567||Fetal Weight|Body Weight, Fetal|Body Weights, Fetal|Fetal Body Weight|Fetal Body Weights|Fetal Weights|Weight, Fetal|Weights, Fetal
C567479|300699||Mental Retardation, X-Linked 94|MENTAL RETARDATION, X-LINKED 94|MENTAL RETARDATION, X-LINKED, SYNDROMIC 29|MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE|MRX94|MRXS29|MRXSW
D045888||Ganglion Cysts|Cyst, Ganglion|Cyst, Ganglionic|Cyst, Myxoid|Cysts, Ganglion|Cysts, Ganglionic|Cysts, Myxoid|Ganglion|Ganglion Cyst|Ganglionic Cyst|Ganglionic Cysts|Ganglions|Myxoid Cyst|Myxoid Cysts
C484001||RIV immunoglobulin variant protein, human|protein RIV, human
C562719|300622||Tn Syndrome|Galactosyltransferase Deficiency|TN POLYAGGLUTINATION SYNDROME|TNPS
606003|C563207||Transaldolase Deficiency
162830|C563010||Neutrophilia, Hereditary
607748|C564336||Hypercholanemia, Familial|FHCA
D057868||Anastomotic Leak|Anastomotic Leakage|Anastomotic Leakages|Anastomotic Leaks|Leakage, Anastomotic|Leakages, Anastomotic|Leak, Anastomotic|Leaks, Anastomotic
607721||NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR|NSLH
D019588||Aging, Premature|Premature Aging
C537993|601472||Charcot-Marie-Tooth disease, Type 2D|Charcot-Marie-Tooth disease, axonal, Type 2D|Charcot-Marie-Tooth disease, neuronal, Type 2D|Charcot-Marie-Tooth Neuropathy, Type 2d|Cmt2d
D018256||Adenomatous Polyps|Adenomatous Polyp|Polyp, Adenomatous|Polyps, Adenomatous
C565732|605019||Hypobetalipoproteinemia, Familial, 2|Fhbl2|HYPOLIPIDEMIA, FAMILIAL, COMBINED
D057867||Endoleak|Endoleaks|Leak, Perigraft|Leaks, Perigraft|Perigraft Leak|Perigraft Leaks
D018231||Leiomyomatosis|Leiomyomatoses
208150|C536647||Pena Shokeir syndrome, type 1|Arthrogryposis multiplex congenita pulmonary hypoplasia|Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings|Arthrogryposis multiplex congenita with pulmonary hypoplasia|FADS|Fetal akinesia deformation sequence|Fetal akinesia sequence|Lethal Pena-Shokeir 1 syndrome|Pena-Shokeir Syndrome, Type I
C563387||Rhabdomyolysis, Cerivastatin-Induced
D018230||Leiomyoma, Epithelioid|Epithelioid Leiomyoma|Epithelioid Leiomyomas|Leiomyoblastoma|Leiomyoblastomas|Leiomyomas, Epithelioid
D018233||Rhabdomyosarcoma, Embryonal|Embryonal Rhabdomyosarcoma|Embryonal Rhabdomyosarcomas|Rhabdomyosarcomas, Embryonal
607706||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE|CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE|CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
D007579||Jejunal Diseases|Disease, Jejunal|Diseases, Jejunal|Jejunal Disease
D006950|144250||Hyperlipidemia, Familial Combined|Combined Hyperlipidemia, Familial|Combined Hyperlipidemias, Familial|Familial Combined Hyperlipidemia|Familial Combined Hyperlipidemias|FCHL|FCHL1|FCHL2|HYPERLIPIDEMIA, COMBINED, 1|HYPERLIPIDEMIA, COMBINED, 2|HYPERLIPIDEMIA, FAMILIAL COMBINED, 1|HYPERLIPIDEMIA, FAMILIAL COMBINED, 2|Hyperlipidemia, Multiple Lipoprotein Type|Hyperlipidemia, Multiple Lipoprotein-Type|Hyperlipidemias, Familial Combined|Hyperlipidemias, Multiple Lipoprotein-Type|HYPLIP1|HYPLIP2|Lipoprotein-Type Hyperlipidemia, Multiple|Lipoprotein-Type Hyperlipidemias, Multiple|Multiple Lipoprotein-Type Hyperlipidemia|Multiple Lipoprotein-Type Hyperlipidemias
143095||SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS|CDMD|CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS|HSD|HUMEROSPINAL DYSOSTOSIS|SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE
D007575||Jaw, Edentulous|Edentulous Jaw|Edentulous Jaws|Jaws, Edentulous
D007576||Jaw, Edentulous, Partially
D057873||Peri-Implantitis|Periimplantitides|Peri-Implantitides|Periimplantitis|Peri Implantitis
D007580||Jejunal Neoplasms|Cancer, Jejunal|Cancer of Jejunum|Cancer of the Jejunum|Cancers, Jejunal|Jejunal Cancer|Jejunal Cancers|Jejunal Neoplasm|Jejunum Cancer|Jejunum Cancers|Neoplasm, Jejunal|Neoplasms, Jejunal
C566410|603098||Deafness, Autosomal Recessive 13|DFNB13
D019559||Capillary Leak Syndrome|Capillary Leak Syndromes|Clarkson Disease|Clinical Capillary Leak Syndrome|Systemic Capillary Leak Syndrome
D018228||Sarcoma, Small Cell|Cell Sarcoma, Small|Cell Sarcomas, Small|Sarcomas, Small Cell|Small Cell Sarcoma|Small Cell Sarcomas
C563390||Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
D018227||Sarcoma, Clear Cell|Clear Cell Sarcoma|Clear Cell Sarcomas|Melanoma, Malignant, of Soft Parts|Sarcomas, Clear Cell
C565524|235000||Hemihyperplasia, Isolated|Hemi 3 Syndrome|Hemihyperplasia|Hemihypertrophy, Isolated|HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME, INCLUDED|HHP|IH
138500||HYPERGLYCINURIA|GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS|GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS|IMINOGLYCINURIA TYPE II
D018229||Angiomyoma|Angioleiomyoma|Angioleiomyomas|Angiomyomas|Leiomyomas, Vascular|Leiomyoma, Vascular|Vascular Leiomyoma|Vascular Leiomyomas
D018224||Myofibromatosis|Myofibromatoses
C563394||Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
D018223||Dermatofibrosarcoma|Darier-Ferrand Tumor|Darier-Hoffmann Tumor|Dermatofibrosarcomas
D019557||Dermatitis, Perioral|Dermatitides, Periocular|Dermatitides, Perioral|Dermatitis, Periocular|Periocular Dermatitides|Periocular Dermatitis|Perioral Dermatitides|Perioral Dermatitis
D018226||Fibroadenoma|Fibroadenomas
C566998|611155||Alzheimer Disease 15|AD15
C563392||Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant|ADRESD|RESDAD
D018225||Neoplasms, Fibroepithelial|Fibroepithelial Neoplasm|Fibroepithelial Neoplasms|Neoplasm, Fibroepithelial
D018242||Neuroectodermal Tumors, Primitive|Cerebral Primitive Neuroectodermal Tumor|Ependymoblastoma|Ependymoblastomas|Medulloepithelioma|Medulloepitheliomas|Neoplasm, Primitive Neuroepithelial|Neoplasms, Primitive Neuroepithelial|Neuroectodermal Tumor, Primitive|Neuroepithelial Neoplasm, Primitive|Neuroepithelial Neoplasms, Primitive|Neuroepithelial Tumor, Primitive|Neuroepithelial Tumors, Primitive|PNET|PNETs|Primitive Neuroectodermal Tumor|Primitive Neuroectodermal Tumors|Primitive Neuroepithelial Neoplasm|Primitive Neuroepithelial Neoplasms|Primitive Neuroepithelial Tumor|Primitive Neuroepithelial Tumors|Spongioblastoma|Spongioblastomas|Tumor, Primitive Neuroectodermal|Tumor, Primitive Neuroepithelial|Tumors, Primitive Neuroectodermal|Tumors, Primitive Neuroepithelial
C563398||Auditory Neuropathy, Nonsyndromic Recessive
D019572||Retinal Neoplasms|Cancer of the Retina|Cancer, Retinal|Cancers, Retinal|Neoplasm, Retinal|Neoplasms, Retinal|Retinal Cancer|Retinal Cancers|Retinal Neoplasm|Retinal Tumor|Retinal Tumors|Tumor, Retinal|Tumors, Retinal
D018241||Neuroectodermal Tumors, Primitive, Peripheral|Extracranial Primitive Neuroectodermal Tumor|Neuroectodermal Neoplasm, Peripheral Primitive|Neuroectodermal Tumor, Peripheral|Neuroectodermal Tumor, Peripheral Primitive|Neuroectodermal Tumors, Peripheral|Neuroepithelioma|Neuroepithelioma, Peripheral|Neuroepitheliomas|Peripheral Neuroectodermal Tumor|Peripheral Neuroectodermal Tumors|Peripheral Primitive Neuroectodermal Neoplasm|Peripheral Primitive Neuroectodermal Tumors|(pPNET) Peripheral Primitive Neuroectodermal Tumors|Primitive Neuroectodermal Tumor, Extracranial|Tumor, Peripheral Neuroectodermal|Tumors, Peripheral Neuroectodermal
D019575||Blindness, Cortical|Anton Babinski Syndrome|Anton-Babinski Syndrome|Anton&apos;s Syndrome|Antons Syndrome|Anton&apos;s Syndrome, Transient|Anton Syndrome|Blindness, Cortical, Post-Ictal|Blindness, Cortical, Transient|Blindnesses, Reversible Cortical|Blindness, Reversible Cortical|Cortical Blindness|Cortical Blindnesses, Reversible|Cortical Blindness, Reversible|Psychic Denial of Blindness|Reversible Cortical Blindness|Reversible Cortical Blindnesses|Syndrome, Anton|Syndrome, Anton-Babinski|Syndrome, Anton&apos;s|Syndrome, Transient Anton&apos;s|Transient Anton&apos;s Syndrome|Transient Antons Syndrome|Transient Anton Syndrome
C564553|300245||Ptosis, Hereditary Congenital 2|PTOS2|Ptosis, X-Linked|PTOSX
D019574||Optic Nerve Neoplasms|Benign Optic Nerve Neoplasm|Benign Optic Nerve Sheath Neoplasms|Benign Optic Nerve Sheath Tumors|Benign Optic Nerve Tumor|Malignant Optic Nerve Neoplasm|Malignant Optic Nerve Sheath Neoplasms|Malignant Optic Nerve Sheath Tumors|Malignant Optic Nerve Tumor|Neoplasm, Benign, Optic Nerve|Neoplasm, Optic Nerve|Neoplasm, Optic Nerve, Benign|Neoplasms, Optic Nerve|Optic Nerve Neoplasm|Optic Nerve Neoplasm, Benign|Optic Nerve Sheath Neoplasm|Optic Nerve Sheath Neoplasms, Malignant|Optic Nerve Sheath Tumors|Optic Nerve Sheath Tumors, Benign|Optic Nerve Sheath Tumors, Malignant|Optic Nerve Tumor, Malignant|Tumor, Benign, Optic Nerve|Tumor, Malignant, Optic Nerve|Tumor, Optic Nerve, Benign|Tumor, Optic Nerve, Malignant
D018243||Teratocarcinoma|Teratocarcinomas
C563395||Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8|Neurosensory Nonsyndromic Recessive Deafness 8
C563359|601283||Diabetes Mellitus, Noninsulin-Dependent, 1|NIDDM1|Noninsulin-Dependent Diabetes Mellitus 1
D049310|160500||Distal Myopathies|ALS21|AMYOTROPHIC LATERAL SCLEROSIS 21|Distal 1 Myopathies|Distal 1 Myopathy|Distal Muscular Dystrophies|Distal Muscular Dystrophy|Distal Myopathy|Distal Myopathy 1|Distal Myopathy 1s|Distal Myopathy, Laing|Distal Myopathy Markesbery Griggs Type|Distal Myopathy Markesbery-Griggs Type|Distal Myopathy, Udd|Distal Myopathy, Welander|Finnish Markesbery Muscular Dystrophy|Finnish-Markesbery Muscular Dystrophy|Laing Distal Myopathy|Laing Early Onset Distal Myopathy|Laing Early-Onset Distal Myopathy|MPD1|MPD2, FORMERLY|MPD3|Muscular Dystrophies, Distal|Muscular Dystrophies, Tibial|Muscular Dystrophy, Distal|Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant|Muscular Dystrophy, Finnish-Markesbery|Muscular Dystrophy, Tibial|Muscular Dystrophy, Udd-Markesbery|Myopathies, Distal|Myopathies, Distal 1|Myopathy 1, Distal|Myopathy 1s, Distal|Myopathy, Distal|Myopathy, Distal 1|MYOPATHY, DISTAL, 1|MYOPATHY, DISTAL, 2, FORMERLY|MYOPATHY, DISTAL, 3|Myopathy, Distal, Early-Onset, Autosomal Dominant|Myopathy, Distal, Swedish|Myopathy, Laing Distal|Myopathy, Late Distal Hereditary|Myopathy, Udd|Myopathy, Udd Distal|Tardive Tibial Muscular Dystrophy|Tibial Muscular Dystrophy|Tibial Muscular Dystrophy, Tardive|TMD|Udd Distal Myopathy|Udd Markesbery Muscular Dystrophy|Udd-Markesbery Muscular Dystrophy|Udd Myopathy|VCPDM, FORMERLY|VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY|Welander Distal Myopathy
D019571||Arrhythmogenic Right Ventricular Dysplasia|Arrhythmogenic Right Ventricular Cardiomyopathy|Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia|Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia|Arrhythmogenic Right Ventricular Dysplasia-Cardiomyopathy|ARVD-C|Right Ventricular Dysplasia, Arrhythmogenic|Ventricular Dysplasia, Right, Arrhythmogenic
D018240||Endodermal Sinus Tumor|Endodermal Sinus Tumors|Tumor, Endodermal Sinus|Tumors, Endodermal Sinus|Tumors, Yolk Sac|Tumor, Yolk Sac|Yolk Sac Tumor|Yolk Sac Tumors
304340|C535773||Mental retardation, X-linked, syndromic 5|Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures|MENTAL RETARDATION, X-LINKED, SYNDROMIC 5|Mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|MRXS5|Pettigrew syndrome|PGS
D006259||Craniocerebral Trauma|Craniocerebral Injuries|Craniocerebral Injury|Craniocerebral Traumas|Crushing Skull Injuries|Crushing Skull Injury|Forehead Trauma|Forehead Traumas|Frontal Region Trauma|Frontal Region Traumas|Head Injuries|Head Injuries, Minor|Head Injuries, Multiple|Head Injuries, Open|Head Injuries, Superficial|Head Injury|Head Injury, Minor|Head Injury, Multiple|Head Injury, Open|Head Injury, Superficial|Head Trauma|Head Traumas|Injuries, Craniocerebral|Injuries, Head|Injuries, Minor Head|Injuries, Multiple Head|Injuries, Open Head|Injuries, Superficial Head|Injury, Craniocerebral|Injury, Head|Injury, Minor Head|Injury, Multiple Head|Injury, Open Head|Injury, Superficial Head|Minor Head Injuries|Minor Head Injury|Multiple Head Injuries|Multiple Head Injury|Occipital Region Trauma|Occipital Region Traumas|Occipital Trauma|Occipital Traumas|Open Head Injuries|Open Head Injury|Parietal Region Trauma|Parietal Region Traumas|Region Trauma, Frontal|Region Trauma, Occipital|Region Trauma, Parietal|Region Traumas, Frontal|Region Traumas, Occipital|Region Traumas, Parietal|Skull Injuries, Crushing|Skull Injury, Crushing|Superficial Head Injuries|Superficial Head Injury|Temporal Region Trauma|Temporal Region Traumas|Trauma, Craniocerebral|Trauma, Forehead|Trauma, Frontal Region|Trauma, Head|Trauma, Occipital|Trauma, Occipital Region|Trauma, Parietal Region|Traumas, Craniocerebral|Traumas, Forehead|Traumas, Frontal Region|Traumas, Head|Traumas, Occipital|Traumas, Occipital Region|Traumas, Parietal Region|Traumas, Temporal Region|Trauma, Temporal Region
D006258||Head and Neck Neoplasms|Cancer of Head|Cancer of Head and Neck|Cancer of Neck|Cancer of the Head|Cancer of the Head and Neck|Cancer of the Neck|Head and Neck Cancer|Head Cancer|Head, Neck Neoplasms|Head Neoplasms|Neck Cancer|Neck Neoplasms|Neoplasms, Head|Neoplasms, Head and Neck|Neoplasms, Neck|Neoplasms, UADT|Neoplasms, Upper Aerodigestive Tract|Neoplasm, UADT|UADT Neoplasm|UADT Neoplasms|Upper Aerodigestive Tract Neoplasms
D006255||Rhinitis, Allergic, Seasonal|Allergic Rhinitides, Seasonal|Allergic Rhinitis, Seasonal|Allergies, Pollen|Allergy, Pollen|Fever, Hay|Hayfever|Hay Fever|Pollen Allergies|Pollen Allergy|Pollinoses|Pollinosis|Rhinitides, Seasonal Allergic|Rhinitis, Seasonal Allergic|Seasonal Allergic Rhinitides|Seasonal Allergic Rhinitis
C537596|201470||Short chain Acyl CoA dehydrogenase deficiency|ACADSD|Acads Deficiency|Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of|Deficiency of Butyryl-Coa Dehydrogenase|Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency|Scad Deficiency|Scadh Deficiency|Short-Chain Acyl-Coa Dehydrogenase Deficiency|Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
D007593||Joint Instability|Hypermobilities, Joint|Hypermobility, Joint|Instabilities, Joint|Instability, Joint|Joint Hypermobilities|Joint Hypermobility|Joint Instabilities|Joint Laxities|Joint Laxity|Laxities, Joint|Laxity, Joint
D057885||Triploidy|Triploid|Triploidies|Triploids
D007594||Joint Loose Bodies|Joint Loose Body|Loose Bodies, Joint|Loose Body, Joint
121900|C537304||Groenouw type I corneal dystrophy|CDGG1|Corneal dystrophy granular type|CORNEAL DYSTROPHY, GROENOUW TYPE I|Corneal dystrophy punctate or nodular|Corneal Dystrophy, Punctate or Nodular|GCD1|Granular Corneal Dystrophy, Type I
D007592||Joint Diseases|Disease, Joint|Diseases, Joint|Joint Disease
D006261||Headache|Bilateral Headache|Bilateral Headaches|Cephalalgia|Cephalalgias|Cephalgia|Cephalgias|Cephalodynia|Cephalodynias|Cranial Pain|Cranial Pains|Generalized Headache|Generalized Headaches|Headache, Bilateral|Headache, Generalized|Headache, Ocular|Headache, Orthostatic|Headache, Periorbital|Headache, Retro-Ocular|Headaches|Headaches, Bilateral|Headaches, Generalized|Headache, Sharp|Headaches, Ocular|Headaches, Orthostatic|Headaches, Periorbital|Headaches, Retro-Ocular|Headaches, Sharp|Headaches, Throbbing|Headaches, Unilateral|Headaches, Vertex|Headache, Throbbing|Headache, Unilateral|Headache, Vertex|Head Pain|Head Pains|Hemicrania|Ocular Headache|Ocular Headaches|Orthostatic Headache|Orthostatic Headaches|Pain, Cranial|Pain, Head|Pains, Cranial|Pains, Head|Periorbital Headache|Periorbital Headaches|Retro Ocular Headache|Retro-Ocular Headache|Retro-Ocular Headaches|Sharp Headache|Sharp Headaches|Throbbing Headache|Throbbing Headaches|Unilateral Headache|Unilateral Headaches|Vertex Headache|Vertex Headaches
125310|D046589||CADASIL|CADASILM|CASIL|CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY|Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy|Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy|Dementia, Hereditary Multi Infarct Type|Dementia, Hereditary Multi-Infarct Type
D018239||Seminoma|Seminomas
243800|C535880||Johanson Blizzard syndrome|Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency|JBS|Johanson-Blizzard Syndrome|Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia|Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness|Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness
D019569||Hemifacial Spasm|Facial Spasms, Unilateral|Facial Spasm, Unilateral|Hemifacial Myokymia|Hemifacial Spasms|Myokymia, Hemifacial|Spasm, Hemifacial|Spasms, Hemifacial|Spasms, Unilateral Facial|Spasm, Unilateral Facial|Unilateral Facial Spasm|Unilateral Facial Spasms
D018238||Gonadoblastoma|Gonadoblastomas
C566545|602459||Deafness, Autosomal Dominant 15|DFNA15
D018235||Smooth Muscle Tumor|Muscle Tumor, Smooth|Muscle Tumors, Smooth|Smooth Muscle Tumors|Tumor, Smooth Muscle|Tumors, Smooth Muscle
D057887||Overbite|Bite, Deep|Bites, Deep|Deep Bite|Deep-Bite|Deep Bites|Deep-Bites|Dental Overjet|Dental Overjets|Incisor Protrusion|Incisor Protrusions|Overbites|Overjet, Dental|Overjets, Dental|Protrusion, Incisor|Protrusions, Incisor
D019568||Lung, Hyperlucent|Hyperlucent Lung|Hyperlucent Lungs|Hyperlucent Lungs, Unilateral|Hyperlucent Lung, Unilateral|Hyperlucent Thorax|Lungs, Hyperlucent|Lungs, Unilateral Hyperlucent|Lung, Unilateral Hyperlucent|MacLeod Syndrome|Swyer James Syndrome|Swyer-James Syndrome|Syndrome, MacLeod|Syndrome, Swyer-James|Thorax, Hyperlucent|Unilateral Hyperlucent Lung|Unilateral Hyperlucent Lungs
D018237||Germinoma|Germinomas
D019567||Back Injuries|Back Injury|Injuries, Back|Injury, Back
D018236||Carcinoma, Embryonal|Carcinomas, Embryonal|Embryonal Carcinoma|Embryonal Carcinomas
D044584||Carcinoma, Ductal|Carcinomas, Ductal|Ductal Carcinoma|Ductal Carcinomas
C537077||Febrile Ulceronecrotic Mucha-Habermann disease|Ulceronecrotic Mucha-Habermann disease
188470|C572845||Thyroid cancer, follicular|FTC|THYROID CARCINOMA, FOLLICULAR
D018211||Chondrosarcoma, Mesenchymal|Chondrosarcomas, Mesenchymal|Mesenchymal Chondrosarcoma|Mesenchymal Chondrosarcomas
C565725|609741||Cataract, Congenital Nuclear, Autosomal Recessive 2|CATARACT 22|CATARACT 22, NUCLEAR|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2|CATCN2|CTRCT22
D018210||Chondromatosis|Chondromatoses
C537076||Faye-Petersen Ward Carey syndrome
242860||IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1|CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME|CIID|ICF1|IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16|IMMUNODEFICIENCY SYNDROME, VARIABLE
D021865||Isosporiasis|Isosporiases
C565199|610685||Split-Hand/Foot Malformation With Long Bone Deficiency 2|SHFLD2
C563368||Craniosynostosis, Philadelphia Type
D021866||Cyclosporiasis|Cyclosporiases
C564698||Episodic Ataxia, Type 4|Ataxia, Periodic Vestibulocerebellar|Periodic Vestibulocerebellar Ataxia
D006228||Hand Deformities, Congenital|Congenital Hand Deformities|Congenital Hand Deformity|Deformities, Congenital Hand|Deformity, Congenital Hand|Hand Deformity, Congenital
D006229||Hand Dermatoses|Dermatoses, Hand|Dermatosis, Hand|Hand Dermatosis
D006226||Hand Deformities|Deformities, Hand|Deformity, Hand|Hand Deformity
D006227||Hand Deformities, Acquired|Acquired Hand Deformities|Acquired Hand Deformity|Deformities, Acquired Hand|Deformity, Acquired Hand|Hand Deformity, Acquired
C535478|136800||Corneal dystrophy, Fuchs&apos; endothelial, 1|Corneal Dystrophy, Fuchs Endothelial, 1|Corneal dystrophy, Fuchs&apos; endothelial, early-onset|Corneal Dystrophy, Fuchs Endothelial, Early-Onset|Dystrophia epithelialis corneae|FECD1|Fuchs&apos; dystrophy|Fuchs&apos; endothelial corneal dystrophy, early-onset
C537074||Fara Chlupackova syndrome|Familial oto-facio-cervical dysmorphia
D006222||Hamartoma|Hamartomas
C537071||Follicular hamartoma alopecia cystic fibrosis|Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis
D003394|123500||Craniofacial Dysostosis|CFD1|Craniofacial Dysarthrosis|Craniofacial Dysostoses|Craniofacial Dysostosis, Crouzon|Craniofacial Dysostosis Syndrome|Craniofacial Dysostosis Type 1|Craniofacial Dysostosis, Type 1; CFD1|Craniofacial Dysostosis, Type I|Crouzon Craniofacial Dysostosis|Crouzon Disease|Crouzon&apos;s Disease|Crouzons Disease|Crouzon Syndrome|Disease, Crouzon|Disease, Crouzon&apos;s|Dysostoses, Craniofacial|Dysostosis, Craniofacial|Dysostosis, Crouzon Craniofacial|Syndrome, Crouzon
C537072||Nonpuerperal galactorrhea|Ahumada-Del Castillo syndrome|Amenorrhea-Galactorrhea-FSH Decrease Syndrome|Amenorrhea-galactorrhea, nonpuerperal|Amenorrhea-Galactorrhea Syndrome|Argonz-Ahumada-Del Castillo syndrome|Argonz-Del Castillo Syndrome|Forbes Albright syndrome|Galactorrhea-amenorrhea syndrome|Galactorrhea-Amenorrhea without Pregnancy|Nonpuerperal Galactorrhea-Amenorrhea
D006232||Hand, Foot and Mouth Disease|Hand, Foot, Mouth Disease
D057896||Striae Distensae|Distensae, Striae|Marks, Stretch|Mark, Stretch|Stretch Mark|Stretch Marks
D006230||Hand Injuries|Hand Injury|Injuries, Hand|Injury, Hand
D018209||Myelolipoma|Myelolipomas
C563437|600852||Retinitis Pigmentosa 17|RP17
612287||NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2|NPHLOP2
612286||NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1|NPHLOP1
D057891||Tetraploidy|Tetraploid|Tetraploidies|Tetraploids
D018206||Angiolipoma|Angiolipomas
D018205||Neoplasms, Adipose Tissue|Adipose Tissue Neoplasm|Adipose Tissue Neoplasms|Neoplasm, Adipose Tissue
D018207||Angiomyolipoma|Angiomyolipomas
612281||ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6|ARCI6|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED
D018202||Pulmonary Blastoma|Blastoma, Pulmonary|Blastomas, Pulmonary|Pulmonary Blastomas
C567834|612976||Presbycusis 2|Age-Related Hearing Impairment 2|ARHI2|PRESBYCUSIS 2
D018201||Nephroma, Mesoblastic|Congenital Mesoblastic Nephroma|Congenital Mesoblastic Nephromas|Mesoblastic Nephroma|Mesoblastic Nephroma, Congenital|Mesoblastic Nephromas, Congenital|Nephroma, Congenital Mesoblastic|Nephromas, Congenital Mesoblastic|Nephromas, Mesoblastic
D018204||Neoplasms, Connective and Soft Tissue|Connective and Soft Tissue Neoplasms
C563370||Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
D019534||Shoulder Impingement Syndrome|Impingement Syndrome, Shoulder|Impingement Syndromes, Shoulder|Impingement Syndromes, Subacromial|Impingement Syndrome, Subacromial|Shoulder Impingement Syndromes|Subacromial Impingement Syndrome|Subacromial Impingement Syndromes|Syndrome, Shoulder Impingement|Syndromes, Shoulder Impingement|Syndromes, Subacromial Impingement|Syndrome, Subacromial Impingement
D018203||Sarcoma, Endometrial Stromal|Endometrial Stromal Sarcoma|Endometrial Stromal Sarcomas|Sarcomas, Endometrial Stromal|Stromal Sarcoma, Endometrial|Stromal Sarcomas, Endometrial
D018220||Fibroma, Desmoplastic|Desmoplastic Fibroma|Desmoplastic Fibromas|Fibromas, Desmoplastic
D019553||Tooth, Nonvital|Devitalized Teeth|Devitalized Tooth|Endodontically-Treated Teeth|Endodontically-Treated Tooth|Nonvital Teeth|Nonvital Tooth|Pulpless Teeth|Pulpless Tooth|Teeth, Devitalized|Teeth, Endodontically Treated|Teeth, Endodontically-Treated|Teeth, Nonvital|Teeth, Pulpless|Tooth, Devitalized|Tooth, Endodontically Treated|Tooth, Endodontically-Treated|Tooth, Pulpless
D018222||Fibromatosis, Aggressive|Aggressive Fibromatoses|Aggressive Fibromatosis|Desmoid|Desmoids|Fibromatoses, Aggressive
C563374||Hypocalcemia, Autosomal Dominant, with Bartter Syndrome
C537086||Brachydactylous dwarfism Mseleni type|Brachydactylous dwarfs of Mseleni
D018221||Fibromatosis, Abdominal|Abdominal Fibromatoses|Abdominal Fibromatosis|Fibromatoses, Abdominal
C563373||Hypercalciuric Hypercalcemia
C537087||Brachydactyly preaxial with hallux varus and thumb abduction|Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction|Christian Brachydactyly|Dominant preaxial brachydactyly with hallux varus and thumb abduction
C563378||Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
D020526||Brain Stem Infarctions|Benedict Syndrome|Brainstem Infarction|Brain Stem Infarction|Brainstem Infarctions|Brainstem Stroke|Claude Syndrome|Foville Syndrome|Infarction, Brainstem|Infarction, Brain Stem|Infarctions, Brainstem|Infarctions, Brain Stem|Millard Gublar Syndrome|Millard-Gublar Syndrome|Stroke, Brainstem|Syndrome, Millard-Gublar|Top of the Basilar Syndrome|Weber Syndrome
C536338|175850||Porokeratosis punctata palmaris et plantaris|Keratoderma, Palmoplantar, Punctate Type Ii|POROK2|POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE|POROKERATOSIS PALMARIS ET PLANTARIS DISSEMINATA|POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED|POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1|POROKERATOSIS PLANTARIS PALMARIS ET DISSEMINATA|PPPD|PPPD1
C537080||Baritosis|Deposition of barium in the lungs|Inhalation of barytes
D007569||Jaw Abnormalities|Abnormalities, Jaw|Abnormality, Jaw|Jaw Abnormality
D020522||Lymphoma, Mantle-Cell|Centrocytic Small-Cell Lymphoma|Centrocytic Small-Cell Lymphomas|Diffuse Lymphocytic Lymphoma, Poorly Differentiated|Diffuse Lymphocytic Lymphoma, Poorly-Differentiated|Lymphocytic Lymphoma, Diffuse, Poorly Differentiated|Lymphocytic Lymphoma, Diffuse, Poorly-Differentiated|Lymphoma, Centrocytic Small Cell|Lymphoma, Centrocytic Small-Cell|Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated|Lymphoma, Lymphocytic, Diffuse, Poorly-Differentiated|Lymphoma, Lymphocytic, Intermediate|Lymphoma, Mantle Cell|Lymphoma, Mantle-Zone|Lymphomas, Centrocytic Small-Cell|Lymphoma, Small-Cell, Centrocytic|Lymphomas, Mantle-Cell|Lymphomas, Mantle-Zone|Mantle Cell Lymphoma|Mantle-Cell Lymphoma|Mantle-Cell Lymphomas|Mantle Zone Lymphoma|Mantle-Zone Lymphoma|Mantle-Zone Lymphomas|Small-Cell Lymphoma, Centrocytic|Small-Cell Lymphomas, Centrocytic
C537084||Brachioskeletogenital syndrome
D007567||Jaundice, Neonatal|Icterus Gravis Neonatorum|Jaundice, Physiological Neonatal|Neonatal Jaundice|Neonatal Jaundice, Physiological|Physiological Neonatal Jaundice|Severe Jaundice in Neonate|Severe Jaundice in Newborn
C537085||Brachycephalofrontonasal dysplasia|Hypertelorism, Teebi type|Teebi hypertelorism syndrome
D020520||Brain Infarction|Anterior Cerebral Circulation Infarction|Anterior Circulation Brain Infarction|Anterior Circulation Infarction, Brain|Brain Infarction, Anterior Circulation|Brain Infarction, Posterior Circulation|Brain Infarctions|Brain Infarctions, Venous|Brain Infarction, Venous|Brain Venous Infarction|Brain Venous Infarctions|Infarction, Anterior Cerebral Circulation|Infarction, Anterior Circulation, Brain|Infarction, Brain|Infarction, Brain, Anterior Circulation|Infarction, Brain, Posterior Circulation|Infarction, Brain Venous|Infarction, Posterior Circulation, Brain|Infarctions, Brain|Infarctions, Brain Venous|Infarctions, Venous Brain|Infarction, Venous Brain|Posterior Circulation Brain Infarction|Posterior Circulation Infarction, Brain|Venous Brain Infarction|Venous Brain Infarctions|Venous Infarction, Brain|Venous Infarctions, Brain
C537082||Weismann Netter syndrome|Anterior bowing of legs with dwarfism|Bowing of legs, anterior, with dwarfism|Toxopachyosteose diaphysaire tibio-peroniere|Toxopachyosteosis|Toxopachyoteose diaphysaire tibio peroniere|Weismann Netter Stuhl syndrome|Weismann-Netter Syndrome
D007565||Jaundice|Hemolytic Jaundice|Hemolytic Jaundices|Icterus|Jaundice, Hemolytic|Jaundices, Hemolytic
607487|C564388||Cardiomyopathy, Dilated, 1N|CMD1N
C537083||Boylan Dew Greco syndrome|Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita
D007573||Jaw Neoplasms|Cancer, Jaw|Cancer of Jaw|Cancer of the Jaw|Cancers, Jaw|Jaw Cancer|Jaw Cancers|Jaw Neoplasm|Neoplasm, Jaw|Neoplasms, Jaw
D007571||Jaw Diseases|Disease, Jaw|Diseases, Jaw|Jaw Disease
D007572||Jaw Fractures|Fracture, Jaw|Fractures, Jaw|Jaw Fracture
D007570||Jaw Cysts|Cyst, Jaw|Cysts, Jaw|Jaw Cyst
D020529||Multiple Sclerosis, Relapsing-Remitting|Acute Relapsing Multiple Sclerosis|Multiple Sclerosis, Acute Relapsing|Multiple Sclerosis, Relapsing Remitting|Multiple Sclerosis, Remitting-Relapsing|Relapsing Remitting Multiple Sclerosis|Relapsing-Remitting Multiple Sclerosis|Remitting Relapsing Multiple Sclerosis|Remitting-Relapsing Multiple Sclerosis
D020528||Multiple Sclerosis, Chronic Progressive|Chronic Progressive Multiple Sclerosis|Multiple Sclerosis, Primary Progressive|Multiple Sclerosis, Progressive Relapsing|Multiple Sclerosis, Remittent Progressive|Multiple Sclerosis, Secondary Progressive|Primary Progressive Multiple Sclerosis|Progressive Relapsing Multiple Sclerosis|Remittent Progressive Multiple Sclerosis|Secondary Progressive Multiple Sclerosis
300514|C564497||Fanconi Anemia, Complementation Group B|FA2|FACB|FANCB|Fanconi Pancytopenia, Type 2
D018217||Osteosarcoma, Juxtacortical|Juxtacortical Osteosarcoma|Juxtacortical Osteosarcomas|Osteosarcomas, Juxtacortical
D019547||Neck Pain|Ache, Neck|Aches, Neck|Anterior Cervical Pain|Anterior Cervical Pains|Anterior Neck Pain|Anterior Neck Pains|Cervicalgia|Cervicalgias|Cervical Pain|Cervical Pain, Anterior|Cervical Pain, Posterior|Cervical Pains|Cervical Pains, Anterior|Cervical Pains, Posterior|Cervicodynia|Cervicodynias|Neckache|Neck Ache|Neckaches|Neck Aches|Neck Pain, Anterior|Neck Pain, Posterior|Neck Pains|Neck Pains, Anterior|Neck Pains, Posterior|Pain, Anterior Cervical|Pain, Anterior Neck|Pain, Cervical|Pain, Neck|Pain, Posterior Cervical|Pain, Posterior Neck|Pains, Anterior Cervical|Pains, Anterior Neck|Pains, Cervical|Pains, Neck|Pains, Posterior Cervical|Pains, Posterior Neck|Posterior Cervical Pain|Posterior Cervical Pains|Posterior Neck Pain|Posterior Neck Pains
D005776|230800||Gaucher Disease|Acid beta-Glucosidase Deficiency|Acid beta-Glucosidase Deficiency Disease|Acute Neuronopathic Gaucher Disease|Cerebroside Lipidoses, Glucosyl|Cerebroside Lipidosis, Glucosyl|Cerebroside Lipidosis Syndrome|Cerebroside Lipidosis Syndromes|Chronic Gaucher Disease|Deficiencies, GBA|Deficiencies, Glucocerebrosidase|Deficiency Disease, Glucocerebrosidase|Deficiency Diseases, Glucocerebrosidase|Deficiency, GBA|Deficiency, Glucocerebrosidase|Disease, Chronic Gaucher|Disease, Gaucher|Disease, Gauchers|Disease, Gaucher&apos;s|Disease, Glucocerebrosidase Deficiency|Disease, Infantile Gaucher|Disease, Juvenile Gaucher|Disease, Neuronopathic Gaucher|Disease, Non-Neuronopathic Gaucher|Diseases, Gauchers|Diseases, Glucocerebrosidase Deficiency|Gaucher Disease, Acute Neuronopathic|Gaucher Disease, Acute Neuronopathic Type|Gaucher Disease, Chronic|Gaucher Disease, Chronic Neuronopathic Type|Gaucher Disease, Infantile|Gaucher Disease, Infantile Cerebral|Gaucher Disease, Juvenile|Gaucher Disease, Juvenile and Adult, Cerebral|GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL GAUCHER DISEASE, TYPE IIIA, INCLUDED|Gaucher Disease, Neuronopathic|Gaucher Disease, Noncerebral Juvenile|Gaucher Disease, Non-Neuronopathic|Gaucher Disease, Non Neuronopathic Form|Gaucher Disease, Non-Neuronopathic Form|GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED|Gaucher Disease, Subacute Neuronopathic Form|Gaucher Disease, Subacute Neuronopathic Type|Gaucher Disease Type 1|Gaucher Disease, Type 1|Gaucher Disease Type 2|Gaucher Disease, Type 2|Gaucher Disease Type 3|Gaucher Disease, Type 3|Gaucher Disease, Type I|Gaucher Disease, Type II|Gaucher Disease, Type III|GAUCHER DISEASE, TYPE IIIB, INCLUDED|Gaucher&apos;s Disease|Gauchers Disease|Gauchers Diseases|Gaucher Splenomegaly|Gaucher Syndrome|GBA Deficiencies|GBA Deficiency|GD I|GD II|GD III|Glucocerebrosidase Deficiencies|Glucocerebrosidase Deficiency|Glucocerebrosidase Deficiency Disease|Glucocerebrosidase Deficiency Diseases|Glucocerebrosidoses|Glucocerebrosidosis|Glucosylceramidase Deficiency|Glucosylceramide Beta-Glucosidase Deficiency|Glucosylceramide Beta-Glucosidase Deficiency Disease|Glucosylceramide Lipidoses|Glucosylceramide Lipidosis|Glucosyl Cerebroside Lipidoses|Glucosyl Cerebroside Lipidosis|Histiocytoses, Kerasin|Histiocytoses, Lipoid (Kerasin Type)|Histiocytosis, Kerasin|Histiocytosis, Lipoid (Kerasin Type)|Infantile Gaucher Disease|Juvenile Gaucher Disease|Kerasin Histiocytoses|Kerasin Histiocytosis|Kerasin Lipoidoses|Kerasin Lipoidosis|Kerasin thesaurismoses|Kerasin thesaurismosis|Lipidoses, Glucosylceramide|Lipidoses, Glucosyl Cerebroside|Lipidosis, Glucosylceramide|Lipidosis, Glucosyl Cerebroside|Lipidosis Syndrome, Cerebroside|Lipidosis Syndromes, Cerebroside|Lipoid Histiocytoses (Kerasin Type)|Lipoid Histiocytosis (Kerasin Type)|Lipoidoses, Kerasin|Lipoidosis, Kerasin|Neuronopathic Gaucher Disease|Non Neuronopathic Gaucher Disease|Non-Neuronopathic Gaucher Disease|Splenomegaly, Gaucher|Subacute Neuronopathic Gaucher Disease|Syndrome, Cerebroside Lipidosis|Syndrome, Gaucher|Syndromes, Cerebroside Lipidosis|thesaurismoses, Kerasin|thesaurismosis, Kerasin|Type 1 Gaucher Disease|Type 2 Gaucher Disease|Type 3 Gaucher Disease
D018216||Osteochondromatosis|Osteochondromatoses
D018219||Histiocytoma, Benign Fibrous|Angioma, Sclerosing|Angiomas, Sclerosing|Benign Fibrous Histiocytoma|Benign Fibrous Histiocytomas|Cutaneous Histiocytoma|Cutaneous Histiocytomas|Dermatofibroma|Dermatofibromas|Fibrous Histiocytoma|Fibrous Histiocytoma, Benign|Fibrous Histiocytomas|Fibrous Histiocytomas, Benign|Hemangioma, Sclerosing|Hemangiomas, Sclerosing|Histiocytoma, Cutaneous|Histiocytoma, Fibrous|Histiocytomas, Benign Fibrous|Histiocytomas, Cutaneous|Histiocytomas, Fibrous|Sclerosing Angioma|Sclerosing Angiomas|Sclerosing Hemangioma|Sclerosing Hemangiomas
D018218||Neoplasms, Fibrous Tissue|Fibrous Tissue Neoplasm|Fibrous Tissue Neoplasms|Neoplasm, Fibrous Tissue
D018213||Neoplasms, Bone Tissue|Bone Tissue Neoplasm|Bone Tissue Neoplasms|Bony Tissue Neoplasm|Bony Tissue Neoplasms|Neoplasm, Bone Tissue|Neoplasm, Bony Tissue|Neoplasms, Bony Tissue|Tissue Neoplasm, Bone|Tissue Neoplasm, Bony|Tissue Neoplasms, Bone|Tissue Neoplasms, Bony
C563383||Lissencephaly Type III and Bone Dysplasia
D018212||Giant Cell Tumor of Bone
C563382||Trisomy 18-Like Syndrome
D018215||Osteoblastoma|Giant Osteoid Osteoma|Giant Osteoid Osteomas|Osteoblastomas|Osteoid Osteoma, Giant|Osteoid Osteomas, Giant|Osteoma, Giant Osteoid|Osteomas, Giant Osteoid
612539|C567262||Spastic Paraplegia 42, Autosomal Dominant|SPG42
D018214||Fibroma, Ossifying|Fibromas, Ossifying|Ossifying Fibroma|Ossifying Fibromas
C563380||Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
C537099||Brachyolmia, recessive Hobaek type|Brachyolmia, Recessive Type Of Hobaek|Brachyolmia Type 1, Hobaek Type|Spondylodysplasia with pure brachyolmia
C563342||Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
C563341||Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
C537097||Brachymesophalangy 2 and 5|Brachydactyly Temtamy type|Brachydactyly, type A4|Brachymesophalangy II And V|Temtamy type brachydactyly
C563817|607554||Atrial Fibrillation, Familial, 3|ATFB3
C537098||Brachyolmia
C563347||Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
C563346||Martinez-Frias Syndrome|Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia|Martinez Frias syndrome|Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula
C564676||Dyskinesia, Familial, with Facial Myokymia
C563345||Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
D006209||Halitosis|Halitoses
C563344||Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
C537091||Brachydactyly type A5 nail dysplasia|Absent middle phalanges of digits 2-5 with nail dysplasia|Brachydactyly, Type A5, With Nail Dysplasia
D020514||Hypokalemic Periodic Paralysis|Familial Hypokalemic Periodic Paralysis|HOKPP|Hypokalemic Periodic Paralysis, Familial|HYPOKPP|HYPOPP|Paralysis, Hypokalemic Periodic|Periodic Paralysis Hypokalemic|Periodic Paralysis- Hypokalemic|Periodic Paralysis, Hypokalemic|Periodic Paralysis- Hypokalemics|Primary Hypokalemic Periodic Paralysis|Westphall Disease
C537092||Brachydactyly type A6|Brachydactyly, Type A6|Osebold-Remondini syndrome
C563349||Atrophia Maculosa Varioliformis Cutis, Familial|Varioliform Macular Atrophy of the Skin
C563348||Spinal Dysplasia, Anhalt Type
C537090||Brachydactyly type A3|Brachydactyly-clinodactyly|Brachydactyly, Type A3|Brachymesophalangy 5|Brachymesophalangy V
D008865||Microstomia|Microstomias
D020511||Neuromuscular Junction Diseases|Neuromuscular Junction Disease|Neuromuscular Junction Disorder|Neuromuscular Junction Disorders|Neuromuscular Junction Toxic Disorders|Neuromuscular Transmission Disorder|Neuromuscular Transmission Disorders|Toxic Disorders, Neuromuscular Junction
C563839|608890||Waardenburg Syndrome, Type 2D|Waardenburg Syndrome, Type IID|WS2D
277480|D056729||von Willebrand Disease, Type 3|3 VWD, Type|Type 3 Von Willebrand&apos;s Disease|Type 3 VWD|Von Willebrand Disease, Severe Form|VON WILLEBRAND DISEASE, TYPE III|VWD3|VWD, TYPE 3
C537096||Brachymesomelia renal syndrome|Brachymesomelia-renal syndrome|Langer Nishino Yamaguchi syndrome
D006201||Hair Diseases|Hair Disease
C537094||Brachydactyly types B and E combined|Brachydactyly Ballard type|Brachydactyly, Ballard Type|Brachydactyly, combined B and E types|Pitt Williams brachydactyly|Pitt-Williams Brachydactyly
132400|C535501||Epiphyseal dysplasia, multiple, 1|EDM1|EPIPHYSEAL DYSPLASIA, RIBBING TYPE, INCLUDED|Multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related|Multiple epiphyseal dysplasia, COMP-related|MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED
D056586||Acute Chest Syndrome|Acute Chest Syndromes|Syndrome, Acute Chest|Syndromes, Acute Chest
D020518||Focal Nodular Hyperplasia|Focal Nodular Hyperplasias|Hyperplasia, Focal Nodular|Hyperplasias, Focal Nodular
C536607|601003||Brody myopathy|Autosomal recessive Brody myopathy|Brody Disease
D020516||Brachial Plexus Neuropathies|Brachial Plexopathy|Brachial Plexus Disease|Brachial Plexus Diseases|Brachial Plexus Disorder|Brachial Plexus Disorders|Brachial Plexus Neuropathy|Dejerine Klumpke Palsy|Dejerine-Klumpke Palsy|Erb-Duchenne Paralyses|Erb Duchenne Paralysis|Erb-Duchenne Paralysis|Erb Palsy|Erb Paralyses|Erb Paralysis|Erb&apos;s Palsies|Erb&apos;s Palsy|Erbs Palsy|Klumpke Palsy|Klumpke Paralysis|Klumpke&apos;s Palsy|Klumpkes Palsy|Lower Brachial Plexus Neuropathy|Lower Brachial Plexus Palsy|Middle Brachial Plexus Neuropathy|Neuropathies, Brachial Plexus|Neuropathy, Brachial Plexus|Palsies, Erb&apos;s|Palsy, Dejerine-Klumpke|Palsy, Erb&apos;s|Palsy, Klumpke&apos;s|Paralyses, Erb|Paralyses, Erb-Duchenne|Paralysis, Erb|Paralysis, Erb-Duchenne|Paralysis, Klumpke|Paralysis of the Lower Brachial Plexus|Plexopathies, Brachial|Plexopathy, Brachial|Plexus Disease, Brachial|Plexus Diseases, Brachial|Plexus Disorder, Brachial|Plexus Disorders, Brachial|Plexus Neuropathies, Brachial|Plexus Neuropathy, Brachial|Upper Brachial Plexus Neuropathy
612263||MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7|CMM7
C536761|300751||X-linked sideroblastic anemia|Anemia, Hereditary Sideroblastic|ANEMIA, HYPOCHROMIC|Anemia, Sex-Linked Hypochromic Sideroblastic|Anemia, Sideroblastic, X-Linked|ANH1|Congenital Sideroblastic Anaemia|Erythroid 5-Aminolevulinate Synthase Deficiency|Hereditary Iron-Loading Anemia|X Chromosome-Linked Sideroblastic Anemia|X-Linked Pyridoxine-Responsive Sideroblastic Anemia|XLSA
D003025|119800||Clubfoot|CCF|Clubfoot, Congenital|CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY|Congenital Talipes Equinovarus|Equinovarus|Pie Torcido|Pie Torcidos|Talipe|Talipes|Talipes Equinovarus|Talipes Equinovarus, Congenital
D019512||Pancreatitis, Alcoholic|Alcoholic Pancreatitis
C563977|600195||Venous Malformations, Multiple Cutaneous and Mucosal|Mucocutaneous Venous Malformations|Multiple Cutaneous and Mucosal Venous Malformations|VMCM|Vmcm1
C537932|609524||Filaminopathy, autosomal dominant|Filamin C-related myofibrillar myopathy|FILAMINOPATHY, AUTOSOMAL DOMINANT|MFM5|Mfm, Filamin C-Related|Myofibrillar myopathy, filamin C-related|MYOPATHY, MYOFIBRILLAR, 5|Myopathy, Myofibrillar, Filamin C-Related
D018200||Mixed Tumor, Mullerian|Mullerian Mixed Tumor|Tumor, Mullerian Mixed
C564689||Camurati-Engelmann Disease, Type II
C563358||Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related|Hereditary Hemorrhagic Telangiectasia-Related Pulmonary Arterial Hypertension
613581||RETINITIS PIGMENTOSA 56|MACULOPATHY, IMPG2-RELATED, INCLUDED|RP56
145700|C538389||Congenital hypertrichosis lanuginosa|Hypertrichosis lanuginosa congenita|Hypertrichosis lanuginosa universalis|Hypertrichosis universalis
613582||RETINITIS PIGMENTOSA 57|RP57
D008878||Middle Lobe Syndrome|Brock&apos;s Syndrome|Brocks Syndrome|Brock Syndrome|Syndrome, Brock&apos;s|Syndromes, Middle Lobe
D006215||Hallux Valgus|Bunion|Bunions|Hallux Abductovalgus|Metatarsus Primus Varus|Primus Varus, Metatarsus|Varus, Metatarsus Primus
D007644|101900||Darier Disease|Acantholytic Dyskeratotic Epidermal Nevi|Acantholytic Dyskeratotic Epidermal Nevus|Acrokeratosis Verruciformis|Acrokeratosis Verruciformis of Hopf|AKV|DAR|DARIER DISEASE;DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED|DARIER DISEASE, SEGMENTAL, INCLUDED|Darier&apos;s Disease|Dariers Disease|Darier White Disease|Darier-White Disease|Darier-White Diseases|Disease, Darier|Disease, Darier&apos;s|Disease, Darier-White|Disease, Hopf|Diseases, Darier-White|Diseases, Hopf|Hopf Acrokeratosis Verruciformis|Hopf Disease|Hopf Diseases|Keratosis Follicularis|Verruciformis, Acrokeratosis
613587||OCCULT MACULAR DYSTROPHY|OCMD|OMD
C567796|613064||Dermatitis, Atopic, 7|ATOD7
D006212||Hallucinations|Auditory Hallucination|Auditory Hallucinations|Auditory Hallucinations, Verbal|Auditory Hallucination, Verbal|Body Sensation Hallucination|Body Sensation Hallucinations|Dissociative Hallucination|Dissociative Hallucinations|Elementary Hallucination|Elementary Hallucinations|Gustatory Hallucination|Gustatory Hallucinations|Hallucination|Hallucination, Auditory|Hallucination, Dissociative|Hallucination, Elementary|Hallucination, Gustatory|Hallucination, Hypnagogic|Hallucination, Hypnapompic|Hallucination, Kinesthetic|Hallucination, Mood Congruent|Hallucination, Mood Incongruent|Hallucination of Body Sensation|Hallucination, Olfactory|Hallucination, Organic|Hallucination, Reflex|Hallucinations, Auditory|Hallucinations, Dissociative|Hallucinations, Elementary|Hallucination, Sensory|Hallucinations, Formed, of People|Hallucinations, Gustatory|Hallucinations, Hypnagogic|Hallucinations, Hypnapompic|Hallucinations, Internal Body Sensation|Hallucinations, Kinesthetic|Hallucinations, Mood Congruent|Hallucinations, Mood Incongruent|Hallucinations, Olfactory|Hallucination, Somatic|Hallucinations, Organic|Hallucinations, Reflex|Hallucinations, Sensory|Hallucinations, Somatic|Hallucinations, Tactile|Hallucinations, Verbal Auditory|Hallucinations, Visual|Hallucinations, Visual, Formed|Hallucinations, Visual, Unformed|Hallucination, Tactile|Hallucination, Verbal Auditory|Hallucination, Visual|Hypnagogic Hallucination|Hypnagogic Hallucinations|Hypnapompic Hallucination|Hypnapompic Hallucinations|Kinesthetic Hallucination|Kinesthetic Hallucinations|Mood Congruent Hallucination|Mood Congruent Hallucinations|Mood Incongruent Hallucination|Mood Incongruent Hallucinations|Olfactory Hallucination|Olfactory Hallucinations|Organic Hallucination|Organic Hallucinations|Reflex Hallucination|Reflex Hallucinations|Sensory Hallucination|Sensory Hallucinations|Somatic Hallucination|Somatic Hallucinations|Tactile Hallucination|Tactile Hallucinations|Verbal Auditory Hallucination|Verbal Auditory Hallucinations|Visual Hallucination|Visual Hallucinations
D008883||Miliaria|Heat, Prickly|Miliaria Rubra|Prickly Heat
D008882||Mikulicz&apos; Disease|Disease, Mikulicz|Disease, Mikulicz&apos;|Mikulicz Disease
D019522||Vaginal Discharge|Discharges, Vaginal|Discharge, Vaginal|Vaginal Discharges
C564691||Muscular Dystrophy, Congenital, 1C
C564690||Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects|Left Ventricular Noncompaction, Nonisolated|Left Ventricular Noncompaction with Congenital Heart Defects
C535554|605552||Abdominal obesity metabolic syndrome|Abdominal Obesity-Metabolic Syndrome|ABDOMINAL OBESITY-METABOLIC SYNDROME 1|AOMS1|METABOLIC SYNDROME, PROTECTION AGAINST, INCLUDED|METABOLIC SYNDROME X ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1, INCLUDED
C538350|161800||Nemaline myopathy 3|Myopathy, Actin, Congenital, With Cores|MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED|MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED|NEM3|Nemaline Myopathy 3, With Intranuclear Rods|NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED|Nemaline myopathy caused by mutation in the alpha-actin gene
C565984||Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency|Achondroplasia, So-Called, and Severe Combined Immunodeficiency
C538364||MacKay Shek Carr syndrome|Retinal degeneration, nanophthalmos, glaucoma|Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma
C537034||Long QT syndrome type 3
C537031||Littoral cell angioma of the spleen|Littoral cell angioma
C538362||Reticuloendotheliosis, X-linked|Reticuloendotheliosis
C564656||Digital Arthropathy-Brachydactyly, Familial
C538369||Retinoschisis of Fovea|Familial foveal retinoschisis|Foveal retinoschisis
C537037||Lowry Maclean syndrome|Lowry-Maclean Syndrome|Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure
D021821||Communicable Diseases, Emerging|Communicable Disease, Emerging|Communicable Disease, Reemerging|Communicable Disease, Re-Emerging|Communicable Diseases, Reemerging|Communicable Diseases, Re Emerging|Communicable Diseases, Re-Emerging|Disease, Emerging Communicable|Disease, Emerging Infectious|Disease, Reemerging Communicable|Disease, Re-Emerging Communicable|Disease, Reemerging Infectious|Disease, Re-Emerging Infectious|Diseases, Emerging Communicable|Diseases, Emerging Infectious|Diseases, Reemerging Communicable|Diseases, Re-Emerging Communicable|Diseases, Reemerging Infectious|Diseases, Re-Emerging Infectious|Emerging Communicable Disease|Emerging Communicable Diseases|Emerging Infectious Disease|Emerging Infectious Diseases|Infectious Disease, Emerging|Infectious Disease, Reemerging|Infectious Disease, Re-Emerging|Infectious Diseases, Emerging|Infectious Diseases, Reemerging|Infectious Diseases, Re Emerging|Infectious Diseases, Re-Emerging|Reemerging Communicable Disease|Re-Emerging Communicable Disease|Reemerging Communicable Diseases|Re-Emerging Communicable Diseases|Reemerging Infectious Disease|Re-Emerging Infectious Disease|Reemerging Infectious Diseases|Re-Emerging Infectious Diseases
C564655||Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
C537038||Lowry Wood syndrome|Epiphyseal dysplasia, microcephaly and nystagmus|Epiphyseal Dysplasia, Microcephaly, And Nystagmus|Lowry-Wood Syndrome
C564654||Cree Mental Retardation Syndrome
C538367||Mirhosseini-Holmes-Walton syndrome|Retinopathy, Pigmentary, And Mental Retardation|Retinopathy pigmentary mental retardation
C537036||Lopes Gorlin syndrome|Short tarsus absence of lower eyelashes|Short Tarsus with Absence of Lower Eyelashes
C563675|610361||Orofacial Cleft 9|Cleft Lip with or without Cleft Palate, Nonsyndromic, 9|OFC9
D007516||Adenoma, Islet Cell|Adenomas, Islet Cell|Island Cell Tumor|Island Cell Tumors|Islet Cell Adenoma|Islet Cell Adenomas|Islet Cell Tumor|Islet Cell Tumors|Nesidioblastoma|Tumor, Island Cell|Tumor, Islet Cell|Tumors, Island Cell|Tumors, Islet Cell
D008844||Micrognathism|Micrognathisms
C564657||Friedreich Ataxia with Retained Reflexes
D007511||Ischemia|Ischemias
C565988||Hyperzincemia and Hypercalprotectinemia
C565989||Xeroderma Pigmentosum, Autosomal Dominant, Mild
C538360||Restless legs syndrome 2|Autosomal dominant restless legs syndrome|Restless legs syndrome, autosomal dominant
C537030||Lipomyelomeningocele|Familial lipomyelomeningocele
C537257|235550||Hepatic venoocclusive disease with immunodeficiency|Familial Veno-Occlusive Disease with Immunodeficiency|Hepatic Veno-Occlusive Disease with Immunodeficiency|Veno-Occlusive Disease and Immunodeficiency Syndrome|VODI
D008850||Microphthalmos|Microphthalmia
226650|C562639||Epidermolysis Bullosa, Junctional, Non-Herlitz Type|EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN;GABEB EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED|EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE|Epidermolysis Bullosa Junctionalis, Non-Herlitz Type|EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE|EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL|Epidermolysis Bullosa, Junctional, Localisata Variant|JEB-I, INCLUDED|JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA, INCLUDED
278850||46,XX SEX REVERSAL 2|46,XX SEX REVERSAL, PARTIAL OR COMPLETE, SOX9-RELATED|CHROMOSOME 17q24 DUPLICATION SYNDROME|SRXX2
C565264|606056||Congenital Disorder Of Glycosylation, Type IIB|CDG2B|CDGIIB|CDG IIB|Glucosidase I Deficiency
C538359||RDS - infants
C537029||Lipomatous hemangiopericytoma
C537044||Albinism, minimal pigment type|Oculocutaneous albinism, minimal pigment type
C563331||Aprosencephaly and Cerebellar Dysgenesis
C537045||Albright&apos;s hereditary osteodystrophy|Albright hereditary osteodystrophy
C564661||Abducens Palsy
C563330||Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density
C564660||MOMES Syndrome|Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies
C537048||Allanson Pantzar McLeod syndrome|Primitive renal tubule syndrome|Renal tubular dysgenesis|Renotubular dysgenesis
D005633|229600||Fructose Intolerance|ALDOB Deficiencies|ALDOB Deficiency|Aldolase B Deficiencies|Aldolase B Deficiency|Aldolase Deficiencies, Fructose-1,6-Biphosphate|Aldolase Deficiencies, Fructose-1-Phosphate|Aldolase Deficiency, Fructose-1,6-Biphosphate|Aldolase Deficiency, Fructose-1-Phosphate|Deficiencies, ALDOB|Deficiencies, Aldolase B|Deficiencies, Fructose-1,6-Biphosphate Aldolase|Deficiencies, Fructose-1-Phosphate Aldolase|Deficiency, ALDOB|Deficiency, Aldolase B|Deficiency, Fructose-1,6-Biphosphate Aldolase|Deficiency, Fructose-1-Phosphate Aldolase|Fructose-1,6-Biphosphate Aldolase Deficiencies|Fructose 1,6 Biphosphate Aldolase Deficiency|Fructose-1,6-Biphosphate Aldolase Deficiency|Fructose 1,6 Bisphosphate Aldolase B Deficiency|Fructose-1,6-Bisphosphate Aldolase B Deficiency|Fructose-1-Phosphate Aldolase Deficiencies|Fructose 1 Phosphate Aldolase Deficiency|Fructose-1-Phosphate Aldolase Deficiency|Fructose Aldolase B Deficiency|Fructose Intolerance, Hereditary|Fructose Intolerances|Fructose Intolerances, Hereditary|Fructosemia|Fructosemias|Hereditary Fructose Intolerance|Hereditary Fructose Intolerances|Intolerance, Fructose|Intolerances, Fructose
C537049||Aloi Tomasini Isaia syndrome|Basal cell nevus, anodontia, abnormal bone mineralization
C565993||Vulvovaginitis, Allergic Seminal
C537046||Aldred syndrome|Nonspecific mental retardation associated with retinitis pigmentosa|X-linked mental handicap-retinitis pigmentosa syndrome
C563333||Cataract, Age-Related Nuclear|Nuclear Sclerosis of the Lens
C563339||Sebaceous Nevus Syndrome and Hemimegalencephaly
608631|D020817||Asperger Syndrome|Asperger Disease|Asperger Disorder|Asperger&apos;s Disease|Asperger&apos;s Disorder|Aspergers Disorder|Asperger&apos;s Syndrome|Aspergers Syndrome|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4|ASPG1|ASPG2|ASPG3|ASPG4
C564669||Lipodystrophy with Congenital Cataracts and Neurodegeneration
C563338||Amelia, Autosomal Recessive
611081|C567021||Inflammatory Bowel Disease 10|IBD10
C565999||Platelet Receptor for Collagen, Deficiency of
C538370||Retroperitoneal liposarcoma|Giant pelvic retroperitoneal liposarcoma|Pelvic retroperitoneal liposarcoma
610247|D057765||Eosinophilic Esophagitis|Chronic Esophagitides, Eosinophilic|Chronic Esophagitis, Eosinophilic|EE|EOE1|EOE2|Eosinophilic Chronic Esophagitides|Eosinophilic Chronic Esophagitis|Eosinophilic Esophagitides|Esophagitides, Eosinophilic|Esophagitides, Eosinophilic Chronic|Esophagitis, Eosinophilic|ESOPHAGITIS, EOSINOPHILIC, 1|ESOPHAGITIS, EOSINOPHILIC, 2|Esophagitis, Eosinophilic Chronic
C536961|176410||Familial Testotoxicosis|Familial Gonadotrophin-Independent Sexual Precocity|Familial Male-Limited Precocious Puberty|Gonadotrophin-Independent Precocious Puberty|Precocious Pseudopuberty|Precocious puberty, male limited|Precocious Puberty, Male-Limited|Pubertas Praecox|Sexual precocity, familial, gonadotropin-independent|Testotoxicosis|Testotoxicosis, Familial|TESTOTOXICOSIS, FAMILIAL LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY, INCLUDED
C537309|271250||Spinocerebellar ataxia, autosomal recessive 3|SCABD|SCAR3|Spinocerebellar ataxia with blindness and deafness
C536129|262300||Achromatopsia 3|ACHM1, FORMERLY|Achm3|ACHM 3|Achromatopsia with myopia|Pingelapese|Pingelapese Blindness|RMCH1, FORMERLY|ROD MONOCHROMACY 1, FORMERLY|ROD MONOCHROMATISM 1, FORMERLY|Total colorblindness with myopia
C537039||Lubani Al Saleh Teebi syndrome
C536014|200500||Acheiropodia|ACHEIROPODIA|Acheiropody|Acheiropody, Brazilian type|ACHP|Brazilian type acheiropody
C564679|606685||Cardiomyopathy, Dilated, 1l|CMD1L
D017825|271900||Canavan Disease|ACY2 Deficiency|Aminoacylase 2 Deficiency|ASPA Deficiency|Aspartoacylase Deficiency|ASP Deficiency|Canavan Disease, Familial Form|Canavan Disease, Infantile|Canavan Disease, Juvenile|Canavan Disease, Neonatal|Canavan Disease, Sporadic Form|Canavan Disease, Type I|Canavan Disease, Type II|Canavan Disease, Type III|Canavan van Bogaert Bertrand Disease|Canavan-van Bogaert-Bertrand Disease|Deficiency Disease, Aspartoacylase|Disease, Canavan|Disease, Canavan-van Bogaert-Bertrand|Disease, Von Bogaert-Bertrand|Familial Form of Canavan Disease|Infantile Canavan Disease|Juvenile Canavan Disease|Leukodystrophy, Spongiform|Neonatal Canavan Disease|Spongiform Leukodystrophy|Spongy Degeneration Of Central Nervous System|Spongy Degeneration of Infancy|Spongy Degeneration of the Brain|Spongy Degeneration of the Central Nervous System|Spongy Degeneration of White Matter In Infancy|Spongy Disease of Central Nervous System|Spongy Disease of White Matter|Sporadic Form of Canavan Disease|Syndrome, Van Bogaert-Bertrand|Type I Canavan Disease|Type II Canavan Disease|Type III Canavan Disease|Van Bogaert Bertrand Syndrome|Van Bogaert-Bertrand Syndrome|Von Bogaert Bertrand Disease|Von Bogaert-Bertrand Disease
D012090||Cumulative Trauma Disorders|Cumulative Trauma Disorder|Disorder, Cumulative Trauma|Disorder, Repetitive Motion|Disorders, Cumulative Trauma|Disorders, Repetitive Motion|Injuries, Overuse|Injuries, Repetition Strain|Injuries, Repetitive Strain|Injury, Overuse|Injury, Repetition Strain|Injury, Repetitive Strain|Motion Disorder, Repetitive|Motion Disorders, Repetitive|Overuse Injuries|Overuse Injury|Overuse Syndrome|Overuse Syndromes|Repetition Strain Injuries|Repetition Strain Injury|Repetitive Motion Disorder|Repetitive Motion Disorders|Repetitive Strain Injuries|Repetitive Strain Injury|Strain Injuries, Repetition|Strain Injuries, Repetitive|Strain Injury, Repetition|Strain Injury, Repetitive|Trauma Disorder, Cumulative|Trauma Disorders, Cumulative
C566339|603720||Deafness, Autosomal Recessive 16|DFNB16
C565963||Alpha-2-Deficient Collagen Disease|Meigel Disease
C538386||Hypertelorism and tetralogy of Fallot
C537056||Alopecia universalis onychodystrophy vitiligo|Alopecia universalis, onychodystrophy, and total vitiligo
C537053||Alopecia hypogonadism extrapyramidal disorder|Progressive extrapyramidal disorder with primary hypogonadism and alopecia
115470|C535918||Schmid-Fraccaro syndrome|Cat Eye syndrome|CES|Chromosome 22 partial tetrasomy|INV DUP(22)(Q11)|SCHMID-FRACCARO SYNDROME
C537059||Flat umbilicus familial|Flat umbilicus autosomal dominant|Flat Umbilicus, Autosomal Dominant|Umbilicus, Familial Flat
C563301||Peroxisome Biogenesis Disorder, Complementation Group 4|Peroxisome Biogenesis Disorder, Complementation Group 6|Peroxisome Biogenesis Disorder, Complementation Group C
C567358|612291||Joubert Syndrome 8|JBTS8
C565960||Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
C537057||Alopecia, epilepsy, pyorrhea, mental subnormality|Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea|Shokeir syndrome
225000|C563117||Rosselli-Gulienetti Syndrome
C562515|308050||Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects|CHILD Syndrome|Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity Of Limbs
C564631||Parkinson Disease 8
C537058||Fitzsimmons-McLachlan-Gilbert syndrome|Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
C564638||Hyperreninemic Hypoaldosteronism, Familial, 2
C563305||Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant
C537051||Alopecia contractures dwarfism mental retardation|ACD Mental Retardation Syndrome|Alopecia-contractures-dwarfism mental retardation syndrome
C538382||Hyperphenylalaninemia with primapterinuria|CADH Deficiency|HPABH4D|Hyperphenylalaninemia, BH4-Deficient, D|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency|PCBD Deficiency
C537052||Alopecia epilepsy oligophrenia syndrome of Moynahan|Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan|Moynahan alopecia syndrome
C563309||Facial Palsy, Congenital, Unilateral Or Bilateral
C565968||Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus|Stimmler Syndrome
C538381||Hyperostosis-hyperphosphatemia syndrome|Cortical hyperostosis with hyperphosphatemia|Hyperostosis with hyperphosphatemia
C537050||Alopecia congenita keratosis palmoplantaris|Alopecia congenita with hyperkeratosis of the palms and soles|Alopecia Congenita With Keratosis Palmoplantaris
C564858|266200||Pyruvate Kinase Deficiency of Red Cells|PK Deficiency|Pyruvate Kinase Deficiency|Pyruvate Kinase Deficiency of Erythrocyte
D012088||Reoviridae Infections|Infection, Reoviridae|Infection, Reovirus|Infections, Reoviridae|Infections, Reovirus|Reoviridae Infection|Reovirus Infection|Reovirus Infections
145981|C537146||Hypocalciuric hypercalcemia, familial, type 2|Familial benign hypercalcemia, type 2|Familial Benign Hypercalcemia, Type II|FBH2|HHC2|Hypercalcemia, familial benign type 2|Hypercalcemia, Familial Benign, Type II|Hypocalciuric Hypercalcemia, Familial, Type II
130070|C536201||Ehlers-Danlos syndrome, progeroid form|DERMATAN SULFATE PROTEOGLYCAN|EDSP1|EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1|Galactosyltransferase 1 deficiency|Galactosyltransferase I Deficiency|PDS, DEFECTIVE BIOSYNTHESIS OF|Progeroid variant of Ehlers-Danlos syndrome|Proteodermatan sulfate, defective biosynthesis of|XGPT DEFICIENCY|Xylosylprotein 4-beta-galactosyltransferase deficiency
C564641||Pulmonary Disease, Chronic Obstructive, Severe Early-Onset
C565973||Adrenocortical Carcinoma, Pediatric
C535544|147750||Oculootoradial syndrome|Instituto Venezolano de Investigaciones Cientificas syndrome|IVIC SYNDROME|OCULOOTORADIAL SYNDROME|OORS|Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
C537066||Flynn Aird syndrome|Flynn-Aird Syndrome
C538396||Lambert syndrome|Branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia
C537064||Florid cystic endosalpingiosis of the uterus|Cystic endosalpingiosis of the uterus
C565976||Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
C537065||FLOTCH syndrome|Friedel Heid Grosshans syndrome
C564645||Albinism, Oculocutaneous, Type I, Temperature-Sensitive|OCA1TS
108010|D002538||Intracranial Arteriovenous Malformations|Arteriovenous Malformation, Cerebral|Arteriovenous Malformation, Intracranial|Arteriovenous Malformations, Cerebral|Arteriovenous Malformations, Intracranial|ARTERIOVENOUS MALFORMATIONS OF THE BRAIN|AVM (Arteriovenous Malformation) Intracranial|BAVM|Cerebral Arteriovenous Malformation|Cerebral Arteriovenous Malformations|CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO, INCLUDED|Congenital Intracranial Arteriovenous Malformations|Intracranial Arteriovenous Malformation|Intracranial Arteriovenous Malformation, Ruptured|Intracranial Arteriovenous Malformations, Congenital|Malformation, Cerebral Arteriovenous|Malformation, Intracranial Arteriovenous|Malformations, Cerebral Arteriovenous|Malformations, Intracranial Arteriovenous|Ruptured Intracranial Arteriovenous Malformation
C565970||Hypodysfibrinogenemia, Congenital
C565971||Adrenocortical Unresponsiveness To Acth With Postreceptor Defect|Familial Glucocorticoid Deficiency Due To Defect Distal To Acth Receptor
C537068||Focal facial dermal dysplasia|Bitemporal aplasia cutis congenita|Brauer syndrome|FFDD, type 1|Hereditary symmetrical aplastic nevi of temples
C540694||Thrombophilia, hereditary
C567520|611804||Elliptocytosis 1|4.1-Minus Trait|4.1- TRAIT|EL1|Elliptocytosis, Rhesus-Linked Type|Protein 4.1 of Erythrocyte Membrane, Defect of
C538399||NEMO mutation with immunodeficiency|NF-kappa B essential modulator (NEMO) mutation with immunodeficiency
C537069||Foix Chavany Marie syndrome|Congenital Foix-Chavany-Marie syndrome
C566196|113000||Brachydactyly, Type B1|BDB|BDB1|Brachydactyly, Type B
C538390||Hypertrichosis, anterior cervical|Anterior cervical hypertrichosis|Hairy throat|Hairy throat syndrome
C564648||Vascular Malformation, Primary Intraosseous|Hemangioma, Intraosseous|Vascular Malformation Osseous
C563316||Deafness, Progressive, With Stapes Fixation
C535602|126600||Doyne honeycomb retinal dystrophy|DHRD|Doyne honeycomb degeneration of retina|DOYNE HONEYCOMB DEGENERATION OF RETINA;DHD MALATTIA LEVENTINESE, INCLUDED|DRUSEN, RADIAL, AUTOSOMAL DOMINANT, INCLUDED|Malattia Leventinese|MLVT, INCLUDED
D007500||Iritis|Iritides
C565977||Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
C538394||Familial HDL deficiency|Hdl Deficiency, Type 2|High density lipoprotein deficiency|Low Serum Hdl Cholesterol|Primary Hypoalphalipoproteinemia
C537062||Floating-harbor syndrome|Leisti-Hollander-Rimoin Syndrome|Pelletier-Leisti syndrome
D008831||Microcephaly|Microcephalies|Microlissencephalies|Microlissencephaly
C538393||Hypertryptophanemia
C537063||Florid cemento-osseous dysplasia
250250|C535916||Cartilage-hair hypoplasia|Cartilage Hair Syndrome|CHH|McKusick Metaphyseal Chondrodysplasia Syndrome|Metaphyseal chondrodysplasia, McKusick type|Metaphyseal Chondrodysplasia, Recessive Type
C538392||Dejerine-Sottas syndrome
C563319||Myopathy, Myofibrillar, Desmin-Related|Desminopathy, Primary|Desmin-Related Myopathy|Myopathy, Desmin-Related
C538391||Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
C537061||Flavimonas oryzihabitans Bacteremia
C536183|604536||Ectodermal dysplasia/ skin fragility syndrome|Ectodermal Dysplasia/Skin Fragility Syndrome|Mcgrath syndrome
C566493|609975||Hyperinsulinemic Hypoglycemia, Familial, 4|HHF4
D005175|234000||Factor XII Deficiency|Coagulation Factor 12 Deficiency|Deficiencies, Factor 12|Deficiencies, Factor XII|Deficiency, Factor 12|Deficiency, Factor XII|Deficiency, Hageman Factor|F12 DEFICIENCY|Factor 12 Deficiencies|Factor 12 Deficiency|Factor Deficiency, Hageman|Factor XII Deficiencies|HAF DEFICIENCY|Hageman Factor Deficiency|Hageman Trait
C565940||Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies
C538321||Histidinuria renal tubular defect|Histidinuria due to a Renal Tubular Defect|Renal histidinuria
C565941||Arteriosclerosis, Severe Juvenile
C564612||Muscular Dystrophy, Limb-Girdle, Type 2I|LGMD2I
C536611|132700||Familial cylindromatosis|Ancell-Spiegler cylindromas|Brooke-Spiegler syndrome|BRSS|BSS|Cylindromas, Dermal Eccrine|Cylindromatosis, familial|Dermal Eccrine Cylindroma|Familial Trichoepithelioma|SBS|Spiegler-Brooke syndrome|Turban tumors|Turban tumor syndrome|&apos;Turban Tumor&apos; Syndrome
C538325||Ho Kaufman Mcalister syndrome
C564611||Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
C564509|300472||Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia|MENTAL RETARDATION, X-LINKED, SYNDROMIC 28|MRXS28
C538323||Hittner Hirsch Kreh syndrome
311050||OPTIC ATROPHY 2|OPA2|OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET|OPTIC ATROPHY, X-LINKED
C565949||Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
C563720|609439||Deafness, Autosomal Recessive 48|DFNB48
C565944||Coronary Sclerosis, Medial, of Infancy
C564619||Cataract, Sutural, with Punctate and Cerulean Opacities
C565945||Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy
C565947||Antithrombin, Familial Hemorrhagic Diathesis due to
C563336|601363||Wilms Tumor 4|Familial Wilms Tumor 1|FWT1|WT4
C536258|608782||Pyruvate dehydrogenase phosphatase deficiency|Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDHPD
C538318||Chromosome 2, trisomy 2p|Duplication 2p|Trisomy 2p
D001260|208900||Ataxia Telangiectasia|AT|AT1|ATA, INCLUDED|Ataxia-Telangiectasia|Ataxia Telangiectasia Syndrome|ATAXIA-TELANGIECTASIA VARIANT, INCLUDED|ATC, INCLUDED|AT, COMPLEMENTATION GROUP C, INCLUDED|AT, COMPLEMENTATION GROUP D, INCLUDED|AT, COMPLEMENTATION GROUP E, INCLUDED|ATD, INCLUDED|ATE, INCLUDED|Louis Bar Syndrome|Louis-Bar Syndrome|LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A, INCLUDED|Syndrome, Ataxia Telangiectasia|Syndrome, Louis-Bar|Telangiectasia, Cerebello-Oculocutaneous
C538317||Chromosome 2q37 deletion syndrome|2q37 deletion syndrome|Albright hereditary osteodystrophy-like syndrome|Brachydactyly-Mental Retardation syndrome|Chromosome 2, monosomy 2q37|Deletion 2q37|Monosomy 2q37
C538316||Chromosome 2, monosomy 2q24|Deletion 2q24|Monosomy 2q24
C537495|300434||Stocco dos Santos syndrome|Mental retardation, Stocco dos Santos type|Mental Retardation, X-Linked, Stocco Dos Santos Type|SDSX|Stocco dos Santos X-linked mental retardation syndrome
C538315||Chromosome 2, monosomy 2q|Deletion 2q|Monosomy 2q
605462|D002280||Carcinoma, Basal Cell|Basal Cell Carcinoma|BASAL CELL CARCINOMA, MULTIPLE, INCLUDED|BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED|Basal Cell Carcinomas|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6|Basal Cell Epithelioma|Basal Cell Epitheliomas|BCC1|BCC2|BCC3|BCC4|BCC5|BCC6|Carcinoma, Basal Cell, Pigmented|Carcinomas, Basal Cell|Epithelioma, Basal Cell|Epitheliomas, Basal Cell|Rodent Ulcer|Rodent Ulcers|Ulcer, Rodent|Ulcers, Rodent
C538319||Hirschsprung disease type d brachydactyly|Familial Hirschsprung&apos;s disease and type D brachydactyly|Hirschsprung Disease with Type D Brachydactyly
C565951||Angiolipomatosis, Familial|Angiolipoma Microthromboticum
C538332||Naguib-Richieri-Costa syndrome|Acrofrontofacionasal Dysostosis 2|Acrofrontofacionasal dysostosis, severe|Acrofrontofacionasal Dysostosis with Genitourinary Anomalies|Hypertelorism, Hypospadias, and Polysyndactyly Syndrome|Hypertelorism hypospadias polysyndactyly syndrome|Naguib syndrome
C537000||Ledderhose disease
C565952||Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism
C537001||Left-sided gallbladder|Gallbladder, left-sided
D012080||Renal Osteodystrophy|Osteodystrophies, Renal|Osteodystrophy, Renal|Renal Osteodystrophies|Renal Rickets|Rickets, Renal
C565953||Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane
C538330||Inclusion body myopathy, autosomal dominant|Inclusion body myopathy 3
C565954||Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive|Anemia, Congenital Sideroblastic, B6-Responsive
C538335||Nakamura Osame syndrome|Spastic paraplegia, mental retardation and thin corpus callosum
C538334||Nakajo syndrome|Nodular erythema digital changes|Nodular Erythema With Digital Changes
C564620||Laryngeal Atresia, Encephalocele, and Limb Deformities
C537003||Leichtman Wood Rohn syndrome|Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder
C565959||Amobarbital, Deficient N-Hydroxylation of
C564625||Congenital Disorder Of Glycosylation, Type IIID|CDG2D|CDGIID|CDG IID
C565955||Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
C565956||Amyotrophic Lateral Sclerosis, Juvenile, with Dementia|ALS-Dementia Complex
C536485|276900||Usher syndrome, type 1B|RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS USHER SYNDROME, TYPE IB, INCLUDED|US1|USH1|USH1B, INCLUDED|USHER SYNDROME, TYPE I|USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED;USH1A, FORMERLY, INCLUDED|USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, INCLUDED
C565958||Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
C565152|611489||Corticosteroid-Binding Globulin Deficiency|CBG Deficiency|Transcortin Deficiency|TRANSCORTIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED, INCLUDED
C538328||Holoprosencephaly, recurrent infections, and monocytosis
D012075||Remission, Spontaneous|Remissions, Spontaneous|Spontaneous Remission|Spontaneous Remissions
D012078||Renal Artery Obstruction|Obstruction, Renal Artery|Obstructions, Renal Artery|Renal Artery Obstructions|Renal Artery Stenoses|Renal Artery Stenosis|Stenoses, Renal Artery|Stenosis, Renal Artery
C538343||Native American myopathy|Congenital myopathy cleft palate and malignant hyperthermia|Myopathy, Congenital, With Cleft Palate And Malignant Hyperthermia
C537011||Kasznica Carlson Coppedge syndrome|Ectrodactyly spina bifida cardiopathy
C538342||Nathalie syndrome
C537012||Katsantoni Papadakou Lagoyanni syndrome|Trichodermal syndrome and mental retardation
C565920||Bardet-Biedl Syndrome 11
C538341||Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth|Natal teeth, intestinal pseudoobstruction and patent ductus
C565921||Bardet-Biedl Syndrome 12
C538340||Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia|Aughton Sloan Milad syndrome
C537010||Kashani Strom Utley syndrome|Hypoplastic pulmonary arteries and aorta with obstructive uropathy|Pulmonary aortic stenosis obstructive uropathy
607736|C535417||Charcot-Marie-Tooth disease, Type 2J|Charcot-Marie-Tooth disease, axonal, Type 2J|Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth Neuropathy, Type 2j|Cmt2j|CMT 2J
C538347||Negative rheumatoid factor polyarthritis|RF-ve CP|Rheumatoid factor negative erosive chronic polyarthritis|Rheumatoid factor-negative polyarthritis
C537015||KBG syndrome|Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
C567699|608030||Amyotrophic Lateral Sclerosis 6, Autosomal Recessive|ALS6|AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE, INCLUDED|AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
C538345||Navajo poikiloderma|Navajo immune deficient poikiloderma
C537013||Kaufman oculocerebrofacial syndrome
C538344||Navajo neurohepatopathy|Mitochondrial Dna Depletion Syndrome 6|MPV17-Associated Hepatocerebral MDS|MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome|MTDPS6|Navajo Familial Neurogenic Arthropathy|Navajo neuropathy
C565926||Atonic-Astatic Syndrome of Foerster
C565927||Athrombia, Essential
C565928||Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
C565707|610193||Arrhythmogenic Right Ventricular Dysplasia, Familial, 10|Arrhythmogenic Right Ventricular Cardiomyopathy 10|ARVC10|ARVD10
C535845|140350||Hawkinsinuria|4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
C565923||Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
D063726||Delusional Parasitosis|Delusional Parasitoses|Delusional Parasitoses, Ekbom|Delusional Parasitosis, Ekbom|Delusion, Dermatozoic|Delusion, Ekbom Dermatozoic|Delusions, Dermatozoic|Delusions, Ekbom Dermatozoic|Delusory Parasitoses|Delusory Parasitoses, Ekbom|Delusory Parasitosis|Delusory Parasitosis, Ekbom|Dermatozoic Delusion|Dermatozoic Delusion, Ekbom|Dermatozoic Delusions|Dermatozoic Delusions, Ekbom|Ekbom Delusional Parasitoses|Ekbom Delusional Parasitosis|Ekbom Delusory Parasitoses|Ekbom Delusory Parasitosis|Ekbom Dermatozoic Delusion|Ekbom Dermatozoic Delusions|Ekbom Psychogenic Parasitoses|Ekbom Psychogenic Parasitosis|Parasitoses, Delusional|Parasitoses, Delusory|Parasitoses, Ekbom Delusional|Parasitoses, Ekbom Delusory|Parasitoses, Ekbom Psychogenic|Parasitoses, Psychogenic|Parasitosis, Delusional|Parasitosis, Delusory|Parasitosis, Ekbom Delusional|Parasitosis, Ekbom Delusory|Parasitosis, Ekbom Psychogenic|Parasitosis, Psychogenic|Psychogenic Parasitoses|Psychogenic Parasitoses, Ekbom|Psychogenic Parasitosis|Psychogenic Parasitosis, Ekbom
114500|D015179||Colorectal Neoplasms|Cancer, Colorectal|Cancers, Colorectal|Carcinoma, Colorectal|Carcinomas, Colorectal|COLON CANCER|COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO|Colorectal Cancer|Colorectal Cancers|COLORECTAL CANCER, SUSCEPTIBILITY TO, 1|COLORECTAL CANCER, SUSCEPTIBILITY TO, 10|COLORECTAL CANCER, SUSCEPTIBILITY TO, 11|COLORECTAL CANCER, SUSCEPTIBILITY TO, 2|COLORECTAL CANCER, SUSCEPTIBILITY TO, 3|COLORECTAL CANCER, SUSCEPTIBILITY TO, 5|COLORECTAL CANCER, SUSCEPTIBILITY TO, 6|COLORECTAL CANCER, SUSCEPTIBILITY TO, 7|COLORECTAL CANCER, SUSCEPTIBILITY TO, 8|COLORECTAL CANCER, SUSCEPTIBILITY TO, 9|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 10|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 11|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 14q|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 16q|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 18|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 20p|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q23|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q24|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9|Colorectal Carcinoma|Colorectal Carcinomas|Colorectal Neoplasm|Colorectal Tumor|Colorectal Tumors|CRC|CRCS1|CRCS10|CRCS11|CRCS2|CRCS3|CRCS5|CRCS6|CRCS7|CRCS8|CRCS9|Neoplasm, Colorectal|Neoplasms, Colorectal|Tumor, Colorectal|Tumors, Colorectal
C567708|613205||Muscular Dystrophy, Congenital, Lmna-Related|Mdcl
C537008||Kapur Toriello syndrome|Cleft lip palate, facial, eye, heart and intestinal anomalies|Long columella with cleft lip/palate and eye, heart, and intestinal anomalies
C538155|186300||Syndactyly, type v|Syndactyly type 5|Syndactyly with metacarpal and metatarsal fusion
C537009||Karandikar Maria Kamble syndrome|Cataract mental retardation anal atresia urinary defects|Congenital cataract with multiple congenital anomalies in a sibship
D013375||Substance Withdrawal Syndrome|Drug Withdrawal Symptom|Drug Withdrawal Symptoms|Substance Withdrawal Syndromes|Symptom, Drug Withdrawal|Symptoms, Drug Withdrawal|Symptoms, Withdrawal|Symptom, Withdrawal|Syndromes, Substance Withdrawal|Syndrome, Substance Withdrawal|Withdrawal Symptom|Withdrawal Symptom, Drug|Withdrawal Symptoms|Withdrawal Symptoms, Drug|Withdrawal Syndromes, Substance|Withdrawal Syndrome, Substance
235700||HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
C538338||Nasopalpebral lipoma coloboma syndrome|Nasopalpebral Lipoma-Coloboma Syndrome|Palpebral coloboma lipoma Syndrome|Palpebral Coloboma-Lipoma Syndrome
C537006||Leiomyoma of vulva and esophagus|Esophagogastric and vulvar leiomyomatosis|Leiomyomatosis, esophagogastric and vulvar
C535935|602347||Cholestasis, progressive familial intrahepatic 3|Abcb4-Related Intrahepatic Cholestasis|Cholestasis, Progressive Familial Intrahepatic, 3|Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase|Low gamma-GT Familial Intrahepatic Cholestasis|MDR3 Deficiency|PFIC3|Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3)|Progressive Familial Intrahepatic Cholestasis 3 (PFIC3)|Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
C538337||Nasodigitoacoustic syndrome|Keipert Syndrome
C537007||Kaposiform Hemangioendothelioma|Congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangio-endothelioma
C562876|212070||Carboxypeptidase N Deficiency
C538354||Potato nose|Nose, anomalous shape of
C565930||Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death
C537023||Koone Rizzo Elias syndrome|Ichthyosis, mental retardation and asymptomatic spasticity
C537622|612736||Guanidinoacetate methyltransferase deficiency|CCDS2|CEREBRAL CREATINE DEFICIENCY SYNDROME 2|Creatine Deficiency Syndrome Due To Gamt Deficiency|GAMT Deficiency|GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
C538352||Pellagra like syndrome|Pellagra-like rash with neurologic manifestations|Pellagra-Like Syndrome
C537020||Kenny Caffey syndrome|Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia|Kenny-Caffey syndrome, type 2|Kenny syndrome
C565932||Ataxia, Deafness, and Cardiomyopathy
C538358||Powell Venencie Gordon syndrome|Keratoderma and spastic paralysis|Punctate keratoderma and spastic paralysis
C537026||Lipodermatosclerosis|Acute lipodermatosclerosis
D012061||Relapsing Fever|Fever, Relapsing|Fevers, Relapsing|Relapsing Fevers
C538357||Powell Chandra Saal syndrome|PHAVER syndrome|Vertebral, radial, congenital heart, and ear defects
C537024||Kosztolanyi syndrome|Arachnodactyly, abnormal ossification and mental retardation|Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation
C537025||Kotzot-Richter syndrome|Albinism with immune and hematologic defects|Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies
C563515|162820||Neutrophil Chemotactic Response|NCR|NEUTROPHIL CHEMOTACTIC RESPONSE|Neutrophil Migration|NM
C536238|303700||Blue cone monochromatism|BCM|BLUE CONE MONOCHROMACY|BLUE CONE MONOCHROMATISM|COD5, INCLUDED|Color blindness blue mono cone monochromatic type|Colorblindness, Blue-Mono-Cone-Monochromatic Type|COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE;CBBM CONE DYSTROPHY 5, X-LINKED, INCLUDED
C564609||Deafness, Autosomal Recessive
C565933||Ataxia with Myoclonic Epilepsy and Presenile Dementia
277460|C535393||Ataxia with vitamin E deficiency|Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency|Ataxia with isolated vitamin E deficiency|AVED|Familial isolated deficiency of vitamin E|Familial Isolated Vitamin E Deficiency|Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency|Friedreich-Like Ataxia|Friedreich-like ataxia with selective vitamin E deficiency|VED|Vitamin E, Familial Isolated Deficiency of
C565934||Asthma, Short Stature, and Elevated IgA
C564607||Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures|ICEGTC
C564606||Anonychia, Total, with Microcephaly
248200|C535804||Stargardt disease 1|FFM, INCLUDED|Fundus Flavimaculatus|Juvenile macular degeneration|Macular degeneration juvenile|Macular Degeneration, Juvenile|Macular dystrophy with flecks type 1|Macular Dystrophy With Flecks, Type 1|MACULAR DYSTROPHY WITH FLECKS, TYPE 1 FUNDUS FLAVIMACULATUS, INCLUDED|RETINAL DYSTROPHY, EARLY-ONSET SEVERE, INCLUDED|STGD|STGD1
260920|D054078||Mevalonate Kinase Deficiency|Aciduria, Mevalonic|HIDS|Hyper IgD Syndrome|Hyper-IgD Syndrome|Hyper IgD Syndromes|Hyper-IgD Syndromes|Hyperimmunoglobulinemia D|Hyperimmunoglobulinemia D And Periodic Fever Syndrome|Kinase Deficiencies, Mevalonate|Kinase Deficiency, Mevalonate|MEVA|Mevalonate Kinase Deficiencies|Mevalonicaciduria|Mevalonic Aciduria|Mevalonicacidurias|Periodic Fever, Dutch Type|Syndrome, Hyper-IgD
606788|D000856||Anorexia Nervosa|AN|ANON1|Anorexia Nervosas|ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1|Nervosa, Anorexia|Nervosas, Anorexia
C537019||Kennerknecht Vogel syndrome|Agonadism mental retardation delayed bone age
C537018||Kennerknecht Sorgo Oberhoffer syndrome|Agonadism dextrocardia diaphragmatic hernia|Agonadism with multiple internal malformations|PAGOD syndrome
C535344|610623||Cataract, posterior polar, 4|CATARACT 11, MULTIPLE TYPES|CATARACT, POSTERIOR POLAR, 4|Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities|CPP4 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES, INCLUDED|CTPP4|CTRCT11|Posterior polar cataract, 4
D000169||Acrodermatitis|Acrodermatitides|Acrodermatitis Papulosa Infantum|Acrodermatitis Papulosa Infantums|Acropapulo Vesicular Syndrome|Acropapulo-Vesicular Syndrome|Acropapulo-Vesicular Syndromes|Childhood Papular Acrodermatitides|Childhood Papular Acrodermatitis|Erythemato Vesiculo Papulous Eruptive Syndrome|Erythemato-Vesiculo-Papulous Eruptive Syndrome|Erythemato-Vesiculo-Papulous Eruptive Syndromes|Gianotti Crosti Syndrome|Gianotti-Crosti Syndrome|Infantile Papular Acrodermatitides|Infantile Papular Acrodermatitis|Papular Acrodermatitides, Infantile|Papular Acrodermatitis, Infantile|Papular Acrodermatitis of Childhood|Papulovesicular Acrolocated Syndrome|Papulovesicular Acrolocated Syndromes|Syndrome, Acropapulo-Vesicular|Syndrome, Erythemato-Vesiculo-Papulous Eruptive|Syndrome, Gianotti-Crosti|Syndromes, Acropapulo-Vesicular|Syndromes, Erythemato-Vesiculo-Papulous Eruptive|Syndromes, Papulovesicular Acrolocated
C538402||Aspartylglucosamidase (AGA) deficiency|Aspartylglucosaminidase Deficiency|Glycosylasparaginase deficiency
C567747|613112||Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
C538401||Arthrogryposis multiplex congenita whistling face|Arthrogryposis Multiplex Congenita With Whistling Face|Illium syndrome|Illum Syndrome|Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system
D000163||Acquired Immunodeficiency Syndrome|Acquired Immune Deficiency Syndrome|Acquired Immuno Deficiency Syndrome|Acquired Immuno-Deficiency Syndrome|Acquired Immunodeficiency Syndromes|Acquired Immuno-Deficiency Syndromes|AIDS|Immunodeficiency Syndrome, Acquired|Immuno-Deficiency Syndrome, Acquired|Immunodeficiency Syndromes, Acquired|Immuno-Deficiency Syndromes, Acquired|Immunologic Deficiency Syndrome, Acquired|Syndrome, Acquired Immunodeficiency|Syndrome, Acquired Immuno-Deficiency|Syndromes, Acquired Immunodeficiency|Syndromes, Acquired Immuno-Deficiency
C536750|278250||Wrinkly skin syndrome|WSS
D013479||Superior Vena Cava Syndrome|Superior Vena Cava Obstruction|Superior Vena Cava Thrombosis
D000170||Acrodynia|Acrodynic Erythema|Childhood Mercurialism, Chronic|Childhood Mercurialisms, Chronic|Chronic Childhood Mercurialism|Chronic Childhood Mercurialisms|Erythema, Acrodynic|Feer Disease|Feer&apos;s Disease|Feers Disease|Mercurialism, Chronic Childhood|Pink Disease|Swift Disease|Swift&apos;s Disease|Swifts Disease
D012142||Respiratory Tract Neoplasms|Neoplasm, Respiratory Tract|Neoplasms, Respiratory Tract|Respiratory Tract Neoplasm|Tract Neoplasm, Respiratory|Tract Neoplasms, Respiratory
D020167|238700||Hyperlysinemias|Alpha Aminoadipic Semialdehyde Deficiency Disease|Alpha-Aminoadipic Semialdehyde Deficiency Disease|ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY|Deficiencies, L-Lysine:NAD-Oxido-Reductase|Deficiencies, Lysine:Alpha-Ketoglutarate Reductase|Deficiency Disease, Alpha Aminoadipic Semialdehyde|Deficiency Disease, Alpha-Aminoadipic Semialdehyde|Deficiency Disease, Lysine Alpha Ketoglutarate Reductase|Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase|Deficiency Disease, Saccharopine Dehydrogenase|Deficiency, L-Lysine:NAD-Oxido-Reductase|Deficiency, Lysine:Alpha-Ketoglutarate Reductase|Familial Hyperlysinemia|Familial Hyperlysinemias|Hyperammonemia, Hyperlysinuria With|Hyperammonemias, Hyperlysinuria With|Hyperlysinemia|Hyperlysinemia, Familial|Hyperlysinemia, Periodic|Hyperlysinemias, Familial|Hyperlysinemias, Periodic|HYPERLYSINEMIA, TYPE I|Hyperlysinuria With Hyperammonemia|Hyperlysinuria With Hyperammonemias|L-Lysine:NAD-Oxido-Reductase Deficiencies|L Lysine:NAD Oxido Reductase Deficiency|L-Lysine:NAD-Oxido-Reductase Deficiency|Lysine:Alpha-Ketoglutarate Reductase Deficiencies|Lysine:Alpha Ketoglutarate Reductase Deficiency|Lysine:Alpha-Ketoglutarate Reductase Deficiency|Lysine Alpha Ketoglutarate Reductase Deficiency Disease|Lysine Alpha-Ketoglutarate Reductase Deficiency Disease|LYSINE INTOLERANCE|Periodic Hyperlysinemia|Periodic Hyperlysinemias|Reductase Deficiencies, Lysine:Alpha-Ketoglutarate|Reductase Deficiency, Lysine:Alpha-Ketoglutarate|Saccharopine Dehydrogenase Deficiency Disease|With Hyperammonemia, Hyperlysinuria|With Hyperammonemias, Hyperlysinuria
D013474||Sunstroke|Sun Stroke|Sunstrokes|Sun Strokes
C564559|300228||Testicular Germ Cell Tumor 1|TGCT1
D012140||Respiratory Tract Diseases|Disease, Respiratory Tract|Diseases, Respiratory Tract|Respiratory Tract Disease|Tract Disease, Respiratory|Tract Diseases, Respiratory
D013471||Sunburn|Sunburns
211750||C SYNDROME|OPITZ TRIGONOCEPHALY SYNDROME|TRIGONOCEPHALY SYNDROME
D012141||Respiratory Tract Infections|Infection, Respiratory Tract|Infections, Respiratory|Infections, Respiratory Tract|Infections, Upper Respiratory|Infections, Upper Respiratory Tract|Respiratory Infections|Respiratory Infection, Upper|Respiratory Tract Infection|Upper Respiratory Infections|Upper Respiratory Tract Infections
112600|C537089||Brachydactyly type A2|BDA2|Brachydactyly, Type A2|Brachymesophalangy 2|Brachymesophalangy Ii|Mohr-Wriedt type brachydactyly
D013478||Superior Mesenteric Artery Syndrome|Cast Syndrome|Duodenal Compression Syndrome, Mesenteric|Mesenteric Duodenal Compression Syndrome|Syndrome, Cast|Syndrome, Wilkie|Wilkie Syndrome
C564700||Craniosynostosis Syndrome, Autosomal Recessive
D013492||Suppuration|Pus
C538411||Diaphyseal dysplasia 1, progressive
C564704||Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
D000172||Acromegaly|Hypersecretion Syndrome, Somatotropin (Acromegaly)|Hypersecretion Syndromes, Somatotropin (Acromegaly)|Inappropriate GH Secretion Syndrome (Acromegaly)|Inappropriate Growth Hormone Secretion Syndrome (Acromegaly)|Somatotropin Hypersecretion Syndrome (Acromegaly)|Somatotropin Hypersecretion Syndromes (Acromegaly)|Syndrome, Somatotropin Hypersecretion (Acromegaly)|Syndromes, Somatotropin Hypersecretion (Acromegaly)
C535982|604498||Congenital amegakaryocytic thrombocytopenia|Amegakaryocytic Thrombocytopenia, Congenital|CAMT
C564707||Persistent Polyclonal B-Cell Lymphocytosis
D049328||Mongolian Spot|Blue Spot, Mongolian|Mongolian Blue Spot|Spot, Mongolian
C567478|300703||Spinocerebellar Ataxia, X-Linked 5|Scax5
128700|C563015||Preauricular Fistulae, Congenital|Ear Pits|PAFC
C536108|310465||N syndrome|NSX
D000182||ACTH Syndrome, Ectopic|ACTH Syndromes, Ectopic|Ectopic ACTH Syndrome|Ectopic ACTH Syndromes|Syndrome, Ectopic ACTH|Syndromes, Ectopic ACTH
C567404|612164||Epileptic Encephalopathy, Early Infantile, 4|EIEE4
C538406||Canaliculitis|Keratoactinomycosis
C538405||Dichuchwa|Frenga|Njovera|Nonvenereal syphilis
300496||AUTISM, SUSCEPTIBILITY TO, X-LINKED 3|AUTSX3
300497||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2|ASPGX2
300494||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1|ASPGX1
D051642||Histiocytoma|Histiocytomas
300495||AUTISM, SUSCEPTIBILITY TO, X-LINKED 2|AUTSX2|MENTAL RETARDATION, X-LINKED, INCLUDED
C538407||Acute rheumatism
C538420||Black hairy tongue|Black tongue|Lingua Nigra|Lingua Villosa Nigra
108600||SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT|SPAX1
C536695|193530||Weyers acrofacial dysostosis|Acrodental dysostosis of Weyers|Acrofacial dysostosis of Weyers|Curry Hall syndrome|Curry-Hall syndrome|WAD|Weyers acrodental dysostosis
C538421||Neurodegeneration with brain iron accumulation (NBIA)
D000142||Acidosis, Respiratory|Acidoses, Respiratory|Respiratory Acidoses|Respiratory Acidosis
D000140||Acidosis, Lactic|Lactic Acidosis
D001471||Barrett Esophagus|Barrett Epithelium|Barrett Metaplasia|Barrett&apos;s Esophagus|Barretts Esophagus|Barrett&apos;s Syndrome|Barretts Syndrome|Barrett Syndrome|Epithelium, Barrett|Esophagus, Barrett|Esophagus, Barrett&apos;s|Syndrome, Barrett|Syndrome, Barrett&apos;s
C537128|165300||Optic atrophy and cataract, autosomal dominant|Opa3, Autosomal Dominant|Optic Atrophy 3, Autosomal Dominant|OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT|Optic atrophy, cataract, and neurologic disorder
D001477||Bartter Syndrome|Aldosteronism with Hyperplasia of the Adrenal Cortex|Bartter Disease|Bartter&apos;s Disease|Bartters Disease|Bartter&apos;s Syndrome|Bartters Syndrome|Juxtaglomerular Hyperplasia with Secondary Aldosteronism|Syndrome, Bartter|Syndrome, Bartter&apos;s
D001476||Bartonellaceae Infections|Bartonellaceae Infection|Infection, Bartonellaceae|Infections, Bartonellaceae
D063646||Carcinogenesis|Carcinogeneses|Oncogeneses|Oncogenesis|Tumorigeneses|Tumorigenesis
D001474||Bartonella Infections|Bartonella Infection|Bartonelloses|Bartonellosis|Carrion Disease|Carrion&apos;s Disease|Carrions Disease|Cat Scratch Fever|Cat Scratch Fevers|Disease, Carrion|Disease, Carrion&apos;s|Fever, Cat Scratch|Fever, Oroya|Fevers, Cat Scratch|Infection, Bartonella|Infection, Rochalimaea|Infections, Bartonella|Infections, Rochalimaea|Oroya Fever|Rochalimaea Infection|Rochalimaea Infections|Scratch Fever, Cat|Scratch Fevers, Cat|Verruga Peruana
D012128||Respiratory Distress Syndrome, Adult|Acute Respiratory Distress Syndrome|Adult Respiratory Distress Syndrome|ARDS, Human|ARDSs, Human|Human ARDS|Lung, Shock|Respiratory Distress Syndrome, Acute|Shock Lung
D063647||Fetal Alcohol Spectrum Disorders|Alcohol Related Birth Defects|Alcohol-Related Birth Defects|Alcohol Related Neurodevelopmental Disorder|Birth Defects, Alcohol-Related|FAE (Fetal Alcohol Effects)|FAEs (Fetal Alcohol Effects)|FASD|FASDs|Fetal Alcohol Syndrome|Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction|Partial Fetal Alcohol Syndrome|Syndrome, Fetal Alcohol
209500|C565924||Atrichia with Papular Lesions|APL|Papular Atrichia
D012127||Respiratory Distress Syndrome, Newborn|Infantile Respiratory Distress Syndrome|Neonatal Respiratory Distress Syndrome|Respiratory Distress Syndrome, Infant
D001480||Basal Ganglia Diseases|Basal Ganglia Disease|Basal Ganglia Disorder|Basal Ganglia Disorders|Extrapyramidal Disorder|Extrapyramidal Disorders|Lenticulostriate Disorder|Lenticulostriate Disorders
147791|D054868||Jacobsen Distal 11q Deletion Syndrome|11q23 Deletion Disorder|11q Deletion Disorder|11q Deletion Syndrome|11q- Deletion Syndrome|11q Terminal Deletion Disorder|Chromosome 11q Deletion Syndrome|Deletion Disorder, 11q|Deletion Disorder, 11q23|Disorder, 11q23 Deletion|Disorder, 11q Deletion|Jacobsen Syndrome|Jacobsen Thrombocytopenia|JBS|Paris Trousseau Syndrome|Paris-Trousseau Syndrome|Paris Trousseau Thrombocytopenia|Paris-Trousseau Thrombocytopenia|Partial 11q Monosomy Syndrome|Syndrome, 11q Deletion|Syndrome, Jacobsen|Syndrome, Paris-Trousseau|Thrombocytopenia, Jacobsen|Thrombocytopenia, Paris-Trousseau
607453|C564399||Deafness, Autosomal Dominant 44|DFNA44
D012120||Respiration Disorders|Disorder, Respiration|Disorders, Respiration|Respiration Disorder
D014782||Visceral Prolapse|Prolapse, Visceral|Splanchnoptosis|Visceroptosis
D014786||Vision Disorders|Blindness, Day|Day Blindness|Disabilities, Vision|Disability, Vision|Disorders, Visual|Disorder, Visual|Hemeralopia|Hemeralopias|Impairments, Visual|Impairment, Visual|Macropsia|Macropsias|Metamorphopsia|Metamorphopsias|Micropsia|Micropsias|Vision Disabilities|Vision Disability|Vision Disorder|Visual Disorder|Visual Disorders|Visual Impairment|Visual Impairments
251100|C537360||Methylmalonic aciduria cblA type|Methylmalonic acidemia cblA type|Methylmalonic Acidemia, cblA Type|Methylmalonic Aciduria, cblA Type|METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE
D006627|142623||Hirschsprung Disease|Aganglionic Megacolon|Aganglionosis, Colonic|Aganglionosis, Rectosigmoid|Aganglionosis, Rectosigmoid Colon|Aganglionosis, Total Colonic|Colonic Aganglionosis|Congenital Intestinal Aganglionosis|Congenital Megacolon|Disease, Hirschsprung|Disease, Hirschsprung&apos;s|HIRSCHSPRUNG DISEASE|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9|Hirschsprung&apos;s Disease|Hirschsprungs Disease|HSCR|HSCR1|HSCR2|HSCR3|HSCR4|HSCR5|HSCR6|HSCR7|HSCR8|HSCR9|Megacolon, Aganglionic|Megacolon, Congenital|MGC|Rectosigmoid Aganglionosis|Rectosigmoid Colon Aganglionosis|Total Colonic Aganglionosis
C537100||Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia|Brachyphalangy, polydactyly and absent tibiae
C538435||Lubs syndrome|Pseudohermaphroditism, Incomplete Male, Type I|Rosewater syndrome|Type I familial incomplete male pseudohermaphroditism
C537104||Branchiootic syndrome|Bos1|BO syndrome 1|Branchiootic dysplasia|Branchiootic Syndrome 1
C538433||Ancylostoma duodenale infection
C537101||Brachytelephalangy characteristic facies Kallmann|Brachytelephalangy with Characteristic Facies and Kallmann Syndrome|Characteristic craniofacial appearance and brachytelephalangy
256550|C537366||Neuraminidase 1 deficiency|CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED|GLYCOPROTEIN NEURAMINIDASE DEFICIENCY|LIPOMUCOPOLYSACCHARIDOSIS|ML I|MUCOLIPIDOSIS I|MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED|Neu1 Deficiency|NEU1 DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED|Neu Deficiency|Neug Deficiency|NEURAMINIDASE 1 DEFICIENCY|Neuraminidase deficiency|Sialidase deficiency|Sialidoses, type 2|Sialidosis, Type II
C537102||Branchial arch syndrome X-linked|Branchial Arch Syndrome, X-Linked|Mandibulofacial Dysostosis, Toriello Type
D000153||Acne Keloid|Acne, Keloidal|Acne Keloidalis|Acne Keloids|Folliculitis Keloidalis|Keloid, Acne|Keloidal Acne|Keloidal Acnes|Keloids, Acne
C566426|602759||Prostate Cancer, Hereditary, 8|HPC8|PCAP|Predisposing For Prostate Cancer
277580||WAARDENBURG SYNDROME, TYPE 4A|SHAH-WAARDENBURG SYNDROME|WAARDENBURG-SHAH SYNDROME|WAARDENBURG SYNDROME, TYPE IVA|WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A|WS4|WS4A
D000152||Acne Vulgaris|Acne
C567048|610913||Surfactant Metabolism Dysfunction, Pulmonary, 2|Desquamative Interstitial Pneumonitis Due To Surfactant Protein C Deficiency|Interstitial Lung Disease Due To Surfactant Protein C Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 2|SMDP2
D000151||Acinetobacter Infections|Acinetobacter Infection|Infection, Acinetobacter|Infection, Mimae|Infections, Acinetobacter|Infections, Mimae|Mimae Infection|Mimae Infections
C537729|606952||Oculocutaneous albinism type 1B|Albinism, Oculocutaneous, Type Ib|Albinism, yellow mutant type|OCA1B|OCA1-TS, INCLUDED|Oculocutaneous Albinism, Type Ib|Yellow albinism|YELLOW ALBINISM ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED
C563409|600996||Arrhythmogenic Right Ventricular Dysplasia, Familial, 2|Arrhythmogenic Right Ventricular Cardiomyopathy 2|ARVC2|ARVD2
D000160||Vestibulocochlear Nerve Diseases|Acoustic Nerve Disease|Acoustic Nerve Diseases|Acoustic Nerve Disorder|Acoustic Nerve Disorders|Cochlear Nerve Disease|Cochlear Nerve Diseases|Cochlear Nerve Disorder|Cochlear Nerve Disorders|Cochlear Neuritides|Cochlear Neuritis|Cranial Nerve VIII Diseases|Cranial Nerve VIII Disorders|Eighth Cranial Nerve Diseases|Neuritides, Cochlear|Neuritis, Cochlear|Vestibular Nerve Disease|Vestibular Nerve Diseases|Vestibular Nerve Disorder|Vestibular Nerve Disorders|Vestibulocochlear Nerve Disease
D012131||Respiratory Insufficiency|Depressions, Ventilatory|Respiratory Depression|Respiratory Failure|Ventilatory Depression
C537534|606744||Seckel syndrome 2|Bird-headed dwarfism 2|Microcephalic primordial dwarfism 2|SCKL2|Seckel-type dwarfism 2
C538427||Myoclonic epilepsy with choreoathetosis
D012130||Respiratory Hypersensitivity|Hypersensitivities, Respiratory|Hypersensitivity, Respiratory|Respiratory Hypersensitivities
D012135||Respiratory Sounds|Breathing Sound|Breathing Sounds|Crackle|Crackles|Lung Sound|Lung Sounds|Pleural Rub|Pleural Rubs|Rale|Rales|Respiratory Sound|Rhonchi|Rhonchus|Rub, Pleural|Sound, Breathing|Sound, Lung|Sound, Respiratory|Sounds, Breathing|Sounds, Lung|Stridor|Stridors|Wheezing|Wheezings
D012133||Respiratory Paralysis|Diaphragmatic Paralysis|Muscle Paralyses, Respiratory|Muscle Paralysis, Respiratory|Paralysis, Diaphragmatic|Paralysis, Respiratory|Paralysis, Respiratory Muscle|Respiratory Muscle Paralysis
C538429||Hypoadrenocorticism, familial|Adrenal aplasia|Adrenal hypoplasia
C535706|608612||Mandibuloacral dysplasia with type B lipodystrophy|Lipodystrophy, type B, associated with mandibuloacral dysplasia|MADB
D000126||Achlorhydria|Achylia Gastrica|Hypochlorhydria
C536654|261680||Phosphoenolpyruvate carboxykinase deficiency|PCK1 DEFICIENCY, CYTOSOLIC|PEPCK DEFICIENCY, CYTOSOLIC|Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency|Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic|Phosphoenolpyruvate carboxylase deficiency|Phosphopyruvate carboxylase deficiency
D002780||Cholestasis, Intrahepatic|Bile Duct Obstruction, Intrahepatic|Biliary Stases, Intrahepatic|Biliary Stasis, Intrahepatic|Cholestases, Intrahepatic|Intrahepatic Biliary Stases|Intrahepatic Biliary Stasis|Intrahepatic Cholestases|Intrahepatic Cholestasis
C565547|231300||Glaucoma 3, Primary Congenital, A|BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED|GLAUCOMA, CONGENITAL|GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED|GLC3|GLC3A
D002781||Cholesteatoma|Cholesteatomas
C564723|300066||Deafness, X-Linked 4|Deafness, Nonsyndromic Sensorineural Progressive 6|Deafness, X-Linked 6, Progressive|DFN6|DFNX4
D014766||Viremia|Viremias
D013436||Sulfhemoglobinemia|Sulfhemoglobinemias
C537516|601200||Pleuropulmonary blastoma|PPB|PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME|PPBFTDS
C537241|312060||Properdin deficiency, X-linked|CFPD|COMPLEMENT FACTOR PROPERDIN DEFICIENCY|PFD|Properdin deficiency, type 1|Properdin Deficiency, Type I|PROPERDIN DEFICIENCY, TYPE III, INCLUDED|PROPERDIN DEFICIENCY, TYPE I PROPERDIN DEFICIENCY, TYPE II, INCLUDED|Properdin P factor deficiency
D051677||Histiocytoma, Malignant Fibrous|Fibrohistiocytic Tumor, Malignant|Fibrohistiocytic Tumors, Malignant|Fibrous Histiocytoma, Malignant|Fibrous Histiocytomas, Malignant|Histiocytomas, Malignant Fibrous|Malignant Fibrohistiocytic Tumor|Malignant Fibrohistiocytic Tumors|Malignant Fibrous Histiocytoma|Malignant Fibrous Histiocytomas|Pleomorphic Malignant Fibrous Histiocytoma|Tumor, Malignant Fibrohistiocytic|Tumors, Malignant Fibrohistiocytic
C567210|612651||Endocrine-Cerebroosteodysplasia|ECO
D000138||Acidosis|Acidoses|Acidoses, Metabolic|Acidosis, Metabolic|Metabolic Acidoses|Metabolic Acidosis
D001469||Barotrauma|Barotraumas
D052919|601539||Refsum Disease, Infantile|ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL|Disease, Infantile Refsum|Disease, Infantile Refsum&apos;s|Infantile Form of Phytanic Acid Storage Disease|Infantile Phytanic Acid Storage Disease|Infantile Refsum Disease|Infantile Refsum&apos;s Disease|Infantile Refsums Disease|PBD1B|PEROXISOME BIOGENESIS DISORDER 1B|PEROXISOME BIOGENESIS DISORDER (NALD/IRD)|PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)|REFSUM DISEASE, INFANTILE|Refsum Disease, Infantile Form|Refsum&apos;s Disease, Infantile|Refsums Disease, Infantile
D000137||Acid-Base Imbalance|Acid Base Imbalance|Acid-Base Imbalances|Imbalance, Acid-Base|Imbalances, Acid-Base
C565662|219080||Acth-Independent Macronodular Adrenal Hyperplasia|Acth-Independent Cushing Syndrome|Acth-Independent Macronodular Adrenocortical Hyperplasia|Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia|Aimah|Corticotropin-Independent Macronodular Adrenal Hyperplasia|Cushing Syndrome, Adrenal, Due To Aimah
D002796||Choline Deficiency|Choline Deficiencies|Deficiencies, Choline|Deficiency, Choline
C566474|610445||Night Blindness, Congenital Stationary, Autosomal Dominant 1|CSNBAD1|Night Blindness, Congenital Stationary, Rhodopsin-Related
D014777||Virus Diseases|Diseases, Viral|Diseases, Virus|Disease, Viral|Disease, Virus|Viral Disease|Viral Diseases|Virus Disease
D014770||Virilism|Androgenization|Virilization
D001437||Bacteriuria|Bacteriurias
D002769||Cholelithiasis|Cholelithiases
C567645|613319||Miyoshi Muscular Dystrophy 3|Miyoshi Myopathy 3|MMD3
D002761||Cholangitis|Cholangitides
C538355|610883||Potocki-Lupski syndrome|Chromosome 17p11.2 Duplication Syndrome|Duplication 17p11.2 syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|PTLS
D002764||Cholecystitis|Empyema, Gallbladder|Empyema, Gall Bladder|Gallbladder Empyema|Gall Bladder Empyema|Gallbladder Inflammation|Inflammation, Gallbladder
C563867|608747||Insulin-Like Growth Factor I Deficiency|Growth Retardation with Sensorineural Deafness and Mental Retardation|IGF1 Deficiency
259710||OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2|OPTB2|OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM|OSTEOPETROSIS, OSTEOCLAST-POOR
580000|C564013||Deafness, Aminoglycoside-Induced|Deafness, Streptomycin-Induced|Streptomycin Ototoxicity
D001447||Balantidiasis|Balantidiases
153700|D057826||Vitelliform Macular Dystrophy|Adult-Onset Foveomacular Dystrophies|Adult-Onset Foveomacular Dystrophy|Adult Onset Vitelliform Macular Dystrophy|Adult-Onset Vitelliform Macular Dystrophy|AOFMD|AVMD|Best Disease|Best Macular Dystrophy|Best&apos;s Disease|Best Vitelliform Macular Dystrophy|BMD|Disease, Best|Disease, Best&apos;s|Dystrophies, Adult-Onset Foveomacular|Dystrophies, Vitelliform Macular|Dystrophy, Adult-Onset Foveomacular|Dystrophy, Best Macular|Dystrophy, Vitelliform Macular|Foveomacular Dystrophies, Adult-Onset|Foveomacular Dystrophy, Adult Onset|Foveomacular Dystrophy, Adult-Onset|Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization|Juvenile Onset Vitelliform Macular Dystrophy|Juvenile-Onset Vitelliform Macular Dystrophy|Macular Degeneration, Polymorphic Vitelline|MACULAR DEGENERATION, POLYMORPHIC VITELLINE BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL, INCLUDED|Macular Dystrophies, Vitelliform|Macular Dystrophy, Best|Macular Dystrophy, Vitelliform|Macular Dystrophy, Vitelliform, Adult-Onset|Vitelliform Dystrophy|Vitelliform Macular Dystrophies|Vitelliform Macular Dystrophy, Adult Onset|Vitelliform Macular Dystrophy, Adult-Onset|Vitelliform Macular Dystrophy, Early Onset|Vitelliform Macular Dystrophy, Early-Onset|Vitelliform Macular Dystrophy, Juvenile Onset|Vitelliform Macular Dystrophy, Juvenile-Onset|Vitelliform Macular Dystrophy Type 2|VMD
D001446||Balanitis|Balanitides
300425||AUTISM, SUSCEPTIBILITY TO, X-LINKED 1|AUTSX1
D001449||Balkan Nephropathy|Balkan Endemic Nephropathy|Danubian Endemic Familial Nephropathy|Endemic Nephropathy, Balkan|Nephropathy, Balkan|Nephropathy, Balkan Endemic
D002779||Cholestasis|Bile Duct Obstruction|Bile Duct Obstructions|Biliary Stases|Biliary Stasis|Cholestases|Duct Obstruction, Bile|Duct Obstructions, Bile|Obstruction, Bile Duct|Obstructions, Bile Duct|Stases, Biliary|Stasis, Biliary
D001442||Bacteroides Infections|Bacteroides Infection|Infection, Bacteroides|Infections, Bacteroides
C535959|131960||Epidermolysis bullosa simplex with mottled pigmentation|EBS-MP|Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering
D002771||Cholera|Choleras
C565531|233710||Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II|CGD, Autosomal Recessive Cytochrome B-Positive, Type II|Granulomatous Disease, Chronic, due to NCF2 Deficiency|NCF2, DEFICIENCY OF|Neutrophil Cytosol Factor 2, Deficiency of|P67-Phox, Deficiency of
D050379||Arteriolosclerosis|Arterioloscleroses
D001416||Back Pain|Ache, Back|Aches, Back|Backache|Back Ache|Backaches|Back Aches|Back Pains|Back Pain without Radiation|Back Pain with Radiation|Pain, Back|Pains, Back|Pain Syndromes, Vertebrogenic|Pain Syndrome, Vertebrogenic|Syndromes, Vertebrogenic Pain|Syndrome, Vertebrogenic Pain|Vertebrogenic Pain Syndrome|Vertebrogenic Pain Syndromes
613573||ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1|EDSS1
613575||RETINITIS PIGMENTOSA 55|RP55
613576||ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2|EDSS2
612239||SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5|IS5
C562722|131400||Eosinophilia, Familial|EOS|Familial eosinophilia
612238||SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4|IS4
C563443|600794||Neuronopathy, Distal Hereditary Motor, Type V|DHMN5|DHMN5A|Dhmn-V|DHMN V|DHMN VA|Distal Hereditary Motor Neuronopathy, Type V|Distal Hereditary Motor Neuropathy, Type V|Distal Spinal Muscular Atrophy, Type V|DSMAV|DSMAVA|HMN5|HMN5A|HMN V|HMN VA|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA|Neuropathy, Distal Hereditary Motor, Type V|NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA|Spinal Muscular Atrophy, Distal Type V|Spinal Muscular Atrophy, Distal, Type V|SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA|Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
C565700|610213||Aneurysm, Intracranial Berry, 4|ANIB4
D050380||Monckeberg Medial Calcific Sclerosis|Calcific Scleroses, Medial|Calcific Sclerosis, Medial|Medial Calcific Scleroses|Medial Calcific Sclerosis|M&#246;nckeberg Medial Calcific Sclerosis|Monckeberg Sclerosis|M&#246;nckeberg Sclerosis|Monckeberg&apos;s Medial Calcific Sclerosis|M&#246;nckeberg&apos;s Medial Calcific Sclerosis|Monckeberg&apos;s Sclerosis|Monckebergs Sclerosis|M&#246;nckeberg&apos;s Sclerosis|M&#246;nckebergs Sclerosis|Scleroses, Medial Calcific|Sclerosis, Medial Calcific|Sclerosis, Monckeberg Medial Calcific|Sclerosis, M&#246;nckeberg Medial Calcific|Sclerosis, Monckeberg&apos;s|Sclerosis, M&#246;nckeberg&apos;s
D014720||Vesicular Exanthema of Swine|Swine Vesicular Exanthema|Swine Vesicular Exanthemas
D048070||Fetal Nutrition Disorders|Fetal Malnutrition|Fetal Nutrition Disorder|Malnutrition, Fetal|Nutrition Disorder, Fetal|Nutrition Disorders, Fetal
D002759||Adenoma, Bile Duct|Adenomas, Bile Duct|Bile Duct Adenoma|Bile Duct Adenomas|Cholangioma|Cholangiomas
D001424||Bacterial Infections|Bacterial Infection|Infection, Bacterial|Infections, Bacterial
D001423||Bacterial Infections and Mycoses
C563551|159595||Myeloproliferative Syndrome, Transient|Leukemia, Transient|MST|TAM|Transient Abnormal Myelopoiesis
D002754||Choanal Atresia|Atresia, Choanal|Atresias, Choanal|Choanal Atresias
C567197|612712||Leber Congenital Amaurosis 13|LCA13|RETINITIS PIGMENTOSA 53, INCLUDED|RP53, INCLUDED
613563||NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA|CBL MUTATION-ASSOCIATED SYNDROME|CBL SYNDROME|NSLL
613558||DEAFNESS, AUTOSOMAL DOMINANT 51|CHROMOSOME 9q21.11 DUPLICATION SYNDROME|DFNA51
D014735||Vibrio Infections|Infections, Vibrio|Infection, Vibrio|Vibrio Infection
613559||COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7|COXPD7
C567390|612233||Leukodystrophy, Hypomyelinating, 4|HLD4|MITCHAP60 DISEASE|Mitochondrial Hsp60 Chaperonopathy
C564624|607101||Deafness, Autosomal Recessive 30|DFNB30
601583||WILMS TUMOR 5|WILMS TUMOR, SUSCEPTIBILITY TO|WT5|WTSL
607829|C564326||Mitral Valve Prolapse, Myxomatous 2|MMVP2|Myxomatous Mitral Valve Prolapse 2
C562692|237900||Hyperbilirubinemia, Transient Familial Neonatal|HBLRTFN|LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE, INCLUDED
D050398||Adamantinoma|Adamantinomas
C537139|600376||Osler-rendu-weber syndrome 2|INCLUDED|Telangiectasia, hereditary hemorrhagic, type 2|TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2;HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED,
254600|C562864||Myeloperoxidase Deficiency|MPOD|MPO Deficiency
C537652|601678||Bartter syndrome, antenatal type 1|Antenatal Bartter syndrome type 1|Bartter Syndrome, Antenatal, Type 1|Hyperprostaglandin E syndrome 1|Hypokalemic alkalosis with hypercalciuria, antenatal|Hypokalemic Alkalosis With Hypercalciuria, Antenatal, 1
C538655|232200||Hepatorenal form of glycogen storage disease|GLUCOSE-6-PHOSPHATASE DEFICIENCY|GLYCOGEN STORAGE DISEASE I|GLYCOGEN STORAGE DISEASE Ia|Glycogen storage disease type IA|GSD1|GSD1A|GSD Ia|HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE|Hepatorenal glycogenosis|VON GIERKE DISEASE
D048089||Pneumonia of Calves, Enzootic|Calf Pneumonia, Enzootic|Enzootic Calf Pneumonia|Enzootic Calf Pneumonias|Enzootic Pneumonia of Calves|Pneumonia, Enzootic Calf|Pneumonias, Enzootic Calf
613550||NEPHRONOPHTHISIS 11|NPHP11
C537856|193003||Nystagmus 4, congenital, autosomal dominant|NYS4|Vestibulocerebellar disorder with predominant ocular signs
C535502|600204||Epiphyseal dysplasia, multiple, 2|EDM2|Multiple epiphyseal dysplasia, 2
D048090||Bovine Respiratory Disease Complex
C567206|612657||Cone-Rod Dystrophy 12|CORD12
257910|C564935||Oculopalatocerebral Syndrome|Oculopalatocerebral Dwarfism|OPC DWARFISM
C567070|300636||Atypical Mycobacteriosis, Familial, X-Linked 1|AMCBX1|Atypical Mycobacterial Infection, Disseminated, X-Linked 1|Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1|Mycobacterial Disease, Susceptibility To, X-Linked 1
C537568|311150||Jensen syndrome|JENSEN SYNDROME|Nerve deafness optic nerve atrophy, and dementia|Opticoacoustic Nerve Atrophy With Dementia|Opticoacustic nerve atrophy with dementia|Syndrome of opticoacoustic nerve atrophy with dementia
C535857|158300||Hecht syndrome|Arthrogryposis, Distal, Type 7|DA7|HECHT SYNDROME|MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS|Trismus-pseudocamptodactyly|Trismus-Pseudocamptodactyly Syndrome
C537853|310700||Nystagmus 1, congenital, X- linked|NYS1|Nystagmus 1, Congenital, X-Linked|Nystagmus 1, Infantile, X-Linked|Nystagmus, congenital motor, 1|NYSTAGMUS, INFANTILE IDIOPATHIC, FORMERLY;IIN, FORMERLY NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED|XIPAN, INCLUDED|XLPAN, INCLUDED
D001404||Babesiosis|Babesia Parasite Infection|Babesia Parasite Infections|Babesiases|Babesiasis|Babesioses|Babesioses, Human|Babesiosis, Human|Human Babesioses|Human Babesiosis|Infection, Babesia Parasite|Infections, Babesia Parasite|Piroplasmoses|Piroplasmosis
D044903|256450||Congenital Hyperinsulinism|Congenital Hyperinsulinisms|Familial Hyperinsulinemic Hypoglycemia 1|Familial Hyperinsulinism|Familial Hyperinsulinisms|HHF1|HHF2|Hyperinsulinemia Hypoglycemia of Infancy|Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia|Hyperinsulinemic Hypoglycemia, Familial, 1|Hyperinsulinemic Hypoglycemia, Familial, 2|Hyperinsulinemic Hypoglycemia, Persistent|Hyperinsulinemic Hypoglycemias, Persistent|Hyperinsulinism, Congenital|Hyperinsulinism, Familial|HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS|Hyperinsulinism, Neonatal|Hyperinsulinisms, Congenital|Hyperinsulinisms, Familial|Hyperinsulinisms, Neonatal|Hypoglycemia, Hyperinsulinemic, of Infancy|Hypoglycemia, Persistent Hyperinsulinemic|Hypoglycemia, PHHI|Hypoglycemias, Persistent Hyperinsulinemic|Hypoglycemias, PHHI|Infancy Hyperinsulinemia Hypoglycemia|Infancy Hyperinsulinemia Hypoglycemias|Neonatal Hyperinsulinism|Neonatal Hyperinsulinisms|NESIDIOBLASTOSIS|NESIDIOBLASTOSIS OF PANCREAS|Persistent Hyperinsulinemia Hypoglycemia of Infancy|Persistent Hyperinsulinemic Hypoglycemia|PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY|Persistent Hyperinsulinemic Hypoglycemias|PHHI|PHHI Hypoglycemia|PHHI Hypoglycemias
C565690|610678||Combined Oxidative Phosphorylation Deficiency 4|COXPD4
D001405||Reflex, Babinski|Babinski Reflex|Babinski Reflexes|Babinski Sign|Babinski Sign Absent|Babinski Sign Negative|Babinski Sign Positive|Babinski Signs|Babinski&apos;s Reflex|Babinski&apos;s Sign|Babinski&apos;s Signs|Extensor Plantar Reflex|Extensor Plantar Response|Extensor Plantar Responses|Great Toe Paradoxical Extensor Reflex|Paradoxical Extensor Reflex, Great Toe|Plantar Reflex, Extensor|Plantar Response, Extensor|Plantar Responses, Extensor|Reflex, Babinski&apos;s|Reflexes, Babinski|Reflex, Extensor Plantar|Response, Extensor Plantar|Responses, Extensor Plantar|Signs, Babinski&apos;s
C536482|191830||Hereditary renal agenesis|Bilateral renal agenesis|HEREDITARY RENAL APLASIA|HRA|Potter Syndrome|RENAL ADYSPLASIA|Renal agenesis|RENAL APLASIA|RENAL HYPODYSPLASIA/APLASIA 1|RHDA1|Urogenital adysplasia, hereditary
D045825||Fusobacteriaceae Infections|Fusobacteriaceae Infection|Infection, Fusobacteriaceae|Infections, Fusobacteriaceae
D001749|109800||Urinary Bladder Neoplasms|Bladder Cancer|Bladder Cancers|Bladder Neoplasm|Bladder Neoplasms|Bladder Tumor|Bladder Tumors|Cancer, Bladder|Cancer of Bladder|Cancer of the Bladder|Cancer, Urinary Bladder|Malignant Tumor of Urinary Bladder|Neoplasm, Bladder|Neoplasms, Bladder|Neoplasm, Urinary Bladder|Tumor, Bladder|Tumors, Bladder|Urinary Bladder Cancer|Urinary Bladder Neoplasm
D016889|608089||Endometrial Neoplasms|Cancer, Endometrial|Cancer, Endometrium|Cancer of Endometrium|Cancer of the Endometrium|Cancers, Endometrial|Cancers, Endometrium|Carcinoma, Endometrial|Carcinoma of Endometrium|Carcinomas, Endometrial|Endometrial Cancer|Endometrial Cancers|Endometrial Carcinoma|Endometrial Carcinomas|Endometrial Neoplasm|Endometrium Cancer|Endometrium Cancers|Endometrium Carcinoma|Endometrium Carcinomas|Neoplasm, Endometrial|Neoplasms, Endometrial
D045826||Flavobacteriaceae Infections|Flavobacteriaceae Infection|Infection, Flavobacteriaceae|Infections, Flavobacteriaceae
D045823||Ileus
D014719||Vesicovaginal Fistula|Fistulas, Vesicovaginal|Fistula, Vesicovaginal|Vesicovaginal Fistulas
D045824||Desulfovibrionaceae Infections|Bilophila Infection|Bilophila Infections|Desulfovibrio Infection|Desulfovibrio Infections|Desulfovibrionaceae Infection|Infection, Bilophila|Infection, Desulfovibrio|Infection, Desulfovibrionaceae|Infection, Lawsonia|Infections, Bilophila|Infections, Desulfovibrio|Infections, Desulfovibrionaceae|Infections, Lawsonia|Lawsonia Infection|Lawsonia Infections
D045822||Intestinal Volvulus|Volvulus|Volvulus, Intestinal|Volvulus, Intestine
C537070|229070||Follicle-stimulating hormone deficiency, isolated|Isolated follicle-stimulating hormone (FSH) deficiency|Isolated FSH deficiency
614869||USHER SYNDROME, TYPE IJ|USH1J
C563981|600175||Spinal Muscular Atrophy, Distal, Congenital Nonprogressive|Spinal Muscular Atrophy, Congenital Benign, with Contractures
C564608|607200||Thyroid Dyshormonogenesis 6|Hypothyroidism, Congenital, due to Dyshormonogenesis, 6|TDH6|Thyroid Hormonogenesis, Genetic Defect in, 6
D014717||Vertigo|Brainstem Vertigo|Brain Stem Vertigo|Brainstem Vertigos|Central Nervous System Origin Vertigo|Central Origin Vertigo|Constant Vertigo|Essential Vertigo|Intermittant Vertigo|Paroxysmal Vertigo|Peripheral Vertigo|Positional Vertigo|Sensation, Spinning|Sensations, Spinning|Spinning Sensation|Spinning Sensations|Subjective Vertigo|Vertigo, Brainstem|Vertigo, Brain Stem|Vertigo, Central Nervous System Origin|Vertigo, Central Origin|Vertigo, Constant|Vertigo, Essential|Vertigo, Intermittant|Vertigo, Paroxysmal|Vertigo, Peripheral|Vertigo, Positional|Vertigos, Brainstem|Vertigo, Subjective
D045827||Cytophagaceae Infections|Cytophagaceae Infection|Flexibacteraceae Infection|Flexibacteraceae Infections|Infection, Cytophagaceae|Infection, Flexibacteraceae|Infections, Cytophagaceae|Infections, Flexibacteraceae
D014715||Vertebrobasilar Insufficiency|Artery Insufficiencies, Basilar|Artery Insufficiencies, Vertebral|Artery Insufficiency, Basilar|Artery Insufficiency, Vertebral|Artery Ischemia, Basilar|Artery Ischemias, Basilar|Artery Ischemias, Vertebral|Artery Ischemia, Vertebral|Artery Stenoses, Basilar|Artery Stenoses, Vertebral|Artery Stenosis, Basilar|Artery Stenosis, Vertebral|Basilar Artery Insufficiencies|Basilar Artery Insufficiency|Basilar Artery Ischemia|Basilar Artery Ischemias|Basilar Artery Stenoses|Basilar Artery Stenosis|Basilar Insufficiencies|Basilar Insufficiency|Dolichoectasias, Vertebrobasilar|Dolichoectasia, Vertebrobasilar|Insufficiencies, Basilar|Insufficiencies, Basilar Artery|Insufficiencies, Vertebral Artery|Insufficiencies, Vertebrobasilar|Insufficiencies, Vertebro-Basilar|Insufficiency, Basilar|Insufficiency, Basilar Artery|Insufficiency, Vertebral Artery|Insufficiency, Vertebrobasilar|Insufficiency, Vertebro-Basilar|Ischemia, Basilar Artery|Ischemias, Basilar Artery|Ischemias, Vertebral Artery|Ischemias, Vertebrobasilar|Ischemias, Vertebro-Basilar|Ischemia, Vertebral Artery|Ischemia, Vertebrobasilar|Ischemia, Vertebro-Basilar|Stenoses, Basilar Artery|Stenoses, Vertebral Artery|Stenosis, Basilar Artery|Stenosis, Vertebral Artery|Vertebral Artery Insufficiencies|Vertebral Artery Insufficiency|Vertebral Artery Ischemia|Vertebral Artery Ischemias|Vertebral Artery Stenoses|Vertebral Artery Stenosis|Vertebrobasilar Dolichoectasia|Vertebrobasilar Dolichoectasias|Vertebrobasilar Insufficiencies|Vertebro-Basilar Insufficiencies|Vertebro Basilar Insufficiency|Vertebro-Basilar Insufficiency|Vertebrobasilar Ischemia|Vertebro Basilar Ischemia|Vertebro-Basilar Ischemia|Vertebrobasilar Ischemias|Vertebro-Basilar Ischemias
D045828||Moraxellaceae Infections|Infection, Moraxella|Infection, Moraxellaceae|Infection, Psychobacter|Infections, Moraxella|Infections, Moraxellaceae|Infections, Psychobacter|Moraxellaceae Infection|Moraxella Infection|Moraxella Infections|Psychobacter Infection|Psychobacter Infections
C536587|203780||Alport syndrome, recessive type|ALPORT SYNDROME, AUTOSOMAL RECESSIVE
C567527|225410||Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive|Dermatosparaxis|EDS7C|EDS VIIC|Ehlers-Danlos Syndrome, Dermatosparaxis Type
601547||CATARACT 3, MULTIPLE TYPES|CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, CONGENITAL, CERULEAN TYPE, 2|CCA2|CTRCT3
D018297||Neoplasms, Cystic, Mucinous, and Serous
C566935|611488||Macular Degeneration, Age-Related, 10|ARMD10
D018299||Neoplasms, Ductal, Lobular, and Medullary|Ductal, Lobular, and Medullary Neoplasms
D018298||Mucoepidermoid Tumor|Mucoepidermoid Tumors|Tumor, Mucoepidermoid|Tumors, Mucoepidermoid
D018293||Cystadenoma, Serous|Cystadenomas, Serous|Serous Cystadenoma|Serous Cystadenomas
D018292||Cystadenoma, Papillary|Cystadenomas, Papillary|Papillary Cystadenoma|Papillary Cystadenomas
D018295||Neoplasms, Basal Cell|Basal Cell Cancer|Basal Cell Cancers|Basal Cell Neoplasm|Basal Cell Neoplasms|Cancer, Basal Cell|Cancers, Basal Cell|Cell Cancer, Basal|Cell Cancers, Basal|Cell Neoplasm, Basal|Cell Neoplasms, Basal|Neoplasm, Basal Cell
D061085||Agenesis of Corpus Callosum|Absence of Corpus Callosum|Ageneses, Corpus Callosum|Agenesis, Corpus Callosum|Corpus Callosum Absence|Corpus Callosum Absences|Corpus Callosum Ageneses|Corpus Callosum Agenesis|Corpus Callosum, Agenesis Of|Corpus Callosum Dysgeneses|Corpus Callosum Dysgenesis|Corpus Callosum Hypogeneses|Corpus Callosum Hypogenesis|Corpus Callosum Malformation|Dysgeneses, Corpus Callosum|Dysgenesis, Corpus Callosum|Hypogeneses, Corpus Callosum|Hypogenesis, Corpus Callosum
D018294||Neoplasms, Adnexal and Skin Appendage|Adnexal and Skin Appendage Neoplasms
278800|C535992||De Sanctis-Cacchione syndrome|Desanctis-Cacchione Syndrome|Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia|Xerodermic idiocy of de Sanctis and Cacchione
D044504||Enterocolitis, Neutropenic|Ileocecal Syndrome|Neutropenic Enterocolitis|Syndrome, Ileocecal
D018291||Cystadenoma, Mucinous|Cystadenomas, Mucinous|Mucinous Cystadenoma|Mucinous Cystadenomas
613530||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H|LGMD1H
D018290||Cervical Intraepithelial Neoplasia|Cervical Intraepithelial Neoplasia, Grade III|Cervical Intraepithelial Neoplasm|Cervical Intraepithelial Neoplasms|Intraepithelial Neoplasia, Cervical|Intraepithelial Neoplasm, Cervical|Intraepithelial Neoplasms, Cervical|Neoplasia, Cervical Intraepithelial|Neoplasm, Cervical Intraepithelial|Neoplasms, Cervical Intraepithelial
C567803|613038||Pituitary Hormone Deficiency, Combined, 1|CPHD1
C535731|224050||Dysequilibrium syndrome|Autosomal Recessive Cerebellar Ataxia with Mental Retardation|Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification|CAMRQ1|CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1|Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive|Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1|Cerebellar disorder, nonprogressive, with mental retardation|Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion|Cerebellar hypoplasia, VLDLR associated|Cerebellar Hypoplasia, VLDLR-Associated|Chmrq1|DES|Des-Vldlr|DYSEQUILIBRIUM SYNDROME|Dysequilibrium Syndrome-Vldlr|Vldlr-Associated Cerebellar Hypoplasia|Vldlrch|Vldlr-Ch
C535388|301835||Arts syndrome|ARTS|Ataxia-Deafness-Optic Atrophy, Lethal|Ataxia, Fatal X-Linked, with Deafness and Loss of Vision|MENTAL RETARDATION, X-LINKED, SYNDROMIC 18|MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE|MRXS18|MRXSARTS|X-linked fatal ataxia with deafness and loss of vision
612576|C567245||Split-Hand/Foot Malformation With Long Bone Deficiency 3|CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME|SHFLD3|SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3
D031261||Poult Enteritis Mortality Syndrome|Mortality Syndrome, Spiking|Spiking Mortality Syndrome
D018289||Carcinoma, Verrucous|Carcinomas, Verrucous|Verrucous Carcinoma|Verrucous Carcinomas
D006012|232600||Glycogen Storage Disease Type V|Deficiencies, Muscle Phosphorylase|deficiencies, Myophosphorylase|Deficiencies, PYGM|Deficiency, Muscle Phosphorylase|deficiency, Myophosphorylase|Deficiency, PYGM|Disease, McArdle|Disease, McArdle&apos;s|Glycogenosis 5|Glycogenosis 5s|Glycogen Storage Disease Type 5|Glycogen Storage Disease V|GSD5|GSD V|McArdle Disease|McArdle&apos;s Disease|McArdles Disease|Mcardle Syndrome|Mcardle Syndromes|McArdle Type Glycogen Storage Disease|Muscle Glycogen Phosphorylase Deficiency|Muscle Phosphorylase Deficiencies|Muscle Phosphorylase Deficiency|Myophosphorylase deficiencies|Myophosphorylase deficiency|Phosphorylase Deficiencies, Muscle|Phosphorylase Deficiency, Muscle|PYGM Deficiencies|PYGM Deficiency|Syndrome, Mcardle|Syndromes, Mcardle
C536759|309555||X-linked mental retardation Gustavson type|GUST|Gustavson syndrome|Mental retardation with optic atrophy, deafness, and seizures|Mental retardation X-linked severe Gustavson type
C569516||Trichophyton infection
C566715|180105||Retinitis Pigmentosa 10|RP10
D017488|113800||Hyperkeratosis, Epidermolytic|BCIE|BIE|Bullous Congenital Ichthyosiform Erythroderma|Bullous Erythroderma Ichthyosiforme|Bullous Erythroderma Ichthyosiformes|Bullous Erythroderma Ichthyosiformis Congenita of Brocq|Bullous Ichthyosiform Erythroderma|Bullous Ichthyosiform Erythroderma Congenital|Bullous Ichthyosiform Erythrodermas|Congenital Bullous Ichthyosiform Erythroderma|Congenital Ichthyosiform Erythroderma, Bullous|EHK|Epidermolytic Hyperkeratoses|Epidermolytic Hyperkeratosis|Epidermolytic Ichthyosis|EPIDERMOLYTIC ICHTHYOSIS EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED|Erythroderma, Bullous Ichthyosiform|Erythroderma Ichthyosiforme, Bullous|Erythroderma Ichthyosiformes, Bullous|Erythrodermas, Bullous Ichthyosiform|Hyperkeratoses, Epidermolytic|Ichthyosiforme, Bullous Erythroderma|Ichthyosiform Erythroderma, Bullous|Ichthyosiform Erythroderma, Bullous Congenital|Ichthyosiform Erythrodermas, Bullous|Ichthyosiformes, Bullous Erythroderma
613517||MICROPHTHALMIA, ISOLATED 6|MCOP6|MICROPHTHALMIA, POSTERIOR NONSYNDROMIC
C535349|125520||Cayler cardiofacial syndrome|ACF|Asymmetric crying facies|Cayler&apos;s syndrome|Cayler syndrome|Depressor Anguli Oris Muscle, Hypoplasia Of|Facial paresis partial unilateral|Facial Paresis, Partial, Unilateral|Partial unilateral facial paralysis
C537330|260400||Shwachman syndrome|Congenital Lipomatosis of Pancreas|Lipomatosis of pancreas, congenital|Metaphyseal Chondrodysplasia, Shwachman Type|Pancreatic insufficiency and bone marrow dysfunction|SDS|Shwachman-Bodian-Diamond Syndrome|Shwachman-Bodian syndrome|Shwachman-Diamond-Oski Syndrome|Shwachman-Diamond syndrome
D018275||Carcinoma, Lobular|Carcinomas, Lobular|Lobular Carcinoma|Lobular Carcinomas
D018277||Carcinoma, Mucoepidermoid|Carcinomas, Mucoepidermoid|Mucoepidermoid Carcinoma|Mucoepidermoid Carcinomas
D018276||Carcinoma, Medullary|Carcinomas, Medullary|Medullary Carcinoma|Medullary Carcinomas
D018270||Carcinoma, Ductal, Breast|Carcinoma, Infiltrating Duct|Carcinoma, Invasive Ductal, Breast|Carcinoma, Mammary Ductal|Carcinomas, Infiltrating Duct|Carcinomas, Mammary Ductal|Invasive Ductal Carcinoma, Breast|Mammary Ductal Carcinoma|Mammary Ductal Carcinomas
611096|C567013||Mental Retardation, Autosomal Recessive 10|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 20|MRT10|MRT20
D018273||Carcinoma, Islet Cell|Carcinomas, Islet Cell|Islet Cell Carcinoma|Islet Cell Carcinomas|Islet Cell Tumor, Malignant
C564513|300436||Mental Retardation, X-Linked 46|MRX46
613507||GLYCOGEN STORAGE DISEASE XV|GLYCOGENIN DEFICIENCY|GSD15|GSD XV|GYG1 DEFICIENCY
613508||SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1|HYPONATREMIA, INCLUDED|SSQTL1
C537113|308940||Leiomyomatosis, esophageal and vulval, with nephropathy|Alport Syndrome And Diffuse Leiomyomatosis|Alport syndrome with diffuse leiomyomatosis|ATS-DL|CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME|Diffuse leiomyomatosis in Alport syndrome|Diffuse Leiomyomatosis With Alport Syndrome|DL-ATS|LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME|LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
D031249||Erdheim-Chester Disease|Erdheim Chester Disease|Granulomatosis, Lipid|Lipid Granulomatosis
D018268||Adrenocortical Carcinoma|Adrenal Cortical Carcinoma|Adrenal Cortical Carcinomas|Adrenocortical Carcinomas|Carcinoma, Adrenal Cortical|Carcinoma, Adrenocortical|Carcinomas, Adrenal Cortical|Carcinomas, Adrenocortical
D018267||Carcinoma, Acinar Cell|Acinar Carcinoma|Acinar Carcinomas|Acinar Cell Adenocarcinoma|Acinar Cell Adenocarcinomas|Acinar Cell Carcinoma|Acinar Cell Carcinomas|Acinic Cell Adenocarcinoma|Acinic Cell Adenocarcinomas|Acinic Cell Carcinoma|Acinic Cell Carcinomas|Acinic Cell Tumor|Acinic Cell Tumors|Adenocarcinoma, Acinar Cell|Adenocarcinoma, Acinic Cell|Adenocarcinomas, Acinar Cell|Adenocarcinomas, Acinic Cell|Carcinoma, Acinar|Carcinoma, Acinic Cell|Carcinomas, Acinar|Carcinomas, Acinar Cell|Carcinomas, Acinic Cell|Serous Acinar Adenoma|Tumor, Acinic Cell|Tumors, Acinic Cell
D057831||Lemierre Syndrome|Disease, Lemierre|Disease, Lemierre&apos;s|Lemierre Disease|Lemierre&apos;s Disease|Lemierres Disease|Lemierre&apos;s Syndrome|Lemierres Syndrome|Postanginal Sepses|Postanginal Sepsis|Sepses, Postanginal|Sepsis, Postanginal|Syndrome, Lemierre|Syndrome, Lemierre&apos;s
D018269||Carcinoma, Endometrioid|Adenocarcinoma, Endometrioid|Adenocarcinomas, Endometrioid|Carcinomas, Endometrioid|Endometrioid Adenocarcinoma|Endometrioid Adenocarcinomas|Endometrioid Carcinoma|Endometrioid Carcinomas
248250|C537153||Hypomagnesemia primary|HOMG3|Hypomagnesemia 3, Renal|Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING, INCLUDED|Hypomagnesemia, isolated renal|Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium|Magnesium, defect in renal tubular transport of
D018286||Carcinoma, Giant Cell|Carcinomas, Giant Cell|Cell Carcinoma, Giant|Cell Carcinomas, Giant|Giant Cell Carcinoma|Giant Cell Carcinomas
D018285||Klatskin&apos;s Tumor|Klatskins Tumor|Klatskin Tumor|Tumor, Klatskin&apos;s
157600||MIRROR MOVEMENTS 1|BIMANUAL SYNERGIA|MIRROR MOVEMENTS, CONGENITAL|MRMV1
608423|C564242||Muscular Dystrophy, Limb-Girdle, Type 1F|LGMD1F
D018287||Carcinoma, Large Cell|Carcinomas, Large Cell|Cell Carcinoma, Large|Cell Carcinomas, Large|Large Cell Carcinoma|Large Cell Carcinomas
601518||PROSTATE CANCER, HEREDITARY, 1|HPC1|PRCA1
D018282||Cystadenocarcinoma, Mucinous|Cystadenocarcinomas, Mucinous|Mucinous Cystadenocarcinoma|Mucinous Cystadenocarcinomas
D018281||Cholangiocarcinoma|Cholangiocarcinomas|Cholangiocellular Carcinoma
D018284||Cystadenocarcinoma, Serous|Cystadenocarcinomas, Serous|Serous Cystadenocarcinoma|Serous Cystadenocarcinomas
D018283||Cystadenocarcinoma, Papillary|Cystadenocarcinomas, Papillary|Papillary Cystadenocarcinoma|Papillary Cystadenocarcinomas
C536642|270700||Spastic paraplegia 15, autosomal recessive|Kjellin syndrome|Recessive spastic paraplegia with retinal degeneration|Spastic paraplegia and retinal degeneration|SPG15
270100||HETEROTAXY, VISCERAL, 5, AUTOSOMAL|HTX5|SITUS INVERSUS VISCERUM|SIV
D018280||Carcinoma, Skin Appendage|Appendage Carcinoma, Skin|Appendage Carcinomas, Skin|Carcinomas, Skin Appendage|Skin Appendage Carcinoma|Skin Appendage Carcinomas
D015324|266150||Pyruvate Carboxylase Deficiency Disease|Ataxia with Lactic Acidosis 2|Ataxia with Lactic Acidosis II|Ataxia with Lactic Acidosis, Type II|Deficiency Disease, Pyruvate Carboxylase|Deficiency, Pyruvate Carboxylase|Lactic Acidosis with Ataxia, Type II|LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY|LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY|PC DEFICIENCY|Pyruvate Carboxylase Deficiency|Type II Ataxia with Lactic Acidosis
D043202||Steroid Metabolism, Inborn Errors|Congenital Errors of Steroid Metabolism|Inborn Errors of Steroid Metabolism|Steroid Metabolic Diseases, Inborn
D043204||Mineralocorticoid Excess Syndrome, Apparent|Apparent Mineralocorticoid Excess Syndrome
613502||AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT|AGM4
C566826|168500||Parietal Foramina|Catlin Marks|Cranium Bifidum, Hereditary|CRANIUM BIFIDUM, HEREDITARY PARIETAL FORAMINA 1, INCLUDED|Cranium Bifidum Occultum|Enlarged Parietal Foramina|Foramina Parietalia Permagna|FPP|Parietal Foramina, Symmetric|PFM|PFM1, INCLUDED
D003456|219050||Cryptorchidism|Abdominal Cryptorchidism|Bilateral Cryptorchidism|Cryptorchidism, Abdominal|Cryptorchidism, Bilateral|Cryptorchidism, Inguinal|Cryptorchidism, Unilateral|Cryptorchidism, Unilateral Or Bilateral|Cryptorchism|Inguinal Cryptorchidism|Testes, Undescended|Testis, Undescended|Undescended Testes|Undescended Testis|Unilateral Cryptorchidism
D016891|600666||Polycystic Kidney, Autosomal Dominant|ADPKD|Adult Polycystic Kidney Disease|Adult Polycystic Kidney Disease Type 1|Adult Polycystic Kidney Disease Type 2|APKD2|APKD3|Autosomal Dominant Polycystic Kidney|Kidney, Polycystic, Autosomal Dominant|PKD2|PKD3|Polycystic Kidney Disease 2|POLYCYSTIC KIDNEY DISEASE 3|POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT|Polycystic Kidney Disease, Adult|Polycystic Kidney Disease, Adult Type 2|Polycystic Kidney Disease, Adult, Type II|POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III|Polycystic Kidney Disease, Autosomal Dominant|Polycystic Kidney Disease, Type 2|POLYCYSTIC KIDNEY DISEASE, TYPE 3|Polycystic Kidney, Type 1 Autosomal Dominant Disease|Polycystic Kidney, Type 2 Autosomal Dominant Disease
D018279||Carcinoma, Signet Ring Cell|Signet Ring Cell Carcinoma
D018278||Carcinoma, Neuroendocrine|Carcinomas, Neuroendocrine|Neuroendocrine Carcinoma|Neuroendocrine Carcinomas
D017042||Phenylketonuria, Maternal|in Phenylketonuria, Pregnancy|in Phenylketonurias, Pregnancy|Maternal Phenylalanine Hydroxylase Deficiency Disease|Maternal Phenylketonuria|Phenylalanine-Hydroxylase Deficiency Disease, Maternal|Phenylketonuria, Pregnancy in|Phenylketonurias, Pregnancy in|PKU, Maternal|Pregnancy in Phenylketonuria|Pregnancy in Phenylketonurias
D017043||Chalazion|Chalazia|Cyst, Meibomian|Meibomian Cyst
C563287||Prepapillary Vascular Loops|Preretinal Vascular Loops
D018376||Cardiovascular Abnormalities|Abnormalities, Cardiovascular|Abnormality, Cardiovascular|Cardiovascular Abnormality
D018370||Leukocyte-Adhesion Deficiency Syndrome|Deficiency Syndrome, Leukocyte Adhesion|Deficiency Syndrome, Leukocyte-Adhesion|Deficiency Syndromes, Leukocyte-Adhesion|Leukocyte Adhesion Deficiency Syndrome|Leukocyte-Adhesion Deficiency Syndromes|Syndrome, Leukocyte-Adhesion Deficiency|Syndromes, Leukocyte-Adhesion Deficiency
600084|C564004||Macrocytosis, Familial
D005058||Eunuchism|Eunuchoidism|Hypogonadism, Male
D006396||Hematemesis|Hematemeses
D057971||Anterior Capsular Rupture, Ocular
278000|C531854||Lysosomal acid lipase deficiency|Acid cholesteryl ester hydrolase deficiency, type 2|Acid lipase disease|CESD|Cholesterol ester hydrolase deficiency|CHOLESTEROL ESTER HYDROLASE DEFICIENCY WOLMAN DISEASE, INCLUDED|CHOLESTERYL ESTER STORAGE DISEASE|LAL Deficiency|LIPA deficiency
D006394||Hemangiosarcoma|Angiosarcoma|Angiosarcomas|Hemangiosarcomas
D057973||Dent Disease|Dent&apos;s Disease|Dents Disease|Disease, Dent|Disease, Dents|Disease, Dent&apos;s
D006395||Hemarthrosis|Hemarthroses
C565701|610212||Deafness, Autosomal Recessive 66|DFNB66
D006392||Hemangioma, Cavernous|Angioma, Cavernous|Cavernous Angioma|Cavernous Hemangioma|Cavernous Hemangiomas|Hemangiomas, Cavernous|Hemangiomas, Strawberry|Hemangioma, Strawberry|Strawberry Hemangioma|Strawberry Hemangiomas
D006393||Hemangiopericytoma|Hemangiopericytomas
D006390||Hemangioendothelioma|Endotheliomas, Vascular|Endothelioma, Vascular|Hemangio Endothelioma|Hemangio-Endothelioma|Hemangioendotheliomas|Hemangio-Endotheliomas|Vascular Endothelioma|Vascular Endotheliomas
D006391||Hemangioma|Angioma|Chorangioma|Chorangiomas|Chorioangioma|Chorioangiomas|Hemangioma, Histiocytoid|Hemangioma, Intramuscular|Hemangiomas|Hemangiomas, Histiocytoid|Hemangiomas, Intramuscular|Histiocytoid Hemangioma|Histiocytoid Hemangiomas|Intramuscular Hemangioma|Intramuscular Hemangiomas
C563291||Multiple Epiphyseal Dysplasia with Robin Phenotype|Epiphyseal Dysplasia, Multiple, with Robin Phenotype
D056647||Systemic Vasculitis|Systemic Vasculitides|Vasculitides, Systemic|Vasculitis, Systemic
C563290||Dyssegmental Dysplasia with Glaucoma
D056648||Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis|ANCA-Associated Vasculitide|ANCA Associated Vasculitides|ANCA-Associated Vasculitides|ANCA Associated Vasculitis|ANCA-Associated Vasculitis|Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis|Pauci-Immune Vasculitides|Pauci Immune Vasculitis|Pauci-Immune Vasculitis|Vasculitide, ANCA-Associated|Vasculitides, ANCA-Associated|Vasculitides, Pauci-Immune|Vasculitis, ANCA-Associated|Vasculitis, Pauci-Immune
D019698||Hepatitis C, Chronic|Chronic Hepatitis C
D018366||Vasculitis, Leukocytoclastic, Cutaneous|Allergic Cutaneous Angiitides|Allergic Cutaneous Angiitis|Allergic Cutaneous Vasculitides|Allergic Cutaneous Vasculitis|Allergic Vasculitides, Cutaneous|Allergic Vasculitis, Cutaneous|Angiitides, Allergic Cutaneous|Angiitides, Cutaneous Leukocytoclastic|Angiitides, Hypersensitivity|Angiitis, Allergic Cutaneous|Angiitis, Cutaneous Leukocytoclastic|Angiitis, Hypersensitivity|Cutaneous Allergic Vasculitides|Cutaneous Allergic Vasculitis|Cutaneous Angiitides, Allergic|Cutaneous Angiitis, Allergic|Cutaneous Leukocytoclastic Angiitides|Cutaneous Leukocytoclastic Angiitis|Cutaneous Leukocytoclastic Vasculitides|Cutaneous Leukocytoclastic Vasculitis|Cutaneous Vasculitides, Allergic|Cutaneous Vasculitis, Allergic|Hypersensitivity Angiitides|Hypersensitivity Angiitis|Hypersensitivity Vasculitides|Hypersensitivity Vasculitis|Leukocytoclastic Angiitides, Cutaneous|Leukocytoclastic Angiitis, Cutaneous|Leukocytoclastic Vasculitides, Cutaneous|Leukocytoclastic Vasculitis, Cutaneous|Vasculitides, Allergic Cutaneous|Vasculitides, Cutaneous Allergic|Vasculitides, Cutaneous Leukocytoclastic|Vasculitides, Hypersensitivity|Vasculitis, Allergic Cutaneous|Vasculitis, Cutaneous Allergic|Vasculitis, Cutaneous Leukocytoclastic|Vasculitis, Hypersensitivity
D017036||Epilepsia Partialis Continua|Chronic Progressive Epilepsia Partialis Continua|Epilepsia Partialis Continua, Chronic Progressive|Epilepsies, Kojevnikov&apos;s|Epilepsy, Kojevnikov&apos;s|Epilepsy, Kojewnikov&apos;s|Kojevnikov Epilepsy|Kojevnikov&apos;s Epilepsies|Kojevnikov&apos;s Epilepsy|Kojewnikov Epilepsy|Kojewnikov&apos;s Epilepsy|Kojewnikow&apos;s Syndrome|Kojewnikow Syndrome|Kozhevnikov&apos;s Syndrome|Kozhevnikov Syndrome|Kozhevnikow Syndrome, Progressive Variant|Progressive Variant of Kozhevnikow Syndrome|Syndrome, Kojewnikow|Syndrome, Kojewnikow&apos;s|Syndrome, Kozhevnikov|Syndrome, Kozhevnikov&apos;s
C563294||Cataract, Congenital, Cerulean Type, 2|Cataract, Congenital, Blue Dot Type, 2
C563293||Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
193200||VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6|VAMAS6
C563760|609257||Myopia 8|MYP8
C563296||Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
D018382||Thyroid Hormone Resistance Syndrome|Generalized Resistance to Thyroid Hormone|Generalized Thyroid Hormone Resistance|Hormone Resistance, Thyroid|Refetoff DeWind DeGroot Syndrome|Refetoff-DeWind-DeGroot Syndrome|Refetoff Syndrome|Resistance, Thyroid Hormone|Syndrome, Refetoff|Syndrome, Refetoff-DeWind-DeGroot|Thyroid Hormone Resistance
C565752|604765||Cardiomyopathy, Dilated, 1i|CMD1I
C536641|162091||Schwannomatosis|Neurilemmomatosis, congenital cutaneous|SCHWANNOMATOSIS 1|SWNTS1
115700||CATARACT 4, MULTIPLE TYPES|CACA|CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, CONGENITAL, CERULEAN TYPE, 3|CATARACT, CRYSTALLINE ACULEIFORM|CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL|CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET|CCA3|CTRCT4|PCC
C537617|261540||Krause-Kivlin syndrome|KRAUSE-KIVLIN SYNDROME|Krause-Van Schooneveld-Kivlin Syndrome|Peters Anomaly-Short Limb Dwarfism Syndrome|Peters anomaly with short limb dwarfism|Peters Anomaly With Short-Limb Dwarfism|Peters-plus syndrome|Peters Plus Syndrome|Peters&apos; Plus Syndrome|Peters&apos;-Plus Syndrome
D005067||Euthyroid Sick Syndromes|Euthyroid Sick Syndrome|High T4 Syndrome|High T4 Syndromes|Low T3 and Low T4 Syndrome|Low T3 High T4 Syndrome|Low T3-High T4 Syndrome|Low T3 Low T4 Syndrome|Low T3-Low T4 Syndrome|Low T3 Syndrome|Non Thyroidal Illness Syndrome|Non-Thyroidal Illness Syndrome|Sick Euthyroid Syndrome|Syndrome, Non-Thyroidal Illness|Syndrome, Sick Euthyroid|Syndromes, Non-Thyroidal Illness
D006398||Hematocele|Hematoceles|Hematocele, Scrotal|Hematoceles, Scrotal|Hematoceles, Testicular|Hematocele, Testicular|Scrotal Hematocele|Scrotal Hematoceles|Testicular Hematocele|Testicular Hematoceles
153640|C535507||MYH9-Related Disorders|Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia|Alport syndrome with macrothrombocytopenia|ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY|APSM, FORMERLY|Autosomal Dominant Myh9 Spectrum Disorders|BDPLT6|BLEEDING DISORDER, PLATELET-TYPE, 6|Deafness, Autosomal Dominant 17|DFNA17|Dohle leukocyte inclusions with giant platelets|Epstein syndrome|Fechtner&apos;s syndrome|Fechtner syndrome|FTNS|Macrothrombocytopathy, Nephritis, and Deafness|Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions|MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS|MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS|MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS|Macrothrombocytopenia with leukocyte inclusions|May-Hegglin anomaly|MHA|MYH9 Gene-Related Autosomal Macrothrombocytopenias|MYH9RD|MYH9-Related Disease|Myh9-Related Disorder|Myh9-Related Macrothrombocytopenias|SBS|Sebastian platelet syndrome|Sebastian syndrome
D006399||Hematocolpos
227300||FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1|F5F8D1|FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I|FMFD1|FMFD I|MCFD1|MULTIPLE COAGULATION FACTOR DEFICIENCY I
D056650||Vulvodynia|Generalized Vulvodynia|Generalized Vulvodynias|Vestibulodynia|Vestibulodynias|Vulvodynia, Generalized|Vulvodynias|Vulvodynias, Generalized
D005077||Exanthema Subitum|Disease, Sixth|Roseola Infantum|Sixth Disease
D005076||Exanthema|Exanthem|Rash|Rash, Skin|Skin Rash
D056653||Rheumatoid Vasculitis|Rheumatoid Vasculitides|Vasculitides, Rheumatoid|Vasculitis, Rheumatoid
C566094|186000||Synpolydactyly 1|SPD1|Syndactyly, Type II|SYNDACTYLY, TYPE II SYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED
D029021||Peste-des-Petits-Ruminants|Peste des Petits Ruminants|Pseudorinderpest
D015464|608232||Leukemia, Myelogenous, Chronic, BCR-ABL Positive|ACML, INCLUDED|Chronic Granulocytic Leukemia|Chronic Granulocytic Leukemias|Chronic Myelocytic Leukemia|Chronic Myelocytic Leukemias|Chronic Myelogenous Leukemia|Chronic Myelogenous Leukemias|Chronic Myeloid Leukemia|Chronic Myeloid Leukemias|CML|Granulocytic Leukemia, Chronic|Granulocytic Leukemias, Chronic|Leukemia, Chronic Granulocytic|Leukemia, Chronic Myelocytic|Leukemia, Chronic Myelogenous|LEUKEMIA, CHRONIC MYELOGENOUS LEUKEMIA, CHRONIC MYELOID, ATYPICAL, INCLUDED|Leukemia, Chronic Myeloid|Leukemia, Granulocytic, Chronic|Leukemia, Myelocytic, Chronic|Leukemia, Myelogenous, Chronic|Leukemia, Myelogenous, Ph1 Positive|Leukemia, Myelogenous, Ph1-Positive|Leukemia, Myeloid, Chronic|Leukemia, Myeloid, Ph1 Positive|Leukemia, Myeloid, Ph1-Positive|Leukemia, Myeloid, Philadelphia Positive|Leukemia, Myeloid, Philadelphia-Positive|Leukemia, Ph1-Positive Myelogenous|Leukemia, Ph1-Positive Myeloid|Leukemia, Philadelphia-Positive Myeloid|Leukemias, Chronic Granulocytic|Leukemias, Chronic Myelocytic|Leukemias, Chronic Myelogenous|Leukemias, Chronic Myeloid|Leukemias, Ph1-Positive Myelogenous|Leukemias, Ph1-Positive Myeloid|Leukemias, Philadelphia-Positive Myeloid|Myelocytic Leukemia, Chronic|Myelocytic Leukemias, Chronic|Myelogenous Leukemia, Chronic|Myelogenous Leukemia, Ph1 Positive|Myelogenous Leukemia, Ph1-Positive|Myelogenous Leukemias, Chronic|Myelogenous Leukemias, Ph1-Positive|Myeloid Leukemia, Chronic|Myeloid Leukemia, Ph1 Positive|Myeloid Leukemia, Ph1-Positive|Myeloid Leukemia, Philadelphia Positive|Myeloid Leukemia, Philadelphia-Positive|Myeloid Leukemias, Chronic|Myeloid Leukemias, Ph1-Positive|Myeloid Leukemias, Philadelphia-Positive|Ph1-Positive Myelogenous Leukemia|Ph1-Positive Myelogenous Leukemias|Ph1-Positive Myeloid Leukemia|Ph1-Positive Myeloid Leukemias|Philadelphia-Positive Myeloid Leukemia|Philadelphia-Positive Myeloid Leukemias
611097|C567012||Mental Retardation, Autosomal Recessive 11|MRT11
C564114|308930||Leigh Syndrome, X-Linked
608931||MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|CMS1D|CMS1E, INCLUDED|CMS Id MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED|CMS Ie, INCLUDED|MYASTHENIC SYNDROME, CONGENITAL, Ie, INCLUDED|MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|MYASTHENIC SYNDROME, CONGENITAL, TYPE Id
C538270|602483||Auriculo-condylar syndrome|ARCND1|Auriculocondylar syndrome|AURICULOCONDYLAR SYNDROME 1|Ears prominent and constricted|Question mark ear|Question Mark Ears Syndrome|Question-Mark Ear Syndrome
D018352||Coronavirus Infections|Coronavirus Infection|Infection, Coronavirus|Infections, Coronavirus
C565711|610170||Kyphoscoliosis 1|KYPSC1
D018354||Alphavirus Infections|Alphavirus Infection|Infection, Alphavirus|Infections, Alphavirus
C564595||Mammographic Density
D018353||Rhabdoviridae Infections|Infection, Rhabdoviridae|Infections, Rhabdoviridae|Rhabdoviridae Infection
C567556|612838||Brugada Syndrome 5|BRGDA5|CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
C563268||Ectopia Lentis with Ectopia of Pupil|Ectopia Lentis et Pupillae
C562725|612423||Prekallikrein Deficiency|Fletcher Factor Deficiency|PKK Deficiency
D006374||Helminthiasis, Animal|Animal Helminthiases|Animal Helminthiasis|Helminthiases, Animal
D055331||Adenomyoepithelioma|Adenomyoepitheliomas
C566157|116300||Cataract, Nuclear Diffuse Nonprogressive|CATARACT 30|CATARACT 30, PULVERULENT|CTRCT30
D006373||Helminthiasis|Helminthiases|Infection, Nematomorpha|Infections, Nematomorpha|Nematomorpha Infection|Nematomorpha Infections
304020||CONE-ROD DYSTROPHY, X-LINKED, 1|COD1|CONE DYSTROPHY 1, X-LINKED|CORDX1
D054000||Nevus, Sebaceous of Jadassohn|Epidermal Nevus, Verrucous|Feuerstein Mims Syndrome|Feuerstein-Mims Syndrome|Inflammatory Linear Verrucose Epidermal Nevus|Inflammatory Linear Verrucous Epidermal Naevus|Jadassohn Nevus Phakomatosis|Jadassohn Nevus Sebaceus|Jadassohn Sebaceous Nevus|Linear Sebaceous Nevus|Linear Sebaceous Nevus Syndrome|Linear Verrucous Epidermal Nevus|Nevus, Linear Sebaceous|Nevus Phakomatoses, Organoid|Nevus Phakomatosis, Jadassohn|Nevus Phakomatosis, Organoid|Nevus Sebaceus of Jadassohn|Nevus, Verrucous|Nevus, Verrucous Epidermal|Organoid Nevus Phakomatoses|Organoid Nevus Phakomatosis|Phakomatoses, Organoid Nevus|Phakomatosis, Jadassohn Nevus|Phakomatosis, Organoid Nevus|Schimmelpenning Feuerstein Mims Syndrome|Schimmelpenning-Feuerstein-Mims Syndrome|Schimmelpenning Syndrome|Sebaceous Nevus, Linear|Sebaceous Nevus of Jadassohn|Sebaceous Nevus Syndrome, Linear|Syndrome, Feuerstein-Mims|Syndrome, Schimmelpenning|Syndrome, Schimmelpenning-Feuerstein-Mims|Verrucous Epidermal Nevus|Verrucous Nevus
D056660||Hereditary Autoinflammatory Diseases|Autoinflammation Disease, Hereditary|Autoinflammation Diseases, Hereditary|Autoinflammatory Disease, Hereditary|Autoinflammatory Diseases, Hereditary|Disease, Hereditary Autoinflammation|Disease, Hereditary Autoinflammatory|Disease, Reimann Periodic|Diseases, Hereditary Autoinflammation|Diseases, Hereditary Autoinflammatory|Disease, Siegal-Cattan-Mamou|Diseases, Reimann Periodic|Fever, Hereditary Recurrent|Fevers, Hereditary Recurrent|Hereditary Autoinflammation Disease|Hereditary Autoinflammation Diseases|Hereditary Autoinflammatory Disease|Hereditary Periodic Fever Syndromes|Hereditary Recurrent Fever|Hereditary Recurrent Fevers|Periodic Disease, Reimann|Periodic Diseases, Reimann|Recurrent Fever, Hereditary|Recurrent Fevers, Hereditary|Reimann Periodic Disease|Reimann Periodic Diseases|Siegal Cattan Mamou Disease|Siegal-Cattan-Mamou Disease
607143|C535745||Congenital disorder of glycosylation type 1G|CDG1G|CDGIg|CDG Ig|Congenital Disorder of Glycosylation, Type IG
605361|C537196||Spinocerebellar ataxia 14|SCA14
D018344||T-Lymphocytopenia, Idiopathic CD4-Positive|CD4 Positive T Lymphocytopenia, Idiopathic|CD4-Positive T-Lymphocytopenia, Idiopathic|CD4+ T Lymphocytopenia|CD4+ T-Lymphocytopenia|CD4+ T Lymphocytopenia, Idiopathic|CD4+ T-Lymphocytopenia, Idiopathic|CD4+ T-Lymphocytopenias|Idiopathic CD4 Positive T-Lymphocytopenia|Idiopathic CD4-Positive T-Lymphocytopenia|Idiopathic CD4+ T Lymphocytopenia|Idiopathic CD4+ T-Lymphocytopenia|T-Lymphocytopenia, CD4+|T Lymphocytopenia, Idiopathic CD4+|T-Lymphocytopenia, Idiopathic CD4+|T Lymphocytopenia, Idiopathic CD4 Positive|T-Lymphocytopenias, CD4+
254900||EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE|ACTION MYOCLONUS-RENAL FAILURE SYNDROME|AMRF|EPM4|MYOCLONUS-NEPHROPATHY SYNDROME
D018347||Hepadnaviridae Infections|Hepadnaviridae Infection|Infection, Hepadnaviridae|Infections, Hepadnaviridae
C563270||Macular Corneal Dystrophy, Type II
D019694||Hepatitis B, Chronic|Chronic Hepatitis B
C563277||Papillary Thyroid Microcarcinoma
239300||HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1|HPMRS1|MABRY SYNDROME
D019693||Hepatitis, Autoimmune|Autoimmune Chronic Hepatitides|Autoimmune Chronic Hepatitis|Autoimmune Hepatitides|Autoimmune Hepatitis|Chronic Hepatitides, Autoimmune|Chronic Hepatitis, Autoimmune|Hepatitides, Autoimmune|Hepatitides, Autoimmune Chronic|Hepatitis, Autoimmune Chronic
C563276||Osteofibrous Dysplasia
D018365||Neoplasm, Residual|Cancer, Residual|Cancers, Residual|Disease, Minimal Residual|Disease, Residual Minimal|Diseases, Minimal Residual|Diseases, Residual Minimal|Minimal Disease, Residual|Minimal Diseases, Residual|Minimal Residual Disease|Minimal Residual Diseases|Neoplasms, Residual|Residual Cancer|Residual Cancers|Residual Disease, Minimal|Residual Diseases, Minimal|Residual Minimal Disease|Residual Minimal Diseases|Residual Neoplasm|Residual Neoplasms|Residual Tumor|Residual Tumors|Tumor, Residual|Tumors, Residual
D017034||Epilepsy, Frontal Lobe|Anterior Fronto-Polar Epilepsies|Anterior Fronto-Polar Epilepsy|Benign Frontal Childhood Epilepsy|Childhood Benign Frontal Epilepsy|Cingulate Epilepsies|Cingulate Epilepsy|Epilepsies, Anterior Fronto-Polar|Epilepsies, Cingulate|Epilepsies, Orbito-Frontal|Epilepsies, Supplementary Motor|Epilepsy, Anterior Fronto Polar|Epilepsy, Anterior Fronto-Polar|Epilepsy, Benign Frontal, Childhood|Epilepsy, Cingulate|Epilepsy, Opercular|Epilepsy, Orbito Frontal|Epilepsy, Orbito-Frontal|Epilepsy, Supplementary Motor|Frontal Epilepsy, Benign, Childhood|Frontal Lobe Epilepsies|Frontal Lobe Epilepsy|Fronto-Polar Epilepsies, Anterior|Fronto-Polar Epilepsy, Anterior|Motor Epilepsies, Supplementary|Opercular Epilepsies|Opercular Epilepsy|Orbito-Frontal Epilepsies|Orbito-Frontal Epilepsy|Supplementary Motor Epilepsies|Supplementary Motor Epilepsy
612237|C563195||Chondrosarcoma, Extraskeletal Myxoid|EMC
D017029||Epilepsy, Complex Partial|Complex Partial Epilepsy|Complex Partial Seizure Disorder|Cryptogenic Partial Complex Epilepsy|Disorder, Complex Partial Seizures|Epilepsy, Cryptogenic, Partial Complex|Epilepsy, Psychic Equivalent|Epilepsy, Psychomotor|Epilepsy, Symptomatic, Partial Complex|Partial Complex Epilepsy, Cryptogenic|Partial Complex Epilepsy, Symptomatic|Partial Epilepsy, Complex|Psychic Equivalent Epilepsy|Psychomotor Epilepsy|Seizure Disorder, Complex Partial|Symptomatic Partial Complex Epilepsy
C538162|608978||Meacham Winn Culler syndrome|MEACHAM SYNDROME
D019687||Uterine Inversion|Inversion of Uterus|Inversion, Uterine|Uterus Inversion
C563926|608448||Inflammatory Bowel Disease 9|IBD9
D018355||Rubivirus Infections|Infection, Rubivirus|Infections, Rubivirus|Rubivirus Infection
D054019||Immune Reconstitution Inflammatory Syndrome|Disease, Immune Reconstitution|Immune Reconstitution Disease|Immune Reconstitution Syndrome|Immune Reconstitution Syndromes|Immune Restoration Syndrome|Reconstitution Disease, Immune|Reconstitution Syndrome, Immune|Reconstitution Syndromes, Immune|Restoration Syndrome, Immune|Syndrome, Immune Reconstitution|Syndrome, Immune Restoration|Syndromes, Immune Reconstitution
D018358||Neuroendocrine Tumors|Neuroendocrine Tumor|Tumor, Neuroendocrine|Tumors, Neuroendocrine
D018357||Respiratory Syncytial Virus Infections|Infections, Respiratory Syncytial Virus
D018330||Nevus, Intradermal|Intradermal Nevi|Intradermal Nevus|Nevi, Intradermal
C538288||10p Deletion Syndrome (Partial)|Chromosome 10, 10p- Partial|Chromosome 10, monosomy 10p|Chromosome 10, Partial Deletion (short arm)|Monosomy 10p
C564574||Arthrogryposis, X-Linked, Type V
C538287||Cataract microcornea syndrome|Cataract-Microcornea Syndrome|Microcornea cataract syndrome|Microcornea-Cataract Syndrome
D018332||Nevus, Epithelioid and Spindle Cell|Nevus, Spindle Cell and Epithelioid|Nevus, Spitz|Spitz Nevus
183840||SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2|SPDA2
C538286||Cataract Hutterite type
D018331||Nevus, Spindle Cell|Nevi, Spindle Cell|Spindle Cell Nevi|Spindle Cell Nevus
D017001||Tooth Demineralization|Demineralization, Tooth|Hypomineralizations, Tooth|Hypomineralization, Tooth|Tooth Hypomineralization|Tooth Hypomineralizations
C564572||X Inactivation, Familial Skewed, 2
C563241||Chronic Motor Tics
C563248||Chondrodysplasia Punctata, Autosomal Dominant|Chondrodysplasia Punctata Due To Vitamin K Deficiency|Chondrodysplasia Punctata Due To Warfarin Teratogenicity
C564578||Bartter Syndrome, Type 3, with Hypocalciuria
C563247||Muscular Dystrophy, Cardiac Type
C538289||Chromosome 10, monosomy 10q|10q- deletion|Deletion 10q|Monosomy 10q|Terminal deletion of chromosome 10q
D006349||Heart Valve Diseases|Disease, Heart Valve|Diseases, Heart Valve|Diseases, Valvular Heart|Disease, Valvular Heart|Heart Diseases, Valvular|Heart Disease, Valvular|Heart Valve Disease|Valve Disease, Heart|Valve Diseases, Heart|Valvular Heart Disease|Valvular Heart Diseases
C538280||Cataract and cardiomyopathy|Cardiomyopathy and cataract|Sengers syndrome
C563249||Carnitine Acetyltransferase Deficiency
D007676||Kidney Failure, Chronic|Chronic Kidney Failure|Chronic Renal Failure|Disease, End-Stage Kidney|Disease, End-Stage Renal|End Stage Kidney Disease|End-Stage Kidney Disease|End Stage Renal Disease|End-Stage Renal Disease|End-Stage Renal Failure|ESRD|Kidney Disease, End-Stage|Renal Disease, End Stage|Renal Disease, End-Stage|Renal Failure, Chronic|Renal Failure, End Stage|Renal Failure, End-Stage
D006345||Heart Septal Defects, Ventricular|Defect, Intraventricular Septal|Defects, Intraventricular Septal|Defect, Ventricular Septal|Intraventricular Septal Defect|Intraventricular Septal Defects|Septal Defect, Intraventricular|Septal Defects, Intraventricular|Septal Defects, Ventricular|Septal Defect, Ventricular|Ventricular Septal Defect|Ventricular Septal Defects
C538284||Cataract congenital dominant non nuclear|Autosomal dominant nonnuclear polymorphic congenital cataract|Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant|Cataract, polymorphic congenital
C538283||Cataract ataxia deafness|Begeer syndrome|Cataract-ataxia-deafness-retardation syndrome|Cataract ataxia deafness syndrome|Polyneuropathy, cataract, deafness syndrome|Polyneuropathy-Cataract-Deafness Syndrome
D007674||Kidney Diseases|Disease, Kidney|Diseases, Kidney|Kidney Disease
D006343||Heart Septal Defects|Cardiac Septal Defects|Defect, Heart Septal|Defects, Heart Septal|Heart Septal Defect|Septal Defect, Heart|Septal Defects, Heart
C538282||Cataract anterior polar dominant|Anterior polar cataracts 1|Cataract anterior polar|Cataract, Anterior Polar|Cataract, Anterior Polar, 1
D006344||Heart Septal Defects, Atrial|Atrial Septal Defect|Atrial Septal Defects|Defect, Atrial Septal|Defects, Atrial Septal|Ostium Primum, Persistent|Ostium Secundum Atrial Septal Defect|Persistent Ostium Primum|Primum, Persistent Ostium|Septal Defect, Atrial|Septal Defects, Atrial
C538281||Cataract and congenital ichthyosis|Syndromic cataract and congenital ichthyosis
D007683||Kidney Tubular Necrosis, Acute|Acute Kidney Tubular Necrosis|Lower Nephron Nephroses|Lower Nephron Nephrosis|Nephron Nephroses, Lower|Nephron Nephrosis, Lower|Nephroses, Lower Nephron|Nephrosis, Lower Nephron
D007681||Kidney Papillary Necrosis|Necrosis, Kidney Papillary|Necrosis, Renal Medullary|Necrotizing Renal Papillitides|Necrotizing Renal Papillitis|Papillary Necrosis, Kidney|Papillitides, Necrotizing Renal|Renal Medullary Necrosis|Renal Papillitides, Necrotizing|Renal Papillitis, Necrotizing
C563337|601362||Digeorge Syndrome/Velocardiofacial Syndrome Complex 2|DGS2
D007680||Kidney Neoplasms|Cancer, Kidney|Cancer of Kidney|Cancer of the Kidney|Cancer, Renal|Cancers, Kidney|Cancers, Renal|Kidney Cancer|Kidney Cancers|Kidney Neoplasm|Neoplasm, Kidney|Neoplasm, Renal|Neoplasms, Kidney|Neoplasms, Renal|Renal Cancer|Renal Cancers|Renal Neoplasm|Renal Neoplasms
D018327||Hutchinson&apos;s Melanotic Freckle|Freckle, Hutchinson&apos;s Melanotic|Freckle, Melanotic|Freckles, Melanotic|Hutchinson Melanotic Freckle|Hutchinsons Melanotic Freckle|Lentigo Maligna|Lentigo, Malignant|Lentigos, Malignant|Malignant Lentigo|Malignant Lentigos|Melanotic Freckle|Melanotic Freckle, Hutchinson&apos;s|Melanotic Freckles
D018326||Nevi and Melanomas|Melanomas and Nevi
D018329||Nevus, Blue|Blue Nevi|Blue Nevi, Cellular|Blue Nevus|Blue Nevus, Cellular|Cellular Blue Nevi|Cellular Blue Nevus|Nevi, Blue|Nevi, Cellular Blue|Nevus, Cellular Blue
D018328||Melanoma, Amelanotic|Amelanotic Melanoma|Amelanotic Melanomas|Melanomas, Amelanotic
D018323||Hemangioendothelioma, Epithelioid|Epithelioid Hemangioendothelioma|Epithelioid Hemangioendotheliomas|Hemangioendotheliomas, Epithelioid
D018322||Angiofibroma|Angiofibromas
D018325||Hemangioblastoma|Hemangioblastoma, Multiple|Hemangioblastomas|Hemangioblastomas, Multiple|Multiple Hemangioblastoma|Multiple Hemangioblastomas
D018324||Hemangioma, Capillary|Capillary Hemangioma|Capillary Hemangiomas|Hemangiomas, Capillary
D031300||Retinal Vasculitis|Vasculitis, Retinal
C563255||Microspherophakia
C538299||Chromosome 12, 12p trisomy|Duplication 12p|Trisomy 12p
C563254||Presenile And Senile Dementia
C538298||Chromosome 12 ring|Ring chromosome 12
C537264|601277||Lamellar ichthyosis, type 2|ARCI4A|Ichthyosis congenita 2B|Ichthyosis Congenita Iib|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A|Ichthyosis lamellar 2|Ichthyosis, Lamellar, 2|ICHTHYOSIS, LAMELLAR, 2, FORMERLY|ICR2B|LI2, FORMERLY|Type 2 lamellar ichthyosis
C538297||Chromosome 11q trisomy|Duplication 11q|Trisomy 11q
C564583||Cortical Dysplasia of Taylor without Balloon Cells|Cortical Dysplasia of Taylor, Dysplasia Only
C538296||Chromosome 11q partial deletion|Deletion 11q partial|Monosomy 11q partial
613480||LYMPHEDEMA, HEREDITARY, IC|LMPH1C
C563258||Islet Cell Adenomatosis
C538291||Chromosome 10, trisomy 10pter p13|Duplication 10pter p13|Trisomy 10pter p13
C538290||Chromosome 10, trisomy 10p|Duplication 10p|Trisomy 10p
613485||LONG QT SYNDROME 13|LQT13
D006359||Heat Exhaustion|Collapse, Heat|Exhaustion, Heat|Heat Collapse|Heat Prostration|Prostration, Heat
D006356||Heartburn|Pyroses|Pyrosis
C538295||Chromosome 11p, partial deletion|Deletion 11p 11p12|Deletion 11p13|Monosomy 11 p11 p12|Partial deletion 11p
D020642||Acatalasia|Acatalasemia|Acatalasemia Japanese Type|Acatalasemia Swiss Type|Catalase Deficiencies|Catalase Deficiency|Deficiencies, Catalase|Deficiency, Catalase|Disease, Takahara|Disease, Takahara&apos;s|Hypocatalasemia|Hypocatalasia|Japanese Type, Acatalasemia|Swiss Type, Acatalasemia|Takahara Disease|Takahara&apos;s Disease|Takaharas Disease
D006357||Heartwater Disease|Disease, Heartwater
C538294||Chromosome 11, partial trisomy 11q|11q Partial Trisomy|Chromosome 11, Partial Trisomy 11q13-qter|Chromosome 11, Partial Trisomy 11q21-qter|Chromosome 11, Partial Trisomy 11q23-qter|Distal Trisomy 11q
613489||CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj|CDG2J|CDGIIj|CDG IIj
C538293||Chromosome 11, deletion 11p|Deletion 11p|Monosomy 11p
C538292||Chromosome 10, uniparental disomy of|Mosaic trisomy 10|Uniparental disomy of 10
D009800|309000||Oculocerebrorenal Syndrome|Cerebrooculorenal Syndrome|Cerebro Oculo Renal Syndrome|Cerebro-Oculo-Renal Syndrome|Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase|Dystrophy, Oculocerebrorenal|Lowe Bickel Syndrome|Lowe-Bickel Syndrome|Lowe Disease|Lowe Oculocerebrorenal Syndrome|Lowe Syndrome|Lowe Terrey MacLachlan Syndrome|Lowe-Terrey-MacLachlan Syndrome|OCRL|OCRL1|Oculocerebrorenal Dystrophy|Oculocerebrorenal Syndrome of Lowe|Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency|Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency|Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency|Renal Oculocerebrodystrophy|Renal-Oculocerebrodystrophy
D006362||Heavy Chain Disease|Franklin Disease|Franklin&apos;s Disease|Franklins Disease|gamma Chain Disease|gamma-Chain Disease|gamma-Chain Diseases|Heavy Chain Diseases|mu Chain Disease|mu-Chain Disease|mu-Chain Diseases
D007691||Medullary Sponge Kidney|Cacchi Ricci Disease|Cacchi Ricci Syndrome|Cacchi-Ricci Syndrome|Canalicular Ectasia, Precalyceal|Canalicular Ectasias, Precalyceal|Disease, Cacchi Ricci|Ectasia, Precalyceal Canalicular|Ectasias, Precalyceal Canalicular|Kidney, Sponge|Kidneys, Sponge|Medullary Sponge Kidneys|Precalyceal Canalicular Ectasia|Precalyceal Canalicular Ectasias|Ricci Disease, Cacchi|Sponge Kidney|Sponge Kidney, Medullary|Sponge Kidneys|Sponge Kidneys, Medullary|Syndrome, Cacchi-Ricci
C567725|613172||Cardiomyopathy, Dilated, 1DD|CMD1DD
D054039||Onycholysis|Onycholyses|Photo-onycholyses|Photo onycholysis|Photo-onycholysis
C538235|103050||Adenylosuccinate lyase deficiency|Adenylosuccinase deficiency|ADENYLOSUCCINATE LYASE DEFICIENCY|Adenylosuccinate lyase deficiency type 1|Adenylosuccinate lyase deficiency type 2|Adenylosuccinate lyase deficiency type 3|Adenylosuccinate lyase deficiency type 4|ADSL Deficiency|Succinylpurinemic autism
D054038||Posterior Leukoencephalopathy Syndrome|Leukoencephalopathy Syndrome, Posterior|Leukoencephalopathy Syndromes, Posterior|Posterior Reversible Encephalopathy Syndrome|Reversible Posterior Leukoencephalopathy Syndrome|Syndrome, Posterior Leukoencephalopathy|Syndromes, Posterior Leukoencephalopathy
600176||PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS|PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
C563262||Corneal Dystrophy, Central Type|Central Cloudy Dystrophy of Francois
D018333||Odontogenic Cyst, Calcifying|Calcifying Odontogenic Cyst|Calcifying Odontogenic Cysts|Cyst, Calcifying Odontogenic|Cysts, Calcifying Odontogenic|Odontogenic Cysts, Calcifying
C563261||Renal Adysplasia|Hereditary Renal Aplasia|Renal Aplasia
C564591||Cholesteryl Ester Transfer Protein Deficiency|CETP Deficiency|Hyperalphalipoproteinemia
D018335||Rhabdoid Tumor|Rhabdoid Tumors|Tumor, Rhabdoid|Tumors, Rhabdoid
C535289|129400||Rapp-Hodgkin syndrome|CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8, INCLUDED|Ectodermal dysplasia, anhidrotic, with cleft lip/palate|ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE OROFACIAL CLEFT 8, INCLUDED|OFC8, INCLUDED|RHS
C563221||Mydriasis, Congenital
D018310||Sertoli-Leydig Cell Tumor|Androblastoma|Androblastomas|Arrhenoblastoma|Arrhenoblastomas|Cell Tumor, Sertoli-Leydig|Cell Tumors, Sertoli-Leydig|Sertoli Leydig Cell Tumor|Sertoli Leydig Cell Tumors|Sertoli-Leydig Cell Tumors|Tumor, Sertoli-Leydig Cell|Tumors, Sertoli-Leydig Cell
C564557||Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male
C565881||Cardiomyopathy Associated With Myopathy And Sudden Death
C565882||Cardiac Valvular Defect, Developmental
613470||HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
C565883||Cardiac Septal Defects with Coarctation of the Aorta
613471||REYNOLDS SYNDROME|PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA
C564554||Terminal Osseous Dysplasia and Pigmentary Defects|Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula
C565884||Cardiac Lipidosis, Familial
D004535|130050||Ehlers-Danlos Syndrome|Cutis Elastica|Danlos Disease, Ehlers|Disease, Ehlers Danlos|Disease, Ehlers-Danlos|EDS4|EDS IV|Ehlers Danlos Disease|Ehlers-Danlos Disease|Ehlers Danlos Syndrome|Ehlers Danlos Syndrome, Arterial Type|Ehlers-Danlos Syndrome, Arterial Type|Ehlers Danlos Syndrome, Ecchymotic Type|Ehlers-Danlos Syndrome, Ecchymotic Type|Ehlers Danlos Syndrome, Sack Barabas Type|Ehlers Danlos Syndrome, Sack-Barabas Type|Ehlers-Danlos Syndrome, Sack-Barabas Type|Ehlers Danlos Syndrome Type 4, Autosomal Dominant|Ehlers Danlos Syndrome, Type IV|Ehlers-Danlos Syndrome, Type IV|Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant|Ehlers Danlos Syndrome, Vascular Type|Ehlers-Danlos Syndrome, Vascular Type|Syndrome, Ehlers-Danlos
D006327||Heart Block|Atrioventricular Dissociation|Atrioventricular Dissociations|Auriculo Ventricular Dissociation|Auriculo-Ventricular Dissociation|Auriculo-Ventricular Dissociations|A V Dissociation|A-V Dissociation|A-V Dissociations|Block, Heart|Blocks, Heart|Dissociation, Atrioventricular|Dissociation, Auriculo-Ventricular|Dissociation, A-V|Dissociations, Atrioventricular|Dissociations, Auriculo-Ventricular|Dissociations, A-V|Heart Blocks
D008989||Monieziasis|Monieziases
D006323||Heart Arrest|Arrest, Cardiac|Arrest, Cardiopulmonary|Arrest, Heart|Asystole|Asystoles|Cardiac Arrest|Cardiopulmonary Arrest
613477||EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5|EIEE5
D006322||Heart Aneurysm|Aneurysm, Cardiac|Aneurysm, Heart|Aneurysms, Cardiac|Aneurysms, Heart|Cardiac Aneurysm|Cardiac Aneurysms|Heart Aneurysms
D014898|277700||Werner Syndrome|Adult Premature Aging Syndrome|Adult Progeria|Progeria, Adult|Syndrome, Werner|Syndrome, Werners|Syndrome, Werner&apos;s|Werner&apos;s Syndrome|Werners Syndrome|WRN
C536487|601067||Usher syndrome, type 1D|USH1D|USH1D/F, CDH23/PCDH15, DIGENIC, INCLUDED|USHER SYNDROME, TYPE ID|USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC, INCLUDED
D006330||Heart Defects, Congenital|Abnormalities, Heart|Abnormality, Heart|Congenital Heart Defect|Congenital Heart Defects|Defect, Congenital Heart|Defects, Congenital Heart|Heart Abnormalities|Heart Abnormality|Heart Defect, Congenital|Heart, Malformation Of
D008992||Monkey Diseases|Disease, Monkey|Diseases, Monkey|Monkey Disease
D007662||Ketosis|Acetonemia|Acetonemias|Acetonuria|Acetonurias|Ketoacidemia|Ketoacidemias|Ketoacidoses|Ketoacidoses, Metabolic|Ketoacidosis|Ketoacidosis, Metabolic|Ketoaciduria|Ketoacidurias|Ketonemia|Ketonemias|Ketonuria|Ketonurias|Ketoses, Metabolic|Ketosis, Metabolic|Metabolic Ketoacidoses|Metabolic Ketoacidosis|Metabolic Ketoses|Metabolic Ketosis
D006331||Heart Diseases|Cardiac Disease|Cardiac Diseases|Disease, Cardiac|Disease, Heart|Diseases, Cardiac|Diseases, Heart|Heart Disease
D018309||Neoplasms, Gonadal Tissue|Gonadal Tissue Neoplasm|Gonadal Tissue Neoplasms|Neoplasm, Gonadal Tissue|Tissue Neoplasm, Gonadal|Tissue Neoplasms, Gonadal
D055370||Lung Injury|Chronic Lung Injuries|Chronic Lung Injury|Injuries, Lung|Injuries, Pulmonary|Injury, Lung|Injury, Pulmonary|Lung Injuries|Lung Injuries, Chronic|Lung Injury, Chronic|Pulmonary Injuries|Pulmonary Injury
D018308||Papilloma, Inverted|Inverted Papilloma|Inverted Papillomas|Papillomas, Inverted
D055371||Acute Lung Injury|Acute Lung Injuries|Lung Injuries, Acute|Lung Injury, Acute
D019636||Neurodegenerative Diseases|Degenerative Condition, Neurologic|Degenerative Conditions, Neurologic|Degenerative Diseases, Central Nervous System|Degenerative Diseases, Nervous System|Degenerative Diseases, Neurologic|Degenerative Diseases, Spinal Cord|Degenerative Neurologic Disease|Degenerative Neurologic Diseases|Degenerative Neurologic Disorder|Degenerative Neurologic Disorders|Nervous System Degenerative Diseases|Neurodegenerative Disease|Neurodegenerative Disorder|Neurodegenerative Disorders|Neurologic Degenerative Condition|Neurologic Degenerative Conditions|Neurologic Degenerative Disease|Neurologic Degenerative Diseases|Neurologic Disease, Degenerative|Neurologic Diseases, Degenerative|Neurologic Disorder, Degenerative|Neurologic Disorders, Degenerative
601495||AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT|AGM1
D018305||Ganglioneuroblastoma|Ganglioneuroblastomas
D018304||Esthesioneuroblastoma, Olfactory|Aesthesioneuroblastoma|Aesthesioneuroblastomas|Esthesioneuroblastoma|Esthesioneuroblastoma, Paranasal Sinus Nasal Cavity|Esthesioneuroblastoma, Paranasal Sinus-Nasal Cavity|Esthesioneuroblastomas|Esthesioneuroblastomas, Olfactory|Neuroblastoma, Olfactory|Neuroblastomas, Olfactory|Olfactory Esthesioneuroblastoma|Olfactory Esthesioneuroblastomas|Olfactory Neuroblastoma|Olfactory Neuroblastomas|Paranasal Sinus Nasal Cavity Esthesioneuroblastoma|Paranasal Sinus-Nasal Cavity Esthesioneuroblastoma
D018307||Neoplasms, Squamous Cell|Cancer, Squamous Cell|Cancers, Squamous Cell|Cell Cancer, Squamous|Cell Cancers, Squamous|Cell Neoplasm, Squamous|Cell Neoplasms, Squamous|Neoplasm, Squamous Cell|Squamous Cell Cancer|Squamous Cell Cancers|Squamous Cell Neoplasm|Squamous Cell Neoplasms
300613|C564473||Myopia 13|MYOPIA 13, X-LINKED|MYP13
D018306||Neurocytoma|Central Neurocytoma|Central Neurocytomas|Neurocytoma, Central|Neurocytomas|Neurocytomas, Central
601499||AXENFELD-RIEGER SYNDROME, TYPE 2|RIEG2|RIEGER SYNDROME, TYPE 2
D018301||Neoplasms, Mesothelial|Mesothelial Neoplasm|Mesothelial Neoplasms|Neoplasm, Mesothelial
D018300||Papilloma, Intraductal|Intraductal Papilloma|Intraductal Papillomas|Papillomas, Intraductal
612376|D015473||Leukemia, Promyelocytic, Acute|Acute Promyelocytic Leukemia|Acute Promyelocytic Leukemias|AML M3|ANLL, M3|APL|Leukemia, Acute Promyelocytic|Leukemia, Myeloid, Acute, M3|Leukemia, Progranulocytic|M3 ANLL|Myeloid Leukemia, Acute, M3|Progranulocytic Leukemia|Promyelocytic Leukemia, Acute
D018303||Ganglioglioma|Benign Ganglioglioma|Benign Gangliogliomas|Ganglioglioma, Benign|Ganglioglioma, Intracranial|Ganglioglioma, Malignant|Gangliogliomas|Gangliogliomas, Benign|Gangliogliomas, Intracranial|Gangliogliomas, Malignant|Intracranial Ganglioglioma|Intracranial Gangliogliomas|Malignant Ganglioglioma|Malignant Gangliogliomas
D018302||Neoplasms, Neuroepithelial|Astroblastoma|Astroblastomas|Ependymoastrocytoma|Ependymoastrocytomas|Gliomatosis Cerebri|Neoplasm, Neuroepithelial|Neuroepithelial Neoplasm|Neuroepithelial Neoplasms|Neuroepithelial Tumor|Neuroepithelial Tumors|Polar Spongioblastoma|Polar Spongioblastomas|Spongioblastoma, Polar|Spongioblastomas, Polar|Tumor, Neuroepithelial|Tumors, Neuroepithelial
C563233||Myelocerebellar Disorder|Ataxia-Pancytopenia Syndrome
C565896||Bone Dysplasia, Lethal, Holmgren Type
D018321||Neurothekeoma|Myxoma, Nerve Sheath|Myxomas, Nerve Sheath|Nerve Sheath Myxoma|Nerve Sheath Myxomas|Neurotheceoma|Neurotheceomas|Neurothecoma|Neurothecomas|Neurothekeomas
C564561||Myotubular Myopathy with Abnormal Genital Development
C564568||Adrenal Hypoplasia, Congenital, with Precocious Puberty|Adrenal Insufficiency, Progressive, and Hypogonadotropic Hypogonadism
C563237||Cystic Disease Of Lung
C565893||Brachymetapody-Anodontia-Hypotrichosis-Albinoidism|Anodontia-Hypotrichosis Syndrome|Oculoosteocutaneous Syndrome
C565894||Brachydactyly, Type A2, With Microcephaly
D007669||Kidney Calculi|Calculi, Kidney|Calculi, Renal|Calculus, Kidney|Calculus, Renal|Kidney Calculus|Kidney Stone|Kidney Stones|Nephrolith|Renal Calculi|Renal Calculus|Stone, Kidney|Stones, Kidney
D006338||Heart Neoplasms|Cancer, Cardiac|Cancer, Heart|Cancers, Cardiac|Cancers, Heart|Carcinoma, Cardiac|Carcinomas, Cardiac|Cardiac Cancer|Cardiac Cancers|Cardiac Carcinoma|Cardiac Carcinomas|Cardiac Neoplasm|Cardiac Neoplasms|Cardiac Tumor|Cardiac Tumors|Heart Cancer|Heart Cancers|Heart Neoplasm|Heart Tumor|Heart Tumors|Intracavitary Tumors of the Heart|Myocardial Tumor (Rhabdomyomas and Fibromas)|Myocardial Tumors (Rhabdomyomas and Fibromas)|Neoplasm, Cardiac|Neoplasm, Heart|Neoplasms, Cardiac|Neoplasms, Heart|Primary Cardiac Tumors, Childhood|Tumor, Cardiac|Tumor, Heart|Tumor, Myocardial (Rhabdomyomas and Fibromas)|Tumors, Cardiac|Tumors, Heart|Tumors, Myocardial (Rhabdomyomas and Fibromas)
C563239||Aneurysm Of Interventricular Septum
613464||RETINITIS PIGMENTOSA 51|RP51
D008998||Monoclonal Gammopathy of Undetermined Significance|Benign Monoclonal Gammapathies|Benign Monoclonal Gammapathy|Benign Monoclonal Gammopathies|Benign Monoclonal Gammopathy|Gammapathies, Benign Monoclonal|Gammapathy, Benign Monoclonal|Gammopathies, Benign Monoclonal|Gammopathy, Benign Monoclonal|Monoclonal Gammapathies, Benign|Monoclonal Gammapathy, Benign|Monoclonal Gammapathy of Undetermined Significance|Monoclonal Gammopathies, Benign|Monoclonal Gammopathy, Benign
D006337||Heart Murmurs|Cardiac Murmur|Cardiac Murmurs|Diastolic Murmur|Diastolic Murmurs|Heart Murmur|Innocent Murmur|Innocent Murmurs|Murmur, Cardiac|Murmur, Diastolic|Murmur, Heart|Murmur, Innocent|Murmurs, Cardiac|Murmurs, Diastolic|Murmurs, Heart|Murmurs, Innocent
C563238||Parathyroid Glands, Agenesis Of
D054060||Pulmonary Infarction|Infarction, Pulmonary|Infarctions, Pulmonary|Pulmonary Infarctions
C566350|603649||Cone-Rod Dystrophy 7|CORD7
D006335||Heart Injuries|Cardiac Ruptures, Traumatic|Cardiac Rupture, Traumatic|Heart Injury|Heart Ruptures, Traumatic|Heart Rupture, Traumatic|Injuries, Heart|Injury, Heart|Ruptures, Traumatic Cardiac|Ruptures, Traumatic Heart|Rupture, Traumatic Cardiac|Rupture, Traumatic Heart|Traumatic Cardiac Rupture|Traumatic Cardiac Ruptures|Traumatic Heart Rupture|Traumatic Heart Ruptures
D006332||Cardiomegaly|Cardiac Hypertrophy|Enlarged Heart|Enlargement, Heart|Heart, Enlarged|Heart Enlargement|Heart Hypertrophy
D006333||Heart Failure|Cardiac Failure|Congestive Heart Failure|Decompensation, Heart|Heart Decompensation|Heart Failure, Congestive|Heart Failure, Left Sided|Heart Failure, Left-Sided|Heart Failure, Right Sided|Heart Failure, Right-Sided|Left Sided Heart Failure|Left-Sided Heart Failure|Myocardial Failure|Right Sided Heart Failure|Right-Sided Heart Failure
D006341||Heart Rupture|Cardiac Free Wall Rupture|Cardiac Rupture|Cardiac Ruptures|Free Wall Rupture, Heart|Heart Ruptures|Ventricular Free Wall Rupture
D007673||Kidney Cortex Necrosis|Glomerular Necrosis|Necrosis, Glomerular|Necrosis, Kidney Cortex|Necrosis, Renal Cortical|Necrosis, Renal Tubule|Renal Cortical Necrosis|Renal Tubule Necrosis
D006342||Heart Rupture, Post-Infarction|Cardiac Rupture, Post Infarction|Cardiac Rupture, Post-Infarction|Cardiac Ruptures, Post-Infarction|Heart Rupture, Post Infarction|Heart Ruptures, Post-Infarction|Post-Infarction Cardiac Rupture|Post-Infarction Cardiac Ruptures|Post Infarction Heart Rupture|Post-Infarction Heart Rupture|Post-Infarction Heart Ruptures|Rupture, Post-Infarction Cardiac|Rupture, Post-Infarction Heart|Ruptures, Post-Infarction Cardiac|Ruptures, Post-Infarction Heart
D018319||Neurofibrosarcoma|Neurofibrosarcomas|Neurogenic Sarcoma|Neurogenic Sarcomas|Sarcoma, Neurogenic|Sarcomas, Neurogenic
D018316||Gliosarcoma|Glioblastoma with Sarcomatous Component|Glioma, Sarcomatous|Gliomas, Sarcomatous|Gliosarcomas|Sarcomatous Glioma|Sarcomatous Gliomas
214450|C537301||Griscelli syndrome type 1|Griscelli syndrome, cutaneous and neurologic type|Griscelli Syndrome, Type 1|Griscelli syndrome with neurologic impairment|GS1|Partial albinism and primary neurologic disease without hemophagocytic syndrome
D018315||Glioma, Subependymal|Adult Subependymal Astrocytoma|Adult Subependymal Astrocytomas|Astrocytoma, Adult Subependymal|Astrocytomas, Adult Subependymal|Astrocytomas, Subependymal|Astrocytoma, Subependymal|Gliomas, Subependymal|Glioses, Subependymal|Gliosis, Subependymal|Subependymal Astrocytoma|Subependymal Astrocytoma, Adult|Subependymal Astrocytomas|Subependymal Astrocytomas, Adult|Subependymal Glioma|Subependymal Gliomas|Subependymal Glioses|Subependymal Gliosis|Subependymoma|Subependymomas
D054059||Coronary Occlusion|Coronary Occlusions|Occlusion, Coronary|Occlusions, Coronary
D018318||Neurofibroma, Plexiform|Elephantiasis Neuromatoses|Elephantiasis Neuromatosis|Neurofibromas, Plexiform|Neuroma, Plexiform|Neuromas, Plexiform|Pachydermatocele|Pachydermatoceles|Plexiform Neurofibroma|Plexiform Neurofibromas|Plexiform Neuroma|Plexiform Neuromas|Tumor Royale
D054058||Acute Coronary Syndrome|Acute Coronary Syndromes|Coronary Syndrome, Acute|Coronary Syndromes, Acute|Syndrome, Acute Coronary|Syndromes, Acute Coronary
D018317||Nerve Sheath Neoplasms|Neoplasm, Nerve Sheath|Neoplasms, Nerve Sheath|Nerve Sheath Neoplasm|Nerve Sheath Tumors|Nerve Sheath Tumors, Peripheral|Perineurioma|Perineuriomas|Peripheral Nerve Sheath Tumors|Tumors of the Nerve Sheath
D018312||Sex Cord-Gonadal Stromal Tumors|Gynandroblastoma|Gynandroblastomas|Sex Cord Stromal Tumor|Sex Cord-Stromal Tumor|Sex Cord-Stromal Tumors|Tumor, Sex Cord-Stromal|Tumors, Sex Cord-Stromal
C564571||Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked|Left Ventricular Noncompaction, Isolated, X-Linked
D018311||Luteoma|Gestational Luteoma|Gestational Luteomas|Luteinoma|Luteoma, Gestational|Luteoma of Pregnancy|Luteoma, Pregnancy|Luteomas|Luteomas, Gestational|Luteomas, Pregnancy|Pregnancy Luteoma|Pregnancy Luteomas
C566489|609995||Myopia 12|MYOPIA 12, AUTOSOMAL DOMINANT|MYP12
C536942|311900||TARP syndrome|Pierre Robin syndrome with congenital heart malformation and clubfoot|Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava|TARPS
C565863||Cerebrocortical Degeneration of Infancy
C565864||Cerebral Angiopathy, Dysphoric
C565866||Cerebelloparenchymal Disorder II|Cpd, Late-Onset Recessive Type
C538241||Amelogenesis imperfecta nephrocalcinosis|Absent enamel, nephrocalcinosis and apparently normal calcium metabolism|Amelogenesis Imperfecta, Hypoplastic, and Nephrocalcinosis|Amelogenesis Imperfecta, Type IG|Enamel renal syndrome|Enamel-Renal Syndrome|Generalized enamel hypoplasia and renal dysfunction
C564535||Lesch-Nyhan Syndrome, Neurologic Variant|HPRT Deficiency, Neurologic Variant
C538248||Amyloid angiopathy|Amyloidosis - cerebral|Senile cerebral amyloid angiopathy
C563203||Anodontia of Permanent Dentition|Teeth, Permanent, Absence of
D007638||Keratoconjunctivitis Sicca|Sicca, Keratoconjunctivitis
C565861||Cerebrohepatorenal Syndrome, Variant Types|Zellweger Syndrome, Variant Types
C564532||Thrombocytosis, Familial X-Linked
D007639||Keratoconjunctivitis, Infectious|Infectious Keratoconjunctivitides|Infectious Keratoconjunctivitis|Keratoconjunctivitides, Infectious
C563201||Lysine Intolerance
C565862||Cerebrofaciothoracic Dysplasia
C538245||Ameloonychohypohidrotic syndrome|Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis
D007636||Keratoacanthoma|Keratoacanthomas
D007637||Keratoconjunctivitis|Keratoconjunctivitides
D007634||Keratitis|Keratitides
D007635||Keratitis, Dendritic|Dendritic Keratitides|Dendritic Keratitis|Furrow Keratitides|Furrow Keratitis|Keratitides, Dendritic|Keratitides, Furrow|Keratitis, Furrow
C566440|607932||Microphthalmia, Syndromic 6|Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia|MCOPS6|Microphthalmia And Pituitary Anomalies|Microphthalmia With Brain And Digit Developmental Anomalies
C565867||Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
D054070||Postthrombotic Syndrome|Syndrome, Postthrombotic|Syndrome, Venous Stasis|Venous Stasis Syndrome
C565868||Cerebellar Ataxia, Benign, with Thermoanalgesia|Cerebellar Ataxia with Loss of Pain and Temperature Sensation
C565869||Cerebellar Ataxia and Neurosensory Deafness
D007640||Keratoconus
D055397||Ventilator-Induced Lung Injury|Lung Injuries, Ventilator-Induced|Lung Injury, Ventilator Induced|Lung Injury, Ventilator-Induced|Ventilator-Induced Lung Injuries|Ventilator Induced Lung Injury
D054062||Deaf-Blind Disorders|Blind-Deaf Disorder|Blind Deaf Disorders|Blind-Deaf Disorders|Blindness Deafness|Blindness-Deafness|Deaf-Blind Disorder|Deaf-Blind Disorder, Prelingual|Deaf Blind Disorders|Deaf-Blind Disorders, Prelingual|Deaf-Blindness Disorder|Deaf Blindness Disorders|Deaf-Blindness Disorders|Deaf-Blind Syndrome|Deaf Blind Syndromes|Deaf-Blind Syndromes|Deaf-Mutism-Blind Disorder|Deaf Mutism Blind Disorders|Deaf-Mutism-Blind Disorders|Deafness Blindness|Deafness-Blindness|Deafness-Blindnesses, Prelingual|Deafness-Blindness, Prelingual|Disorder, Blind-Deaf|Disorder, Deaf-Blind|Disorder, Deaf-Blindness|Disorder, Deaf-Mutism-Blind|Disorder, Prelingual Deaf-Blind|Disorders, Blind-Deaf|Disorders, Deaf-Blind|Disorders, Deaf-Blindness|Disorders, Deaf-Mutism-Blind|Disorders, Prelingual Deaf-Blind|Hearing and Vision Loss|Prelingual Deaf-Blind Disorder|Prelingual Deaf Blind Disorders|Prelingual Deaf-Blind Disorders|Prelingual Deafness Blindness|Prelingual Deafness-Blindness|Prelingual Deafness-Blindnesses|Syndrome, Deaf-Blind|Syndromes, Deaf-Blind|Vision and Hearing Loss
C537456|300486||Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|MENTAL RETARDATION, X-LINKED 60, FORMERLY|MRX60, FORMERLY
D054061||Ischemic Contracture|Contracture, Ischemic|Contractures, Ischemic|Contractures, Volkmann|Contracture, Volkmann|Contracture, Volkmann&apos;s Ischemic|Ischemic Contractures|Ischemic Contracture, Volkmann&apos;s|Volkmann Contracture|Volkmann Contractures|Volkmann Ischemic Contracture|Volkmann&apos;s Ischemic Contracture|Volkmanns Ischemic Contracture
D054068||Livedo Reticularis
D054066||Leukemia, Large Granular Lymphocytic|Large Granular Lymphocyte Leukemia|Leukemia, LGL|Leukemia, Lymphocytic, Large Granular|Leukemia, Natural Killer Cell Large Granular Lymphocytic|Leukemia, NK LGL|Leukemia, NK-LGL|Leukemias, LGL|Leukemias, NK-LGL|Leukemias, T-LGL|Leukemia, T Cell Large Granular Lymphocytic|Leukemia, T-Cell Large Granular Lymphocytic|Leukemia, T LGL|Leukemia, T-LGL|LGL Leukemia|LGL Leukemias|Lymphoproliferative Disease of Granular Lymphocytes|Lymphoproliferative Disease of Large Granular Lymphocytes|Natural Killer Cell Large Granular Lymphocytic Leukemia|NK Cell Large Granular Lymphocytic Leukemia|NK-Cell Large Granular Lymphocytic Leukemia|NK LGL Leukemia|NK-LGL Leukemia|NK-LGL Leukemias|T Cell Large Granular Lymphocyte Leukemia|T-Cell Large Granular Lymphocyte Leukemia|T Cell Large Granular Lymphocytic Leukemia|T-Cell Large Granular Lymphocytic Leukemia|T LGL Leukemia|T-LGL Leukemia|T-LGL Leukemias
C566923|611544||Cataract, Congenital Nuclear, Autosomal Recessive 3|CATARACT 17, MULTIPLE TYPES|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3|CATCN3|CTRCT17
C538238||Adrenal incidentaloma
304050|D058540||Aicardi Syndrome|Agenesis of Corpus Callosum with Chorioretinal Abnormality|Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities|AIC|Aicardi&apos;s Syndrome|Callosal Agenesis and Ocular Abnormalities|Chorioretinal Anomalies with Acc|Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality|Syndrome, Aicardi|Syndrome, Aicardi&apos;s
C563783|609161||Striatal Degeneration, Autosomal Dominant|ADSD
C564542||Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic|Xhm-Ed
C538255||Anaplastic small cell lymphoma|Small cell variant of anaplastic large cell lymphoma
C538253||Amyotrophy, monomelic|Hirayama disease|Monomelic amyotrophy|Spinal muscular atrophy juvenile nonprogressive|Spinal Muscular Atrophy, Juvenile, Nonprogressive
C563324|601399||Platelet Disorder, Familial, with Associated Myeloid Malignancy|FPDAML|FPD/AML|FPDMM|Platelet Disorder, Aspirin-Like|Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia
C563215||Genochondromatosis
C565870||Cerebellar Ataxia and Hypogonadotropic Hypogonadism|Gordon Holmes Syndrome|LHRH Deficiency and Ataxia|Luteinizing Hormone-Releasing Hormone, Deficiency of, with Ataxia
C564545||Androgen Insensitivity Syndrome due to Coactivator Deficiency
C564544||Uruguay Faciocardiomusculoskeletal Syndrome|Faciocardiomusculoskeletal Syndrome, Uruguay Type
C563213||Myositis, Eosinophilic
C565872||Cephalin Lipidosis
D006319||Hearing Loss, Sensorineural|Cochlear Hearing Loss|Hearing Loss, Cochlear|Sensorineural Hearing Loss
D007647||Kernicterus|Bilirubin Encephalopathies|Bilirubin Encephalopathy|Encephalopathies, Bilirubin|Encephalopathies, Hyperbilirubinemic|Encephalopathy, Bilirubin|Encephalopathy, Hyperbilirubinemic|Hyperbilirubinemic Encephalopathies|Hyperbilirubinemic Encephalopathy
C563219||Fascial Dystrophy, Congenital
D006316||Hearing Loss, High-Frequency|Hearing Loss, High Frequency|High-Frequency Hearing Loss
C564970|255160||Myopathy, Hyaline Body, Autosomal Recessive
C563218||Brachyolmia Type 2|Brachyolmia, Maroteaux Type|Spondyloepiphyseal Dysplasia, Maroteaux Type
D006317||Hearing Loss, Noise-Induced|Acoustic Trauma|Hearing Loss, Noise Induced|Noise-Induced Hearing Loss
D006314||Hearing Loss, Conductive|Conductive Hearing Loss
D008976||Molluscum Contagiosum
D006315||Hearing Loss, Functional|Functional Hearing Loss|Hearing Loss, Nonorganic|Hearing Loss, Psychogenic|Nonorganic Hearing Loss|Psychogenic Hearing Loss
D006312||Hearing Loss, Bilateral|Bilateral Hearing Loss|Bilateral Hearing Losses|Hearing Losses, Bilateral|Loss, Bilateral Hearing|Losses, Bilateral Hearing
C538251||Amyotrophic lateral sclerosis, type 6|Amyotrophic Lateral Sclerosis 6
D054081||Neuronal Migration Disorders|Disorder, Neuronal Migration|Disorders, Neuronal Migration|Migration Disorder, Neuronal|Migration Disorders, Neuronal|Neuronal Migration Disorder
C566958|611378||Macular Degeneration, Age-Related, 9|ARMD9
D006313||Hearing Loss, Central|Central Hearing Loss|Cortical Deafness|Deafness, Cortical
C538250||Amyopathic dermatomyositis|Idiopathic inflammatory myopathy, familial|Idiopathic myopathy|Juvenile dermatomyositis|Juvenile myositis|Myopathy, familial idiopathic inflammatory
D054080||Vein of Galen Malformations|Galen Malformations Veins|Malformations Vein, Galen|Malformations Veins, Galen
C563744|609299||Prostate Cancer, Hereditary, 5|HPC5
D007642||Keratosis|Blennorrhagica, Keratosis|Blennorrhagicas, Keratosis|Blennorrhagicum, Keratoderma|Blennorrhagicums, Keratoderma|Keratoderma Blennorrhagicum|Keratoderma Blennorrhagicums|Keratoma|Keratomas|Keratoses|Keratosis Blennorrhagica|Keratosis Blennorrhagicas
D006311||Hearing Disorders|Distorted Hearing|Dysacusis|Hearing Disorder|Hearing, Distorted|Paracousis|Paracusis
D004715|131200||Endometriosis|ENDO1|Endometrioma|Endometriomas|Endometrioses|ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
148370|C536155||Keratolytic winter erythema|Erythrokeratolysis hiemalis ichthyosis|KWE|Oudtshoorn skin
D054079||Vascular Malformations|Malformations, Vascular|Malformation, Vascular|Vascular Malformation
605021||MYOCLONIC EPILEPSY, FAMILIAL INFANTILE|EIM|FIME
607688||PARKINSON DISEASE 11, AUTOSOMAL DOMINANT|PARK11
607687||HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3|HDLCQ3
C565841||Long Qt Syndrome 2/3
C565842||Brittle Bone Disorder
C538265||Attenuated familial adenomatous polyposis|Familial Adenomatous Polyposis, Attenuated
C565843||Cleidocranial Dysplasia, Recessive Form
C539595||Charcot-Marie-Tooth disease, Type 4A, axonal form|Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive|CMT2 with Vocal Cord Paresis, Autosomal Recessive
C565844||Cleft Palate, Deafness, and Oligodontia
D016715|176920||Proteus Syndrome|Elephant Man Disease|GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY ELATTOPROTEUS SYNDROME, INCLUDED|Proteus Like Syndrome|Proteus-Like Syndrome|Syndrome, Proteus-Like
D008949||Adenoma, Pleomorphic|Adenomas, Pleomorphic|Chondroid Syringoma|Chondroid Syringomas|Mixed Salivary Gland Tumor|Pleomorphic Adenoma|Pleomorphic Adenomas|Salivary Gland Tumor, Mixed|Syringoma, Chondroid|Syringomas, Chondroid
C538269||Aughton syndrome|Dextrocardia, microphthalmia, cleft palate, and mental retardation|Dextrocardia with unusual facies and microphthalmia
C538268||Auditory neuropathy|Auditory dys-synchrony|Familial auditory neuropathy|Progressive auditory neuropathy
D021922||Discrete Subaortic Stenosis|Discrete Subaortic Stenoses|Stenoses, Discrete Subaortic|Stenosis, Discrete Subaortic|Subaortic Stenoses, Discrete|Subaortic Stenosis, Discrete
D008947||Mixed Connective Tissue Disease|Connective Tissue Disease, Mixed|MCTD|Sharp Syndrome|Syndrome, Sharp
D007617||Kaposi Varicelliform Eruption|Eczema Herpeticum|Eczema Vaccinatum|Eruption, Kaposi&apos;s Varicelliform|Eruption, Kaposi Varicelliform|Kaposi&apos;s Varicelliform Eruption|Kaposis Varicelliform Eruption|Varicelliform Eruption, Kaposi|Varicelliform Eruption, Kaposi&apos;s
604290|C536004||Familial apoceruloplasmin deficiency|Aceruloplasminemia|Ceruloplasmin deficiency|CERULOPLASMIN DEFICIENCY, INCLUDED|HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, INCLUDED|Hereditary hypoceruloplasminemia|Hypoceruloplasminemia|HYPOCERULOPLASMINEMIA, INCLUDED
D008946||Mitral Valve Stenosis|Mitral Stenoses|Mitral Stenosis|Mitral Valve Stenoses|Stenoses, Mitral|Stenoses, Mitral Valve|Stenosis, Mitral|Stenosis, Mitral Valve|Valve Stenoses, Mitral|Valve Stenosis, Mitral
D008945||Mitral Valve Prolapse|Click Murmur Syndrome|Click-Murmur Syndrome|Click-Murmur Syndrome, Mitral|Click-Murmur Syndromes|Click-Murmur Syndrome, Systolic|Floppy Mitral Valve|Floppy Mitral Valves|Mitral Click Murmur Syndrome|Mitral Click-Murmur Syndrome|Mitral Valve, Floppy|Mitral Valve, Prolapsed|Mitral Valve Prolapses|Mitral Valve Prolapse Syndrome|Mitral Valves, Floppy|Mitral Valves, Prolapsed|Prolapsed Mitral Valve|Prolapsed Mitral Valves|Prolapse, Mitral Valve|Prolapses, Mitral Valve|Syndrome, Click-Murmur|Syndrome, Mitral Click-Murmur|Syndromes, Click-Murmur|Syndrome, Systolic Click-Murmur|Systolic Click Murmur Syndrome|Systolic Click-Murmur Syndrome|Valve, Prolapsed Mitral|Valve Prolapse, Mitral|Valve Prolapses, Mitral|Valves, Prolapsed Mitral
D008944||Mitral Valve Insufficiency|Incompetence, Mitral|Incompetence, Mitral Valve|Insufficiency, Mitral|Insufficiency, Mitral Valve|Mitral Incompetence|Mitral Insufficiency|Mitral Regurgitation|Mitral Valve Incompetence|Mitral Valve Regurgitation|Regurgitation, Mitral|Regurgitation, Mitral Valve|Valve Incompetence, Mitral|Valve Insufficiency, Mitral|Valve Regurgitation, Mitral
D054092||Foramen Ovale, Patent|Oval Foramen, Patent|Patent Foramen Ovale|Patent Oval Foramen
D054091||Periventricular Nodular Heterotopia|Bilateral Periventricular Nodular Heterotopia|Familial Nodular Heterotopia|Familial Nodular Heterotopias|Heterotopia, Familial Nodular|Heterotopia, Periventricular Nodular|Heterotopia, Periventricular, X-Linked Dominant|Heterotopias, Familial Nodular|Heterotopias, Periventricular|Heterotopias, Periventricular Nodular|Heterotopias, X-Linked Periventricular|Heterotopia, X-Linked Periventricular|Nodular Heterotopia, Bilateral Periventricular|Nodular Heterotopia, Familial|Nodular Heterotopia, Periventricular|Nodular Heterotopias, Familial|Nodular Heterotopias, Periventricular|Periventricular Heterotopia|Periventricular Heterotopias|Periventricular Heterotopias, X-Linked|Periventricular Heterotopia, X Linked|Periventricular Heterotopia, X-Linked|Periventricular Nodular Heterotopia 1|Periventricular Nodular Heterotopias|X-Linked Periventricular Heterotopia|X-Linked Periventricular Heterotopias
C564519||Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia|Bresek Syndrome|Bresheck Syndrome
C565847||Circumvallate Placenta Syndrome
C538260||Atresia of small intestine|Congenital atresia of the small intestine|Small intestine atresia
C565848||Chromosomal Instability with Tissue-Specific Radiosensitivity
D054084||Myocardial Bridging|Bridging, Myocardial|Bridgings, Myocardial|Myocardial Bridgings
D054083||Ectopia Cordis|Cordis, Ectopia
D063806||Myalgia|Muscle Pain|Muscle Soreness|Muscle Sorenesses|Muscle Tenderness|Pain, Muscle|Pains, Muscle|Soreness, Muscle|Tenderness, Muscle
C564278|608180||Synpolydactyly 2|SPD2|Synpolydactyly, 3, 3-Prime, 4, associated with metacarpal and metatarsal synostoses|SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
D006009|232300||Glycogen Storage Disease Type II|Acid Alpha-Glucosidase Deficiencies|Acid Alpha Glucosidase Deficiency|Acid Alpha-Glucosidase Deficiency|Acid Maltase Deficiencies|Acid Maltase Deficiency|Acid Maltase Deficiency Disease|Adult Glycogen Storage Disease Type II|Alpha-1,4-Glucosidase Deficiencies|Alpha 1,4 Glucosidase Deficiency|Alpha-1,4-Glucosidase Deficiency|Alpha-Glucosidase Deficiencies|Alpha-Glucosidase Deficiencies, Acid|Alpha-Glucosidase Deficiency|Alpha-Glucosidase Deficiency, Acid|AMD|CARDIOMEGALIA GLYCOGENICA DIFFUSA|Deficiencies, Acid Alpha-Glucosidase|Deficiencies, Acid Maltase|Deficiencies, Alpha-1,4-Glucosidase|Deficiencies, GAA|Deficiency, Acid Alpha-Glucosidase|Deficiency, Acid Maltase|Deficiency, Alpha-1,4-Glucosidase|Deficiency Disease, Acid Maltase|Deficiency Disease, Lysosomal alpha-1,4-Glucosidase|Deficiency, GAA|Deficiency of Alpha Glucosidase|Deficiency of Alpha-Glucosidase|Disease, Pompe|Disease, Pompe&apos;s|GAA Deficiencies|GAA Deficiency|Generalized Glycogenoses|Generalized Glycogenosis|Glycogenoses, Generalized|Glycogenosis 2|Glycogenosis, Generalized|GLYCOGENOSIS, GENERALIZED, CARDIAC FORM|Glycogenosis Type II|Glycogen Storage Disease II|Glycogen Storage Disease Type 2|Glycogen Storage Disease Type II, Adult|Glycogen Storage Disease Type II, Infantile|Glycogen Storage Disease Type II, Juvenile|GSD2|GSD2s|GSD II|GSD II;ACID ALPHA-GLUCOSIDASE DEFICIENCY|Infantile Glycogen Storage Disease Type II|Juvenile Glycogen Storage Disease Type II|Lysosomal alpha 1,4 Glucosidase Deficiency Disease|Lysosomal alpha-1,4-Glucosidase Deficiency Disease|Maltase Deficiencies, Acid|Pompe Disease|Pompe&apos;s Disease|Pompes Disease|Type II, Glycogenosis|Type IIs, Glycogenosis
D063807||Dandruff|Scurf
606346||DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY,|INCLUDED
C565726|609734||Proopiomelanocortin Deficiency|Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair
C565852||Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
C538277||Prata Lib&#233;ral Gon&#231;alves syndrome|Brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis|Prata Liberal Goncalves syndrome
C565853||Chondrodysplasia Punctata Syndrome
C538276||Prader-Willi habitus, osteopenia, and camptodactyly|Urban Rogers Meyer syndrome|Urban-Rogers-Meyer Syndrome
C565855||Chondrodysplasia Calcificans Metaphysealis
C538274||Autoimmune oophoritis
D007627||Keloid|Keloids
C565850||Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism|Boucher-Neuhauser Syndrome
C538279||Catamenial pneumothorax
C565851||Chorea, Benign Familial
C564526||Macrothrombocytopenia, X-Linked
C564525||Dyserythropoietic Anemia with Thrombocytopenia|Dyserythropoietic Anemia and Thrombocytopenia|Gata1-Related Cytopenia|Gata1-Related X-Linked Cytopenia|X-Linked Macrothrombocytopenia
C565856||Cholestasis with Gallstone, Ataxia, and Visual Disturbance
C538273||Autoimmune enteropathy
C538272||Ausems Wittebol-Post Hennekam syndrome|Cleft lip with progressive retinopathy
C538271||Auriculoosteodysplasia|Auriculo-osteodysplasia|Multiple osseous dysplasia, characteristic ear shape, and short stature
C562441|243150||Intestinal Atresia, Multiple|Familial Intestinal Polyatresia Syndrome|FIPA|MINAT
D054098||Thrombocytopenia, Neonatal Alloimmune|Alloimmune Thrombocytopenia, Neonatal|Alloimmune Thrombocytopenias, Neonatal|Neonatal Alloimmune Thrombocytopenia|Neonatal Alloimmune Thrombocytopenias|Neonatal Thrombocytopenia|Neonatal Thrombocytopenias|Thrombocytopenia, Neonatal|Thrombocytopenias, Neonatal|Thrombocytopenias, Neonatal Alloimmune
D005198|134600||Fanconi Syndrome|Adult Fanconi Syndrome|Bickel Syndrome, Fanconi|De Toni-Debre-Fanconi Syndrome|Diabete, Pseudo-Phlorizin|Diabetes, Pseudo-Phlorizin|Fanconi Bickel Syndrome|Fanconi-Bickel Syndrome|Fanconi-Bickel Syndromes|Fanconi Renotubular Syndrome|FANCONI RENOTUBULAR SYNDROME 1|FANCONI RENOTUBULAR SYNDROME 2|Fanconi Syndrome, Adult|Fanconi Syndrome, Renal|Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance|Fanconi Syndrome without Cystinosis|Fanconi Type Glycogenosis|FBS|FRTS|FRTS1|FRTS2|Glycogenosis, Fanconi Type|Glycogen Storage Disease XI|Hepatic Glycogenosis with Amino Aciduria and Glucosuria|Hepatic Glycogenosis with Fanconi Nephropathy|Hepatorenal Glycogenosis with Renal Fanconi Syndrome|Idiopathic De Toni-Debre-Fanconi Syndrome|Lignac Fanconi Syndrome|Lignac-Fanconi Syndrome|Luder Sheldon Syndrome|Luder-Sheldon Syndrome|Neonatal De Toni-Debre-Fanconi Syndrome|Primary Toni-Debre-Fanconi Syndrome|Proximal Renal Tubular Dysfunction|Pseudo-Phlorizin Diabete|Pseudo Phlorizin Diabetes|Pseudo-Phlorizin Diabetes|Renal Fanconi Syndrome|Renotubular Syndrome, Fanconi|RFS|Syndrome, Adult Fanconi|Syndrome, Fanconi|Syndrome, Fanconi Bickel|Syndrome, Fanconi-Bickel|Syndrome, Fanconi Renotubular|Syndrome, Lignac-Fanconi|Syndrome, Luder-Sheldon|Syndrome, Renal Fanconi|Syndromes, Fanconi-Bickel|Toni-Debre-Fanconi Syndrome
C538616|168300||Paramyotonia congenita of Von Eulenburg|Paralysis Periodica Paramyotonia|Paralysis periodica paramyotonica|PARALYSIS PERIODICA PARAMYOTONICA PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED|Paramyotonia Congenita Without Cold Paralysis|PMC|Von Eulenberg&apos;s Disease
C538200||Deafness, autosomal dominant nonsyndromic sensorineural 3|Neurosensory nonsyndromic dominant deafness 1
C565821||Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1|Left Ventricular Noncompaction, Isolated, Autosomal Dominant
D016506|169600||Pemphigus, Benign Familial|BCPM|Benign Chronic Pemphigus|Benign Familial Pemphigus|Familial Benign Chronic Pemphigus|Familial Pemphigus, Benign|Hailey Hailey Disease|Hailey-Hailey Disease|HHD|PEMPHIGUS, BENIGN FAMILIAL
C538204||Deafness, congenital onychodystrophy, recessive form|Deafness, Onycho-Osteodystrophy, mental Retardation syndrome
C538201||Deafness, autosomal dominant nonsyndromic sensorineural 53
D012192||Retroviridae Infections|Infection, Retroviridae|Infection, Retrovirus|Infections, Retroviridae|Infections, Retrovirus|Retroviridae Infection|Retrovirus Infection|Retrovirus Infections
C563789|609136||Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease|PCWH|Waardenburg-Shah Syndrome, Neurologic Variant
D008924||Mite Infestations|Acariasis|Infestation, Mite|Infestations, Mite|Mange|Mite Infestation
C565825||Cerebellar Ataxia, Deafness, and Narcolepsy
608984||ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT|ADSA|SNAX1
D024182||Uniparental Disomy|Disomies, Uniparental|Disomy, Uniparental|Heterodisomies, Uniparental|Heterodisomy, Uniparental|Isodisomies, Uniparental|Uniparental Disomies|Uniparental Heterodisomies|Uniparental Heterodisomy|Uniparental Isodisomies|Uniparental Isodisomy
D012186||Retroperitoneal Neoplasms|Neoplasm, Retroperitoneal|Neoplasms, Retroperitoneal|Retroperitoneal Neoplasm
184850|D016750||Stiff-Person Syndrome|Congenital Stiff-Man Syndrome|Congenital Stiff-Person Syndrome|Familial Hyperekplexia|Hereditary Hyperekplexia|Hyperekplexia|Moersch Woltmann Syndrome|Moersch-Woltmann Syndrome|PER, INCLUDED|PERM, INCLUDED|SPS|Startle Syndrome|Stiff-Baby Syndrome|Stiffman Syndrome|Stiff Man Syndrome|Stiff-Man Syndrome|Stiff Person Syndrome|Stiff-Trunk Syndrome|STIFF-TRUNK SYNDROME PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED|Syndrome, Moersch-Woltmann|Syndrome, Stiffman|Syndrome, Stiff-Man|Syndrome, Stiff-Person
D012185||Retroperitoneal Fibrosis|Chronic Periaortitides|Chronic Periaortitis|Disease, Ormond|Disease, Ormond&apos;s|Fibroses, Retroperitoneal|Fibrosis, Inflammatory Perianeurysmal|Fibrosis, Perianeurysmal Inflammatory|Fibrosis, Retroperitoneal|Idiopathic Retroperitoneal Fibrosis|Inflammatory Fibrosis, Perianeurysmal|Inflammatory Perianeurysmal Fibrosis|Ormond Disease|Ormond&apos;s Disease|Perianeurysmal Fibrosis, Inflammatory|Perianeurysmal Inflammatory Fibrosis|Periaortitides, Chronic|Periaortitis, Chronic|Retroperitoneal Fibroses
137750|C564234||Glaucoma 1, Open Angle, A|Glaucoma, Primary Open Angle, Juvenile-Onset, 1|GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1;JOAG1 GLAUCOMA 1, OPEN ANGLE, L, INCLUDED|GLC1A|GLC1L, INCLUDED
D012188||Retropneumoperitoneum|Pneumoretroperitoneum
C563436|600858||Cardiomyopathy, Familial Hypertrophic, 6|CMH6
D050500||Pancreatitis, Chronic|Chronic Pancreatitis
C536940|274000||Absent radii and thrombocytopenia|Chromosome 1q21.1 Deletion Syndrome, 200-Kb|Radial Aplasia-Amegakaryocytic Thrombocytopenia|Radial Aplasia-Thrombocytopenia Syndrome|TAR|TAR Syndrome|Thrombocytopenia Absent Radii|Thrombocytopenia absent radius syndrome|Thrombocytopenia-Absent Radius Syndrome
C565830||Myasthenic Syndrome due to Mutation in SCN4A
C538211||Dens in dente and palatal invaginations
C538210||Dennis Fairhurst Moore syndrome|Hallermam Streiff like syndrome
C567066|300659||Mental Retardation, X-Linked 93|Mental Retardation, X-Linked, With Macrocephaly|MRX93
C538213||Dentin dysplasia sclerotic bones|Dentin Dysplasia with Sclerotic Bones|Sclerotic bones with dentin dysplasia
C538326|300221||Hodgkin disease, X-linked pseudoautosomal
C565834||Beta Thalassemia, Dominant Inclusion Body Type|Dyserythropoietic Anemia, Congenital, Irish or Weatherall Type
C566528|602540||HID Syndrome|HID SYNDROME|Hystrix-Like Ichthyosis with Deafness|Ichthyosis, Hystrix-Like, with Deafness
608971||SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE|SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
C538207||Deletion 6q16 q21|Monosomy 6q16 q21
C538206||Deal Barratt Dillon syndrome|Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea
C538205||Deafness, neurosensory, autosomal recessive 47
C536993|608796||Moyamoya disease 3|MYMY3
C538221||Green Sandford Davison syndrome
C538220||Dermatoleukodystrophy
C535382|208085||Arthrogryposis renal dysfunction cholestasis syndrome|ARCS|ARCS1|ARCS2|ARC syndrome|Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|Arthrogryposis, Renal Dysfunction, And Cholestasis|ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1|ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
C538224||Adams Nance syndrome|Tachycardia hypertension microphthalmos hyperglycinuria
C538223||Acute zonal occult outer retinopathy
D012170||Retinal Vein Occlusion|Occlusion, Retinal Vein|Occlusions, Retinal Vein|Retinal Vein Occlusions|Retinal Vein Thromboses|Retinal Vein Thrombosis|Thromboses, Retinal Vein|Thrombosis, Retinal Vein|Vein Occlusion, Retinal|Vein Occlusions, Retinal|Vein Thromboses, Retinal|Vein Thrombosis, Retinal
C565808||Generalized Epilepsy with Febrile Seizures Plus
C565801||Hemosiderosis, Systemic, due to Aceruloplasminemia
D000189||Actinobacillus Infections|Actinobacillus Infection|Infection, Actinobacillus|Infections, Actinobacillus
C537482|604187||Spastic paraplegia 10, autosomal dominant|Autosomal dominant spastic paraplegia|SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY|SPG10
C565803||Carney Triad|Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma
D000187||Actinobacillosis|Actinobacilloses
203655|C537055||Alopecia universalis|Alopecia universalis congenita|ALUNC|Atrichia, Generalized|Generalized Atrichia
D000193||Actinomycetales Infections|Actinomycetales Infection|Actinomycete Infection|Actinomycete Infections|Infection, Actinomycetales|Infection, Actinomycete|Infections, Actinomycetales|Infections, Actinomycete
C538219||Dermatofibrosarcoma protuberans|Familial dermatofibrosarcoma protuberans|Giant cell fibroblastoma|Metastatic dermatofibrosarcoma protuberans
D012164||Retinal Diseases|Disease, Retinal|Diseases, Retinal|Retinal Disease
C538218||Dermatitis herpetiformis, familial
C538217||Der Kaloustian Mcintosh Silver syndrome
D012162||Retinal Degeneration|Degeneration, Retinal|Degenerations, Retinal|Retinal Degenerations
D012163||Retinal Detachment|Detachment, Retinal|Detachments, Retinal|Retinal Detachments|Retinal Pigment Epithelial Detachment
D012166||Retinal Hemorrhage|Hemorrhage, Retinal|Retinal Hemorrhages
D012167||Retinal Perforations|Break, Retinal|Breaks, Retinal|Dialyses, Retinal|Hole, Macular|Hole, Retinal|Holes, Macular|Holes, Retinal|Macular Hole|Macular Holes|Perforation, Retinal|Perforations, Retinal|Retinal Break|Retinal Breaks|Retinal Dialyse|Retinal Dialyses|Retinal Hole|Retinal Holes|Retinal Perforation|Retinal Tear|Retinal Tears|Tear, Retinal|Tears, Retinal
C538232||Adenosarcoma of the uterus|Mullerian adenosarcoma of the uterus|Uterine adenosarcoma
C538231||Adenocarcinoma of lung|Lung adenocarcinoma
C536586|104200||Alport syndrome, dominant type|ALPORT SYNDROME, AUTOSOMAL DOMINANT|Renal failure, and sensorineural hearing loss
C538230||Adenocarcinoid tumor
D012183||Retrograde Degeneration|Axonal Reaction|Axonal Reactions|Axon Reaction|Axon Reactions|Degeneration, Nissl|Degeneration, Retrograde|Degenerations, Retrograde|Degenerations, Transneuronal Retrograde|Degenerations, Trans-Synaptic|Degeneration, Transneuronal Retrograde|Degeneration, Trans-Synaptic|Nissl Degeneration|Reaction, Axon|Reaction, Axonal|Reactions, Axon|Reactions, Axonal|Retrograde Degenerations|Retrograde Degenerations, Transneuronal|Retrograde Degeneration, Transneuronal|Transneuronal Retrograde Degeneration|Transneuronal Retrograde Degenerations|Trans Synaptic Degeneration|Trans-Synaptic Degeneration|Trans-Synaptic Degenerations
C538234||Adenosine monophosphate deaminase deficiency|Myoadenylate Deaminase Deficiency, Myopathy due to
D012181||Retrocochlear Diseases|Disease, Retrocochlear|Diseases, Retrocochlear|Hearing Loss, Retrocochlear|Retrocochlear Disease|Retrocochlear Hearing Loss
D000197||Actinomycosis, Cervicofacial|Actinomycoses, Cervicofacial|Cervicofacial Actinomycoses|Cervicofacial Actinomycosis
C537177|606693||Parkinson disease 9|CLN12, INCLUDED|KRS|Kufor-Rakeb syndrome|Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia|PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA;KRPPD CEROID LIPOFUSCINOSIS, NEURONAL, 12, INCLUDED|PARK9|PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE
D000196||Actinomycosis|Actinomyces Infection|Actinomyces Infections|Actinomycoses|Infection, Actinomyces|Infections, Actinomyces
C565817||Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
C564968|255600||Myosclerosis, Autosomal Recessive|Myopathy, Myosclerotic|Myosclerosis, Congenital, of Lowenthal
C565812||Generalized Epilepsy With Febrile Seizures Plus, Type 5|GEFSP5|GEFS, Type 5
C565813||Febrile Seizures Associated with Afebrile Seizures
C562637|226500||Epidermolysis Bullosa Dystrophica Neurotrophica|EBR3|Epidermolysis Bullosa Progressiva, Recessive|Epidermolysis Bullosa With Congenital Deafness
193235||VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY|ADNIV|PROLIFERATIVE VITREORETINOPATHY|PVR|VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, AUTOSOMAL DOMINANT|VRNI
C537984|601098||Charcot-Marie-Tooth disease, Type 1C|Charcot-Marie-Tooth disease, demyelinating, Type 1C|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C|Charcot-Marie-Tooth Neuropathy, Type 1C Neuropathy, Hereditary Motor And Sensory, Type IC|CMT1C|CMT, Slow Nerve Conduction Type C|HMSN1C|HMSNIC|HMSN IC|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
C536919|103500||Tietz syndrome|Albinism and complete nerve deafness|Albinism-deafness of Tietz|Hypopigmentation/deafness of Tietz|Tietz albinism-deafness syndrome
C564565|300211||Episodic Muscle Weakness, X-Linked|EMWX
C538229||Adenoameloblastoma|Adenomatoid ameloblastoma|Adenomatoid odontogenic tumor|Pleomorphic adenomatoid tumor
C564678|606688||Spongiform Encephalopathy with Neuropsychiatric Features
C538228||Adenine phosphoribosyltransferase deficiency|2,8-Dihydroxyadenine Urolithiasis|2,8-Dihydroxyadeninuria|APRT Deficiency|DHA Crystalline Nephropathy|Urolithiasis, 2,8-Dihydroxyadenine
D012173||Retinitis|Neuroretinitis
C538104|260300||Pallidopyramidal syndrome|Pallido-pyramidal disease|Pallido-Pyramidal Syndrome|PALLIDOPYRAMIDAL SYNDROME|PARK15|Parkinson Disease 15, Autosomal Recessive|PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET|Parkinsonian-Pyramidal Syndrome|PKPS
C566044|613765||Cardiomyopathy, Familial Hypertrophic, 9|CMH9
D058456|300216||Retinal Telangiectasis|Coats Disease|Disease, Coats|Retinal Telangiectases|RETINAL TELANGIECTASIS|Telangiectases, Retinal|Telangiectasis, Retinal
D012178||Retinopathy of Prematurity|Fibroplasia, Retrolental|Fibroplasias, Retrolental|Prematurity Retinopathies|Prematurity Retinopathy|Retrolental Fibroplasia|Retrolental Fibroplasias
C538376|610021||Hyperinsulinemic hypoglycemia, familial, 7|HHF7|Hyperinsulinemic hypoglycemia, exercise-induced
300519|C564495||Martin-Probst Deafness-Mental Retardation Syndrome|MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME|MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE|MRXSMP
C565904||Beta-Aminoisobutyric Acid, Urinary Excretion of|BAIB Urinary Excretion|Hyper-Beta-Aminoisobutyric Aciduria
C565905||Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification|Cerebral Aneurysm-Cirrhosis Syndrome
311250||ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO|ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY|OTC DEFICIENCY VALPROATE SENSITIVITY, INCLUDED
C565907||BCG Infection, Generalized Familial
C565902||Biemond Syndrome II
D063748||Bland White Garland Syndrome|ALCAPA|ALCAPA Syndrome|ALCAPA Syndromes|Bland-White-Garland Syndrome|Syndrome, ALCAPA|Syndrome, Bland-White-Garland
D000292||Pelvic Inflammatory Disease|Adnexitis|Disease, Inflammatory Pelvic|Disease, Pelvic Inflammatory|Diseases, Inflammatory Pelvic|Diseases, Pelvic Inflammatory|Inflammatory Disease, Pelvic|Inflammatory Diseases, Pelvic|Inflammatory Pelvic Disease|Inflammatory Pelvic Diseases|Pelvic Disease, Inflammatory|Pelvic Diseases, Inflammatory|Pelvic Inflammatory Diseases
C565908||BCG and Salmonella Infection, Disseminated
D000291||Adnexal Diseases|Adnexal Disease|Disease, Adnexal|Diseases, Adnexal
C565909||BCG Infection, Generalized Familial Semibenign, Autosomal Dominant
107320|C531622||Familial antiphospholipid syndrome|Antiphospholipid Syndrome, Familial|Lupus anticoagulant, familial
226980|C536739||Wolcott-Rallison syndrome|Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|IDDM-MED syndrome|MED-IDDM syndrome|WOLCOTT-RALLISON SYNDROME
D013595||Syringomyelia|Hydrosyringomyelia|Hydrosyringomyelias|Morvan Disease|Morvan Diseases|Morvan&apos;s Disease|Morvans Disease|Morvan&apos;s Diseases|Myelosyringoses|Myelosyringosis|Syringomyelias|Syringomyelus
D013592||Syphilis, Latent|Latent Stage Syphili|Latent Stage Syphilis|Latent Syphilis|Syphili, Latent Stage|Syphilis, Latent Stage
C535744|609180||Congenital disorder of glycosylation type 1F|CDG1F|CDGIf|CDG If|Congenital Disorder of Glycosylation, Type IF
C562407|180920||Aplasia of Lacrimal and Salivary Glands|ALSG|LACRIMAL PUNCTA, ABSENCE OF, INCLUDED|Salivary Glands, Absence of|SALIVARY GLANDS, ABSENCE OF PAROTID APLASIA OR HYPOPLASIA, INCLUDED
C565910||Bare Lymphocyte Syndrome, Type II, Complementation Group A|Bare Lymphocyte Syndrome, Type II, Complementation Group B|Bare Lymphocyte Syndrome, Type II, Complementation Group C|Bare Lymphocyte Syndrome, Type II, Complementation Group D|Bare Lymphocyte Syndrome, Type II, Complementation Group E
C563657|610832||Fanconi Anemia, Complementation Group N|FANCN
D012282||Rickettsia Infections|Infection, Rickettsia|Infections, Rickettsia|Rickettsia Infection
C567416|612109||Oculoauricular Syndrome|MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR
C565916||Bardet-Biedl Syndrome 7
D063730||Rickets, Hypophosphatemic|Acquired Vitamin D Resistant Rickets|Acquired Vitamin D-Resistant Rickets|Hypophosphatemia, Vitamin D-Resistant Rickets|Hypophosphatemic Ricket|Hypophosphatemic Rickets|Hypophosphatemic Vitamin D Resistant Rickets|Hypophosphatemic Vitamin D-Resistant Rickets|Ricket, Hypophosphatemic|Rickets, Vitamin D Resistant|Rickets, Vitamin D-Resistant|Vitamin D-Resistant Rickets
C565917||Bardet-Biedl Syndrome 8
C565918||Bardet-Biedl Syndrome 9
121800|C535475||Corneal Dystrophy, Crystalline, of Schnyder|Corneal dystrophy crystalline of Schnyder|CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER|CORNEAL DYSTROPHY, SCHNYDER|SCCD|Schnyder corneal dystrophy|Schnyder crystalline corneal dystrophy
C563697|609566||Parietal Foramina 3|PFM3
C565919||Bardet-Biedl Syndrome 10
D000755|603903||Anemia, Sickle Cell|Anemias, Sickle Cell|Cell Disease, Sickle|Cell Diseases, Sickle|Cell Disorder, Sickle|Cell Disorders, Sickle|Disease, Hemoglobin S|HbS Disease|Hemoglobin S Disease|Hemoglobin S Diseases|Sickle Cell Anemia|Sickle Cell Anemias|Sickle Cell Disease|Sickle Cell Diseases|Sickle Cell Disorder|Sickle Cell Disorders|Sickling Disorder Due to Hemoglobin S
C537209|267750||Knobloch syndrome|KNO|KNO1|KNOBLOCH SYNDROME 1|Knobloch Syndrome, Type I|Passos-Bueno syndrome|Retinal Detachment and Occipital Encephalocele|Retinal detachment occipital encephalocele
D012279||Rickets|Rachitides|Rachitis
C564602|607239||Deafness, Autosomal Recessive 33|DFNB33
C563918|263400||Erythrocytosis, Familial, 2|ECYT2|Erythrocytosis, Autosomal Recessive Benign|Polycythemia, Chuvash Type|Polycythemia, VHL-Dependent
C535807|157900||Moebius syndrome 1|MBS|MOBIUS SYNDROME|MOEBIUS SEQUENCE|MOEBIUS SYNDROME
C538303||Chromosome 13 ring|Ring chromosome 13
C538302||Chromosome 12p partial deletion|12p monosomy, partial|Deletion 12p12 p11|Deletion 12p13|Monosomy 12p11|Monosomy 12p13
D013580||Synostosis|Synostoses
C567357|612292||Birk-Barel Mental Retardation Dysmorphism Syndrome|Birk-Barel Syndrome|Mental Retardation with Hypotonia and Facial Dysmorphism
C538301||Chromosome 12p deletion|Deletion 12p|Monosomy 12p
C566900|611637||Primary Lateral Sclerosis, Adult, 1|PLSA|PLSA1|PLS, Adult
C538300||Chromosome 12, trisomy 12q|Duplication 12q|Trisomy 12q
309200|C564108||Major Affective Disorder 2|BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD2|Manic-Depressive Illness|Manic-Depressive Psychosis, X-Linked|MDI|MDX
D000267||Tissue Adhesions|Adhesions, Surgery-Induced Tissue|Adhesions, Surgical|Adhesions, Tissue|Adhesion, Surgery-Induced Tissue|Adhesion, Surgical|Adhesion, Tissue|Surgery-Induced Tissue Adhesion|Surgery Induced Tissue Adhesions|Surgery-Induced Tissue Adhesions|Surgical Adhesion|Surgical Adhesions|Tissue Adhesion|Tissue Adhesions, Surgery-Induced|Tissue Adhesion, Surgery-Induced
D063766||Pediatric Obesity|Adolescent Obesity|Childhood Obesity|Childhood Onset Obesity|Child Obesity|Obesity, Adolescent|Obesity, Child|Obesity, Childhood|Obesity, Childhood Onset|Obesity in Adolescence|Obesity in Childhood|Obesity, Pediatric|Onset Obesity, Childhood
D000270||Adie Syndrome|Adie&apos;s Syndrome|Holmes Adie Syndrome|Holmes-Adie Syndrome|Poorly Reacting Pupil|Poorly Reacting Pupils|Pupil, Poorly Reacting|Pupils, Poorly Reacting|Syndrome, Adie|Syndrome, Adie&apos;s|Syndrome, Holmes-Adie
C563856|608800||Sudden Infant Death with Dysgenesis of the Testes Syndrome|SIDDT
D013576||Syndactyly|Polysyndactyly|Syndactylia|Syndactylias|Syndactylies
D013577||Syndrome|Clusters, Symptom|Cluster, Symptom|Symptom Cluster|Symptom Clusters|Syndromes
D013575||Syncope|Attack, Drop|Cardiogenic Syncope|Cardiogenic Syncopes|Carotid Sinus Syncope|Carotid Sinus Syncopes|Convulsive Syncope|Convulsive Syncopes|Deglutitional Syncope|Deglutitional Syncopes|Drop Attack|Drop Attacks|Effort Syncope|Effort Syncopes|Episode, Syncopal|Fainting|Hyperventilation Syncope|Hyperventilation Syncopes|Micturition Syncope|Micturition Syncopes|Postural Syncope|Postural Syncopes|Presyncope|Presyncopes|Situational Syncope|Situational Syncopes|Stokes-Adams Syncope|Stokes-Adams Syncopes|Syncopal Episode|Syncopal Episodes|Syncopal Vertigo|Syncope, Cardiogenic|Syncope, Carotid Sinus|Syncope, Convulsive|Syncope, Deglutitional|Syncope, Effort|Syncope, Hyperventilation|Syncope, Micturition|Syncope, Postural|Syncopes|Syncopes, Cardiogenic|Syncopes, Carotid Sinus|Syncopes, Convulsive|Syncopes, Deglutitional|Syncopes, Effort|Syncopes, Hyperventilation|Syncope, Situational|Syncopes, Micturition|Syncopes, Postural|Syncopes, Situational|Syncopes, Stokes-Adams|Syncope, Stokes Adams|Syncope, Stokes-Adams|Syncopes, Tussive|Syncope, Tussive|Tussive Syncope|Tussive Syncopes|Vertigos, Syncopal|Vertigo, Syncopal
C538310||Chromosome 19 ring|Ring chromosome 19
300589||NYSTAGMUS 5, CONGENITAL, X-LINKED|NYS5
C538314||Chromosome 2, monosomy 2pter p24|Deletion 2pter p24|Monosomy 2pter p24
D013590||Syphilis, Congenital|Congenital Syphilis|Hutchinson&apos;s Teeth|Hutchinsons Teeth|Hutchinson Teeth|Teeth, Hutchinson&apos;s
C538313||Chromosome 2, monosomy 2p22|Deletion 2p22|Monosomy 2p22
D013591||Syphilis, Cutaneous|Cutaneous Syphilis|Skin Syphilis|Syphilid|Syphilids|Syphilis, Skin
C538312||Chromosome 1q, duplication 1q12 q21|Duplication 1q12 q21
C538311||Chromosome 19, trisomy 19q|Duplication 19q|Trisomy 19q
D000274||Adiposis Dolorosa|Adiposalgia|Adipose Tissue Rheumatism|Anders Syndrome|Dercum Disease|Dercum&apos;s Disease|Dercums Disease|Disease, Dercum|Disease, Dercum&apos;s|Lipomatosis Dolorosa|Morbus Dercum
D000275||Adjustment Disorders|Adjustment Disorder|Anniversary Reaction|Anniversary Reactions|Depression, Reactive|Depressions, Reactive|Disorder, Adjustment|Disorder, Reactive|Disorders, Adjustment|Disorders, Reactive|Disturbances, Transient Situational|Disturbance, Transient Situational|Reaction, Anniversary|Reactions, Anniversary|Reactive Depression|Reactive Depressions|Reactive Disorder|Reactive Disorders|Situational Disturbances, Transient|Situational Disturbance, Transient|Transient Situational Disturbance|Transient Situational Disturbances
D013589||Syphilis, Cardiovascular|Aortitides, Syphilitic|Aortitis, Syphilitic|Cardiovascular Syphilis|Syphilitic Aortitides|Syphilitic Aortitis
C538307||Chromosome 18, trisomy 18p|Duplication 18p|Trisomy 18p
C538306||Chromosome 18, tetrasomy 18p|18p Isochromosome|18p Tetrasomy|Isochromosome 18p|Tetrasomy 18p|Tetrasomy, Short Arm of Chromosome 18
D012253||Rib Fractures|Fracture, Rib|Fractures, Rib|Rib Fracture
C538305||Chromosome 18, deletion 18q23|Deletion 18q23|Monosomy 18q23
D013581||Synovial Cyst|Cysts, Synovial|Cyst, Synovial|Synovial Cysts
C538304||Chromosome 18 ring|Ring Chromosome 18
D013587||Syphilis|Great Pox|Pox, Great
D012257||Riboflavin Deficiency|Deficiencies, Riboflavin|Deficiency, Riboflavin|Riboflavin Deficiencies
C538309||Chromosome 18p deletion syndrome|18p deletion syndrome|18p minus syndrome|18p- syndrome|Del(18p) syndrome|Deletion 18p syndrome
D013585||Synovitis|Synovitides
D000757|206500||Anencephaly|Absence of Brain, Congenital|Anencephalia|Anencephalias|Anencephalies, Partial|Anencephalus|Anencephaly, Hemicranial|Anencephaly, Incomplete|Anencephaly, Partial|Aprosencephalies|Aprosencephaly|Brain Congenital Absence|Congenital Absence of Brain|Hemicranial Anencephaly|Incomplete Anencephaly|Partial Anencephalies|Partial Anencephaly
C538308||Chromosome 18, trisomy 18q|Duplication 18q|Trisomy 18q
D013586||Synovitis, Pigmented Villonodular|Pigmented Villonodular Synovitides|Pigmented Villonodular Synovitis|Synovitides, Pigmented Villonodular|Villonodular Synovitides, Pigmented|Villonodular Synovitis, Pigmented
155755|C536149||Melanoma astrocytoma syndrome|Cutaneous malignant melanoma and cerebral astrocytoma|Melanoma and neural system tumor syndrome|Melanoma-Astrocytoma Syndrome
C564732|278740||Xeroderma Pigmentosum, Complementation Group E|Xeroderma Pigmentosum V|XP5|XPE|XP, Group E
218800|D003414||Crigler-Najjar Syndrome|Crigler Najar Syndrome|Crigler-Najar Syndrome|Crigler Najjar Syndrome|CRIGLER-NAJJAR SYNDROME|Crigler Najjar Syndrome, Type 1|Crigler Najjar Syndrome, Type I|Crigler-Najjar Syndrome, Type I|Familial Nonhemolytic Unconjugated Hyperbilirubinemia|HBLRCN1|Hereditary Unconjugated Hyperbilirubinemia|HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
C563523|162210||Neurofibromatosis, Familial Spinal|FSNF
C563209|601492||Hyaluronidase Deficiency|HYALURONIDASE DEFICIENCY|MPS9|MPS IX|Mucopolysaccharidosis Type IX|MUCOPOLYSACCHARIDOSIS, TYPE IX
D006689|236000||Hodgkin Disease|Adult Hodgkin Lymphoma|Disease, Hodgkin|Disease, Hodgkins|Disease, Hodgkin&apos;s|Granuloma, Hodgkin|Granuloma, Hodgkins|Granuloma, Hodgkin&apos;s|Granuloma, Malignant|HODGKIN DISEASE|Hodgkin Granuloma|Hodgkin Lymphoma|Hodgkin Lymphoma, Adult|Hodgkin&apos;s Disease|Hodgkins Disease|Hodgkin&apos;s Granuloma|Hodgkins Granuloma|Hodgkin&apos;s Lymphoma|Hodgkins Lymphoma|Lymphocyte Depletion Hodgkin&apos;s Lymphoma|Lymphocyte Rich Classical Hodgkin&apos;s Lymphoma|Lymphocyte-Rich Classical Hodgkin&apos;s Lymphoma|Lymphogranuloma, Malignant|Lymphogranulomas, Malignant|Lymphoma, Hodgkin|Lymphoma, Hodgkin&apos;s|Malignant Granuloma|Malignant Granulomas|Malignant Lymphogranuloma|Malignant Lymphogranulomas|Mixed Cellularity Hodgkin&apos;s Lymphoma|Nodular Lymphocyte Predominant Hodgkin&apos;s Lymphoma|Nodular Lymphocyte-Predominant Hodgkin&apos;s Lymphoma|Nodular Sclerosing Hodgkin&apos;s Lymphoma
D012227||Rhinosporidiosis|Rhinosporidioses
D012226||Rhinoscleroma|Nasal Scleroma|Nasal Scleromas|Rhinoscleromas|Scleroma, Nasal|Scleromas, Nasal
C563721|609432||Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction|MSSD|Syndactyly, Malik-Percin Type|Syndactyly, Type IX
C562467|153200||Lymphedema, Hereditary, II|Lymphedema, Late-Onset|Lymphedema Praecox|Meige Disease|Meige Lymphedema
C567031|610997||Prostate Cancer, Hereditary, 9|HPC9
D012220||Rhinitis|Catarrh, Nasal|Catarrhs, Nasal|Nasal Catarrh|Nasal Catarrhs|Rhinitides
611067|C567023||Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4|Dsma4
D012223||Rhinitis, Vasomotor|Rhinitides, Vasomotor|Vasomotor Rhinitides|Vasomotor Rhinitis
D013554||Swine Erysipelas|Erysipelas, Swine
D051799||Delayed Graft Function|Graft Function, Delayed
D012224||Rhinophyma|Rhinophymas
D013555||Swine Vesicular Disease|Swine Vesicular Diseases|Vesicular Diseases, Swine|Vesicular Disease, Swine
D014884||Waterhouse-Friderichsen Syndrome|Adrenalitides, Meningococcal Hemorrhagic|Adrenalitis, Meningococcal Hemorrhagic|Fulminant Meningococcal Sepsis with Adrenal Apoplexy|Hemorrhagic Adrenalitides, Meningococcal|Hemorrhagic Adrenalitis, Meningococcal|Meningococcal Hemorrhagic Adrenalitides|Meningococcal Hemorrhagic Adrenalitis|Meningococcal Waterhouse Friderichsen Syndrome|Meningococcal Waterhouse-Friderichsen Syndrome|Purpura Fulminans (Waterhouse-Friderichsen Syndrome)|Syndrome, Meningococcal Waterhouse-Friderichsen|Waterhouse Friderichsen Syndrome|Waterhouse-Friderichsen Syndrome, Meningococcal|Waterhouse Friederichsen Syndrome|Waterhouse-Friederichsen Syndrome
D012221||Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Nonseasonal
D014883||Water-Electrolyte Imbalance|Imbalances, Water-Electrolyte|Imbalance, Water-Electrolyte|Water Electrolyte Imbalance|Water-Electrolyte Imbalances
D012222||Rhinitis, Atrophic|Atrophic Rhinitides|Atrophic Rhinitis|Ozena|Ozenas|Rhinitides, Atrophic
D013553||Swine Diseases|Diseases, Swine|Disease, Swine|Swine Disease
C566602|601942||Diabetes Mellitus, Insulin-Dependent, 10|IDDM10|Insulin-Dependent Diabetes Mellitus 10
D000258||Adenovirus Infections, Human|Adenovirus Infection, Human|Fever, Pharyngo-Conjunctival|Human Adenovirus Infection|Human Adenovirus Infections|Infection, Human Adenovirus|Infections, Human Adenovirus|Pharyngo Conjunctival Fever|Pharyngo-Conjunctival Fever
D000257||Adenoviridae Infections|Adenoviridae Infection|Adenovirus Infection|Adenovirus Infections|Infection, Adenoviridae|Infection, Adenovirus|Infections, Adenoviridae|Infections, Adenovirus
312550||RETINAL DYSPLASIA, PRIMARY|PRD
D014899||Wernicke Encephalopathy|Beriberi, Cerebral|Cerebral Beriberi|Encephalopathies, Wernicke|Encephalopathy, Gayet Wernicke|Encephalopathy, Gayet-Wernicke|Encephalopathy, Wernicke|Encephalopathy, Wernickes|Encephalopathy, Wernicke&apos;s|Gayet Wernicke Encephalopathy|Gayet-Wernicke Encephalopathy|Wernicke Disease|Wernicke Encephalopathies|Wernicke Polioencephalitis, Superior Hemorrhagic|Wernicke&apos;s Disease|Wernicke&apos;s Encephalopathy|Wernicke&apos;s Polioencephalitis, Superior Hemorrhagic|Wernicke&apos;s Superior Hemorrhagic Polioencephalitis|Wernicke&apos;s Syndrome|Wernicke Superior Hemorrhagic Polioencephalitis|Wernicke Syndrome
246560||SPLIT-HAND/FOOT MALFORMATION 3|CHROMOSOME 10q24 DUPLICATION SYNDROME|LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA|SHFM3|SHSF3
D013568||Pathological Conditions, Signs and Symptoms|Symptoms and General Pathology
C536664|266510||Peroxisome biogenesis disorders|PBD3B|PEROXISOME BIOGENESIS DISORDER 3B
D014895||Weil Disease|Disease, Weil|Disease, Weil&apos;s|Icterohemorrhagic Leptospirosis|Jaundice, Spirochetal|Leptospirosis, Icterohemorrhagic|Spirochetal Jaundice|Weil&apos;s Disease|Weils Disease
D001478|109400||Basal Cell Nevus Syndrome|BCNS|Fifth Phacomatoses|Fifth Phacomatosis|Gorlin Goltz Syndrome|Gorlin-Goltz Syndrome|Gorlin Syndrome|Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies|NBCCS|Nevoid Basal Cell Carcinoma Syndrome|Nevus Syndrome, Basal Cell|Syndrome, Gorlin|Syndrome, Gorlin-Goltz
D000224||Addison Disease|Addison&apos;s Disease|Addisons Disease|Adrenal Insufficiency, Primary|Adrenocortical Insufficiencies, Primary|Adrenocortical Insufficiency, Primary|Disease, Addison|Hypoadrenalism, Primary|Hypoadrenalisms, Primary|Insufficiencies, Primary Adrenocortical|Insufficiency, Primary Adrenocortical|Primary Adrenal Insufficiency|Primary Adrenocortical Insufficiencies|Primary Adrenocortical Insufficiency|Primary Hypoadrenalism
400004|C564035||Retinitis Pigmentosa, Y-Linked|RPY
117000|D020512||Myopathy, Central Core|CCD|CCO MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED|Central Core Disease|Central Core Disease of Muscle|Central Core Diseases|Central Core Myopathies|Central Core Myopathy|CNMDU1, INCLUDED|MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED|MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED|Myopathies, Central Core|NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED|Shy Magee Syndrome|Shy-Magee Syndrome|Syndrome, Shy-Magee
162000||HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1|FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY|FJHN|GOUTY NEPHROPATHY, FAMILIAL JUVENILE|HNFJ|HNFJ1|HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE|NEPHROPATHY, FAMILIAL, WITH GOUT
C567809|613027||Glycogen Storage Disease IXC|GSD9C|GSD IXC
D012206||Rhabdomyolysis|Rhabdomyolyses
D012203||Rh Isoimmunization|Isoimmunization, Rh|Isoimmunization, Rhesus|Isoimmunizations, Rh|Isoimmunizations, Rhesus|Rhesus Isoimmunization|Rhesus Isoimmunizations|Rh Isoimmunizations|Rh Sensitization|Rh Sensitizations|Sensitization, Rh|Sensitizations, Rh
D012207||Rhabdomyoma|Rhabdomyomas
D014869||Water Intoxication
C536458|177820||Von Willebrand disease, platelet type|BDPLT3|BLEEDING DISORDER, PLATELET-TYPE, 3|Platelet-type Von Willebrand disease|Pseudo-Von Willebrand disease|Von Willebrand Disease, Platelet-Type|VWDP
D012208||Rhabdomyosarcoma|Rhabdomyosarcomas
D014860||Warts|Verruca|Verrucas|Wart
D050488||Hallux Varus|Varus, Hallux
C566936|611465||Gallbladder Disease 4|GBD4
D012202||Reye Syndrome|Adult Reye&apos;s Syndrome|Adult Reye Syndrome|Fatty Liver with Encephalopathy|Reye Johnson Syndrome|Reye-Johnson Syndrome|Reye Like Syndrome|Reye-Like Syndrome|Reye&apos;s Like Syndrome|Reye&apos;s-Like Syndrome|Reye&apos;s Syndrome|Reye&apos;s Syndrome, Adult|Reye Syndrome, Adult
D013530||Surgical Wound Infection|Infection, Postoperative Wound|Infections, Postoperative Wound|Infections, Surgical Wound|Infection, Surgical Wound|Postoperative Wound Infection|Postoperative Wound Infections|Surgical Wound Infections|Wound Infection, Postoperative|Wound Infections, Postoperative|Wound Infections, Surgical|Wound Infection, Surgical
D050489||Bunion, Tailor&apos;s|Bunionette|Bunionettes|Bunions, Tailor&apos;s|Bunion, Tailors|Tailor&apos;s Bunion|Tailors Bunion|Tailor&apos;s Bunions
D000238||Adenoma, Chromophobe|Adenomas, Chromophobe|Chromophobe Adenoma|Chromophobe Adenomas
D000237||Adenoma, Basophil|Adenoma, Basophilic|Adenomas, Basophil|Adenomas, Basophilic|Basophil Adenoma|Basophil Adenomas|Basophilic Adenoma|Basophilic Adenomas
D000236||Adenoma|Adenoma, Basal Cell|Adenoma, Follicular|Adenoma, Microcystic|Adenoma, Monomorphic|Adenoma, Papillary|Adenomas|Adenomas, Basal Cell|Adenomas, Follicular|Adenomas, Microcystic|Adenomas, Monomorphic|Adenomas, Papillary|Adenomas, Trabecular|Adenoma, Trabecular|Basal Cell Adenoma|Basal Cell Adenomas|Follicular Adenoma|Follicular Adenomas|Microcystic Adenoma|Microcystic Adenomas|Monomorphic Adenoma|Monomorphic Adenomas|Papillary Adenoma|Papillary Adenomas|Trabecular Adenoma|Trabecular Adenomas
D000235||Adenolymphoma|Adenolymphomas|Cystadenoma Lymphomatosum, Papillary|Papillary Cystadenoma Lymphomatosum|Tumor, Warthin|Warthin Tumor
607432|D054082||Lissencephaly|Agyria|Agyrias|Broad Gyri of Cerebrum|ILS|Large Gyri of Cerebrum|LIS1|Lissencephalia|Lissencephalias|Lissencephalies|LISSENCEPHALY 1|LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED|LISSENCEPHALY SEQUENCE, ISOLATED|Macrogyria|Pachygyria|Pachygyrias|SBH, INCLUDED|SCLH, INCLUDED|SUBCORTICAL BAND HETEROTOPIA, INCLUDED
C565748|604801||Muscular Dystrophy, Congenital, 1B|MDC1B
D000239||Adenoma, Acidophil|Acidophil Adenoma|Acidophil Adenomas|Acidophilic Adenoma|Acidophilic Adenomas|Adenoma, Acidophilic|Adenoma, Eosinophil|Adenoma, Eosinophilic|Adenomas, Acidophil|Adenomas, Acidophilic|Adenomas, Eosinophil|Adenomas, Eosinophilic|Eosinophil Adenoma|Eosinophil Adenomas|Eosinophilic Adenoma|Eosinophilic Adenomas
300672|C564064||Epileptic Encephalopathy, Early Infantile, 2|EIEE2|Infantile Spasm Syndrome, X-Linked 2|ISSX2|Rett Syndrome, Atypical, Cdkl5-Related|Rett Syndrome, Variant, With Infantile Spasms
D000230||Adenocarcinoma|Adenocarcinoma, Basal Cell|Adenocarcinoma, Granular Cell|Adenocarcinoma, Oxyphilic|Adenocarcinomas|Adenocarcinomas, Basal Cell|Adenocarcinomas, Granular Cell|Adenocarcinomas, Oxyphilic|Adenocarcinomas, Tubular|Adenocarcinoma, Tubular|Adenoma, Malignant|Adenomas, Malignant|Basal Cell Adenocarcinoma|Basal Cell Adenocarcinomas|Carcinoma, Cribriform|Carcinoma, Granular Cell|Carcinomas, Cribriform|Carcinomas, Granular Cell|Carcinomas, Tubular|Carcinoma, Tubular|Cribriform Carcinoma|Cribriform Carcinomas|Granular Cell Adenocarcinoma|Granular Cell Adenocarcinomas|Granular Cell Carcinoma|Granular Cell Carcinomas|Malignant Adenoma|Malignant Adenomas|Oxyphilic Adenocarcinoma|Oxyphilic Adenocarcinomas|Tubular Adenocarcinoma|Tubular Adenocarcinomas|Tubular Carcinoma|Tubular Carcinomas
145980|C537145||Hypocalciuric hypercalcemia, familial, type 1|Familial Benign Hypercalcemia 1|Familial benign hypercalcemia type 1|Familial hypocalciuric hypercalcemia|FBH1|FHH1|HHC1|Hypercalcemia, Familial Benign|HYPERCALCEMIA, FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA, ACQUIRED, INCLUDED|Hypercalcemia, familial benign type 1|Hypocalciuric Hypercalcemia, Familial, Type I
D000232||Adenofibroma|Adenofibromas|Fibroadenosis
D000231||Adenocarcinoma, Papillary|Adenocarcinomas, Papillary|Papillary Adenocarcinoma|Papillary Adenocarcinomas
D012216||Rheumatic Diseases|Disease, Rheumatic|Diseases, Rheumatic|Enthesopathies|Enthesopathy|Rheumatic Disease|Rheumatism
D013547||Sweating, Gustatory|Auriculotemporal Nerve Syndrome|Auriculotemporal Syndrome|Baillarger Syndrome|Frey&apos;s Syndrome|Frey Syndrome|Gustatory Hyperhidroses|Gustatory Hyperhidrosis|Gustatory Sweating|Hyperhidroses, Gustatory|Hyperhidrosis, Gustatory|Salivosudoriparous Syndrome|Salivosudoriparous Syndromes|Syndrome, Auriculotemporal|Syndrome, Baillarger|Syndrome, Frey|Syndrome, Frey&apos;s|Syndrome, Salivosudoriparous|Syndromes, Salivosudoriparous|Syndrome, von Frey|Syndrome, von Frey&apos;s|von Frey&apos;s Syndrome|von Freys Syndrome|von Frey Syndrome
D012214||Rheumatic Heart Disease|Bouillaud Disease|Bouillaud&apos;s Disease|Bouillauds Disease|Disease, Bouillaud|Disease, Bouillaud&apos;s|Disease, Rheumatic Heart|Diseases, Rheumatic Heart|Heart Disease, Rheumatic|Heart Diseases, Rheumatic|Rheumatic Heart Diseases
D045908||Monkeypox|Monkey Pox
D012215||Rheumatic Nodule|Aschoff Bodies|Bodies, Aschoff|Nodule, Rheumatic|Nodules, Rheumatic|Rheumatic Nodules
D012218||Rheumatoid Nodule|Nodule, Rheumatoid|Nodules, Rheumatoid|Rheumatoid Nodules|Rheumatoid Noduloses|Rheumatoid Nodulosis
D013540||Swayback|Ataxia, Enzootic|Ataxias, Enzootic|Enzootic Ataxia|Enzootic Ataxias
D013543||Sweat Gland Diseases|Diseases, Sweat Gland|Disease, Sweat Gland|Sweat Gland Disease
D012213||Rheumatic Fever|Acute Articular Rheumatism|Acute Articular Rheumatisms|Acute Rheumatic Arthritides|Acute Rheumatic Arthritis|Acute Rheumatic Fever|Acute Rheumatic Fevers|Arthritides, Acute Rheumatic|Arthritis, Acute Rheumatic|Arthritis, Rheumatic, Acute|Articular Rheumatism, Acute|Articular Rheumatisms, Acute|Fever, Acute Rheumatic|Fever, Rheumatic|Fevers, Acute Rheumatic|Fevers, Rheumatic|Inflammatory Rheumatism|Polyarthritis Rheumatica|Polyarthritis Rheumaticas|Rheumatic Arthritides, Acute|Rheumatic Arthritis|Rheumatic Arthritis, Acute|Rheumatic Fever, Acute|Rheumatic Fevers|Rheumatic Fevers, Acute|Rheumatism, Acute Articular|Rheumatism, Articular, Acute|Rheumatisms, Acute Articular
D013544||Sweat Gland Neoplasms|Neoplasms, Sweat Gland|Neoplasm, Sweat Gland|Sweat Gland Neoplasm
C563582|156850||Microphthalmia, Isolated, with Cataract 1|Cataract, Congenital with Microphthalmia|CATARACT, CONGENITAL, WITH MICROPHTHALMIA|CATM|MCOPCT1
C537484|604805||Spastic paraplegia 12, autosomal dominant|SPG12
C564249|608380||Retinitis Pigmentosa 26|RP26
D002869||Chromosome Aberrations|Aberration, Chromosomal|Aberration, Chromosome|Aberration, Cytogenetic|Aberrations, Chromosomal|Aberrations, Chromosome|Aberrations, Cytogenetic|Abnormalities, Autosome|Abnormalities, Chromosomal|Abnormalities, Chromosome|Abnormalities, Cytogenetic|Abnormality, Autosome|Abnormality, Chromosomal|Abnormality, Chromosome|Abnormality, Cytogenetic|Autosome Abnormalities|Autosome Abnormality|Chromosomal Aberration|Chromosomal Aberrations|Chromosomal Abnormalities|Chromosomal Abnormality|Chromosome Aberration|Chromosome Abnormalities|Chromosome Abnormality|Cytogenetic Aberration|Cytogenetic Aberrations|Cytogenetic Abnormalities|Cytogenetic Abnormality
150230|D015826||Langer-Giedion Syndrome|Acrodysplasia V|Acrodysplasia Vs|CHROMOSOME 8q24.1 DELETION SYNDROME|Giedion Langer Syndrome|Giedion-Langer Syndrome|Langer Giedion Syndrome|LANGER-GIEDION SYNDROME|LGS|Syndrome, Giedion-Langer|Syndrome, Langer-Giedion|Trichorhinophalangeal Syndrome Type 2|Trichorhinophalangeal Syndrome Type II|Trichorhinophalangeal Syndrome, Type II|Tricho Rhino Phalangeal Syndrome Type II|Tricho-Rhino-Phalangeal Syndrome Type II|Trichorhinophalangeal Syndrome with Exostoses|TRPS2|TRPSII
C537300|175700||Greig cephalopolysyndactyly syndrome|Cephalopolysyndactyly Syndrome|GCPS|Greig Cephalopolysyndactyly (Gcps) Syndrome|Greig syndrome|Polysyndactyly with peculiar skull shape
D000208||Acute Disease|Acute Diseases|Disease, Acute|Diseases, Acute
D012514|148000||Sarcoma, Kaposi|Kaposi Sarcoma|KAPOSI SARCOMA, SUSCEPTIBILITY TO|Kaposi&apos;s Sarcoma|Kaposis Sarcoma|MCD, INCLUDED|Multiple Idiopathic Pigmented Hemangiosarcoma|MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO, INCLUDED|Sarcoma, Kaposi&apos;s
613451||FRONTONASAL DYSPLASIA 2|FND2
613453||DEAFNESS, AUTOSOMAL RECESSIVE 91|DFNB91
D002862||Chromoblastomycosis|Chromoblastomycoses|Chromomycoses|Chromomycosis|Dermatitis Verrucosa
C537357|236250||Methylenetetrahydrofolate reductase deficiency|HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY|METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY|MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED
613454||RETT SYNDROME, CONGENITAL VARIANT
613456||FRONTONASAL DYSPLASIA 3|FND3
D014846||Vulvar Neoplasms|Cancer of the Vulva|Cancer of Vulva|Cancers, Vulva|Cancers, Vulvar|Cancer, Vulva|Cancer, Vulvar|Neoplasms, Vulva|Neoplasms, Vulvar|Neoplasm, Vulva|Neoplasm, Vulvar|Vulva Cancer|Vulva Cancers|Vulva Neoplasm|Vulva Neoplasms|Vulvar Cancer|Vulvar Cancers|Vulvar Neoplasm
D014845||Vulvar Diseases|Diseases, Vulvar|Disease, Vulvar|Vulvar Disease
612126||GLUT1 DEFICIENCY SYNDROME 2|DYSTONIA 18|DYT18|GLUT1DS2|PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA|PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA|PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA
146850||IMMUNE SUPPRESSION|IS|ISCW|ISSCW|STREPTOCOCCAL CELL WALL ANTIGEN, SUPPRESSION OF IMMUNE RESPONSE TO
D014843||Voyeurism|Voyeurisms
612124||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12|CMH12
D014848||Vulvovaginitis|Vulvovaginitides
D030401|220110||Cytochrome-c Oxidase Deficiency|Complex IV Deficiencies|Complex IV Deficiency|Cox Deficiencies|Cox Deficiency|Cytochrome-c Oxidase Deficiencies|Cytochrome C Oxidase Deficiency|Cytochrome Oxidase Deficiencies|Cytochrome Oxidase Deficiency|Deficiencies, Complex IV|Deficiencies, Cox|Deficiencies, Cytochrome-c Oxidase|Deficiencies, Cytochrome Oxidase|Deficiency, Complex IV|Deficiency, Cox|Deficiency, Cytochrome c Oxidase|Deficiency, Cytochrome-c Oxidase|Deficiency, Cytochrome Oxidase|Mitochondrial Complex IV Deficiency|Oxidase Deficiencies, Cytochrome|Oxidase Deficiencies, Cytochrome-c|Oxidase Deficiency, Cytochrome|Oxidase Deficiency, Cytochrome-c
D014847||Vulvitis|Vulvitides
C566158|116200||Cataract, Zonular Pulverulent 1|CAE1|CATARACT 1, MULTIPLE TYPES|CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|Cataract, Duffy-Linked|CATARACT, ZONULAR PULVERULENT, 1|CTRCT1|CZP|CZP1|Pulverulent Zonular Cataract
D014842||von Willebrand Diseases|Angiohemophilia|Angiohemophilias|Disorder, Von Willebrand|Hemophilia, Vascular|Pseudohemophilias, Vascular|Pseudohemophilia, Vascular|Vascular Hemophilia|Vascular Hemophilias|Vascular Pseudohemophilia|Vascular Pseudohemophilias|von Willebrand Disease|von Willebrand Disease, Recessive Form|Von Willebrand Disorder|von Willebrand&apos;s Disease|von Willebrand&apos;s Diseases|Von Willebrand&apos;s Factor Deficiency
D014840||Vomiting, Anticipatory|Anticipatory Vomiting
C566435|610539||Gaucher Disease, Atypical, Due To Saposin C Deficiency
C537172|168400||Parastremmatic dwarfism|Parastremmatic dysplasia
D000219||Adams-Stokes Syndrome|Adams Stokes Syndrome|Adam Stokes Attacks|Adam-Stokes Attacks|Attacks, Adam-Stokes|Attacks, Stokes-Adams|Stokes Adams Attacks|Stokes-Adams Attacks|Stokes Adams Syndrome|Stokes-Adams Syndrome|Syndrome, Adams-Stokes|Syndrome, Stokes-Adams
151660|D052496||Lipodystrophy, Familial Partial|Dunnigan Syndrome|Familial Partial Lipodystrophies|Familial Partial Lipodystrophy|Familial Partial Lipodystrophy, Kobberling Type|Familial Partial Lipodystrophy, Type 1|Familial Partial Lipodystrophy, Type 2|Familial Partial Lipodystrophy, Type 3|FPL2|FPLD2|FPLD3|Koberling Dunnigan Syndrome|Koberling-Dunnigan Syndrome|LIPOATROPHIC DIABETES|Lipodystrophies, Familial Partial|Lipodystrophies, Reverse Partial|Lipodystrophy, Familial, of Limbs and Lower Trunk|Lipodystrophy, Familial Partial, Associated With PPARg Mutations|Lipodystrophy, Familial Partial, Dunnigan Type|Lipodystrophy, Familial Partial, Kobberling Type|Lipodystrophy, Familial Partial, Type 1|Lipodystrophy, Familial Partial, Type 2|Lipodystrophy, Familial Partial, Type 3|Lipodystrophy, Reverse Partial|Partial Lipodystrophies, Familial|Partial Lipodystrophies, Reverse|Partial Lipodystrophy, Familial|Partial Lipodystrophy, Reverse|Reverse Partial Lipodystrophies|Reverse Partial Lipodystrophy|Syndrome, Dunnigan
C537757|220150||Renal hypouricemia|Dalmatian hypouricemia|Hypouricemia, renal|Hypouricemia, Renal, 1|RENAL HYPOURICEMIA|RHUC1
D019896|613490||alpha 1-Antitrypsin Deficiency|alpha 1-Antitrypsin Deficiencies|alpha 1 Antitrypsin Deficiency|ALPHA-1-ANTITRYPSIN DEFICIENCY|Deficiencies, alpha 1-Antitrypsin|Deficiency, alpha 1-Antitrypsin
D002872||Chromosome Deletion|Deletion, Chromosome|Deletions, Chromosome|Monosomies, Partial|Monosomy, Partial|Partial Monosomies|Partial Monosomy
D002873||Chromosome Fragility|Chromosomal Fragility|Fragility, Chromosomal|Fragility, Chromosome
613443||MENTAL RETARDATION, AUTOSOMAL DOMINANT 20|MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, INCLUDED|MRD20
D000210||Acute-Phase Reaction|Acute Phase Reaction|Acute-Phase Response|Acute Phase State|Acute-Phase State|Reaction, Acute Phase|Reaction, Acute-Phase|Response, Acute Phase|Response, Acute-Phase|State, Acute-Phase
C562429|174200||Polydactyly, Postaxial|PAPA|PAPA1|PAPB, INCLUDED|POLYDACTYLY, POSTAXIAL POSTAXIAL POLYDACTYLY, TYPE B, INCLUDED|Polydactyly, Postaxial, Type A1|Postaxial Polydactyly, Type A|Postaxial Polydactyly, Type B
C537380|610017||Multiple synostoses syndrome 2|SYNS2
C566619|601813||Exudative Vitreoretinopathy 4|Evr4
C567853|603513||Cerebral Palsy, Spastic Quadriplegic, 1|CPSQ1
D014855||Wallerian Degeneration|Degeneration, Wallerian
C566438|610127||Ceroid Lipofuscinosis, Neuronal, 10|Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient|CLN10|Neuronal Ceroid Lipofuscinosis, Congenital|Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency|NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED
D014854||Lateral Medullary Syndrome|Dorsolateral Medullary Syndrome|Lateral Bulbar Syndrome|Lateral Medullary Syndromes|Medullary Syndrome, Dorsolateral|Posterior Inferior Cerebellar Artery Syndrome|Syndromes, Lateral Medullary|Syndrome, Vieseaux-Wallenberg|Syndrome, Wallenberg|Vieseaux Wallenberg Syndrome|Vieseaux-Wallenberg Syndrome|Wallenberg&apos;s Syndrome|Wallenbergs Syndrome|Wallenberg Syndrome
D013529||Surgical Wound Dehiscence|Dehiscence, Surgical Wound|Wound Dehiscence, Surgical
604060|C565828||Deafness, Autosomal Recessive 20|DFNB20
C563843|608874||Orofacial Cleft 5|Cleft Lip with or without Cleft Palate, Nonsyndromic, 5|OFC5
C535942|602082||Corneal dystrophy, Thiel-Behnke type|CDB2|CDTB|Corneal dystrophy honeycomb-shaped|Corneal Dystrophy, Honeycomb-Shaped|Corneal Dystrophy Of Bowman Layer, Type II|Corneal dystrophy of the Bowman layer, type 2|CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE|TBCD|Thiel-Behnke corneal dystrophy
C537251|608898||Hemophagocytic lymphohistiocytosis, familial, 3|FHL3|HLH3|HPLH3
253700|C535900||Limb-girdle muscular dystrophy, type 2C|Adhalin deficiency, secondary|DMDA|DMDA1|Duchenne-like muscular dystrophy, autosomal recessive, type 1|Gamma-sarcoglycanopathy|LGMD2C|Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|Maghrebian myopathy|Muscular dystrophy, Duchenne-like|Muscular Dystrophy, Limb-Girdle, Type 2C|SARCOGLYCAN, GAMMA, DEFICIENCY OF|SCARMD|Severe childhood autosomal recessive muscular dystrophy, North African type
C563323|601407||Diabetes Mellitus, Noninsulin-Dependent, 2|NIDDM2|Noninsulin-Dependent Diabetes Mellitus 2
C567468|300718||Myopathy, Reducing Body, X-Linked, Childhood-Onset
613435||AMYOTROPHIC LATERAL SCLEROSIS 12|ALS12
D014823||Vitreous Hemorrhage|Hemorrhage, Vitreous|Vitreous Hemorrhages
613428||RETINITIS PIGMENTOSA 54|RP54
C567737|613116||Thrombophilia Due To Elevated Histidine-Rich Glycoprotein|THPH11|THROMBOPHILIA DUE TO ELEVATED HISTIDINE-RICH GLYCOPROTEIN, INCLUDED|Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency
D014826||Vocal Cord Paralysis|Acquired Vocal Cord Palsy|Bilateral Vocal Cord Paresis|Congenital Vocal Cord Palsy|Laryngeal Nerve Palsy, Recurrent|Laryngeal Paralyses|Laryngeal Paralysis|Palsies, Vocal Cord|Palsies, Vocal Fold|Palsy, Vocal Cord|Palsy, Vocal Fold|Paralyses, Laryngeal|Paralyses, Vocal Cord|Paralysis, Laryngeal|Paralysis, Unilateral, Vocal Cord|Paralysis, Vocal Cord|Paralysis, Vocal Cord, Unilateral|Pareses, Vocal Cord|Paresis, Vocal Cord|Partial Paralysis (Paresis) Vocal Cords|Recurrent Laryngeal Nerve Palsy|Total Vocal Cord Paralysis|Unilateral Paralysis, Vocal Cord|Unilateral Vocal Cord Paralysis|Unilateral Vocal Cord Paresis|Vocal Cord Palsies|Vocal Cord Palsy|Vocal Cord Palsy, Congenital|Vocal Cord Paralyses|Vocal Cord Paralysis, Unilateral|Vocal Cord Pareses|Vocal Cord Paresis|Vocal Fold Palsies|Vocal Fold Palsy
612577|C567244||Amyotrophic Lateral Sclerosis 11|ALS11
C562551|127600||Dyskeratosis, Hereditary Benign Intraepithelial|DKBI|HBID
D014820||Vitiligo
C535729|127400||Dyschromatosis symmetrica hereditaria 1|DSH|DSH1|Dyschromatosis symmetrica hereditaria|DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1|Familial reticulate acropigmentation of Dohi|RAD|Reticulate acropigmentation of Dohi|Symmetric dyschromatosis of the extremities
D057910||Implant Capsular Contracture|Capsular Contracture, Implant|Contracture, Implant Capsular
C536937|181450||Ulnar-mammary syndrome|PALLISTER ULNAR-MAMMARY SYNDROME|Schinzel syndrome|Ulnar-mammary syndrome of Pallister|UMS
D001523||Mental Disorders|Behavior Disorders|Diagnosis, Psychiatric|Disorder, Mental|Disorders, Behavior|Disorders, Mental|Mental Disorder|Psychiatric Diagnosis
C536169|112250||Diaphyseal medullary stenosis with malignant fibrous histiocytoma|BDMF|Bone dysplasia with malignant fibrous histiocytoma|Bone dysplasia with medullary fibrosarcoma|DMSMFH|MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
C564953|256730||Ceroid Lipofuscinosis, Neuronal, 1|Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset|CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED|CLN1|INCL, INCLUDED|SANTAVUORI DISEASE, INCLUDED|SANTAVUORI-HALTIA DISEASE, INCLUDED
119600|D002973||Cleidocranial Dysplasia|CCD|Cleidocranial Digital Dysostoses|Cleidocranial Digital Dysostosis|Cleidocranial Dysostoses|Cleidocranial Dysostosis|CLEIDOCRANIAL DYSOSTOSIS;CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED|CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED|Cleidocranial Dysplasias|Dysostoses, Cleidocranial|Dysostoses, Cleidocranial Digital|Dysostosis, Cleidocranial|Dysostosis, Cleidocranial Digital|Dysplasia, Cleidocranial|Dysplasias, Cleidocranial|Marie Sainton Syndrome|Marie-Sainton Syndrome|Scheuthauer Marie Sainton Syndrome|Scheuthauer-Marie-Sainton Syndrome|Syndrome, Marie-Sainton|Syndrome, Scheuthauer-Marie-Sainton
C563827|608932||Keratoconus 2|KTCN2
C566482|610042||Cortical Dysplasia-Focal Epilepsy Syndrome|CDFE SYNDROME PITT-HOPKINS-LIKE SYNDROME 1, INCLUDED|PTHSL1, INCLUDED
D014832||Voice Disorders|Disturbances, Voice|Disturbance, Voice|Fatigues, Voice|Fatigue, Voice|Neurologic Voice Disorder|Neurologic Voice Disorders|Voice Disorder|Voice Disorder, Neurologic|Voice Disorders, Neurologic|Voice Disturbance|Voice Disturbances|Voice Fatigue|Voice Fatigues
613418||BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15|BMND15|COMPRESSION FRACTURE, SUSCEPTIBILITY TO|METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO|OSTEOPOROSIS, SUSCEPTIBILITY TO
D014839||Vomiting|Emesis
C563866|608751||Cardiomyopathy, Familial Hypertrophic, 8|Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1|CMH8
D016649|311360||Primary Ovarian Insufficiency|FMR1 Related Primary Ovarian Insufficiency|FMR1-Related Primary Ovarian Insufficiency|Fragile X Associated Primary Ovarian Insufficiency|Fragile X-Associated Primary Ovarian Insufficiency|Gonadotropin Resistant Ovary Syndrome|Gonadotropin-Resistant Ovary Syndrome|Hypergonadotropic Ovarian Failure, X Linked|Hypergonadotropic Ovarian Failure, X-Linked|Insufficiency, Primary Ovarian|Ovarian Failure, Premature|Ovarian Insufficiency, Primary|POF|POF1|POFX|Premature Ovarian Failure|Premature Ovarian Failure 1|Premature Ovarian Failure, X Linked|Premature Ovarian Failure, X-Linked|Resistant Ovary Syndrome|X Linked Hypergonadotropic Ovarian Failure|X-Linked Hypergonadotropic Ovarian Failure
607541|C535474||Corneal dystrophy Avellino type|ACD|Avellino corneal dystrophy|CDA|CGD2|Combined granular-lattice corneal dystrophies|Combined Granular-Lattice Corneal Dystrophy|Corneal Dystrophy, Avellino Type|Granular and lattice corneal dystrophies|Granular corneal dystrophy type 2|Granular Corneal Dystrophy, Type Ii|Granular-lattice (Avellino) corneal dystrophy
D057925||Femoracetabular Impingement|Femoracetabular Impingements|Femoroacetabular Impingement|Femoro Acetabular Impingement|Femoro-Acetabular Impingement|Femoroacetabular Impingements|Femoro-Acetabular Impingements|Femoroacetabular Impingement Syndrome|Femoroacetabular Impingement Syndromes|Impingement, Femoracetabular|Impingement, Femoroacetabular|Impingement, Femoro-Acetabular|Impingements, Femoracetabular|Impingements, Femoroacetabular|Impingements, Femoro-Acetabular|Impingement Syndrome, Femoroacetabular|Impingement Syndromes, Femoroacetabular|Syndrome, Femoroacetabular Impingement|Syndromes, Femoroacetabular Impingement
D017086||beta-Thalassemia|Anemia, Cooley|Anemia, Cooleys|Anemia, Cooley&apos;s|Anemia, Erythroblastic|Anemia, Mediterranean|Anemias, Erythroblastic|Anemias, Mediterranean|beta Thalassemia|beta Thalassemias|beta Type Microcytemia|beta Type Microcytemias|beta Type Thalassemia|beta Type Thalassemias|Cooley&apos;s Anemia|Disease, Hemoglobin F|Erythroblastic Anemia|Hemoglobin F Disease|Intermedias, Thalassemia|Intermedia, Thalassemia|Majors, Thalassemia (beta-Thalassemia Major)|Major, Thalassemia (beta-Thalassemia Major)|Mediterranean Anemia|Mediterranean Anemias|Microcytemia, beta Type|Microcytemias, beta Type|Minors, Thalassemia (beta-Thalassemia Minor)|Minor, Thalassemia (beta-Thalassemia Minor)|Thalassemia, beta|Thalassemia, beta Type|Thalassemia Intermedia|Thalassemia Intermedias|Thalassemia Major|Thalassemia Major (beta Thalassemia Major)|Thalassemia Major (beta-Thalassemia Major)|Thalassemia Majors (beta-Thalassemia Major)|Thalassemia Minor|Thalassemia Minor (beta Thalassemia Minor)|Thalassemia Minor (beta-Thalassemia Minor)|Thalassemia Minors (beta-Thalassemia Minor)|Thalassemias, beta|Thalassemias, beta Type|Type Microcytemia, beta|Type Microcytemias, beta|Type Thalassemia, beta|Type Thalassemias, beta
D002825||Chorioretinitis|Chorioretinitides
D017088||AIDS-Related Opportunistic Infections|AIDS-Related Opportunistic Infection|AIDS Related Opportunistic Infections|HIV-Related Opportunistic Infection|HIV Related Opportunistic Infections|HIV-Related Opportunistic Infections|Infection, HIV-Related Opportunistic|Infections, HIV-Related Opportunistic|Opportunistic Infection, AIDS-Related|Opportunistic Infection, HIV-Related|Opportunistic Infections, AIDS Related|Opportunistic Infections, AIDS-Related|Opportunistic Infections, HIV Related|Opportunistic Infections, HIV-Related
D002820||Hydatidiform Mole, Invasive|Chorioadenoma|Chorioadenomas|Hydatidiform Moles, Invasive|Invasive Hydatidiform Mole|Invasive Hydatidiform Moles|Invasive Mole|Invasive Moles|Mole, Invasive|Mole, Invasive Hydatidiform|Moles, Invasive|Moles, Invasive Hydatidiform
C563754|609266||Li-Fraumeni Syndrome 3|LFS3
D002821||Chorioamnionitis|Amnionitides|Amnionitis|Chorioamnionitides|Funisitides|Funisitis
D002822||Choriocarcinoma|Choriocarcinomas
C567856|612938||Growth Retardation, Developmental Delay, Coarse Facies, And Early Death|GDFD
D014808||Vitamin D Deficiency|Deficiencies, Vitamin D|Deficiency, Vitamin D|Vitamin D Deficiencies
277440|C562794||Vitamin D-Dependent Rickets, Type 2A|GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D|HVDRR|HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS|PDDR IIA|Pseudovitamin D-Deficiency, Type IIA|Rickets-Alopecia Syndrome|RICKETS, HEREDITARY VITAMIN D-RESISTANT|VDDR2A|VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA|VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
D014802||Vitamin A Deficiency|Deficiencies, Vitamin A|Deficiency, Vitamin A|Vitamin A Deficiencies
D014806||Vitamin B 12 Deficiency|Deficiencies, Vitamin B12|Deficiency, Vitamin B12|Deficiency, Vitamin B 12|Vitamin B12 Deficiencies|Vitamin B12 Deficiency
D014804||Vitamin B Deficiency|Deficiencies, Vitamin B|Deficiency, Vitamin B|Vitamin B Deficiencies
D002828||Choristoma|Aberrant Tissue|Aberrant Tissues|Choristomas|Ectopic Tissue|Ectopic Tissues|Heterotopic Tissue|Heterotopic Tissues|Tissue, Aberrant|Tissue, Ectopic|Tissue, Heterotopic|Tissues, Aberrant|Tissues, Ectopic|Tissues, Heterotopic
D017098||IgA Deficiency|Deficiencies, IgA|Deficiency, IgA|IgA Deficiencies
D017099||IgG Deficiency|Deficiencies, IgG|Deficiency, IgG|IgG Deficiencies
C537884|604229||Peters anomaly
601419||MYOPATHY, MYOFIBRILLAR, 1|ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY|ARVC7, FORMERLY|ARVD7, FORMERLY|CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY|CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY|CDCD3, FORMERLY|CMD1F AND LGMD1D, FORMERLY|DESMINOPATHY, PRIMARY|DESMIN-RELATED MYOPATHY|DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY|DRM|IBM1, FORMERLY|INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY|MFM1|MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY|MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
D017093||Liver Failure|Hepatic Failure
D017094||Porphyrias, Hepatic|Hepatic Porphyria|Hepatic Porphyrias|Porphyria, Hepatic
D002832||Choroid Hemorrhage|Choroidal Hemorrhage|Choroidal Hemorrhages|Hemorrhage, Choroid|Hemorrhage, Choroidal
D002833||Choroiditis|Choroiditides
D017096||Prion Diseases|Dementias, Transmissible|Dementia, Transmissible|Disorder, Prion-Induced|Disorders, Prion-Induced|Encephalopathies, Spongiform, Transmissible|Encephalopathies, Transmissible Spongiform|Encephalopathy, Transmissible Spongiform|Human Transmissible Spongiform Encephalopathies, Inherited|Inherited Human Transmissible Spongiform Encephalopathies|Prion-Associated Disorders|Prion Disease|Prion Induced Disorder|Prion-Induced Disorder|Prion-Induced Disorders|Prion Protein Disease|Prion Protein Diseases|Spongiform Encephalopathies, Transmissible|Spongiform Encephalopathy, Transmissible|Transmissible Dementia|Transmissible Dementias|Transmissible Spongiform Encephalopathies|Transmissible Spongiform Encephalopathy
D017091||Colitis, Ischemic|Ischemic Colitis
D002830||Choroid Neoplasms|Choroidal Neoplasm|Choroidal Neoplasms|Choroid Neoplasm|Neoplasm, Choroid|Neoplasm, Choroidal|Neoplasms, Choroid|Neoplasms, Choroidal
C567426|612076||Hypouricemia, Renal, 2|GOUT2, INCLUDED|GOUT SUSCEPTIBILITY 2, INCLUDED|RHUC2|UAQTL2, INCLUDED|URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2, INCLUDED
C567233|612622||Diabetes Mellitus, Insulin-Dependent, 23|IDDM23
C565776|604400||Arrhythmogenic Right Ventricular Dysplasia, Familial, 5|Arrhythmogenic Right Ventricular Cardiomyopathy 5|ARVC5|ARVD5
613402||EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10|EIEE10|MCSZ|MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
C562937|146000||Hypochondroplasia|HCH|Hypochondrodysplasia
146820||IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT|IGAT
D014813||Vitamin K Deficiency|Deficiencies, Vitamin K|Deficiency, Vitamin K|Vitamin K Deficiencies
D014811||Vitamin E Deficiency|Deficiencies, Vitamin E|Deficiency, Vitamin E|Vitamin E Deficiencies
C537202|608703||Spinocerebellar ataxia 25|SCA25|Spinocerebellar ataxia type 25
C537493|604841||Stickler syndrome, type 2|Stickler syndrome, beaded vitreous type|Stickler Syndrome, Type II|Stickler syndrome, vitreous type 2|STL2
D002804||Chondroblastoma|Chondroblastomas
D002805||Chondrocalcinosis|Calcium Pyrophosphate Dihydrate Deposition|Chondrocalcinoses|Pseudogout
C565322|605549||Cone-Rod Dystrophy 8|CORD8
C566383|603383||Glaucoma 1, Open Angle, F|GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET|GLC1F
270200|D016111||Sjogren-Larsson Syndrome|Congenital Icthyosis Mental Retardation Spasticity Syndrome|FALDH Deficiency|Fatty Alcohol:NAD+ Oxidoreductase Deficiency|Fatty Aldehyde Dehydrogenase Deficiency|Fatty Aldehyde Dehydrogenase Deficiency Disease|Ichthyosis Oligophrenia Syndrome|Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia|Sjogren Larsson Syndrome|Sj&#246;gren-Larsson Syndrome|SLS
C536119|607625||Niemann-Pick disease, type C2|NPC2
D005084||Exhibitionism|Exhibitionisms
305390||EXUDATIVE VITREORETINOPATHY 2, X-LINKED|EVR2|EVRX|EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2|FEVRX|FEVR, X-LINKED
C537833|153870||Macular dystrophy, concentric annular|BCAMD|MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR|Maculopathy, bull&apos;s eye|MCDCA
D056627||Peritoneal Fibrosis|Encapsulating Peritoneal Scleroses|Encapsulating Peritoneal Sclerosis|Fibroses, Peritoneal|Fibrosing Syndrome, Peritoneal|Fibrosing Syndromes, Peritoneal|Fibrosis, Peritoneal|Peritoneal Fibroses|Peritoneal Fibrosing Syndrome|Peritoneal Fibrosing Syndromes|Peritoneal Scleroses|Peritoneal Scleroses, Encapsulating|Peritoneal Sclerosis|Peritoneal Sclerosis, Encapsulating|Scleroses, Encapsulating Peritoneal|Scleroses, Peritoneal|Sclerosis, Encapsulating Peritoneal|Sclerosis, Peritoneal|Syndrome, Peritoneal Fibrosing|Syndromes, Peritoneal Fibrosing
C567678|613267||Corneal Dystrophy, Fuchs Endothelial, 3|CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD2 LOCUS|FECD3
D002806||Chondrodysplasia Punctata|Chondrodysplasia Punctata 2, X Linked|Chondrodysplasia Punctata 2, X-Linked|Chondrodystrophia Calcificans Congenita|Conradi Hunermann Happle Syndrome|Conradi-Hunermann-Happle Syndrome|Conradi H&#252;nermann Happle Syndrome|Conradi-H&#252;nermann-Happle Syndrome|Conradi-Hunermann-Happle Syndromes|Conradi-H&#252;nermann-Happle Syndromes|Conradi Hunermann Syndrome|Conradi-Hunermann Syndrome|Conradi H&#252;nermann Syndrome|Conradi-H&#252;nermann Syndrome|Conradi-H&#252;nermann Syndromes|Dysplasia Epiphysialis Punctata|Epiphyses, Stippled|Happle Syndrome|Hunermann Conradi Syndrome|Hunermann-Conradi Syndrome|Stippled Epiphyses|Syndrome, Conradi-Hunermann|Syndrome, Conradi-H&#252;nermann|Syndrome, Conradi-Hunermann-Happle|Syndrome, Conradi-H&#252;nermann-Happle|Syndrome, Happle|Syndrome, Hunermann-Conradi|Syndromes, Conradi-H&#252;nermann|Syndromes, Conradi-Hunermann-Happle|Syndromes, Conradi-H&#252;nermann-Happle|X Linked Chondrodysplasia Punctata 2|X-Linked Chondrodysplasia Punctata 2|X Linked Dominant Chondrodysplasia Punctata|X-Linked Dominant Chondrodysplasia Punctata
D031368||Zoster Sine Herpete|Zoster Sine Eruptione
257270||NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B|CSNB1B|CSNB, COMPLETE, AUTOSOMAL RECESSIVE|NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
D001145|115000||Arrhythmias, Cardiac|Arrhythmia|Arrhythmia, Cardiac|Arrythmia|Cardiac Arrhythmia|Cardiac Arrhythmias|Cardiac Dysrhythmia|Dysrhythmia, Cardiac|EXTRASYSTOLES
D002812||Chondroma|Chondromas|Enchondroma|Enchondromas
C563177|103900||Glucocorticoid-Remediable Aldosteronism|ACTH-Dependent Hyperaldosteronism Syndrome|Aldosteronism, Sensitive to Dexamethasone|FH I|Glucocorticoid-Suppressible Hyperaldosteronism|GRA|GSH|Hyperaldosteronism, Familial, Type I
C566913|611572||Otosclerosis 7|OTSC7
182940|D009436||Neural Tube Defects|Acrania|Acranias|Craniorachischises|Craniorachischisis|Cyst, Neurenteric|Cyst, Neuroenteric|Cysts, Neurenteric|Cysts, Neuroenteric|Defect, Neural Tube|Defects, Neural Tube|Developmental Defects, Neural Tube|Developmental Neural Tube Defects|Diastematomyelia|Diastematomyelias|Dysraphism, Occult Spinal|Dysraphisms, Occult Spinal|Exencephalies|Exencephaly|Iniencephalies|Iniencephaly|Myelodysplasia, Spinal Cord|Myelodysplasias, Spinal Cord|Neural Tube Defect|Neural Tube Developmental Defects|Neurenteric Cyst|Neurenteric Cysts|Neuroenteric Cyst|Neuroenteric Cysts|NTD SPINA BIFIDA, INCLUDED|Occult Spinal Dysraphism|Occult Spinal Dysraphisms|Occult Spinal Dysraphism Sequence|Spinal Cord Myelodysplasia|Spinal Cord Myelodysplasias|Spinal Dysraphism, Occult|Spinal Dysraphisms, Occult|Tethered Cord Syndrome|Tethered Cord Syndromes|Tethered Spinal Cord Syndrome
D005097||Exostoses, Multiple Hereditary|Aclases, Diaphyseal|Aclasis, Diaphyseal|Bessel-Hagen Disease|Cartilaginous Exostoses, Multiple|Cartilaginous Exostosis, Multiple|Chondrodysplasia, Hereditary Deforming|Chondrodysplasias, Hereditary Deforming|Deforming Chondrodysplasia, Hereditary|Deforming Chondrodysplasias, Hereditary|Diaphyseal Aclases|Diaphyseal Aclasis|Exostoses, Familial|Exostoses, Hereditary Multiple|Exostoses, Multiple|Exostoses, Multiple Cartilaginous|Exostoses, Multiple, Type I|Exostosis, Familial|Exostosis, Hereditary Multiple|Exostosis, Multiple|Exostosis, Multiple Cartilaginous|Familial Exostoses|Familial Exostosis|Hereditary Deforming Chondrodysplasia|Hereditary Deforming Chondrodysplasias|Hereditary Exostoses, Multiple|Hereditary Multiple Exostoses|Hereditary Multiple Exostosis|Multiple Cartilaginous Exostoses|Multiple Cartilaginous Exostosis|Multiple Exostoses|Multiple Exostoses, Hereditary|Multiple Exostosis|Multiple Exostosis, Hereditary|Multiple Hereditary Exostoses|Multiple Osteochondroma|Multiple Osteochondromas|Multiple Osteochondromatosis|Osteochondroma, Multiple|Osteochondromas, Multiple
D005096||Exostoses|Exostosis
D005099||Exotropia|Alternating Exotropia|Divergent Strabismus|Exodeviation|Exodeviations|Exophoria|Exotropia, Alternating|Exotropia, Monocular|Exotropia, Primary|Exotropia, Secondary|Monocular Exotropia|Primary Exotropia|Secondary Exotropia|Strabismus, Divergent
D005094||Exophthalmos|Proptoses|Proptosis
C567646|613318||Miyoshi Muscular Dystrophy 2|Miyoshi Myopathy 2|MMD2
D018497||Ventricular Dysfunction, Right|Dysfunction, Right Ventricular|Dysfunctions, Right Ventricular|Right Ventricular Dysfunction|Right Ventricular Dysfunctions|Ventricular Dysfunctions, Right
D018496||Hyperoxia|Hyperoxias
C562385|206200||Iron-Refractory Iron Deficiency Anemia|Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism|IRIDA|Iron-Handling Disorder, Hereditary|Pseudo-Iron-Deficiency Anemia
D005177||Factor XIII Deficiency|Deficiencies, Factor XIII|Deficiency, Factor XIII|Factor XIII Deficiencies
300419|C563150||Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related|Mental Retardation, X-Linked 29|Mental Retardation, X-Linked 32|Mental Retardation, X-Linked 33|Mental Retardation, X-Linked 38|Mental Retardation, X-Linked 43|Mental Retardation, X-Linked 54|Mental Retardation, X-Linked 76|Mental Retardation, X-Linked 87|Mrx29|Mrx32|Mrx33|Mrx38|Mrx43|Mrx54|Mrx76|Mrx87|MRXARX
D005185||Fallopian Tube Neoplasms|Cancer, Fallopian Tube|Cancer of the Fallopian Tube|Cancers, Fallopian Tube|Fallopian Tube Cancer|Fallopian Tube Cancers|Fallopian Tube Neoplasm|Neoplasm, Fallopian Tube|Neoplasms, Fallopian Tube
D005184||Fallopian Tube Diseases|Disease, Fallopian Tube|Diseases, Fallopian Tube|Fallopian Tube Disease|Obstructions, Tubal|Obstruction, Tubal|Tubal Obstruction|Tubal Obstructions
D005183||Failure to Thrive|Thrive, Failure to
D018488||Bone Demineralization, Pathologic|Pathologic Bone Demineralization
C563478|166990||Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
D018487||Ventricular Dysfunction, Left|Dysfunction, Left Ventricular|Dysfunctions, Left Ventricular|Left Ventricular Dysfunction|Left Ventricular Dysfunctions|Ventricular Dysfunctions, Left
D018489||Space Motion Sickness|Adaptation Syndrome, Space|Motion Sickness, Space|Space Adaptation Syndrome|Syndrome, Space Adaptation
D002908||Chronic Disease|Chronically Ill|Chronic Diseases|Chronic Illness|Chronic Illnesses|Disease, Chronic|Diseases, Chronic|Illness, Chronic|Illnesses, Chronic
D002915||Chylous Ascites|Ascites, Chylous|Chyloperitoneum|Chylous Peritonitis|Peritonitis, Chylous
C563362|607801||Muscular Dystrophy, Limb-Girdle, Type 1C|LGMD1C
C565218|609823||Deafness, Autosomal Recessive 28|DFNB28
612075||MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)|MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED|MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED, INCLUDED|MNGIE, RRM2B-RELATED, INCLUDED|MTDP8B, INCLUDED|MTDPS8A
C565423|248190||Hypomagnesemia 5, Renal, with Ocular Involvement|FHHNC WITH SEVERE OCULAR INVOLVEMENT|HOMG5|Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement|Hypomagnesemia, Renal, with Ocular Involvement|Macular Coloboma, Bilateral, with Hypercalciuria
612073||MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)|MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED|MTDPS5
239510|C538385||Hyperprolinemia type 2|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency|HPII|Hyperprolinemia, Type II|Type 2 hyperprolinemia
D002916||Chylothorax
D054119||Arachnodactyly|Arachnodactylies
D017169||Neoplasms, Post-Traumatic|Cancer, Post-Traumatic|Cancers, Post-Traumatic|Malignancies, Post Traumatic|Malignancies, Post-Traumatic|Malignancy, Post-Traumatic|Neoplasm, Post-Traumatic|Neoplasms, Post Traumatic|Post Traumatic Cancer|Post-Traumatic Cancer|Post-Traumatic Cancers|Post-Traumatic Malignancies|Post-Traumatic Malignancy|Post-Traumatic Neoplasm|Post Traumatic Neoplasms|Post-Traumatic Neoplasms
D020792||Salivary Calculi|Calculi, Salivary|Calculus, Salivary|Salivary Calculus
300376|D020388||Muscular Dystrophy, Duchenne|Becker Muscular Dystrophy|Becker&apos;s Muscular Dystrophy|BMD|Cardiomyopathy, Dilated, 3B|Cardiomyopathy, Dilated, X-Linked|Childhood Muscular Dystrophy, Pseudohypertrophic|Childhood Pseudohypertrophic Muscular Dystrophy|DMD|Duchenne and Becker Muscular Dystrophy|Duchenne Becker Muscular Dystrophy|Duchenne-Becker Muscular Dystrophy|Duchenne Muscular Dystrophy|Duchenne Type Progressive Muscular Dystrophy|Duchenne-Type Progressive Muscular Dystrophy|Muscular Dystrophy, Becker|Muscular Dystrophy, Becker&apos;s|Muscular Dystrophy, Becker Type|Muscular Dystrophy, Childhood, Pseudohypertrophic|Muscular Dystrophy, Duchenne and Becker Types|Muscular Dystrophy, Duchenne-Becker|Muscular Dystrophy, Duchenne Type|Muscular Dystrophy, Pseudohypertrophic|Muscular Dystrophy, Pseudohypertrophic, Childhood|Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type|Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type|Progressive Muscular Dystrophy, Duchenne Type|Pseudohypertrophic Childhood Muscular Dystrophy|Pseudohypertrophic Muscular Dystrophy|Pseudohypertrophic Muscular Dystrophy, Childhood
613390||FANCONI ANEMIA, COMPLEMENTATION GROUP O|FANCO
205400|D013631||Tangier Disease|A-alphalipoprotein Neuropathies|A-alphalipoprotein Neuropathy|Alpha High Density Lipoprotein Deficiency Disease|Analphalipoproteinemia|Analphalipoproteinemias|Cholesterol Thesaurismoses|Cholesterol Thesaurismosis|HDLDT1|High Density Lipoprotein Deficiency, Tangier Type|High-Density Lipoprotein Deficiency, Tangier Type|High Density Lipoprotein Deficiency, Type 1|High Density Lipoprotein Deficiency, Type I|High-Density Lipoprotein Deficiency, Type I|Neuropathies, A-alphalipoprotein|Neuropathy, A-alphalipoprotein|Neuropathy of Tangier Disease|Tangier Disease Neuropathy|Tangier Hereditary Neuropathy|TGD|Thesaurismoses, Cholesterol|Thesaurismosis, Cholesterol
613391||DEAFNESS, AUTOSOMAL RECESSIVE 84A|DEAFNESS, AUTOSOMAL RECESSIVE 84|DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION|DFNB84|DFNB84A
210900|D001816||Bloom Syndrome|BLM|Bloom&apos;s Syndrome|Bloom Torre Machacek Syndrome|Bloom-Torre-Machacek Syndrome|BLS|BS|Congenital Telangiectatic Erythema|Syndrome, Bloom|Syndrome, Bloom-Torre-Machacek
613392||DEAFNESS, AUTOSOMAL RECESSIVE 85|DFNB85
612522|C567284||Diabetes Mellitus, Insulin-Dependent, 22|IDDM22
613398||WARSAW BREAKAGE SYNDROME|WABS
C565335|605373||Paragangliomas 3|Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas|Glomus Tumors, Familial, 3|Paraganglioma, Familial Malignant|Paragangliomas 4|Paragangliomas, Hereditary Extraadrenal|PGL3|Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma|Pheochromocytoma, Familial Extraadrenal
613399||BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3|BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED|BROVCA3|OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED
C536871|270800||Spastic paraplegia type 5A, recessive|Autosomal recessive spastic paraplegia|SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE|SPG5A
D005156||Facial Neuralgia|Craniofacial Pain Syndrome|Craniofacial Pain Syndromes|Facial Neuralgias|Facial Pain Syndrome|Facial Pain Syndromes|Myofacial Pain Syndrome|Myofacial Pain Syndromes|Neuralgia, Facial|Neuralgias, Facial|Neuralgia, Sphenopalatine|Neuralgias, Sphenopalatine|Pain Syndrome, Craniofacial|Pain Syndrome, Facial|Pain Syndrome, Myofacial|Pain Syndromes, Craniofacial|Pain Syndromes, Facial|Pain Syndromes, Myofacial|Sphenopalatine Neuralgia|Sphenopalatine Neuralgias|Syndrome, Craniofacial Pain|Syndrome, Facial Pain|Syndrome, Myofacial Pain|Syndromes, Craniofacial Pain|Syndromes, Facial Pain|Syndromes, Myofacial Pain
D005155||Facial Nerve Diseases|Acquired Facial Neuropathies|Acquired Facial Neuropathy|Cranial Nerve VII Diseases|Cranial Nerve VII Disorders|Disease, Facial Nerve|Diseases, Facial Nerve|Disorder, Facial Nerve|Disorders, Facial Nerve|Facial Myokymia|Facial Myokymias|Facial Nerve Disease|Facial Nerve Disorder|Facial Nerve Disorders|Facial Nerve Motor Disorders|Facial Nerve Sensory Disorders|Facial Neuritides|Facial Neuritis|Facial Neuropathies|Facial Neuropathies, Acquired|Facial Neuropathies, Familial|Facial Neuropathy|Facial Neuropathy, Acquired|Facial Neuropathy, Familial|Familial Facial Neuropathies|Familial Facial Neuropathy|Ganglionitides, Geniculate|Ganglionitis, Geniculate|Geniculate Ganglionitides|Geniculate Ganglionitis|Motor Disorders, Facial Nerve|Myokymia, Facial|Myokymias, Facial|Neuritides, Facial|Neuritis, Facial|Neuropathies, Facial|Neuropathies, Familial Facial|Neuropathy, Facial|Neuropathy, Familial Facial|Sensory Disorders, Facial Nerve|Seventh Cranial Nerve Diseases
D006486||Hemosiderosis|Hemosideroses
601764|D020936||Epilepsy, Benign Neonatal|Benign Familial Infantile Convulsions|Benign Familial Infantile Convulsions Syndrome|Benign Familial Neonatal Convulsions|Benign Familial Neonatal Epilepsy|Benign Familial Neonatal Infantile Seizures|Benign Familial Neonatal-Infantile Seizures|Benign Infantile Familial Convulsions|Benign Neonatal Convulsion|Benign Neonatal Convulsions|Benign Neonatal Epilepsies|Benign Neonatal Epilepsy|Benign Neonatal Epilepsy, Nonfamilial|Benign Neonatal-Infantile Epilepsies|Benign Neonatal-Infantile Epilepsy|Benign Neonatal Non Familial Convulsions|Benign Neonatal Non-Familial Convulsions|Benign Neonatal Nonfamilial Epilepsy|Benign Non Familial Neonatal Convulsions|Benign Non-Familial Neonatal Convulsions|BFIC1|BFIS1|Convulsion, Benign Neonatal|Convulsions, Benign Familial Infantile, 1|Convulsions, Benign Familial Infantile, 3|Convulsions Benign Familial Neonatal|Convulsions, Benign Neonatal|Convulsions, Benign Neonatal, Familial|Convulsions, Benign Neonatal, Non-Familial|Epilepsies, Benign Neonatal|Epilepsies, Benign Neonatal-Infantile|Epilepsy, Benign Neonatal, Familial|Epilepsy, Benign Neonatal Infantile|Epilepsy, Benign Neonatal-Infantile|Epilepsy, Benign Neonatal, Nonfamilial|Epilepsy, Benign Neonatal, Non-Familial|Familial Benign Neonatal Convulsions|Familial Benign Neonatal Epilepsy|Neonatal Convulsion, Benign|Neonatal Convulsions, Benign|Neonatal Epilepsies, Benign|Neonatal Epilepsy, Benign|Neonatal-Infantile Epilepsies, Benign|Neonatal-Infantile Epilepsy, Benign|Non Familial Benign Neonatal Convulsions|Non-Familial Benign Neonatal Convulsions|Non Familial Benign Neonatal Epilepsy|Non-Familial Benign Neonatal Epilepsy|Seizures, Benign Familial Infantile, 1|Seizures, Benign Familial Infantile, 3|Seizures, Benign Familial Neonatal Infantile|Seizures, Benign Familial Neonatal-Infantile
D020795||Photophobia|Light Sensitivities|Light Sensitivity|Photophobias|Sensitivities, Light|Sensitivity, Light
D005158||Facial Paralysis|Central Facial Paralyses|Central Facial Paralysis|Facial Palsies|Facial Palsy|Facial Palsy, Lower Motor Neuron|Facial Palsy, Upper Motor Neuron|Facial Paralyses, Central|Facial Paralyses, Peripheral|Facial Paralysis, Central|Facial Paralysis, Peripheral|Facial Paresis|Hemifacial Paralysis|Lower Motor Neuron Facial Palsy|Palsies, Facial|Palsy, Facial|Paralyses, Central Facial|Paralyses, Facial|Paralyses, Hemifacial|Paralysis, Central Facial|Paralysis, Facial|Paralysis, Hemifacial|Paralysis, Peripheral Facial|Pareses, Facial|Paresis, Facial|Peripheral Facial Paralysis|Upper Motor Neuron Facial Palsy
D005157||Facial Pain|Craniofacial Pain|Face Pain|Facial Pain, Neuralgic|Myofacial Pain|Neuralgic Facial Pain|Orofacial Pain|Pain, Craniofacial|Pain, Face|Pain, Facial|Pain, Myofacial|Pain, Neuralgic Facial|Pain, Orofacial
C574275||Ectrodactyly|Split-hand deformity
D005162||Factitious Disorders|Disorders, Factitious|Ganser Syndrome|Pseudodementia|Pseudopsychosis|Syndrome, Ganser
D056784||Leukoencephalopathies|CACH Syndrome|CACH Syndromes|CACH/VWM Syndrome|CACH/VWM Syndromes|Centralis Diffusa, Myelinosis|Centralis Diffusas, Myelinosis|Childhood Ataxia with Central Nervous System Hypomyelination|Childhood Ataxia with Central Nervous System Hypomyelinization|Childhood Ataxia with Diffuse Central Nervous System Hypomyelination|Cree Leukoencephalopathies|Cree Leukoencephalopathy|Diffusa, Myelinosis Centralis|Diffusas, Myelinosis Centralis|Diseases, White Matter|Disease, White Matter|Leukoencephalopathies, Cree|Leukoencephalopathy|Leukoencephalopathy, Cree|Leukoencephalopathy with Vanishing White Matter|Myelinosis Centralis Diffusa|Myelinosis Centralis Diffusas|Syndrome, CACH|Syndrome, CACH/VWM|Syndromes, CACH|Syndromes, CACH/VWM|Vanishing White Matter Leukodystrophy|White Matter Disease|White Matter Diseases
D006491||Hemothorax
C565216|610234||Synpolydactyly 3|SPD3
C536275|213600||Idiopathic basal ganglia calcification 1|Adult-onset idiopathic nonarteriosclerotic cerebral calcification|Basal Ganglia Calcification, Idiopathic, 1|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY|Bilateral Striopallidodentate Calcinosis|BSPDC|Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset|Cerebrovascular ferrocalcinosis|FAHR DISEASE, FAMILIAL, FORMERLY|Familial idiopathic basal ganglia calcification|Ferrocalcinosis, Cerebrovascular|Fibgc|IBGC1|IBGC3, FORMERLY|Striopallidodentate Calcinosis|Striopallidodentate calcinosis, autosomal dominant, adult onset|Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset|Striopallidodentate Calcinosis, Bilateral
101400||SAETHRE-CHOTZEN SYNDROME|SCS ACROCEPHALOSYNDACTYLY, TYPE III|ACS3|ACS III|CHOTZEN SYNDROME|ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED|BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED|BPES3, FORMERLY, INCLUDED
C565759|604571||Bare Lymphocyte Syndrome, Type I|BLS, Type I|HLA Class I Deficiency
D018467||Positive-Pressure Respiration, Intrinsic|AutoPEEP|Auto PEEP|Auto-PEEP|Intrinsic PEEP|Intrinsic Positive-Pressure Respiration|Nontherapeutic Positive Pressure Respiration|Nontherapeutic Positive-Pressure Respiration|Non Therapeutic Positive Pressure Respiration|Non-Therapeutic Positive-Pressure Respiration|Occult PEEP|Occult Positive-Pressure Respiration|PEEP, Intrinsic|PEEP, Occult|Positive Pressure Respiration, Intrinsic|Positive Pressure Respiration, Nontherapeutic|Positive-Pressure Respiration, Nontherapeutic|Positive Pressure Respiration, Non Therapeutic|Positive-Pressure Respiration, Non-Therapeutic|Positive Pressure Respiration, Occult|Positive-Pressure Respiration, Occult|Respiration, Intrinsic Positive-Pressure|Respiration, Nontherapeutic Positive Pressure|Respiration, Nontherapeutic Positive-Pressure|Respiration, Non Therapeutic Positive Pressure|Respiration, Non-Therapeutic Positive-Pressure|Respiration, Occult Positive-Pressure
C562583|300323||Gout, HPRT-Related|GOUT, HPRT-RELATED|HPRT1 Deficiency, Partial|HPRT Deficiency, Partial|Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial|Kelley-Seegmiller Syndrome
613382||BRACHYDACTYLY, TYPE E2|BDE2
147050|C564133||Ige Responsiveness, Atopic|ATOPIC HYPERSENSITIVITY, INCLUDED|ATOPY, SUSCEPTIBILITY TO, INCLUDED|IGEL|IgE, LEVEL OF|IGER|Ige Response Underlying Allergic Asthma and Rhinitis|IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS IgE, ELEVATED LEVEL OF, INCLUDED|Immunoglobulin E, Basic Level of, in Serum
613385||AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
D020787||Central Nervous System Venous Angioma|Angioma, Cerebral Venous|Angioma, Intracranial Venous|Angiomas, Cerebral Venous|Angiomas, Intracranial Venous|Angioma, Venous, Central Nervous System|Cerebral Venous Angioma|Cerebral Venous Angiomas|Intracranial Venous Angioma|Intracranial Venous Angiomas|Venous Angioma, Central Nervous System|Venous Angioma, Cerebral|Venous Angioma, Intracranial|Venous Angiomas, Cerebral|Venous Angiomas, Intracranial
D020785||Central Nervous System Vascular Malformations|Arteriovenous Fistula, Dural|Arteriovenous Fistulas, Dural|Brain Capillary Telangiectasia|Brain Capillary Telangiectasias|Brain Vascular Malformation|Brain Vascular Malformations|Capillary Telangiectasia, Brain|Capillary Telangiectasia, Pontine|Capillary Telangiectasias, Brain|Capillary Telangiectasias, Pontine|Central Nervous System Congenital Vascular Malformations|Central Nervous System Vascular Anomalies|Cerebral Embryonic Artery, Persistent|Congenital Vascular Malformations, Central Nevous System|Dural Arteriovenous Fistula|Dural Arteriovenous Fistulas|Embryonic Artery, Persistent, Cerebral|Malformation, Brain Vascular|Malformations, Brain Vascular|Persistent Cerebral Embryonic Artery|Pontine Capillary Telangiectasia|Pontine Capillary Telangiectasias|Telangiectasia, Brain Capillary|Telangiectasia, Pontine Capillary|Telangiectasias, Brain Capillary|Telangiectasias, Pontine Capillary|Vascular Anomalies, Central Nervous System|Vascular Malformation, Brain|Vascular Malformations, Brain|Vascular Malformations, Central Nervous System|Vascular Malformations, Congenital, Nervous System
604213|C535459||Chudley-Mccullough syndrome|CMCS|DEAFNESS, AUTOSOMAL RECESSIVE 82|Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction|Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|DFNB82
C566555|602398||Desmosterolosis
D054138||Sinus Arrest, Cardiac|Cardiac Sinus Arrest|Cardiac Sinus Arrests|Cardiac Sinus Pause|Cardiac Sinus Pauses|Sinus Arrests, Cardiac|Sinus Pause, Cardiac|Sinus Pauses, Cardiac
C566766|613695||Long Qt Syndrome 5|LONG QT SYNDROME 2/5, DIGENIC, INCLUDED;LQT2/5, DIGENIC, INCLUDED|LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT5
D018476||Hypokinesia|Antiorthostatic Hypokinesia|Antiorthostatic Hypokinesias|Bradykinesia|Bradykinesias|Hypodynamia|Hypokinesia, Antiorthostatic|Hypokinesias, Antiorthostatic
C563210|613161||Beta-Ureidopropionase Deficiency
612525|C567283||Pyloric Stenosis, Infantile Hypertrophic, 5|IHPS5
D054139||Tachycardia, Reciprocating|Reciprocal Tachycardia|Reciprocal Tachycardias|Reciprocating Tachycardia|Reciprocating Tachycardias|Tachycardia, Reciprocal|Tachycardias, Reciprocal|Tachycardias, Reciprocating
D018450||Disease Progression|Disease Exacerbation|Disease Progressions|Progression, Disease|Progressions, Disease
D017121||Porphyria, Hepatoerythropoietic|Erythrohepatic Porphyria|Erythrohepatic Porphyrias|Hepatoerythropoietic Porphyria|Hepatoerythropoietic Porphyrias|Porphyria, Erythrohepatic|Porphyrias, Erythrohepatic|Porphyrias, Hepatoerythropoietic
613370||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10|MODY10
D020779||Sinus Pericranii
613375||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11|MODY11
D006468||Hemopneumothorax
613376||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC|DHMN2C|HMN2C|HMN IIC|NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
D006469||Hemoptysis|Hemoptyses
D005134||Eye Neoplasms|Cancer, Eye|Cancer of Eye|Cancer of the Eye|Cancers, Eye|Eye Cancer|Eye Cancers|Eye Neoplasm|Neoplasm, Eye|Neoplasms, Eye
D020773||Headache Disorders|Cephalgia Syndrome|Cephalgia Syndromes|Chronic Daily Headache|Chronic Daily Headaches|Chronic Headache|Chronic Headaches|Daily Headache, Chronic|Daily Headaches, Chronic|Headache, Chronic|Headache, Chronic Daily|Headache Disorder|Headache, Intractable|Headaches, Chronic|Headaches, Chronic Daily|Headaches, Intractable|Headache Syndrome|Headache Syndromes|Intractable Headache|Intractable Headaches|Syndrome, Headache
D006465||Hemoperitoneum|Hemoperitoneums
D054141||Ventricular Flutter|Ventricular Flutters
D006473||Postpartum Hemorrhage|Delayed Postpartum Hemorrhage|Hemorrhage, Delayed Postpartum|Hemorrhage, Immediate Postpartum|Hemorrhage, Postpartum|Immediate Postpartum Hemorrhage|Postpartum Hemorrhage, Delayed|Postpartum Hemorrhage, Immediate
193520||WATSON SYNDROME|CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS|PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS
D005141||Eyelid Diseases|Disease, Eyelid|Diseases, Eyelid|Eyelid Disease
D006474||Hemorrhagic Disorders|Diatheses, Hemorrhagic|Diathesis, Hemorrhagic|Disorder, Hemorrhagic|Disorders, Hemorrhagic|Hemorrhagic Diatheses|Hemorrhagic Diathesis|Hemorrhagic Disorder
D006471||Gastrointestinal Hemorrhage|Gastrointestinal Hemorrhages|Hematochezia|Hematochezias|Hemorrhage, Gastrointestinal
D006472||Oral Hemorrhage|Hemorrhage, Oral|Oral Hemorrhages
D005142||Eyelid Neoplasms|Eyelid Neoplasm|Neoplasm, Eyelid|Neoplasms, Eyelid
D054144||Heart Failure, Diastolic|Diastolic Heart Failure|Diastolic Heart Failures|Heart Failures, Diastolic
D006470||Hemorrhage|Bleeding|Hemorrhages
D054143||Heart Failure, Systolic|Heart Failures, Systolic|Systolic Heart Failure|Systolic Heart Failures
D017116||Low Back Pain|Ache, Low Back|Aches, Low Back|Backache, Low|Back Ache, Low|Backaches, Low|Back Aches, Low|Back Pain, Low|Back Pain, Lower|Back Pains, Low|Back Pains, Lower|Low Backache|Low Back Ache|Low Backaches|Low Back Aches|Low Back Pain, Mechanical|Low Back Pain, Posterior Compartment|Low Back Pain, Postural|Low Back Pain, Recurrent|Low Back Pains|Lower Back Pain|Lower Back Pains|Lumbago|Mechanical Low Back Pain|Pain, Low Back|Pain, Lower Back|Pains, Low Back|Pains, Lower Back|Postural Low Back Pain|Recurrent Low Back Pain
D017114||Liver Failure, Acute|Acute Hepatic Failure|Acute Liver Failure|Failure, Acute Hepatic|Failure, Acute Liver|Fulminant Hepatic Failure|Fulminant Hepatic Failures|Fulminant Liver Failure|Fulminant Liver Failures|Fulminating Hepatic Failure|Fulminating Hepatic Failures|Fulminating Liver Failure|Fulminating Liver Failures|Hepatic Failure, Acute|Hepatic Failure, Fulminant|Hepatic Failure, Fulminating|Hepatic Failures, Fulminant|Hepatic Failures, Fulminating|Liver Failure, Fulminant|Liver Failure, Fulminating|Liver Failures, Fulminant|Liver Failures, Fulminating
D020760||Spinal Cord Ischemia|Cord Ischemia, Spinal|Cord Ischemias, Spinal|Experimental Spinal Cord Ischemia|Ischemia, Spinal Cord|Ischemias, Spinal Cord|Ischemic Myelopathies|Ischemic Myelopathy|Myelopathies, Ischemic|Myelopathy, Ischemic|Spinal Cord Ischemia, Experimental|Spinal Cord Ischemias
D018461||Soft Tissue Infections|Infection, Soft Tissue|Infections, Soft Tissue|Soft Tissue Infection
C565278|605850||Dimethylglycine Dehydrogenase Deficiency|DMGDHD|DMGDH Deficiency
D018460||Fractures, Comminuted|Comminuted Fracture|Comminuted Fractures|Fracture, Comminuted
D020767||Intracranial Thrombosis|Brain Thromboses|Brain Thrombosis|Brain Thrombus|Cerebral Thromboses|Cerebral Thrombosis|Cerebral Thrombus|Intracranial Thromboses|Intracranial Thrombus|Thromboses, Brain|Thromboses, Cerebral|Thromboses, Intracranial|Thrombosis, Brain|Thrombosis, Cerebral|Thrombosis, Intracranial|Thrombus, Brain|Thrombus, Cerebral|Thrombus, Intracranial
D005148||Facial Dermatoses|Dermatoses, Facial|Dermatosis, Facial|Elastoidoses, Nodular|Elastoidosis, Nodular|Elastoses, Nodular|Elastosis, Nodular|Facial Dermatosis|Favre Racouchot Syndrome|Favre-Racouchot Syndrome|Nodular Elastoidoses|Nodular Elastoidosis|Nodular Elastoses|Nodular Elastosis|Syndrome, Favre-Racouchot
613364||SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT|SPG41
D006479||Hemorrhagic Fever, Crimean|Congo Virus Infection|Congo Virus Infections|Crimean Hemorrhagic Fever|Crimean Hemorrhagic Fevers|Fever, Crimean Hemorrhagic|Fevers, Crimean Hemorrhagic|Hemorrhagic Fevers, Crimean|Infection, Congo Virus|Infections, Congo Virus
D020766||Intracranial Embolism|Brain Emboli|Brain Embolism|Brain Embolus|Cerebral Emboli|Cerebral Embolism|Cerebral Embolus|Emboli, Brain|Emboli, Cerebral|Embolism, Brain|Embolism, Cerebral|Embolism, Intracranial|Embolus, Brain|Embolus, Cerebral
D020765||Intracranial Arterial Diseases|Arterial Brain Disease|Arterial Brain Diseases|Arterial Brain Disorder|Arterial Brain Disorders|Arterial Disease, Brain|Arterial Disease, Intracranial|Arterial Diseases, Brain|Arterial Diseases, Intracranial|Arterial Disorder, Intracranial|Arterial Disorders, Intracranial|Brain Arterial Disease|Brain Arterial Diseases|Brain Diseases, Arterial|Brain Disorder, Arterial|Brain Disorders, Arterial|Intracranial Arterial Disease|Intracranial Arterial Disorder|Intracranial Arterial Disorders
C565799|604292||Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3|EEC3|EEC Syndrome 3
C565054|131440||Myeloproliferative Disorder, Chronic, with Eosinophilia|EMP|Eosinophils, Malignant Proliferation of|MPE
C567734|613120||Brugada Syndrome 7|BRGDA7
D003616|220200||Dandy-Walker Syndrome|Dandy-Walker Complex|Dandy-Walker Cyst|Dandy-Walker Deformity|Dandy Walker Malformation|Dandy-Walker Malformation|DANDY-WALKER MALFORMATION, INCLUDED|Dandy Walker Syndrome|Dandy Walker Syndrome, Familial|Dandy-Walker Syndrome, Familial|DWM, INCLUDED|DWS|Familial Dandy-Walker Syndrome|Hydrocephalus, Internal, Dandy-Walker Type|Hydrocephalus, Noncommunicating, Dandy-Walker Type|Luschka-Magendie Foramina Atresia|Malformation, Dandy-Walker|Syndrome, Dandy-Walker|Syndrome, Familial Dandy-Walker
D006478||Hemorrhagic Fever, American|American Hemorrhagic Fever|Argentinian Hemorrhagic Fever|Bolivian Hemorrhagic Fever|Fever, American Hemorrhagic|Fever, Argentinian Hemorrhagic|Fever, Bolivian Hemorrhagic|Hemorrhagic Fever, Argentinian|Hemorrhagic Fever, Bolivian
C567931|611945||Spastic Paraplegia 37, Autosomal Dominant|SPG37
D020763||Pathological Conditions, Anatomical|Anatomical Pathological Condition|Anatomical Pathological Conditions|Condition, Anatomical Pathological|Conditions, Anatomical Pathological|Pathological Condition, Anatomical
D006475||Vitamin K Deficiency Bleeding|Hemorrhagic Disease of Newborn|Newborn Hemorrhagic Disease|Newborn Hemorrhagic Diseases
D020762||Infarction, Posterior Cerebral Artery|Embolic Infarction, Posterior Cerebral Artery|Infarction, PCA|PCA Infarction|Posterior Cerebral Artery Embolic Infarction|Posterior Cerebral Artery Infarction|Posterior Cerebral Artery Stroke|Posterior Cerebral Artery Syndrome|Posterior Cerebral Artery Thrombotic Infarction|Stroke, Posterior Cerebral Artery|Thrombotic Infarction, Posterior Cerebral Artery
D005146||Facial Asymmetry|Asymmetries, Facial|Asymmetry, Facial|Facial Asymmetries
D006484||Hemorrhoids|Hemorrhoid
D005151||Facial Injuries|Facial Injury|Injuries, Facial|Injury, Facial
D006482||Hemorrhagic Fevers, Viral|Fevers, Viral Hemorrhagic|Fever, Viral Hemorrhagic|Hemorrhagic Fever, Viral|Viral Hemorrhagic Fever|Viral Hemorrhagic Fevers
D006483||Hemorrhagic Septicemia|Bacteremia, Haemorrhagic|Bacteremia, Hemorrhagic|Haemorrhagic Bacteremia|Haemorrhagic Septicaemia|Haemorrhagic Septicemia|Hemorrhagic Bacteremia|Hemorrhagic Septicaemia|Septicaemia, Haemorrhagic|Septicaemia, Hemorrhagic|Septicemia, Haemorrhagic|Septicemia, Hemorrhagic
D005153||Facial Neoplasms|Facial Neoplasm|Neoplasm, Facial|Neoplasms, Facial
C566296|613694||Cardiomyopathy, Dilated, 1u|CMD1U
D006480||Hemorrhagic Fever with Renal Syndrome|Epidemic Hemorrhagic Fever|Epidemic Hemorrhagic Fevers|Hemorrhagic Fever, Epidemic|Hemorrhagic Fever, Korean|Hemorrhagic Fevers, Epidemic|Hemorrhagic Nephroso-Nephritides|Hemorrhagic Nephroso Nephritis|Hemorrhagic Nephroso-Nephritis|HFRS|Korean Hemorrhagic Fever|Nephropathia Epidemica|Nephroso-Nephritides, Hemorrhagic|Nephroso-Nephritis, Hemorrhagic
D006481||Hemorrhagic Fever, Omsk|Fever, Omsk Hemorrhagic|Omsk Hemorrhagic Fever
D005150||Facial Hemiatrophy|Atrophies, Hemifacial|Atrophies, Progressive Hemifacial|Atrophy, Hemifacial|Atrophy, Progressive Hemifacial|Atrophy, Romberg Hemi-Facial|Disease, Parry-Romberg|Disease, Romberg|Disease, Romberg&apos;s|Facial Hemiatrophies|Facial Hemiatrophies, Progressive|Facial Hemiatrophy of Romberg|Facial Hemiatrophy, Progressive|Hemiatrophies, Facial|Hemiatrophies, Progressive Facial|Hemiatrophy, Facial|Hemiatrophy, Progressive Facial|Hemifacial Atrophies|Hemifacial Atrophy|Hemifacial Atrophy, Progressive|Hemi-Facial Atrophy, Romberg|Parry Romberg Disease|Parry-Romberg Disease|Parry Romberg Syndrome|Parry-Romberg Syndrome|Progressive Facial Hemiatrophies|Progressive Facial Hemiatrophy|Progressive Hemifacial Atrophies|Progressive Hemifacial Atrophy|Romberg Disease|Romberg Facial Hemiatrophy|Romberg Hemi Facial Atrophy|Romberg Hemi-Facial Atrophy|Romberg&apos;s Disease|Rombergs Disease|Syndrome, Parry-Romberg
D018459||Lichen Sclerosus et Atrophicus|Lichen Scleroses|Lichen Sclerosis|Lichen Sclerosis et Atrophicus|Lichen Sclerosus|Scleroses, Lichen|Sclerosis, Lichen|Sclerosus, Lichen
D018458||Persistent Vegetative State|Minimally Conscious State|Minimally Conscious States|Permanent Vegetative State|Permanent Vegetative States|Persistent Unawareness State|Persistent Unawareness States|Persistent Vegetative States|Postcomatose Unawareness State|Post Comatose Unawareness State|Post-Comatose Unawareness State|Postcomatose Unawareness States|Post-Comatose Unawareness States|Post-Traumatic Unawarenesses, Prolonged|Post-Traumatic Unawareness, Prolonged|Posttraumatic Unawareness State|Post Traumatic Unawareness State|Post-Traumatic Unawareness State|Posttraumatic Unawareness States|Post-Traumatic Unawareness States|Post Traumatic Vegetative State|Post-Traumatic Vegetative State|Post-Traumatic Vegetative States|Prolonged Post Traumatic Unawareness|Prolonged Post-Traumatic Unawareness|Prolonged Post-Traumatic Unawarenesses|PVS (Persistent Vegetative State)|PVSs (Persistent Vegetative State)|State, Minimally Conscious|State, Permanent Vegetative|State, Persistent Unawareness|State, Persistent Vegetative|State, Postcomatose Unawareness|State, Post-Comatose Unawareness|State, Posttraumatic Unawareness|State, Post-Traumatic Unawareness|State, Post-Traumatic Vegetative|States, Minimally Conscious|States, Permanent Vegetative|States, Persistent Unawareness|States, Persistent Vegetative|States, Postcomatose Unawareness|States, Post-Comatose Unawareness|States, Posttraumatic Unawareness|States, Post-Traumatic Unawareness|States, Post-Traumatic Vegetative|States, Transient Vegetative|States, Vegetative|State, Transient Vegetative|State, Vegetative|Transient Vegetative State|Transient Vegetative States|Unawarenesses, Prolonged Post-Traumatic|Unawareness, Prolonged Post-Traumatic|Unawareness State, Persistent|Unawareness State, Postcomatose|Unawareness State, Post-Comatose|Unawareness State, Posttraumatic|Unawareness State, Post-Traumatic|Unawareness States, Persistent|Unawareness States, Postcomatose|Unawareness States, Post-Comatose|Unawareness States, Posttraumatic|Unawareness States, Post-Traumatic|Vegetative State|Vegetative State, Permanent|Vegetative State, Persistent|Vegetative State, Post-Traumatic|Vegetative States|Vegetative States, Permanent|Vegetative States, Persistent|Vegetative States, Post-Traumatic|Vegetative States, Transient|Vegetative State, Transient
C563307|601493||Cardiomyopathy, Dilated, 1C|CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION, INCLUDED|CMD1C|LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED|LVNC3, INCLUDED
D017129||Anisakiasis|Anisakiases
D018455||Protein S Deficiency|Deficiencies, Protein S|Deficiency, Protein S|Hereditary Thrombophilia Due To Protein S Deficiency|Protein S Deficiencies
D018457||Placenta, Retained|Placentas, Retained|Retained Placenta|Retained Placentas
C563585||Metatarsus Varus, Type I
C563583||Microcephaly with Chorioretinopathy, Autosomal Dominant
C563589||Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
D005119||Extravasation of Diagnostic and Therapeutic Materials|Contrast Media Extravasation|Extravasation of Contrast Media|Extravasation of Diagnostic, Therapeutic Materials
C563587||Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A
C563586||Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
125420||DENTIN DYSPLASIA, TYPE II|ANOMALOUS DYSPLASIA OF DENTIN|CORONAL DENTIN DYSPLASIA|DENTIN DYSPLASIA, SHIELDS TYPE II|DTDP2|PULPAL DYSPLASIA|PULP STONES
D020757||Amaurosis Fugax|Blindness, Monocular, Transient|Blindness, Transient Monocular|Monocular Blindness, Transient|Transient Monocular Blindness
C567482|300633||Hypospadias 1, X-Linked|Hysp1
613353||MONONEUROPATHY OF THE MEDIAN NERVE, MILD|CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO|MNMN
D005117||Cardiac Complexes, Premature|Beat, Premature|Beats, Premature|Cardiac Complex, Premature|Complexes, Premature Cardiac|Ectopic Heartbeat|Ectopic Heartbeats|Extrasystole|Extrasystoles|Heartbeat, Ectopic|Heartbeats, Ectopic|Premature Beat|Premature Beats|Premature Cardiac Complex|Premature Cardiac Complexes|Premature Cardiac Complices
D007775||Lactation Disorders|Disorder, Lactation|Disorders, Lactation|Hypogalactia|Hypogalactias|Lactation Disorder
D006445||Hemoglobin C Disease|C Disease, Hemoglobin|C Diseases, Hemoglobin|Hemoglobin-C Disease|Hemoglobin C Diseases|Hemoglobin-C Diseases
D020752||Neurocutaneous Syndromes|Neurocutaneous Disorder|Neurocutaneous Disorders|Neurocutaneous Syndrome|Neuroectodermal Dysplasia Syndrome|Neuroectodermal Dysplasia Syndromes|Phacomatoses|Phacomatosis|Phakomatoses|Phakomatosis|Syndrome, Neurocutaneous|Syndrome, Neuroectodermal Dysplasia|Syndromes, Neurocutaneous|Syndromes, Neuroectodermal Dysplasia
D020751||Alcohol-Induced Disorders|Alcohol-Induced Disorder|Alcohol Induced Disorders
D055496||Neurogenic Bowel|Bowel, Neurogenic|Bowels, Neurogenic|Neurogenic Bowels
C535288|266280||Rapadilino syndrome|Radial and patellar aplasia|Radial and patellar hypoplasia
D054160||Systolic Murmurs|Ejection Murmur|Ejection Murmurs|Murmur, Ejection|Murmurs, Ejection|Murmurs, Systolic|Murmurs, Systolic Regurgitant|Murmur, Systolic|Murmur, Systolic Regurgitant|Regurgitant Murmurs, Systolic|Regurgitant Murmur, Systolic|Systolic Murmur|Systolic Regurgitant Murmur|Systolic Regurgitant Murmurs
D006450||Hemoglobin SC Disease|Disease, Hemoglobin SC|Disease, SC|Diseases, Hemoglobin SC|Diseases, SC|Hemoglobin SC Diseases|SC Disease|SC Disease, Hemoglobin|SC Diseases|SC Diseases, Hemoglobin|Sickle Cell Hemoglobin C Disease
D020759||Anterior Spinal Artery Syndrome|Anterior Spinal Artery Dissection|Dissection, Anterior Spinal Artery|Syndrome, Anterior Spinal Artery
D020758||Spinal Cord Vascular Diseases|Hematomyelia|Hematomyelias|Posterior Spinal Artery Syndrome|Vascular Diseases, Spinal Cord
C566801|172870||Pigmented Paravenous Chorioretinal Atrophy|PPCRA
C563592||Membranous Cranial Ossification, Delayed
D055499||Catheter-Related Infections|Catheter-Associated Infection|Catheter Associated Infections|Catheter-Associated Infections|Catheter-Related Infection|Catheter Related Infections|Infection, Catheter-Associated|Infection, Catheter-Related|Infections, Catheter-Associated|Infections, Catheter-Related
C563591||Mental and Growth Retardation with Amblyopia
D018424||Cholesteatoma, Middle Ear|Aural Cholesteatoma|Aural Cholesteatomas|Cholesteatoma, Aural|Cholesteatomas, Aural|Cholesteatomas, Middle Ear|Middle Ear Cholesteatoma|Middle Ear Cholesteatomas
C563590||Meralgia Paraesthetica, Familial
600048||BREAST CANCER, 11-22 TRANSLOCATION-ASSOCIATED|BRCATA
C567510|611868||Prostate Cancer, Hereditary, 12|Hpc12
C563596||Melanoma, Malignant Familial Intraocular
C566929|611515||Febrile Convulsions, Familial, 7|FEB7|FEBRILE CONVULSIONS, FAMILIAL, 7|FEBRILE SEIZURES, FAMILIAL, 7
D018442||Lymphoma, B-Cell, Marginal Zone|Lymphoma, MALT|Lymphoma, Mucosa Associated Lymphoid Tissue|Lymphoma, Mucosa-Associated Lymphoid Tissue|Lymphoma of Mucosa Associated Lymphoid Tissue|Lymphoma of Mucosa-Associated Lymphoid Tissue|Lymphomas, MALT|MALT Lymphoma|MALT Lymphomas|Marginal Zone B Cell Lymphoma|Marginal Zone B-Cell Lymphoma|Mucosa Associated Lymphoid Tissue Lymphoma|Mucosa-Associated Lymphoid Tissue Lymphoma
D019773||Epiretinal Membrane|Epiretinal Membranes|Membrane, Epiretinal|Membranes, Epiretinal
D020513|170500||Paralysis, Hyperkalemic Periodic|Adynamia Episodica Hereditaria|Adynamia Episodica Hereditaria with or without Myotonia|Disease, Gamstorp|Familial Hyperkalemic Periodic Paralysis|Gamstorp Disease|GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED|Gamstorp Episodic Adynamy|Hyperkalemic Periodic Paralysis|Hyperkalemic Periodic Paralysis, Familial|Hyperkalemic Periodic Paralysis Type 2|Hyperkaliemic Periodic Paralysis Type 2|HyperKPP|HyperPP|HYPP|Myotonic Periodic Paralysis|Paralysis, Periodic, Hyperkalemic, Familial|Primary Hyperkalemic Periodic Paralysis|Sodium Channel Muscle Disease
C563594||Melanosis, Universal
C563593||Melorheostosis with Osteopoikilosis
C537689|610688||Joubert syndrome 6|JBTS6
C563599||Maxillofacial Dysostosis
C563598||Median-Ulnar Nerve Communications|Martin-Gruber Median-Ulnar Anastomosis
C563597||Megaduodenum and/or Megacystis
606069|C537249||Hemochromatosis, type 4|Hemochromatosis, autosomal dominant|Hemochromatosis due to defect in ferroportin|HFE4
613340||EPILEPSY, HOT WATER, 2|HWE2
D005126||Eye Burns|Burn, Eye|Burns, Eye|Eye Burn
D005129||Eye Foreign Bodies|Eye Foreign Body|Foreign Bodies, Eye|Foreign Body, Eye
D005128||Eye Diseases|Disease, Eye|Diseases, Eye|Eye Disease
D006456||Hemoglobinuria
D007787||Lactose Intolerance|Alactasia|Dairy Product Intolerance|Hypolactasia|Intolerance, Lactose|Lactose Malabsorption|Malabsorption, Lactose|Milk Sugar Intolerance
D006453||Hemoglobinopathies|Hemoglobinopathy
D017490|242300||Ichthyosis, Lamellar|ARCI1|Baby Syndrome, Collodion|Baby Syndrome, Harlequin|Baby Syndromes, Collodion|Baby Syndromes, Harlequin|COLLODION BABY, SELF-HEALING|Collodion Baby Syndrome|Collodion Baby Syndromes|Collodion Fetus|Congenita, Ichthyosis|Congenita I, Ichthyosis|Congenita II, Ichthyosis|Congenita IIs, Ichthyosis|Congenita Is, Ichthyosis|Congenital Ichthyosiform Erythroderma, Nonbullous|Congenital Nonbullous Ichthyosiform Erythroderma|Congenitas, Ichthyosis|Desquamation of Newborn|Erythroderma Ichthyosiforme, Nonbullous|Erythroderma Ichthyosiformes, Nonbullous|Fetus, Collodion|Fetus, Harlequin|Harlequin Baby Syndrome|Harlequin Baby Syndromes|Harlequin Fetus|Harlequin Ichthyoses|Harlequin Ichthyosis|Ichthyose, Lamellar|Ichthyoses, Harlequin|Ichthyoses, Lamellar|Ichthyosiforme, Nonbullous Erythroderma|Ichthyosiform Erythroderma, Nonbullous Congenital|Ichthyosiformes, Nonbullous Erythroderma|Ichthyosis Congenita|Ichthyosis Congenita I|Ichthyosis Congenita II|Ichthyosis Congenita IIs|Ichthyosis Congenita Is|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION|Ichthyosis Congenitas|Ichthyosis, Harlequin|Ichthyosis, Lamellar, 1|ICHTHYOSIS, LAMELLAR, 1, FORMERLY|ICR2|I, Ichthyosis Congenita|Is, Ichthyosis Congenita|Lamellar Exfoliation of Newborn|Lamellar Ichthyose|Lamellar Ichthyoses|Lamellar Ichthyosis|Lamellar Ichthyosis, Type 1|LI1, FORMERLY|Newborn Desquamation|Newborn Desquamations|Newborn Lamellar Exfoliation|Newborn Lamellar Exfoliations|Nonbullous Congenital Ichthyosiform Erythroderma|Nonbullous Congenital Lamellar Ichthyosis|Nonbullous Erythroderma Ichthyosiforme|Nonbullous Erythroderma Ichthyosiformes|SHCB|Syndrome, Collodion Baby|Syndrome, Harlequin Baby|Syndromes, Collodion Baby|Syndromes, Harlequin Baby
D005124||Eye Abnormalities|Abnormalities, Eye|Abnormality, Eye|Eye Abnormality
D005130||Eye Hemorrhage|Eye Hemorrhages|Hemophthalmos|Hemorrhage, Eye
D006463||Hemolytic-Uremic Syndrome|Gasser&apos;s Syndrome|Gassers Syndrome|Gasser Syndrome|Hemolytic Uremic Syndrome|Syndrome, Gasser|Syndrome, Hemolytic-Uremic
D007794||Lameness, Animal|Animal Gait Disorder|Animal Gait Disorders|Animal Lameness|Animal Lamenesses|Disorder, Animal Gait|Disorders, Animal Gait|Gait Disorder, Animal|Gait Disorders, Animal|Lamenesses, Animal
613339||EPILEPSY, HOT WATER, 1|BATHING EPILEPSY|HWE1|WATER IMMERSION EPILEPSY
D005132||Eye Manifestations|Eye Manifestation|Manifestation, Eye|Manifestations, Eye
D006461||Hemolysis
D005131||Eye Injuries|Eye Injury|Injuries, Eye|Injury, Eye
D017109||Akathisia, Drug-Induced|Acathisia, Drug Induced|Acathisia, Drug-Induced|Akathisia, Drug Induced|Akathisia, Tardive|Drug-Induced Acathisia|Drug Induced Akathisia|Drug-Induced Akathisia|Pseudoakathisia|Tardive Akathisia
C567085|611788||Aortic Aneurysm, Familial Thoracic 6|Aat6|Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
D018437||Brown-Sequard Syndrome|Brown Sequard Disease|Brown-Sequard Disease|Brown-Sequard Paralysis|Brown Sequard&apos;s Disease|Brown-Sequard&apos;s Disease|Brown-Sequards Disease|Brown Sequard&apos;s Paralysis|Brown-Sequard&apos;s Paralysis|Brown-Sequards Paralysis|Brown Sequard&apos;s Syndrome|Brown-Sequard&apos;s Syndrome|Brown-Sequards Syndrome|Brown Sequard Syndrome|Hemicord Syndrome|Hemicord Syndromes|Hemiparaplegic Syndrome|Hemiparaplegic Syndromes|Hemispinal Cord Syndrome|Hemispinal Cord Syndromes|Paralysis, Brown-Sequard&apos;s|Spastic Spinal Monoplegia Syndrome|Syndrome, Brown-Sequard|Syndrome, Brown-Sequard&apos;s|Syndrome, Hemicord|Syndrome, Hemiparaplegic|Syndrome, Hemispinal Cord|Syndromes, Hemicord|Syndromes, Hemiparaplegic|Syndromes, Hemispinal Cord
D019767||Maxillofacial Abnormalities|Abnormalities, Maxillofacial|Abnormality, Maxillofacial|Maxillofacial Abnormality
D018438||Blue Toe Syndrome|Syndrome, Blue Toe
C563563||Muscle Cramps, Familial
C564894||Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
C537275||Cirrhosis, familial, with deposition of abnormal glycogen
C565298|605749||Cataract, Autosomal Recessive, Early-Onset, Pulverulent|CAAR|CATARACT 26, MULTIPLE TYPES|CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT|CTRCT26
C564893||Presentey Anomaly|Eosinophil Peroxidase Deficiency, Partial|Peroxidase and Phospholipid Deficiency in Eosinophils
C563560||Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant|Kugelberg-Welander Syndrome, Autosomal Dominant|Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
C563566||Multiple Exostoses with Spastic Tetraparesis
C563565||Cerebellar Granule Cell Hypertrophy and Megalencephaly
C567906|309530||Mental Retardation, X-Linked 1|MRX1|MRX18, INCLUDED|MRX MENTAL RETARDATION, X-LINKED 18, INCLUDED
D007759||Labyrinth Diseases|Ear Disease, Inner|Ear Diseases, Inner|Inner Ear Disease|Inner Ear Diseases|Labyrinth Disease
D006429||Hemiplegia|Crossed Hemiplegia|Crossed Hemiplegias|Flaccid Hemiplegia|Flaccid Hemiplegias|Hemiplegia, Crossed|Hemiplegia, Flaccid|Hemiplegia, Infantile|Hemiplegia, Post Ictal|Hemiplegia, Post-Ictal|Hemiplegias|Hemiplegias, Crossed|Hemiplegias, Flaccid|Hemiplegias, Infantile|Hemiplegia, Spastic|Hemiplegias, Post-Ictal|Hemiplegias, Spastic|Hemiplegias, Transient|Hemiplegia, Transient|Infantile Hemiplegia|Infantile Hemiplegias|Monoplegia|Monoplegias|Post-Ictal Hemiplegia|Post-Ictal Hemiplegias|Spastic Hemiplegia|Spastic Hemiplegias|Transient Hemiplegia|Transient Hemiplegias
C563564||Cerebelloparenchymal Disorder VI
C564895||Pericardial Effusion, Chronic|Cholesterol Pericarditis
D007757||Laboratory Infection|Infection, Laboratory|Infections, Laboratory|Laboratory Infections
C538150|212780||Syndactyly Cenani Lenz type|Cenani-Lenz Syndactyly|CENANI-LENZ SYNDACTYLY SYNDROME|Cenani-Lenz type syndactyly|Cenani syndactylism|CLSS|Syndactyly type 7|Syndactyly, Type VII
C563569||Coronary Artery Disease, Development of, in HIV
D006425||Hemic and Lymphatic Diseases
C564899||Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain
C537271||Fowler Christmas Chapple syndrome|Voiding dysfunction, and polycystic ovaries
D006423||Hemianopsia|Altidudinal Hemianopia|Altidudinal Hemianopias|Altitudinal Hemianopsia|Altitudinal Hemianopsias|Binasal Hemianopia|Binasal Hemianopias|Binasal Hemianopsia|Binasal Hemianopsias|Bitemporal Hemianopia|Bitemporal Hemianopias|Bitemporal Hemianopsia|Bitemporal Hemianopsias|Hemianopia|Hemianopia, Altidudinal|Hemianopia, Binasal|Hemianopia, Bitemporal|Hemianopia, Homonymous|Hemianopias|Hemianopias, Altidudinal|Hemianopias, Binasal|Hemianopias, Bitemporal|Hemianopias, Homonymous|Hemianopsia, Altitudinal|Hemianopsia, Binasal|Hemianopsia, Bitemporal|Hemianopsia, Homonymous|Hemianopsias|Hemianopsias, Altitudinal|Hemianopsias, Binasal|Hemianopsias, Bitemporal|Hemianopsias, Homonymous|Homonymous Hemianopia|Homonymous Hemianopias|Homonymous Hemianopsia|Homonymous Hemianopsias|Quadrantanopia|Quadrantanopias|Quadrantanopsia|Quadrantanopsias
C537272||Franceschini Vardeu Guala syndrome
D007752||Obstetric Labor, Premature|Labor, Premature|Labor, Premature Obstetric|Labor, Preterm|Premature Labor|Premature Obstetric Labor|Preterm Labor
C537270||Fountain syndrome|Mental retardation-deafnes, skeletal abnormalities, coarse face with full lips|Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, And Coarse Face With Full Lips
606240||THYROID CARCINOMA, NONMEDULLARY, SUSCEPTIBILITY TO, 1|NMTC1|NONMEDULLARY THYROID CARCINOMA 1
251450|C535943||Desbuquois syndrome|DBQD1|Desbuquois Dysplasia|DESBUQUOIS DYSPLASIA 1|DESBUQUOIS SYNDROME|Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification|MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION DESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED
D020739||Brain Diseases, Metabolic, Inborn|Brain Diseases, Metabolic, Familial|Brain Diseases, Metabolic, Inherited|Brain Syndrome, Metabolic, Inborn|Central Nervous System Inborn Metabolic Diseases|Central Nervous System Inborn Metabolic Disorders|CNS Metabolic Disorders, Inborn|Encephalopathies, Metabolic, Inborn|Familial Metabolic Brain Diseases|Familial Metabolic Disorders, Brain|Inborn Errors of Metabolism, Brain|Inborn Metabolic Brain Diseases|Inborn Metabolic Brain Disorders|Inborn Metabolic Disorders, Brain|Inherited Metabolic Brain Diseases|Inherited Metabolic Disorders, Brain|Metabolic Brain Diseases, Familial|Metabolic Brain Diseases, Inborn|Metabolic Brain Diseases, Inherited|Metabolic Brain Syndrome, Inborn|Metabolic Diseases, Inborn, Brain|Metabolic Diseases, Inborn, Central Nervous System|Metabolic Disorders, Brain, Inherited|Metabolic Disorders, CNS, Inborn|Metabolic Disorders, Familial, Brain
D018409||Foot Injuries|Foot Injury|Injuries, Foot|Injury, Foot
C566343|603689||Hereditary Myopathy with Early Respiratory Failure|Edstrom Myopathy|HMERF|MPRM|Myopathy, Proximal, with Early Respiratory Muscle Involvement
D018404||Isochromosomes|Isochromosome
C563654|610842||Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency|PXE-Like Disorder with Multiple Coagulation Factor Deficiency
C563570||Monophalangy of Great Toe
105200|C538249||Amyloidosis, familial visceral|Amyloidosis 8|Amyloidosis, familial renal|Amyloidosis, systemic nonneuropathic|Amyloidosis VIII|German type amyloidosis|Ostertag type amyloidosis
C567934|188570||Thyroid Hormone Resistance, Generalized, Autosomal Dominant|GRTH|GTHR|Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones|THYROID HORMONE UNRESPONSIVENESS
C537286||Gonadal dysgenesis XX type deafness|17-beta-hydroxysteroid dehydrogenase 4, deficiency of|Ovarian dysgenesis with sensorineural deafness|Peroxisomal bifunctional enzyme complex deficiency|Peroxisomal bifunctional enzyme deficiency|Perrault syndrome
C563573||Mitral Valve Prolapse, Myxomatous 1|Myxomatous Mitral Valve Prolapse 1
C537287||Goodman camptodactyly|Acrocephalopolysyndactyly type 4|Acrocephalopolysyndactyly Type IV|Goodman syndrome
D018420||Ape Diseases|Ape Disease|Disease, Ape|Disease, Pongidae|Diseases, Ape|Diseases, Pongidae|Pongidae Disease|Pongidae Diseases
C563572||Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones
C537284||GOMBO syndrome|Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia
239000||PAGET DISEASE, JUVENILE|HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS|HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC|HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC|JPD|JUVENILE PAGET DISEASE|OSTEOECTASIA, FAMILIAL
C563578||Myopathy, Cataract, Hypogonadism Syndrome|Ocular Myopathy with Hypogonadism
C563576||Progressive External Ophthalmoplegia With Hypogonadism
C537288||Gordon syndrome|Arthrogryposis, distal, type 3|Arthrogryposis multiplex congenita, distal, type 2a|Arthrogryposis Multiplex Congenita, Distal, Type IIa|Camptodactyly, cleft palate, and clubfoot|Distal arthrogryposis, type 3
C537289||Gorlin Bushkell Jensen syndrome
C567193|612717||Myopia 15|MYOPIA 15, AUTOSOMAL DOMINANT|MYP15
D007766||Lacrimal Apparatus Diseases|Apparatus Disease, Lacrimal|Apparatus Diseases, Lacrimal|Disease, Lacrimal Apparatus|Diseases, Lacrimal Apparatus|Epiphora|Lacrimal Apparatus Disease
D007767||Lacrimal Duct Obstruction|Duct Obstruction, Lacrimal|Duct Obstructions, Lacrimal|Lacrimal Duct Obstructions|Obstruction, Lacrimal Duct|Obstructions, Lacrimal Duct
D020721||Nervous System Autoimmune Disease, Experimental|Autoimmune Disease Models, Nervous System|Autoimmune Experimental Myositis|Autoimmune Myositis, Experimental|Disease Models, Autoimmune, Nervous System|Experimental Autoimmune Myositis|Experimental Myositis, Autoimmune|Myositis, Autoimmune Experimental|Myositis, Experimental Autoimmune|Nervous System Autoimmune Disease Models
C562656|233910||Hyperphenylalaninemia, BH4-Deficient, B|GTP Cyclohydrolase I Deficiency|GTP CYCLOHYDROLASE I DEFICIENCY DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED|HPABH4B|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP Cyclohydrolase I Deficiency
D020720||Myasthenia Gravis, Autoimmune, Experimental|Autoimmune Experimental Myasthenia Gravis|Experimental Autoimmune Myasthenia Gravis, Passive Transfer|Experimental Myasthenia|Experimental Myasthenia Gravis|Experimental Myasthenias|Myasthenia, Experimental|Myasthenia Gravis, Autoimmune Experimental|Myasthenia Gravis, Experimental|Myasthenia Gravis, Experimental Autoimmune|Myasthenias, Experimental|Passive Transfer Experimental Autoimmune Myasthenia Gravis
C537282||Goldstein Hutt syndrome|Long eyelashes, cataract, and hereditary spherocytosis|Trichomegaly, cataract, and hereditary spherocytosis
C537283||Gollop Coates syndrome|Bifurcation of distal humerus with oligoectro-syndactyly
D006431||Hemobilia|Biliary Tract Hemorrhage|Biliary Tract Hemorrhages|Hemobilias|Hemorrhage, Biliary Tract
D007762||Labyrinthitis|Labyrinthitides|Otitis Interna
C537280||Goldblatt Viljoen syndrome|Autosomal dominant radial ray hypoplasia syndrome|Goldblatt Viljoen radial ray hypoplasia|Radial ray hypoplasia with choanal hypoplasia
D018419||Primate Diseases|Disease, Primate|Diseases, Primate|Primate Disease
C563581||Microphthalmia, Isolated, With Corectopia|MCOPCR|Microphthalmia And Corectopia|Microphthalmia With Myopia And Corectopia
108900||ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS|ASD7|ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
D018410||Pneumonia, Bacterial|Bacterial Pneumonia|Bacterial Pneumonias|Pneumonias, Bacterial
C563580||Tauopathy and Respiratory Failure
C537297||Autosomal Dominant Lateral Temporal Lobe Epilepsy|Autosomal dominant partial epilepsy with auditory features|Epilepsy, Lateral Temporal Lobe, Autosomal Dominant|Epilepsy, Partial, With Auditory Features
C563540||Atrial Septal Defect 3
C564871||Progesterone Resistance|Pseudocorpus Luteum Insufficiency
C537298||Autosomal recessive nonsyndromic congenital nuclear cataract|Congenital nuclear cataract, autosomal recessive
C564870||Prolactin Deficiency with Obesity and Enlarged Testes
C537295||Granulomatous Angiitis of the Central Nervous System|Granulomatous Angiitis of CNS|Granulomatous angiitis of the nervous system
C537296||Granulosa cell tumor of the ovary|Adult granulosa cell tumor of the ovary|GCT of the ovary|Granulosa theca cell tumor|Granulosa theca cell tumor of the ovary
D006408||Hematoma, Subdural|Hematomas, Subdural|Hematomas, Traumatic Subdural|Hematoma, Traumatic Subdural|Hemorrhages, Subdural|Hemorrhage, Subdural|Subdural Hematoma|Subdural Hematomas|Subdural Hematomas, Traumatic|Subdural Hematoma, Traumatic|Subdural Hemorrhage|Subdural Hemorrhages|Traumatic Subdural Hematoma|Traumatic Subdural Hematomas
C563545||Continuous Muscle Fiber Activity, Hereditary
C564876||Polyhydramnios, Chronic Idiopathic|Lactogen Receptor Defect of Chorion
D006409||Hematometra|Hematometras
C563544||Myopathy, Centronuclear, Autosomal Dominant|Myotubular Myopathy, Autosomal Dominant
C564875||Bonneau Syndrome|Polysyndactyly with Cardiac Malformation
C537140|601101||Osler-rendu-weber syndrome 3|HHT3|Telangiectasia, hereditary hemorrhagic, type 3
D006406||Hematoma|Hematomas
C563543||Myopathy, Distal, with Onset in Infancy
C564874||Popliteal Pterygium Syndrome, Lethal Type|Aslan Multiple Pterygium Syndrome|Bartsocas-Papas Syndrome|Multiple Pterygium Syndrome, Aslan Type|Pterygium, Popliteal, Lethal Type
D006407||Hematoma, Epidural, Cranial|Cranial Epidural Hematoma|Cranial Epidural Hematomas|Cranial Epidural Hemorrhage|Cranial Epidural Hemorrhages|Cranial Extradural Hematoma|Cranial Extradural Hematomas|Cranial Extradural Hemorrhage|Cranial Extradural Hemorrhages|Epidural Hematoma, Cranial|Epidural Hematoma, Intracranial|Epidural Hematomas, Cranial|Epidural Hematomas, Intracranial|Epidural Hemorrhage, Cranial|Epidural Hemorrhages, Cranial|Extradural Hematoma, Cranial|Extradural Hematomas, Cranial|Extradural Hemorrhage, Cranial|Extradural Hemorrhages, Cranial|Hematoma, Cranial Epidural|Hematoma, Cranial Extradural|Hematoma, Epidural, Intracranial|Hematoma, Intracranial Epidural|Hematomas, Cranial Epidural|Hematomas, Cranial Extradural|Hematomas, Intracranial Epidural|Hemorrhage, Cranial Epidural|Hemorrhage, Cranial Extradural|Hemorrhages, Cranial Epidural|Hemorrhages, Cranial Extradural|Intracranial Epidural Hematoma|Intracranial Epidural Hematomas
C563542||Myopathy with Storage of Glycoproteins and Glycosaminoglycans
D007738||Kyphosis|Kyphoses
C564873||Prenatal Bowing
C563549||Myoclonus, Cerebellar Ataxia, and Deafness
C564879||Polyneuropathy, Mixed, of Early Onset
C537290||Gorlin Chaudhry Moss syndrome|Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|GCM syndrome|Gorlin-Chaudhry-Moss syndrome
D006402||Hematologic Diseases|Blood Disease|Blood Diseases|Disease, Blood|Disease, Hematologic|Disease, Hematological|Diseases, Blood|Diseases, Hematologic|Diseases, Hematological|Hematological Disease|Hematological Diseases|Hematologic Disease
D007733||Kyasanur Forest Disease|Disease, Kyasanur Forest|Forest Disease, Kyasanur
C564878||Polyglucosan Body Disease, Adult Form|Adult Polyglucosan Body Disease
C563546||Myoglobinuria, Autosomal Dominant
C564877||Polysaccharide, Storage of Unusual
C537293||Grant syndrome
D007732||Kwashiorkor|Kwashiorkors
C537294||Granulomas, congenital cerebral|Congenital cerebral granulomas
C537291||Gracile bone dysplasia|Habrodysplasia|Osteocraniosplenic syndrome|Osteocraniostenosis|Skeletal dysplasia, lethal, with gracile bones
C537292||Graham Boyle Troxell syndrome|Cystic hamartomata of lung and kidney
D005171|227600||Factor X Deficiency|Deficiencies, Factor X|Deficiency, Factor X|Deficiency, Stuart Prower|Deficiency, Stuart-Prower|Deficiency, Stuart Prower Factor|Deficiency, Stuart-Prower Factor|F10 DEFICIENCY|Factor X Deficiencies|Stuart Prower Deficiency|Stuart-Prower Deficiency|Stuart Prower Factor Deficiency|Stuart-Prower Factor Deficiency
C564767|274230||Thymoma, Familial|Thymic Neoplasia
D063926||Drug Hypersensitivity Syndrome|DRESS Syndrome|DRESS Syndromes|Drug Hypersensitivity Syndromes|Drug Reaction with Eosinophilia and Systemic Symptoms|Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome|Hypersensitivity Syndrome, Drug|Hypersensitivity Syndromes, Drug|Syndrome, Drug Hypersensitivity|Syndromes, Drug Hypersensitivity
C538208|176500||Dementia, familial British|Cerebral amyloid angiopathy, British type|Cerebral Amyloid Angiopathy, Itm2b-Related, 1|DEMENTIA, FAMILIAL BRITISH|FBD|Presenile dementia with spastic ataxia
C537437|608643||Aromatic amino acid decarboxylase deficiency|AADC DEFICIENCY|Aromatic L-amino acid decarboxylase deficiency|DDC DEFICIENCY|Dopa decarboxylase deficiency
607488|C538002||Dystonia 15, myoclonic|DYT15
C563552||Myasthenia, Limb-Girdle, Autoimmune|Myasthenia Gravis, Limb-Girdle
C564883||Pleoconial Myopathy with Salt Craving
C536109|237310||N-acetyl glutamate synthetase deficiency|Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency|N-Acetylglutamate Synthase Deficiency|N-Acetylglutamate Synthetase Deficiency|NAGS Deficiency
C564882||Polycystic Kidney, Cataract, and Congenital Blindness
C563550||Myoclonic Epilepsy, Hartung Type
C564881||Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
C564880||Polydactyly, Postaxial, with Dental and Vertebral Anomalies
D006417||Hematuria|Hematurias
C563554||Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
C564885||Plasma Clot Retraction Factor, Deficiency of
C563553||Muscular Hypoplasia, Congenital Universal, of Krabbe
C564884||Platelet Prostacyclin Receptor Defect|Vienna-Hietzing Defect
C563559||Muscular Atrophy, Malignant Neurogenic
C563558||Muscular Dystrophy, Barnes Type
D007744||Obstetric Labor Complications|Complication, Labor|Complication, Obstetric Labor|Complications, Labor|Complications, Obstetric Labor|Labor Complication|Labor Complication, Obstetric|Labor Complications|Labor Complications, Obstetric|Obstetric Labor Complication
101200|D000168||Acrocephalosyndactylia|Acrocephalosyndactylias|Acrocephalosyndactylies, Type 1|Acrocephalosyndactylies, Type 3|Acrocephalosyndactylies, Type I|Acrocephalosyndactylies, Type II|Acrocephalosyndactylies, Type III|Acrocephalosyndactylies, Type V|Acrocephalosyndactyly (Apert)|Acrocephalosyndactyly III|Acrocephalosyndactyly IIIs|Acrocephalosyndactyly, Type 1|Acrocephalosyndactyly, Type 3|Acrocephalosyndactyly, Type I|Acrocephalosyndactyly, Type II|Acrocephalosyndactyly, Type III|ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED|Acrocephalosyndactyly, Type V|Acrocephaly, Skull Asymmetry, and Mild Syndactyly|ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED|ACS1|ACS3|ACS I APERT-CROUZON DISEASE, INCLUDED|ACS III|ACS II, INCLUDED|Apert Crouzon Disease|Apert-Crouzon Disease|Apert Syndrome|BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED|Chotzen Syndrome|Craniofacial-Skeletal-Dermatologic Dysplasia|Disease, Apert-Crouzon|Dysostosis Craniofacialis with Hypertelorism|Kurczynski Casperson Syndrome|Noack Syndrome|Noack Syndromes|Pfeiffer Syndrome|Saethre Chotzen Syndrome|Saethre-Chotzen Syndrome|SCS|Syndactylic Oxycephalies|Syndactylic Oxycephaly|Syndrome, Apert|Syndrome, Chotzen|Syndrome, Kurczynski Casperson|Syndrome, Noack|Syndrome, Pfeiffer|Syndrome, Saethre-Chotzen|Syndromes, Noack|Type I Acrocephalosyndactylies|Type I Acrocephalosyndactyly|Type II Acrocephalosyndactylies|Type II Acrocephalosyndactyly|Type III Acrocephalosyndactyly|Type V Acrocephalosyndactylies|Type V Acrocephalosyndactyly|VOGT CEPHALODACTYLY, INCLUDED
D012148|102300||Restless Legs Syndrome|ACROMELALGIA, HEREDITARY|Disease, Willis Ekbom|Disease, Willis-Ekbom|EKBOM SYNDROME|PERIODIC LIMB MOVEMENTS IN SLEEP|Restless Legs|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7|Restless Leg Syndrome|RLS1|RLS2|RLS3|RLS4|RLS5|RLS6|RLS7|Syndrome, Restless Leg|Syndrome, Willis Ekbom|Syndrome, Willis-Ekbom|Syndrome, Wittmaack Ekbom|Syndrome, Wittmaack-Ekbom|Willis Ekbom Disease|Willis-Ekbom Disease|Willis Ekbom Syndrome|Willis-Ekbom Syndrome|Wittmaack Ekbom Syndrome|Wittmaack-Ekbom Syndrome
C565251|606187||Alzheimer Disease 7|AD7|Alzheimer Disease, Familial, 7
C535746|608104||Congenital disorder of glycosylation type 1H|CDG1H|CDGIh|CDG Ih|Congenital Disorder of Glycosylation, Type IH
300615|C563156||Brunner Syndrome
607596|C548069||Pontocerebellar Hypoplasia Type 1|PCH1|PCH1A|PONTOCEREBELLAR HYPOPLASIA, TYPE 1A|Pontocerebellar Hypoplasia With Anterior Horn Cell Disease|Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
102200|D049912||Growth Hormone-Secreting Pituitary Adenoma|Acromegaly Due To Pituitary Adenoma|ACROMEGALY DUE TO PITUITARY ADENOMA PITUITARY ADENOMA PREDISPOSITION, INCLUDED|Adenoma, Somatotroph|Adenomas, Somatotroph|FIPA, INCLUDED|FIS|GH Secreting Pituitary Adenoma|GH-Secreting Pituitary Adenoma|GH-Secreting Pituitary Adenomas|IFS|Isolated Familial Somatotropinoma|PAP, INCLUDED|PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED|Pituitary Adenoma, GH Secreting|Pituitary Adenoma, GH-Secreting|Pituitary Adenoma, Growth Hormone Secreting|Pituitary Adenoma, Growth Hormone-Secreting|Pituitary Adenomas, GH-Secreting|Pituitary Growth Hormone Secreting Adenoma|Pituitary Growth Hormone-Secreting Adenoma|SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED|Somatotroph Adenoma|Somatotroph Adenomas|Somatotrophinoma, Familial|Somatotropinoma, Familial Isolated
301590|C564457||Microphthalmia, Syndromic 4|ANOP1, FORMERLY|MCOPS4|Microphthalmia With Ankyloblepharon And Mental Retardation
C564890||Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
180100|C538365||Retinitis pigmentosa 1|RP1
C537231||Samson Viljoen syndrome
C537232||Sanderson Fraser syndrome|Proptosis, Robin association, clenched hands, and multiple abnormalities
300158||ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED|ACLLX|AMCX5, FORMERLY|ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY
C537230||Samson Gardner syndrome|Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia
C564854||Reese Retinal Dysplasia
C538567||Hyperinsulinism, autosomal recessive
C537235||Santos Mateus Leal syndrome|Hirschsprung disease, deafness and polydactyly
C563522||Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome|Duodenal Carcinoid Syndrome
C564853||Renal and Mullerian Duct Hypoplasia
D007718||Knee Injuries|Injuries, Knee|Injury, Knee|Knee Injury
C537233||Sandhaus Ben-Ami syndrome|Patella hypoplasia skeletal malformations
C537234||Sandifer syndrome|Sandifer&apos;s syndrome
C563527||Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
D007713||Klinefelter Syndrome|48,XXYY Syndrome|49,XXXXY Syndrome|Klinefelter&apos;s Syndrome|Klinefelters Syndrome|Klinefelter Syndromes|Klinefelter Syndromes, Variants|Klinefelter Syndrome, Variants|Syndrome, 48,XXYY|Syndrome, Klinefelter|Syndrome, Klinefelter&apos;s|Syndromes, 49,XXXXY|Syndromes, Klinefelter|Syndromes, Variants Klinefelter|Syndromes, XXY|Syndromes, Xxyy|Syndrome, Variants Klinefelter|Syndrome, XXY|Syndrome, Xxyy|Trisomies, XXY|Trisomy, XXY|XXXY Male|XXXY Males|XXY Syndrome|XXY Syndromes|XXY Trisomies|XXY Trisomy|Xxyy Syndrome|Xxyy Syndromes
C563526||Retinitis Pigmentosa 27
C564857||Radiculoneuropathy, Fatal Neonatal
D007714||Klippel-Feil Syndrome|Cervical Fusion Syndrome|Dystrophia Brevicollis Congenita|Dystrophia Brevicollis Congenitas|Klippel-Feil Sequence|Klippel Feil Syndrome|Syndrome, Klippel-Feil|Vertebral Cervical Fusion Syndrome
C564856||Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia
C563524||NF1 Microdeletion Syndrome
C535460|246700||Chylomicron retention disease|ANDD|Anderson Disease|Anderson Syndrome|CMRD|Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells|Lipid transport defect of intestine
D007710||Klebsiella Infections|Infection, Klebsiella|Infections, Klebsiella|Klebsiella Infection
C563529||Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
607364|C537653||Bartter syndrome, type 3|Bartter syndrome, classic|BARTTER SYNDROME, CLASSIC BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED
241410|C537157||Hypoparathyroidism-retardation-dysmorphism syndrome|HRD|HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY|Hypoparathyroidism with short stature, mental retardation, and seizures|Sanjad-Sakati syndrome
C537228||Salcedo syndrome|Glomerular basement membrane disease, nail-patella syndrome type|Nail patella like renal disease|Nail-Patella-Like Renal Disease
C537229||Sammartino De Crecchio Syndrome
C536602|604537||Amaurosis congenita of Leber, type 5|LCA5|Leber Congenital Amaurosis 5|Leber congenital amaurosis, type 5
C538558||Bilateral Kienbock&apos;s disease
C537226||Saito Kuba Tsuruta syndrome|Fibuloulnar aplasia or hypoplasia with renal abnormalities|Fibulo ulnar hypoplasia renal anomalies
C567649|613309||Diamond-Blackfan Anemia 10|DBA10
C538557||Renal cell carcinoma 1
C537227||Sakati syndrome|ACPS III|ACPS with Leg Hypoplasia|Acrocephalopolysyndactyly type 3|Acrocephalopolysyndactyly Type III|Sakati-Nyhan syndrome
608864||OROFACIAL CLEFT 6, SUSCEPTIBILITY TO|CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6|OFC6
C580095||Familial Osteochondritis Dissecans|Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis
C564833|268150||Rh-Null, Regulator Type|RH DEFICIENCY SYNDROME, INCLUDED|RHN|Rh-Null Disease|RH-NULL DISEASE, INCLUDED
C563530||Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult|Leigh Syndrome, Adult
C564861||Pygmy|Pygmy, African
C537242||Prosopagnosia, hereditary|Face blindness|Prosopagnosia, congenital
C537243||Prostate cancer, familial|Hereditary prostate cancer|Prostate Cancer, Hereditary, 1
C538572||Familial progressive supranuclear palsy
C537246||Hemiplegic migraine, familial type 2|Familial hemiplegic migraine, type 2|Migraine, familial hemiplegic, 2
C563533||Nasal Alar Collapse, Bilateral
C564864||Pseudouridinuria and Mental Defect
D007729||Kuru|Encephalopathy, Kuru|Kuru Encephalopathy
C537247||Hemochromatosis, type 2|Hemochromatosis, juvenile|Juvenile hemochromatosis
C564863||Pulmonary Bullae Causing Pneumothorax
C537244||Prostatic malacoplakia associated with prostatic abscess|Prostatic malacoplakia with prostatic and seminal vesicle abscess
C564862||Pulmonary Hypertension, Primary, Autosomal Recessive
C537245||Prostatic stromal proliferation of uncertain malignant potential
C564869||Pseudohermaphroditism, Female, with Skeletal Anomalies
D007724||Vulvar Lichen Sclerosus|Kraurosis Vulvae|Lichen Sclerosus of Vulva|Lichen Sclerosus, Vulvar|Sclerosus, Vulvar Lichen|Vulvae, Kraurosis|Vulva Lichen Sclerosus
C564868||Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency
D007725||Krukenberg Tumor|Carcinoma, Krukenberg|Krukenberg Carcinoma|Krukenberg&apos;s Tumor|Krukenbergs Tumor|Tumor, Krukenberg|Tumor, Krukenberg&apos;s
C563535||Myotonic Myopathy with Cylindrical Spirals
C564866||Acrootoocular Syndrome|Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies
C563991|600138||Retinitis Pigmentosa 11|RP11
C565237|606325||Heterotaxy, Visceral, 3, Autosomal|HTX3
608850||MACULAR DYSTROPHY, RETINAL, 3|MCDR3
608852||PULMONARY FUNCTION|LUNG FUNCTION, ACCELERATED RATE OF DECLINE IN, SMOKING-RELATED|PLF
C564520|300029||Retinitis Pigmentosa 3|Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women|Cone-Rod Degeneration, X-Linked|Retinitis Pigmentosa 15|RP15|RP3
C537239||Mengel Konigsmark syndrome|Conductive hearing loss and malformed low-set ears|Ear deformity and conductive hearing loss|Familial congenital moderate neural hearing loss
D019701||Hepatitis D, Chronic|Chronic Delta Hepatitides|Chronic Delta Hepatitis|Chronic Hepatitis D|Delta Hepatitides, Chronic|Delta Hepatitis, Chronic|Hepatitides, Chronic Delta|Hepatitis, Chronic Delta
C537238||Melhem Fahl syndrome|Fifteen dorsal vertebrae and rib pairs
C538585||Oral-facial-digital syndrome, type 2|Orofaciodigital syndrome 2
C537254||Hemorrhagic shock and encephalopathy syndrome
C563853|608808||Transposition of the Great Arteries, Dextro-Looped 1|D-TGA|DTGA1
300136||DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO|IDDMX|INSULIN-DEPENDENT DIABETES MELLITUS, X-LINKED, SUSCEPTIBILITY TO
C563501||Ophthalmomandibulomelic Dysplasia
C563500||Ophthalmoplegia, Familial Static|External Ophthalmoplegia, Congenital Hereditary Nonprogressive
C537258||Fibrolamellar hepatocellular carcinoma|Fibrolamellar variant of hepatocellular carcinoma|Hepatocellular carcinoma (fibrolamellar variant)
C538586||Hyperostosis frontalis interna, obesity, shortness and cognitive impairment
C537256||Vascular purpura
C563505||Olivopontocerebellar Atrophy V|OPCA with Dementia and Extrapyramidal Signs
C563503||Onycholysis, Partial, with Scleronychia
162400||NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA|HSAN1A|HSAN IA|HSN1A|HSN IA|NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A|NEUROPATHY, HEREDITARY SENSORY, TYPE IA
C563509||Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias|Blepharofacioskeletal Syndrome|Cleft Palate, Hypotelorism, and Hypospadias|Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias
C563508||Oculopharyngodistal Myopathy
C564839||Retinohepatoendocrinologic Syndrome
C564838||Retinopathy, Pericentral Pigmentary, Autosomal Recessive|Retinitis Pigmentosa, Pericentral
C537152|154020||Hypomagnesemia 2, renal|HOMG2|Magnesium loss, isolated renal|Magnesium wasting, renal
C563506||Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair
608840||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6|MDC1D|MDDGB6|MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED|MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
277300||SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE|COSTOVERTEBRAL DYSPLASIA|JARCHO-LEVIN SYNDROME|SCDO1|SPONDYLOTHORACIC DYSOSTOSIS|SPONDYLOTHORACIC DYSPLASIA|VERTEBRAL ANOMALIES
C536856|607152||Spastic paraplegia 19, autosomal dominant|SPG19
607514||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10|BMIQ10|OBESITY, SUSCEPTIBILITY TO
C580075||Familial Acute Myeloid Leukemia with Mutated Cebpa|Cebpa-Dependent Familial Acute Myeloid Leukemia|Familial Acute Myeloid Leukaemia
300143||MENTAL RETARDATION, X-LINKED 21|MENTAL RETARDATION, X-LINKED 34|MRX21|MRX34
D012288||Rickettsiaceae Infections|Infection, Rickettsiaceae|Infections, Rickettsiaceae|Rickettsiaceae Infection|Rickettsialpox
C538596||Peritoneal retractile mesenteritis
C538595||Mermaid syndrome|Fused legs and feet|Mermaid malformation|Sirenomelia sequence|Sirenomelus
300147||PROSTATE CANCER, HEREDITARY, X-LINKED 1|HPCX1|PCSX|PROSTATE CANCER SUSCEPTIBILITY, X-LINKED
C537263||Lamellar ichthyosis, autosomal dominant form|Autosomal-dominant lamellar ichthyosis|Ichthyosiform erythroderma, nonbullous, dominant form|Ichthyosis, Lamellar, Autosomal Dominant|Lamellar Ichthyosis, Autosomal Dominant|Lamellar ichthyosis, dominant
C563512||Noduli Cutanei, Multiple, with Urinary Tract Abnormalities
C537268||Formaldehyde poisoning|Formaldehyde Exposure|Formaldehyde Toxicity|Formalin Intoxication|Formalin Toxicity
C564842||Retinitis Pigmentosa Inversa with Deafness
611376|C548078||Mungan Syndrome|MGS|Pseudoobstruction, Chronic Idiopathic Intestinal, With Barrett Esophagus And Cardiac Abnormalities|Visceral Neuromyopathy, Familial, With Pseudoobstruction, Megaduodenum, Barrett Esophagus, And Cardiac Abnormalities
C567166|610532||Leukodystrophy, Hypomyelinating, 5|HLD5|Hypomyelination And Congenital Cataract|HYPOMYELINATION AND CONGENITAL CATARACT: HCC
C537269||Forney Robinson Pascoe syndrome|Congenital heart disease, deafness, and skeletal malformations
C564841||Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
C537266||Landy Donnai syndrome|Hydrops, ectrodactyly, syndactyly, duplication of the great toes
C564840||Retinitis Pigmentosa, Late-Adult Onset|Retinitis Pigmentosa, Senile
256731|C575534||Ceroid lipofuscinosis, neuronal 5|CEROID LIPOFUSCINOSIS, NEURONAL, 5|Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset|CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED|CLN5|Finnish VLINCL|FINNISH vLINCL, INCLUDED|Neuronal ceroid lipofuscinosis, 5|Neuronal ceroid lipofuscinosis, Finnish variant, late infantile|VLINCL
C563516||Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
C564847||Retinal Degeneration and Epilepsy
C563514||Hypertension Resistant to Conventional Therapy
D050336|253250||Mulibrey Nanism|Mulibrey Nanism Syndrome|Muscle Liver Brain Eye Nanism|Muscle-Liver-Brain-Eye Nanism|Nanism, Mulibrey|Nanism, Muscle-Liver-Brain-Eye|Nanism Syndrome, Mulibrey|Perheentupa Syndrome|PERICARDIAL CONSTRICTION AND GROWTH FAILURE|Syndrome, Mulibrey Nanism|Syndrome, Perheentupa
C564844||Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole
C537260||Hereditary koilonychia|Congenital koilonychia|Familial koilonychia|Koilonychia, Hereditary
C563519||Ganglioneuromatosis of the Alimentary Tract
C564849||Renal, Genital, and Middle Ear Anomalies
C538590||Necrotizing encephalopathy, infantile subacute, of Leigh|Leigh&apos;s necrotizing encephalopathy
C563517||Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
C564848||Respiratory Underresponsiveness to Hypoxia and Hypercapnia
D000130|100800||Achondroplasia|ACH|Achondroplasias|Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans|Dysplasia, SADDAN|Dysplasias, SADDAN|SADDAN|SADDAN Dysplasia|SADDAN Dysplasias|SADDANs|Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans|Skeleton Skin Brain Syndrome|Skeleton-Skin-Brain Syndrome|Skeleton-Skin-Brain Syndromes|Syndrome, Skeleton-Skin-Brain|Syndromes, Skeleton-Skin-Brain
D062625||Cystadenofibroma|Adenofibroma, Clear Cell|Adenofibromas, Clear Cell|Benign Clear Cell Adenofibroma|Benign Cystadenofibroma|Benign Cystadenofibromas|Borderline Clear Cell Adenofibroma|Borderline Cystadenofibroma|Borderline Cystadenofibromas|Clear Cell Adenofibroma|Clear Cell Adenofibromas|Cystadenofibroma, Benign|Cystadenofibroma, Borderline|Cystadenofibromas|Cystadenofibromas, Benign|Cystadenofibromas, Borderline
C580087||Familial Hyperaldosteronism
D012295||Rift Valley Fever|Fever, Rift Valley
D012298||Rigor Mortis|Mortis, Rigor
C580083||Familial Exudative Vitreoretinopathy
C538640||Limb-girdle muscular dystrophy autosomal recessive
C563600||Masticatory Muscles, Hypertrophy of|Masseter Muscle Hypertrophy
C564931||Oliver Syndrome|Postaxial Polydactyly and Mental Retardation
D012391||Root Resorption|Resorption, Root|Resorptions, Root|Root Resorptions
C564930||Olivopontocerebellar Atrophy II, Autosomal Recessive|OPCA II, Fickler-Winkler Type
C567757|613094||Microphthalmia, Isolated 4|MCOP4
C538641||Congenital facial linear porokeratosis
C565234|606348||Inflammatory Bowel Disease 5|IBD5
C563604||Cataract, Cortical Pulverulent, Late-Onset
C563603||Cataract, Polymorphic and Lamellar
C564934||Oculotrichodysplasia
C563602||Mannose-Binding Protein Deficiency|Mannose-Binding Lectin Deficiency|Mannose-Binding Lectin Protein Deficiency|MBL2 Deficiency|MBL Deficiency|MBP Deficiency
C563601||Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type|Phosphodiester Glycoside Deficiency
C563607||Macular Dystrophy, Fenestrated Sheen Type
C564938||Nystagmus, Congenital Motor, Autosomal Recessive
C564937||Ocular Myopathy with Curare Sensitivity
D061205||Vascular Calcification|Calcifications, Vascular|Calcification, Vascular|Calcinoses, Vascular|Calcinosis, Vascular|Vascular Calcifications|Vascular Calcinoses|Vascular Calcinosis
D061206||Neoplasm Micrometastasis|Micrometastase, Neoplasm|Micrometastases|Micrometastases, Neoplasm|Micrometastasis|Micrometastasis, Neoplasm|Neoplasm Micrometastase|Neoplasm Micrometastases
C537848|257320||Norman Roberts lissencephaly syndrome|LIS2|Lissencephaly 2|Lissencephaly syndrome, Norman-Roberts type|NORMAN-ROBERTS SYNDROME
D011668|265450||Pulmonary Veno-Occlusive Disease|Diseases, Pulmonary Veno-Occlusive|Pulmonary Venoocclusive Disease|Pulmonary Veno Occlusive Disease|PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT|Pulmonary Venoocclusive Diseases|Pulmonary Veno-Occlusive Diseases|PVOD|PVOD1|Venoocclusive Disease, Pulmonary|Veno Occlusive Disease, Pulmonary|Veno-Occlusive Disease, Pulmonary|Venoocclusive Diseases, Pulmonary|Veno-Occlusive Diseases, Pulmonary
D011052||Poliomyelitis, Bulbar|Bulbar Polio|Bulbar Poliomyelitis|Medullary Involvement Poliomyelitis|Polio, Bulbar|Poliomyelitis, Medullary Involvement
C538637||Autosomal dominant diffuse Lewy body disease
C537305||Groll Hirschowitz syndrome|Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy|Groll-Hirschowitz Syndrome
D011051||Poliomyelitis|Acute Poliomyelitis|Acute Poliomyelitis, Epidemic|Encephalitis, Polio|Epidemic Acute Poliomyelitis|Infantile Paralysis|Nonpoliovirus Poliomyelitis|Paralysis, Infantile|Polio|Polio Encephalitis|Poliomyelitides, Preparalytic|Poliomyelitis, Acute|Poliomyelitis, Epidemic Acute|Poliomyelitis, Nonpoliovirus|Poliomyelitis, Preparalytic|Polios|Preparalytic Poliomyelitis
C537835|136550||Macular dystrophy, retinal, 1, North Carolina type|CAPED|Central areolar pigment epithelial dystrophy|Foveal dystrophy, progressive|MCDR1|NCMD|North carolina macular dystrophy|Retinal pigment epithelial dystrophy, central
C538636||Familial Letterer-Siwe disease|Histiocytosis X, acute disseminated
C537306||Grover&apos;s disease|Grover disease|Transient Acantholytic Dermatosis
C580174||Huntington Disease-Like Syndrome|Huntington Disease-Like Syndromes|Huntington&apos;s Disease-Like Syndromes|Huntington&apos;s Disease Phenocopies|Huntington&apos;s Disease Phenocopy Syndromes
300244||TERMINAL OSSEOUS DYSPLASIA|ODPD|ODPF|ODPF SYNDROME|OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA|TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS|TOD|TODPD
C537320||Microcephalic osteodysplastic primordial dwarfism, type 3|Microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|Microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type|Microcephalic Osteodysplastic Primordial Dwarfism, Type III|MOPD III|Osteodysplastic primordial dwarfism, type 3|Osteodysplastic Primordial Dwarfism, Type III
D007805||Language Development Disorders|Auditory Processing Disorder, Central|Central Auditory Processing Disorder|Delay, Speech|Delays, Speech|Developmental Disorder, Speech or Language|Developmental Language Disorder|Developmental Language Disorders|Development Disorder, Language|Language Delay|Language Delays|Language Development Disorder|Language Disorder, Developmental|Language Disorders, Developmental|Semantic Pragmatic Disorder|Semantic-Pragmatic Disorder|Semantic-Pragmatic Disorders|Speech Delay|Speech Delays|Speech or Language, Developmental Disorder
C564942||Neutrophil Actin Dysfunction
C537323||Microcephaly autosomal dominant|Microcephaly, Autosomal Dominant|Microcephaly with autosomal dominant inheritance
C563610||Sebaceous Tumors, Somatic
D007806||Language Disorders|Acquired Language Disorder|Acquired Language Disorders|Language Disorder|Language Disorder, Acquired|Language Disorders, Acquired
C564941||Niemann-Pick Disease, Nova Scotian Type
C537321||Microcephalic primordial dwarfism Toriello type|Microcephalic primordial dwarfism and cataracts|Microcephalic Primordial Dwarfism, Toriello Type
C537322||Microcephaly albinism digital anomalies syndrome|Albinism-Microcephaly digital anomalies syndrome|Albinism-Microcephaly-Digital Anomalies Syndrome|Microcephaly-Albinism-Digital Anomalies Syndrome
C564946||Neuropathy, Hereditary Sensory, Atypical
C564945||Neuropathy, Painful
C563613||Lumbar Stenosis, Familial
C564944||Neurovisceral Storage Disease with Curvilinear Bodies
C563612||Lymphedema and Cerebral Arteriovenous Anomaly
C564943||Neutropenia, Lethal Congenital, with Eosinophilia
C563618||Lp(A) Deficiency, Congenital|Lipoprotein(A) Deficiency, Congenital
C537698|601553||Juvenile macular degeneration and hypotrichosis|HJMD|Hypotrichosis, congenital, with juvenile macular dystrophy|Hypotrichosis With Cone-Rod Dystrophy|Juvenile macular dystrophy and congenital hypotrichosis
C563617||Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia
C565210|610250||Spastic Paraplegia 31, Autosomal Dominant|SPG31
C564947||Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive|Charcot-Marie-Tooth Disease with Excessive Myelin Folding, Autosomal Recessive
C563873|608696||Glaucoma 1, Open Angle, K|Glaucoma, Primary Open Angle, Juvenile-Onset, 3|GLC1K|JOAG3
220600|C565647||Split-Hand/Foot Malformation With Sensorineural Hearing Loss|Deafness, Congenital, And Split Hands And Feet|DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET|SHFM1D|SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
C032598||heavy chain disease proteins, human
C538648||Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency
C535717|604484||Neuropathy, hereditary motor and sensory, Okinawa type|HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE|HMSNO|HMSNP|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
C538647||Myotubular myopathy, X-linked
C538646||High serum cholesterol, familial|Hyperlipidema, Familial|Hyperlipoproteinemia, type 2 A
D012393||Rosacea|Acne Rosacea|Erythematotelangiectatic Rosacea|Granulomatous Rosacea|Ocular Rosacea|Papulopustular Rosacea|Phymatous Rosacea|Rosacea, Erythematotelangiectatic|Rosacea, Granulomatous|Rosacea, Ocular|Rosacea, Papulopustular|Rosacea, Phymatous
C537318||Splenogonadal fusion limb defects micrognatia|Splenogonadal fusion limb defects syndrome|Splenogonadal Fusion Limb Defect Syndrome|Splenogonadal Fusion with Limb Defects and Micrognathia
C580182||Hyperparathyroidism-Jaw Tumor Syndrome|Familial Cystic Parathyroid Adenomatosis|Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas|Hereditary Hyperparathyroidism-Jaw Tumor Syndrome|Hpt-Jt
C537319||Split hand split foot nystagmus|Karsch-Neugebauer syndrome|Nystagmus-Split Hand Syndrome|Split hand nystagmus syndrome|Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
C538662||Recurrent trigger thumb|Bilateral trigger thumb|Congenital trigger thumb
C536130|606129||Anemia, Diamond-Blackfan, 2|DBA2|Diamond-Blackfan Anemia 2|Diamond-Blackfan Anemia, 2
D056734|158000||Monilethrix|Hair, Nodose|Hairs, Nodose|Monilethrices|Nodose Hair|Nodose Hairs
603902||BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE|DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
C536000||Acanthosis nigricans muscle cramps acral enlargement|Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
C536003||Accessory pancreas
C537334||Sideroblastic anemia, autosomal|Sideroblastic anemia, autosomal recessive inheritance
C538665||Watermelon stomach disease
C567462|300758||Hypospadias 2, X-Linked|Hysp2
C537335||Siegler Brewer Carey syndrome
C538664||PICA syndrome|Vertebral artery syndrome
C536001||Accessory deep peroneal nerve|Peroneal nerve, accessory deep
C537332||Sialuria, French type
C536002||Accessory navicular bone|Navicular Bone, Accessory
D061220||Oculomotor Nerve Injuries|Avulsion, Oculomotor Nerve|Avulsions, Oculomotor Nerve|Contusion, Oculomotor Nerve|Contusions, Oculomotor Nerve|Cranial Nerve III Injury|Injuries, Oculomotor Nerve|Injury, Cranial Nerve III|Injury, Oculomotor Nerve|Injury, Third Cranial Nerve|Nerve Avulsion, Oculomotor|Nerve Avulsions, Oculomotor|Nerve Contusion, Oculomotor|Nerve Contusions, Oculomotor|Nerve Injuries, Oculomotor|Nerve Injury, Oculomotor|Nerve Transection, Oculomotor|Nerve Transections, Oculomotor|Nerve Trauma, Oculomotor|Nerve Traumas, Oculomotor|Neuropathies, Traumatic Oculomotor|Neuropathy, Traumatic Oculomotor|Oculomotor Nerve Avulsion|Oculomotor Nerve Avulsions|Oculomotor Nerve Contusion|Oculomotor Nerve Contusions|Oculomotor Nerve Injury|Oculomotor Nerve Transection|Oculomotor Nerve Transections|Oculomotor Nerve Trauma|Oculomotor Nerve Traumas|Oculomotor Neuropathies, Traumatic|Oculomotor Neuropathy, Traumatic|Palsies, Traumatic Third-Nerve|Palsy, Traumatic Third-Nerve|Third Cranial Nerve Injuries|Third Cranial Nerve Injury|Third-Nerve Palsies, Traumatic|Third Nerve Palsy, Traumatic|Third-Nerve Palsy, Traumatic|Third Nerve Trauma|Third-Nerve Trauma|Third-Nerve Traumas|Transection, Oculomotor Nerve|Transections, Oculomotor Nerve|Trauma, Oculomotor Nerve|Traumas, Oculomotor Nerve|Traumas, Third-Nerve|Trauma, Third-Nerve|Traumatic Oculomotor Neuropathies|Traumatic Oculomotor Neuropathy|Traumatic Third-Nerve Palsies|Traumatic Third Nerve Palsy|Traumatic Third-Nerve Palsy
C564912||Otoonychoperoneal Syndrome
D000382||Agricultural Workers&apos; Diseases|Agricultural Worker Disease|Agricultural Worker Diseases|Agricultural Worker&apos;s Disease|Agricultural Workers Disease|Agricultural Workers&apos; Disease|Agricultural Worker&apos;s Diseases|Agricultural Workers Diseases|Disease, Agricultural Worker|Disease, Agricultural Worker&apos;s|Disease, Agricultural Workers&apos;|Diseases, Agricultural Worker|Diseases, Agricultural Worker&apos;s|Diseases, Agricultural Workers&apos;|Worker Disease, Agricultural|Worker Diseases, Agricultural|Worker&apos;s Disease, Agricultural|Workers&apos; Disease, Agricultural|Worker&apos;s Diseases, Agricultural|Workers&apos; Diseases, Agricultural
D061221||Trigeminal Nerve Injuries|Avulsions, Trigeminal Nerve|Avulsion, Trigeminal Nerve|Contusions, Trigeminal Nerve|Contusion, Trigeminal Nerve|Cranial Nerve V Injury|Fifth Cranial Nerve Injuries|Fifth Cranial Nerve Injury|Fifth-Nerve Palsies, Traumatic|Fifth Nerve Palsy, Traumatic|Fifth-Nerve Palsy, Traumatic|Fifth Nerve Trauma|Fifth-Nerve Trauma|Fifth-Nerve Traumas|Injuries, Trigeminal Nerve|Injury, Cranial Nerve V|Injury, Fifth Cranial Nerve|Injury, Trigeminal Nerve|Nerve Avulsions, Trigeminal|Nerve Avulsion, Trigeminal|Nerve Contusions, Trigeminal|Nerve Contusion, Trigeminal|Nerve Injuries, Trigeminal|Nerve Injury, Trigeminal|Nerve Transections, Trigeminal|Nerve Transection, Trigeminal|Nerve Traumas, Trigeminal|Nerve Trauma, Trigeminal|Neuropathies, Traumatic Trigeminal|Neuropathy, Traumatic Trigeminal|Palsies, Traumatic Fifth-Nerve|Palsy, Traumatic Fifth-Nerve|Transections, Trigeminal Nerve|Transection, Trigeminal Nerve|Trauma, Fifth-Nerve|Traumas, Fifth-Nerve|Traumas, Trigeminal Nerve|Traumatic Fifth-Nerve Palsies|Traumatic Fifth Nerve Palsy|Traumatic Fifth-Nerve Palsy|Traumatic Trigeminal Neuropathies|Traumatic Trigeminal Neuropathy|Trauma, Trigeminal Nerve|Trigeminal Nerve Avulsion|Trigeminal Nerve Avulsions|Trigeminal Nerve Contusion|Trigeminal Nerve Contusions|Trigeminal Nerve Injury|Trigeminal Nerve Transection|Trigeminal Nerve Transections|Trigeminal Nerve Trauma|Trigeminal Nerve Traumas|Trigeminal Neuropathies, Traumatic|Trigeminal Neuropathy, Traumatic
D000381||Agraphia|Acquired Agraphia|Acquired Agraphias|Acquired Dysgraphia|Acquired Dysgraphias|Agraphia, Acquired|Agraphia, Constructional|Agraphia, Developmental|Agraphia, Pure|Agraphias|Agraphias, Acquired|Agraphias, Constructional|Agraphias, Developmental|Agraphias, Pure|Constructional Agraphia|Constructional Agraphias|Developmental Agraphia|Developmental Agraphias|Developmental Dysgraphia|Developmental Dysgraphias|Dysgraphia|Dysgraphia, Acquired|Dysgraphia, Developmental|Dysgraphias|Dysgraphias, Acquired|Dysgraphias, Developmental|Pure Agraphia|Pure Agraphias
D061222||Lingual Nerve Injuries|Contusion, Lingual Nerve|Contusions, Lingual Nerve|Injuries, Lingual Nerve|Injury, Lingual Nerve|Lingual Nerve Contusion|Lingual Nerve Contusions|Lingual Nerve Injury|Lingual Nerve Transection|Lingual Nerve Transections|Lingual Neuropathy, Traumatic|Nerve Contusion, Lingual|Nerve Contusions, Lingual|Nerve Injuries, Lingual|Nerve Injury, Lingual|Nerve Transection, Lingual|Nerve Transections, Lingual|Transection, Lingual Nerve|Transections, Lingual Nerve
C564910||Pallidal Degeneration, Progressive, with Retinitis Pigmentosa
D061223||Vagus Nerve Injuries|Avulsions, Vagus Nerve|Avulsion, Vagus Nerve|Contusions, Vagus Nerve|Contusion, Vagus Nerve|Cranial Nerve X Injury|Injuries, Vagus Nerve|Injury, Cranial Nerve X|Injury, Tenth Cranial Nerve|Injury, Vagus Nerve|Nerve Avulsions, Vagus|Nerve Avulsion, Vagus|Nerve Contusions, Vagus|Nerve Contusion, Vagus|Nerve Injuries, Vagus|Nerve Injury, Vagus|Nerve Transections, Vagus|Nerve Transection, Vagus|Nerve Traumas, Vagus|Nerve Trauma, Vagus|Neuropathies, Traumatic Vagus|Neuropathy, Traumatic Vagus|Palsies, Traumatic Tenth-Nerve|Palsy, Traumatic Tenth-Nerve|Tenth Cranial Nerve Injuries|Tenth Cranial Nerve Injury|Tenth-Nerve Palsies, Traumatic|Tenth Nerve Palsy, Traumatic|Tenth-Nerve Palsy, Traumatic|Tenth Nerve Trauma|Tenth-Nerve Trauma|Tenth-Nerve Traumas|Transections, Vagus Nerve|Transection, Vagus Nerve|Traumas, Tenth-Nerve|Traumas, Vagus Nerve|Trauma, Tenth-Nerve|Traumatic Tenth-Nerve Palsies|Traumatic Tenth Nerve Palsy|Traumatic Tenth-Nerve Palsy|Traumatic Vagus Neuropathies|Traumatic Vagus Neuropathy|Trauma, Vagus Nerve|Vagus Nerve Avulsion|Vagus Nerve Avulsions|Vagus Nerve Contusion|Vagus Nerve Contusions|Vagus Nerve Injury|Vagus Nerve Transection|Vagus Nerve Transections|Vagus Nerve Trauma|Vagus Nerve Traumas|Vagus Neuropathies, Traumatic|Vagus Neuropathy, Traumatic
C564917||Osteoma of Middle Ear
D000387||Ainhum|Dactylolyses, Spontaneous|Dactylolysis Spontanea|Dactylolysis, Spontaneous|Spontaneous Dactylolyses|Spontaneous Dactylolysis
C567672|608980||Bifid Nose With Or Without Anorectal And Renal Anomalies|BNAR
D061224||Laryngeal Nerve Injuries|Avulsion, Laryngeal Nerve|Avulsions, Laryngeal Nerve|Contusion, Laryngeal Nerve|Contusions, Laryngeal Nerve|Injuries, Laryngeal Nerve|Injury, Laryngeal Nerve|Laryngeal Nerve Avulsion|Laryngeal Nerve Avulsions|Laryngeal Nerve Contusion|Laryngeal Nerve Contusions|Laryngeal Nerve Injury|Laryngeal Nerve Transection|Laryngeal Nerve Transections|Laryngeal Nerve Trauma|Laryngeal Nerve Traumas|Laryngeal Neuropathies, Traumatic|Laryngeal Neuropathy, Traumatic|Nerve Avulsion, Laryngeal|Nerve Avulsions, Laryngeal|Nerve Contusion, Laryngeal|Nerve Contusions, Laryngeal|Nerve Injuries, Laryngeal|Nerve Injury, Laryngeal|Nerve Transection, Laryngeal|Nerve Transections, Laryngeal|Nerve Trauma, Laryngeal|Nerve Traumas, Laryngeal|Neuropathies, Traumatic Laryngeal|Neuropathy, Traumatic Laryngeal|Transection, Laryngeal Nerve|Transections, Laryngeal Nerve|Trauma, Laryngeal Nerve|Traumas, Laryngeal Nerve|Traumatic Laryngeal Neuropathies|Traumatic Laryngeal Neuropathy
C564916||Osteomalacia, Sclerosing, with Cerebral Calcification
D000386||AIDS-Related Complex|AIDS Related Complex|ARC|Complex, AIDS-Related|Lymphadenopathy Syndrome|Lymphadenopathy Syndromes|Syndrome, Lymphadenopathy|Syndromes, Lymphadenopathy
D061226||Recurrent Laryngeal Nerve Injuries|Recurrent Laryngeal Nerve Contusion|Recurrent Laryngeal Nerve Injury|Recurrent Laryngeal Nerve Transection|Recurrent Laryngeal Nerve Trauma|Recurrent Laryngeal Neuropathy, Traumatic
D061227||Accessory Nerve Injuries|Accessory Nerve Avulsion|Accessory Nerve Avulsions|Accessory Nerve Contusion|Accessory Nerve Contusions|Accessory Nerve Injury|Accessory Nerve Transection|Accessory Nerve Transections|Accessory Nerve Trauma|Accessory Nerve Traumas|Accessory Neuropathies, Traumatic|Accessory Neuropathy, Traumatic|Avulsion, Accessory Nerve|Avulsions, Accessory Nerve|Contusion, Accessory Nerve|Contusions, Accessory Nerve|Cranial Nerve XI Injury|Eleventh Cranial Nerve Injuries|Eleventh Cranial Nerve Injury|Eleventh-Nerve Palsies, Traumatic|Eleventh Nerve Palsy, Traumatic|Eleventh-Nerve Palsy, Traumatic|Eleventh Nerve Trauma|Eleventh-Nerve Trauma|Eleventh-Nerve Traumas|Injuries, Accessory Nerve|Injury, Accessory Nerve|Injury, Cranial Nerve XI|Injury, Eleventh Cranial Nerve|Nerve Avulsion, Accessory|Nerve Avulsions, Accessory|Nerve Contusion, Accessory|Nerve Contusions, Accessory|Nerve Injuries, Accessory|Nerve Injury, Accessory|Nerve Transection, Accessory|Nerve Transections, Accessory|Nerve Trauma, Accessory|Nerve Traumas, Accessory|Neuropathies, Traumatic Accessory|Neuropathy, Traumatic Accessory|Palsies, Traumatic Eleventh-Nerve|Palsy, Traumatic Eleventh-Nerve|Spinal Accessory Nerve Avulsion|Spinal Accessory Nerve Contusion|Spinal Accessory Nerve Injury|Spinal Accessory Nerve Transection|Spinal Accessory Nerve Trauma|Spinal Accessory Neuropathy, Traumatic|Transection, Accessory Nerve|Transections, Accessory Nerve|Trauma, Accessory Nerve|Trauma, Eleventh-Nerve|Traumas, Accessory Nerve|Traumas, Eleventh-Nerve|Traumatic Accessory Neuropathies|Traumatic Accessory Neuropathy|Traumatic Eleventh-Nerve Palsies|Traumatic Eleventh Nerve Palsy|Traumatic Eleventh-Nerve Palsy
C567190||Keratosis, Familial Actinic
D061228||Hypoglossal Nerve Injuries|Avulsion, Hypoglossal Nerve|Avulsions, Hypoglossal Nerve|Contusion, Hypoglossal Nerve|Contusions, Hypoglossal Nerve|Cranial Nerve XII Injury|Hypoglossal Nerve Avulsion|Hypoglossal Nerve Avulsions|Hypoglossal Nerve Contusion|Hypoglossal Nerve Contusions|Hypoglossal Nerve Injury|Hypoglossal Nerve Transection|Hypoglossal Nerve Transections|Hypoglossal Nerve Trauma|Hypoglossal Nerve Traumas|Hypoglossal Neuropathies, Traumatic|Hypoglossal Neuropathy, Traumatic|Injuries, Hypoglossal Nerve|Injury, Cranial Nerve XII|Injury, Hypoglossal Nerve|Injury, Twelfth Cranial Nerve|Nerve Avulsion, Hypoglossal|Nerve Avulsions, Hypoglossal|Nerve Contusion, Hypoglossal|Nerve Contusions, Hypoglossal|Nerve Injuries, Hypoglossal|Nerve Injury, Hypoglossal|Nerve Transection, Hypoglossal|Nerve Transections, Hypoglossal|Nerve Trauma, Hypoglossal|Nerve Traumas, Hypoglossal|Neuropathies, Traumatic Hypoglossal|Neuropathy, Traumatic Hypoglossal|Palsies, Traumatic Twelfth-Nerve|Palsy, Traumatic Twelfth-Nerve|Transection, Hypoglossal Nerve|Transections, Hypoglossal Nerve|Trauma, Hypoglossal Nerve|Traumas, Hypoglossal Nerve|Traumas, Twelfth-Nerve|Traumatic Hypoglossal Neuropathies|Traumatic Hypoglossal Neuropathy|Traumatic Twelfth-Nerve Palsies|Traumatic Twelfth Nerve Palsy|Traumatic Twelfth-Nerve Palsy|Trauma, Twelfth-Nerve|Twelfth Cranial Nerve Injuries|Twelfth Cranial Nerve Injury|Twelfth-Nerve Palsies, Traumatic|Twelfth Nerve Palsy, Traumatic|Twelfth-Nerve Palsy, Traumatic|Twelfth Nerve Trauma|Twelfth-Nerve Trauma|Twelfth-Nerve Traumas
C567816|613008||Biliary Cirrhosis, Primary, 3|PBC3
D011030||Pneumothorax|Pneumothorax, Pressure|Pneumothorax, Spontaneous|Pneumothoraxs, Pressure|Pneumothoraxs, Primary Spontaneous|Pneumothoraxs, Spontaneous|Pneumothoraxs, Tension|Pneumothorax, Tension|Pressure Pneumothorax|Pressure Pneumothoraxs|Primary Spontaneous Pneumothorax|Primary Spontaneous Pneumothoraxs|Spontaneous Pneumothorax|Spontaneous Pneumothorax, Primary|Spontaneous Pneumothoraxs|Spontaneous Pneumothoraxs, Primary|Tension Pneumothorax|Tension Pneumothoraxs
C567198||Microcephaly, Primary Autosomal Recessive, 7
C537327||SHORT syndrome|Lipodystrophy, Partial, With Rieger Anomaly, And Short Stature
C538657||Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome|Mende Syndrome|Ptosis-Epicanthus Syndrome
C537325||Microcephaly cervical spine fusion anomalies|Microcephaly, mild mental retardation, short stature, and skeletal anomalies|Microcephaly with Cervical Spine Fusion Anomalies
C567199||Kallmann Syndrome 6
C537326||Microcephaly deafness syndrome|Kawashima tsuji syndrome|Microcephaly-Deafness Syndrome|Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies
C580150||Hereditary Diffuse Leukoencephalopathy with Spheroids|Adult-Onset Leukodystrophy with Neuroaxonal Spheroids|Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids|Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids|Neuroaxonal Leukodystrophy
C567513|611820||Long Qt Syndrome 11|LQT11
C537329||Shprintzen omphalocele syndrome|Laryngeal and pharyngeal hypoplasia with omphalocele|Pharynx and larynx hypoplasia with omphalocele|Shprintzen-Goldberg omphalocele syndrome
607501|D020326||Migraine without Aura|Common Migraine|Common Migraines|MGOA|MGR4|Migraine, Common|Migraines, Common|MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4
C536010||Achalasia microcephaly|Achalasia microcephaly syndrome|Achalasia-Microcephaly Syndrome
C537341||Singh Chhaparwal Dhanda syndrome
C538670||X-linked infantile spasm syndrome|Early Infantile Epileptic Encephalopathy|X-linked infantile spasms|X-Linked West Syndrome
C538676||Melanodermic leukodystrophy|Addison disease and cerebral sclerosis|Bronze Schilder disease|Siemerling-Creutzfeldt disease
C537346||Mesangial sclerosis, diffuse|Diffuse isolated mesangial sclerosis|Diffuse mesangial sclerosis|Familial mesangial sclerosis|Isolated diffuse mesangial sclerosis|Mesangial Sclerosis, Familial|Mesangial Sclerosis, Isolated Diffuse|Nephrotic syndrome, early onset with diffuse mesangial sclerosis|Nephrotic Syndrome, Early-Onset, With Diffuse Mesangial Sclerosis
C536012||Achard syndrome|Arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet|Dysostoses and increased ligament laxity
C536013||Achard-Thiers syndrome|Adenoma associated virilism of older women|Bearded female with diabetes|Diabetes in bearded women|Diabetic-bearded woman syndrome
C537344||Sinonasal undifferentiated carcinoma
C564923||Osteodysplasia, Familial, Anderson Type
C567384|612244||Inflammatory Bowel Disease 13|IBD13
C564992|136900||Fundus Dystrophy, Pseudoinflammatory, Of Sorsby|Macular Dystrophy, Hemorrhagic|SFD
C564922||Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
C564927||Ophthalmoplegia Totalis with Ptosis and Miosis
D024343||Open Bite|Apertognathia|Bite, Open|Nonocclusion|Openbite
C564925||Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
C565315|605598||Diabetes Mellitus, Insulin-Dependent, 18|IDDM18|Insulin-Dependent Diabetes Mellitus 18
D061218||Depressive Disorder, Treatment-Resistant|Depression, Refractory|Depressions, Refractory|Depressions, Therapy-Resistant|Depressions, Treatment Resistant|Depression, Therapy-Resistant|Depression, Treatment Resistant|Depressive Disorders, Treatment-Resistant|Depressive Disorder, Treatment Resistant|Disorders, Treatment-Resistant Depressive|Disorder, Treatment-Resistant Depressive|Refractory Depression|Refractory Depressions|Resistant Depressions, Treatment|Resistant Depression, Treatment|Therapy Resistant Depression|Therapy-Resistant Depression|Therapy-Resistant Depressions|Treatment Resistant Depression|Treatment Resistant Depressions|Treatment-Resistant Depressive Disorder|Treatment-Resistant Depressive Disorders
D061219||Olfactory Nerve Injuries|Avulsion, Olfactory Nerve|Avulsions, Olfactory Nerve|Contusion, Olfactory Nerve|Contusions, Olfactory Nerve|Cranial Nerve I Injury|First Cranial Nerve Injuries|First Cranial Nerve Injury|First-Nerve Palsies, Traumatic|First Nerve Palsy, Traumatic|First-Nerve Palsy, Traumatic|First Nerve Trauma|First-Nerve Trauma|First-Nerve Traumas|Injuries, Olfactory Nerve|Injury, Cranial Nerve I|Injury, First Cranial Nerve|Injury, Olfactory Nerve|Nerve Avulsion, Olfactory|Nerve Avulsions, Olfactory|Nerve Contusion, Olfactory|Nerve Contusions, Olfactory|Nerve Injuries, Olfactory|Nerve Injury, Olfactory|Nerve Transection, Olfactory|Nerve Transections, Olfactory|Nerve Trauma, Olfactory|Nerve Traumas, Olfactory|Neuropathies, Traumatic Olfactory|Neuropathy, Traumatic Olfactory|Olfactory Nerve Avulsion|Olfactory Nerve Avulsions|Olfactory Nerve Contusion|Olfactory Nerve Contusions|Olfactory Nerve Injury|Olfactory Nerve Transection|Olfactory Nerve Transections|Olfactory Nerve Trauma|Olfactory Nerve Traumas|Olfactory Neuropathies, Traumatic|Olfactory Neuropathy, Traumatic|Palsies, Traumatic First-Nerve|Palsy, Traumatic First-Nerve|Transection, Olfactory Nerve|Transections, Olfactory Nerve|Trauma, First-Nerve|Trauma, Olfactory Nerve|Traumas, First-Nerve|Traumas, Olfactory Nerve|Traumatic First-Nerve Palsies|Traumatic First Nerve Palsy|Traumatic First-Nerve Palsy|Traumatic Olfactory Neuropathies|Traumatic Olfactory Neuropathy
C536974|107480||Townes-Brocks syndrome|Anal-Ear-Renal-Radial Malformation Syndrome|Anus, Imperforate, with Hand, Foot, and Ear Anomalies|Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome|Deafness, sensorineural, with imperforate anus and hypoplastic thumbs|Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies|DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED|Imperforate Anus-Hand and Foot Anomalies Syndrome|REAR syndrome|Renal-ear-anal-radial syndrome|Renal-Ear-Anal-Radial Syndrome (Rear)|Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome|TBS|Townes Syndrome
D011041||Poisoning|Poisonings
D012373||Rocky Mountain Spotted Fever|Sao Paulo Typhus|Typhus, Sao Paulo
C537338||Sillence syndrome|Brachydactyly-distal symphalangism syndrome
D011040||Dermatitis, Toxicodendron|Dermatitides, Poison Ivy|Dermatitides, Rhus|Dermatitides, Toxicodendron|Dermatitis, Poison Ivy|Dermatitis, Rhus|Poison Ivy Dermatitides|Poison Ivy Dermatitis|Rhus Dermatitides|Rhus Dermatitis|Toxicodendron Dermatitides|Toxicodendron Dermatitis
C538013|208920||Early-onset ataxia with oculomotor apraxia and hypoalbuminemia|AOA|AOA1|Ataxia, Adult-Onset, With Oculomotor Apraxia|Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia|Ataxia-oculomotor apraxia 1|Ataxia-oculomotor apraxia syndrome|Ataxia-telangiectasia-like syndrome|Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia|CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA;EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED|EAOH|Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia|Early-onset cerebellar ataxia with hypoalbuminemia
C538669||Alcohol induced encephalopathy|Korsakoff&apos;s amnesic syndrome|Transketolase defect
C537339||Simosa cranio facial syndrome|Simosa craniofacial syndrome
C536005||Cytosolic acetoacetyl-CoA thiolase deficiency|Acat2 Deficiency|Acetocoenzyme A acetyltransferase 2 deficiency|Acetyl-coa acetyltransferase 2 deficiency
C537336||Silengo Lerone Pelizza syndrome
C538667||Midline granulomatosis
C536006||Acetylcarnitine deficiency
C537337||Silicosiderosis|Hematite pneumoconiosis|Iron miners lung
D011045||Poland Syndrome|Anomaly, Poland|Poland Anomaly|Poland Sequence|Poland Syndactyly|Syndactyly, Poland|Syndrome, Poland
C580162||Hereditary Sensory and Autonomic Neuropathy Type Ie|Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy|Hereditary Sensory and Autonomic Neuropathy Type 1 with Dementia and Hearing Loss|Hereditary Sensory Neuropathy Type Ie|Hsnie|Hsn Ie
C563714|609464||Sarcoidosis, Early-Onset|EOS
D012376||Rodent Diseases|Disease, Rodent|Diseases, Rodent|Rodent Disease
105150|D028243||Cerebral Amyloid Angiopathy, Familial|Amyloidosis, Cerebroarterial, Icelandic Type|Amyloidosis, Icelandic Type|Amyloidosis VI|Amyloidosis VIs|Autosomal Dominant Cerebrovascular Amyloidosis|Cerebral Amyloid Angiopathy, Cst3 Related|Cerebral Amyloid Angiopathy, Cst3-Related|Cerebral Amyloid Angiopathy, Genetic|Cerebral Amyloid Angiopathy, Hereditary|Cerebral Hemorrhage, Hereditary, With Amyloidosis|Dutch Type Hereditary Cerebral Amyloid Angiopathy|Familial Cerebral Amyloid Angiopathy|HCHWA|Hereditary Cerebral Amyloid Angiopathy|Hereditary Cerebral Amyloid Angiopathy, Dutch Type|Hereditary Cerebral Amyloid Angiopathy, Icelandic Type|Hereditary Cerebral Hemorrhage With Amyloidosis|Icelandic Type Amyloidosis|Icelandic Type Hereditary Cerebral Amyloid Angiopathy
C564685|606658||Spinocerebellar Ataxia 15|SCA16, FORMERLY|SPINOCEREBELLAR ATAXIA 15;SCA15 SPINOCEREBELLAR ATAXIA 16, FORMERLY
C567168||Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
D061247||Trochlear Nerve Injuries|Avulsions, Trochlear Nerve|Avulsion, Trochlear Nerve|Contusions, Trochlear Nerve|Contusion, Trochlear Nerve|Cranial Nerve IV Injury|Fourth Cranial Nerve Injuries|Fourth Cranial Nerve Injury|Fourth-Nerve Palsies, Traumatic|Fourth Nerve Palsy, Traumatic|Fourth-Nerve Palsy, Traumatic|Fourth Nerve Trauma|Fourth-Nerve Trauma|Fourth-Nerve Traumas|Injuries, Trochlear Nerve|Injury, Cranial Nerve IV|Injury, Fourth Cranial Nerve|Injury, Trochlear Nerve|Nerve Avulsions, Trochlear|Nerve Avulsion, Trochlear|Nerve Contusions, Trochlear|Nerve Contusion, Trochlear|Nerve Injuries, Trochlear|Nerve Injury, Trochlear|Nerve Transections, Trochlear|Nerve Transection, Trochlear|Nerve Traumas, Trochlear|Nerve Trauma, Trochlear|Neuropathies, Traumatic Trochlear|Neuropathy, Traumatic Trochlear|Palsies, Traumatic Fourth-Nerve|Palsy, Traumatic Fourth-Nerve|Transections, Trochlear Nerve|Transection, Trochlear Nerve|Trauma, Fourth-Nerve|Traumas, Fourth-Nerve|Traumas, Trochlear Nerve|Traumatic Fourth-Nerve Palsies|Traumatic Fourth Nerve Palsy|Traumatic Fourth-Nerve Palsy|Traumatic Trochlear Neuropathies|Traumatic Trochlear Neuropathy|Trauma, Trochlear Nerve|Trochlear Nerve Avulsion|Trochlear Nerve Avulsions|Trochlear Nerve Contusion|Trochlear Nerve Contusions|Trochlear Nerve Injury|Trochlear Nerve Transection|Trochlear Nerve Transections|Trochlear Nerve Trauma|Trochlear Nerve Traumas|Trochlear Neuropathies, Traumatic|Trochlear Neuropathy, Traumatic
D011016||Pneumonia, Atypical Interstitial, of Cattle|Adenomatoses, Bovine Pulmonary|Adenomatosis, Bovine Pulmonary|Adenomatosis, Pulmonary, Bovine|Atypical Interstitial Pneumonia of Cattle|Bovine Pulmonary Adenomatoses|Bovine Pulmonary Adenomatosis|Emphysema, Acute Bovine Pulmonary|Fever, Fog|Fog Fever|Pulmonary Adenomatoses, Bovine|Pulmonary Adenomatosis, Bovine
C538371|268130||Revesz Debuse syndrome|DKCA5|DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 5|Exudative retinopathy with bone marrow failure|Revesz Syndrome
D011015||Pneumonia, Aspiration|Acid Aspiration Syndrome|Acid Aspiration Syndromes|Aspiration Pneumonia|Aspiration Pneumonias|Gastric Acid Aspiration Syndrome|Mendelson&apos;s Syndrome|Mendelsons Syndrome|Mendelson Syndrome|Pneumonias, Aspiration|Syndrome, Acid Aspiration|Syndrome, Mendelson|Syndrome, Mendelson&apos;s|Syndromes, Acid Aspiration
125851|C564219||Maturity-Onset Diabetes of the Young, Type 2|MODY2|MODY, Glucokinase-Related|MODY, GLUCOKINASE-RELATED DIABETES, GESTATIONAL, INCLUDED|MODY, Type 2
D011018||Pneumonia, Pneumococcal|Pneumococcal Pneumonia|Pneumococcal Pneumonias|Pneumonias, Pneumococcal
D011017||Pneumonia, Lipid|Lipid Pneumonia|Lipid Pneumonias|Pneumonias, Lipid
D011019||Pneumonia, Mycoplasma|Atypical Pneumonia, Primary|Atypical Pneumonias, Primary|Mycoplasma Pneumonia|Mycoplasma Pneumonias|Pneumonia, Primary Atypical|Pneumonias, Mycoplasma|Pneumonias, Primary Atypical|Primary Atypical Pneumonia|Primary Atypical Pneumonias
C567084|608634||Neuronopathy, Distal Hereditary Motor, Type IIB|DHMN2B|HMN2B|HMN IIB|Neuropathy, Distal Hereditary Motor, Type IIB
C565717|610153||Deafness, Autosomal Recessive 49|DFNB49
C567176||Faciocardiomelic Syndrome
607499|D052018||Bulimia Nervosa|ANON2, INCLUDED|ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED|BN|BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1|BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2|BULN1|BULN2|Nervosa, Bulimia
C580130||Glycogen Storage Disease Type Ix|Gsdix|Gsd Ix|Phk Deficiency|Phosphorylase B Kinase Deficiency|Phosphorylase Kinase Deficiency
C567172||Osteopenic Nonfracture Syndrome
300200||ADRENAL HYPOPLASIA, CONGENITAL|ADDISON DISEASE, X-LINKED|ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM|ADRENAL INSUFFICIENCY, PROGRESSIVE, AND HYPOGONADOTROPIC HYPOGONADISM, INCLUDED|AHC|AHCH|AHC WITH HHG|AHC WITH ISOLATED GONADOTROPIN DEFICIENCY ADRENAL HYPOPLASIA, CONGENITAL, WITH PRECOCIOUS PUBERTY, INCLUDED|AHX|CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA|MINERALOCORTICOID DEFICIENCY, ISOLATED, INCLUDED
C567171||Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy|Multicentric Osteolysis, Autosomal Dominant
D011014||Pneumonia|Experimental Lung Inflammation|Experimental Lung Inflammations|Inflammation, Experimental Lung|Inflammation, Lung|Inflammation, Pulmonary|Inflammations, Lung|Inflammations, Pulmonary|Lobar Pneumonia|Lung Inflammation|Lung Inflammation, Experimental|Lung Inflammations|Lung Inflammations, Experimental|Pneumonia, Lobar|Pneumonias|Pneumonitides|Pneumonitis|Pulmonary Inflammation|Pulmonary Inflammations
C567174||Myokymia 1
C567173||NF1 Microduplication Syndrome
D000379||Agoraphobia|Agoraphobias
169150|C536309||Patterned dystrophy of retinal pigment epithelium|Butterfly dystrophy of retinal pigment epithelium|Butterfly-shaped pigment dystrophy of the fovea|Macular dystrophy, butterfly-shaped pigmentary|Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
D000370||Ageusia|Ageusia, Hysterical|Ageusias, Hysterical|Hypogeusia|Hypogeusias|Hysterical Ageusia|Hysterical Ageusias|Taste Blindness|Taste-Blindness
D000377||Agnosia|Agnosia, Auditory|Agnosia, Body-Image|Agnosia, Congenital Auditory|Agnosia, Developmental|Agnosia, Finger|Agnosia for Pain|Agnosia for Smell|Agnosia for Taste|Agnosia for Tastes|Agnosia for Temperature|Agnosia, Gustatory|Agnosia, Ideational|Agnosia, Olfactory|Agnosia, Position|Agnosias|Agnosias, Auditory|Agnosias, Body-Image|Agnosias, Congenital Auditory|Agnosias, Developmental|Agnosia, Sensory|Agnosias, Finger|Agnosias, Ideational|Agnosias, Olfactory|Agnosia, Somatosensory|Agnosias, Position|Agnosias, Sensory|Agnosias, Somatosensory|Agnosias, Tactile|Agnosias, Time|Agnosias, Topographical|Agnosias, Visual|Agnosias, Visuospatial|Agnosia, Tactile|Agnosia, Time|Agnosia, Topographical|Agnosia, Visual|Agnosia, Visuospatial|Anosognosia|Anosognosias|Auditory Agnosia|Auditory Agnosia, Congenital|Auditory Agnosias|Auditory Agnosias, Congenital|Body Image Agnosia|Body-Image Agnosia|Body-Image Agnosias|Congenital Auditory Agnosia|Congenital Auditory Agnosias|Developmental Agnosia|Developmental Agnosias|Finger Agnosia|Finger Agnosias|Gustatory Agnosia|Ideational Agnosia|Ideational Agnosias|Olfactory Agnosia|Olfactory Agnosias|Position Agnosia|Position Agnosias|Sensory Agnosia|Sensory Agnosias|Somatosensory Agnosia|Somatosensory Agnosias|Syndromes, Visual Disorientation|Syndrome, Visual Disorientation|Tactile Agnosia|Tactile Agnosias|Time Agnosia|Time Agnosias|Topographical Agnosia|Topographical Agnosias|Visual Agnosia|Visual Agnosia for Objects|Visual Agnosias|Visual Disorientation Syndrome|Visual Disorientation Syndromes|Visuospatial Agnosia|Visuospatial Agnosias
C564906||Pancreatitis, Sclerosing Cholangitis, and Sicca Complex
C564905||Parana Hard Skin Syndrome
D011027||Pneumoperitoneum
D011026||Pneumopericardium|Pneumopericardiums
C562873|245480||Specific Granule Deficiency|Lactoferrin-Deficient Neutrophils|Neutrophil Lactoferrin Deficiency|SGD
C567181||Loeys-Dietz Syndrome, Type 1b
D000380||Agranulocytosis|Agranulocytoses|Granulocytopenia|Granulocytopenias
607485||FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED|DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION;HDDD APHASIA, PRIMARY PROGRESSIVE, INCLUDED|FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED|FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS|FTDU|FTLD-TDP, GRN-RELATED|FTLDU|PPA, INCLUDED
C538604||Pericardial constriction with growth failure|Pericardial Constriction And Growth Failure
C567187||Best Vitelliform Macular Dystrophy, Multifocal
D011021||Pneumonia, Progressive Interstitial, of Sheep|Maedi|Progressive Interstitial Pneumonia of Sheep
C538602||Mucolipidosis 2
C567189||Li-Fraumeni-Like Syndrome
D011020||Pneumonia, Pneumocystis|Pneumocystis carinii Pneumonia|Pneumocystis Pneumonia|Pneumocystis Pneumonias|Pneumocystoses|Pneumocystosis|Pneumonia, Interstitial Plasma Cell|Pneumonia, Pneumocystis carinii|Pneumonias, Pneumocystis|Pneumonias, Pneumocystis carinii
C536195|130010||Ehlers-Danlos syndrome type 2|EDS2|EDS II|Ehlers-Danlos syndrome, mild classic type|Ehlers Danlos Syndrome, Mild Classic Type|Ehlers-Danlos syndrome, MITIS type|Ehlers Danlos Syndrome, MITIS Type|Ehlers-Danlos Syndrome, Type II
C567188||Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
D011023||Pneumonia, Staphylococcal|Pneumonias, Staphylococcal|Pneumonias, Staphylococcus Aureus|Pneumonia, Staphylococcus Aureus|Staphylococcal Pneumonia|Staphylococcal Pneumonias|Staphylococcus Aureus Pneumonia|Staphylococcus Aureus Pneumonias
D011022||Pneumonia, Rickettsial|Pneumonias, Rickettsial|Rickettsial Pneumonia|Rickettsial Pneumonias
C567182||Chromosome 10q26 Deletion Syndrome|Terminal Chromosome 10q26 Deletion Syndrome
D013684||Telangiectasis|Spider Vein|Spider Veins|Telangiectases|Telangiectasia|Telangiectasias|Vein, Spider|Veins, Spider
C567185||Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant|ADDWOC
D011024||Pneumonia, Viral|Pneumonias, Viral|Viral Pneumonia|Viral Pneumonias
C567184||Chromosome 3q29 Deletion Syndrome|Microdeletion 3q29 Syndrome
D000347||Afibrinogenemia|Afibrinogenemias|Congenital Afibrinogenemia|Deficiencies, Fibrinogen|Deficiency, Fibrinogen|Familial Afibrinogenemia|Fibrinogen Deficiencies|Fibrinogen Deficiency
152700|D008180||Lupus Erythematosus, Systemic|Disease, Libman-Sacks|EXCESS LMW-DNA, INCLUDED|EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED|Libman Sacks Disease|Libman-Sacks Disease|Lupus Erythematosus Disseminatus|SLE|SLEB1|SLEB10|SLEB11|SLEB12|SLEB13|SLEB14|SLEB15|SLEB2|SLEB3|SLEB4|SLEB5|SLEB6|SLEB7|SLEB8|SLEB9|Systemic Lupus Erythematosus|SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 15|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9
C537502|601559||Stuve-Wiedemann syndrome|Schwartz Jampel syndrome neonatal|Schwartz-Jampel Syndrome, Neonatal|Schwartz-Jampel Syndrome, Type 2|Schwartz Jampel type 2 syndrome|SJS2|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|STWS|SWS
604129|C563192||Epidermolysis Bullosa Pruriginosa|DEB, PRURIGINOSA|Dystrophic Epidermolysis Bullosa Pruriginosa
C567146||Amelogenesis Imperfecta, Hypomaturation Type, Iia1|Ai2a1|Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1
C567685|613244||Colorectal Cancer, Hereditary Nonpolyposis, Type 8|HNPCC8
C538620||Acute brachial neuritis|Acute brachial neuritis syndrome|Acute brachial radiculitis syndrome|Acute shoulder neuritis
D000343||Afferent Loop Syndrome|Afferent Loop Syndromes|Loop Syndrome, Afferent|Loop Syndromes, Afferent|Syndrome, Afferent Loop|Syndromes, Afferent Loop
D000341||Affective Disorders, Psychotic|Affective Disorder, Psychotic|Affective Psychoses|Depression, Reactive, Psychotic|Disorder, Psychotic Affective|Disorders, Psychotic Affective|Mood Disorder, Psychotic|Mood Disorders, Psychotic|Psychoses, Affective|Psychotic Affective Disorder|Psychotic Affective Disorders|Psychotic Mood Disorder|Psychotic Mood Disorders
607473||VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2|VKCFD2
218700|C566852||Hypothyroidism, Congenital, Nongoitrous, 2|Athyreotic Hypothyroidism|CHNG2|Hypothyroidism, Athyreotic|Hypothyroidism, Congenital, Due To Thyroid Dysgenesis|RESISTANCE TO THYROTROPIN|RTSH|THYROID AGENESIS|THYROID DYSGENESIS|THYROID, ECTOPIC|THYROID HYPOPLASIA|THYROTROPIN RESISTANCE
D012327||RNA Virus Infections|Infection, RNA Virus|Infections, RNA Virus|RNA Virus Infection|Virus Infection, RNA|Virus Infections, RNA
D014987||Xerostomia|Asialia|Asialias|Dryness, Mouth|Hyposalivation|Hyposalivations|Mouth Dryness|Xerostomias
C567154||Inflammatory Bowel Disease 11
C538614||Papillary renal cell carcinoma, sporadic|Papillary renal carcinoma, malignant|Papillary renal cell carcinoma, bilateral|Papillary renal cell carcinoma, familial|Papillary renal cell carcinoma, multiple
C567156||Loeys-Dietz Syndrome, Type 2A|Aortic Aneurysm, Familial Thoracic 5
C567155||Skin/Hair/Eye Pigmentation, Variation In, 7|Shep7|Skin/Hair/Eye Pigmentation 7, Blond/Brown Hair|Skin/Hair/Eye Pigmentation 7, Dark/Light Skin
D014985||Xerophthalmia|Xerophthalmias
C538618||Donath-Landsteiner hemolytic anemia|Donath-Landsteiner syndrome|Dressler syndrome|Harley syndrome|Immune hemolytic anemia, paroxysmal cold
D013651||Taste Disorders|Metallic Taste|Metallic Tastes|Primary Taste Disorder|Primary Taste Disorders|Secondary Taste Disorder|Secondary Taste Disorders|Taste Disorder|Taste Disorder, Anterior Tongue|Taste Disorder, Posterior Tongue|Taste Disorder, Primary|Taste Disorder, Primary, Bitter|Taste Disorder, Primary, Salt|Taste Disorder, Primary, Sweet|Taste Disorder, Secondary|Taste Disorder, Secondary, Bitter|Taste Disorder, Secondary, Salt|Taste Disorder, Secondary, Sweet|Taste Disorders, Primary|Taste Disorders, Secondary|Taste, Metallic|Tastes, Metallic
C567688|613235||Factor XIII, B Subunit, Deficiency Of
D000357||African Swine Fever|Swine Fever, African|Wart Hog Disease|Wart-Hog Disease|Wart-Hog Diseases
C562782|307700||Hypoparathyroidism, X-Linked|HYPX|PARATHYROID GLANDS, AGENESIS OF
604145|C565824||Cardiomyopathy, Dilated, 1g|CMD1G
C538631||Olivopontocerebellar atrophy 3|Autosomal dominant cerebellar ataxia, type 2
C567088|611773||Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps|Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures|Hanac|Hanac Syndrome|Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome|Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome
C565186|610753||Alopecia Areata 2|AA2
D000355||African Horse Sickness|African Horsesickness|African Horsesicknesses|African Horse Sicknesses|Equine Plague|Equine Plagues|Horsesickness, African|Horse Sickness, African|Horsesicknesses, African|Horse Sicknesses, African|Plague, Equine|Plagues, Equine|Sickness, African Horse|Sicknesses, African Horse
D011004||Plummer-Vinson Syndrome|Kelly&apos;s Syndrome|Kellys Syndrome|Kelly Syndrome|Patterson Brown Kelly Syndrome|Patterson-Brown-Kelly Syndrome|Patterson Kelly Syndrome|Patterson-Kelly Syndrome|Patterson&apos;s Syndrome|Pattersons Syndrome|Patterson Syndrome|Plummer Vinson Syndrome|Syndrome, Kelly&apos;s|Syndrome, Patterson-Brown-Kelly|Syndrome, Patterson-Kelly|Syndrome, Patterson&apos;s|Syndrome, Plummer Vinson|Syndrome, Plummer-Vinson
D011007||Pneumocephalus|Airocele, Cranial|Airoceles, Cranial|Cranial Airocele|Cranial Airoceles|Cranial Pneumocyst|Cranial Pneumocysts|Epidural Pneumocephalus|Gas, Intracranial|Intracranial Gas|Pneumocephalus, Epidural|Pneumocephalus, Pressure|Pneumocephalus, Tension|Pneumocephalus, Traumatic|Pneumocyst, Cranial|Pneumocysts, Cranial|Pressure Pneumocephalus|Tension Pneumocephalus|Traumatic Pneumocephalus
D011006||Pneumatosis Cystoides Intestinalis|Cystoides Intestinalis, Pneumatosis|Intestinalis, Pneumatosis Cystoides
D014997||XYY Karyotype|Karyotypes, XYY|Karyotype, XYY|XYY Karyotypes
D011009||Pneumoconiosis|Bagassosis|Pneumoconioses
222100|D003922||Diabetes Mellitus, Type 1|Autoimmune Diabetes|Brittle Diabetes Mellitus|Diabetes, Autoimmune|Diabetes, Juvenile-Onset|Diabetes Mellitus, Brittle|Diabetes Mellitus, Insulin Dependent|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Insulin-Dependent, 1|Diabetes Mellitus, Juvenile Onset|Diabetes Mellitus, Juvenile-Onset|Diabetes Mellitus, Ketosis Prone|Diabetes Mellitus, Ketosis-Prone|Diabetes Mellitus, Sudden Onset|Diabetes Mellitus, Sudden-Onset|Diabetes Mellitus, Type I|IDDM|IDDM1, INCLUDED|Insulin-Dependent Diabetes Mellitus|Insulin Dependent Diabetes Mellitus 1|Insulin-Dependent Diabetes Mellitus 1|INSULIN-DEPENDENT DIABETES MELLITUS 1, INCLUDED|Juvenile Onset Diabetes|Juvenile-Onset Diabetes|JUVENILE-ONSET DIABETES;JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED|Juvenile-Onset Diabetes Mellitus|Ketosis-Prone Diabetes Mellitus|KPD|Mellitus, Sudden-Onset Diabetes|Sudden-Onset Diabetes Mellitus|Type 1 Diabetes Mellitus
D011008||Pneumococcal Infections|Infection, Pneumococcal|Infections, Pneumococcal|Infections, Streptococcus pneumoniae|Infection, Streptococcus pneumoniae|Pneumococcal Infection|pneumoniae Infections, Streptococcus|pneumoniae Infection, Streptococcus|Streptococcus pneumoniae Infection|Streptococcus pneumoniae Infections
C538626||Olivopontocerebellar atrophy 1|Menzel type Olivopontocerebellar atrophy|Olivopontocerebellar atrophy 4|Schut-Haymaker type Olivopontocerebellar atrophy|Spinocerebellar atrophy 1
C567165||Palmoplantar Hyperkeratosis And True Hermaphroditism
C567164||Protein C Deficiency, Acquired
C536990|235730||Mowat-Wilson syndrome|Hirschsprung disease mental retardation syndrome|Hirschsprung Disease-Mental Retardation Syndrome|Microcephaly, Mental Retardation, and Distinct Facial Features, with Or without Hirschsprung Disease|MOWS
264070||HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D|CADH DEFICIENCY|HPABH4D|HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY|HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA|PCBD DEFICIENCY
C562600|223000||Lactase Deficiency, Congenital|Alactasia, Congenital|Disaccharide Intolerance II
D011001||Pleuropneumonia|Pleuropneumonias
D011000||Pleurodynia, Epidemic|Bornholm Disease|Epidemic Myalgia|Epidemic Myalgias|Epidemic Pleurodynia|Epidemic Pleurodynias|Myalgia, Epidemic|Myalgias, Epidemic|Pleurodynias, Epidemic
C567160||Anemia, Sideroblastic, Autosomal Dominant
145680|C567719||Dystransthyretinemic Euthyroidal Hyperthyroxinemia|Hyperthyroxinemia, Dysprealbuminemic|Hyperthyroxinemia, Dystransthyretinemic
C567163||Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant|PROC Deficiency, Autosomal Dominant|Protein C Deficiency, Autosomal Dominant
D011002||Pleuropneumonia, Contagious|Contagious Pleuropneumonia|Contagious Pleuropneumonias|Pleuropneumonias, Contagious
C567162||Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber|CNMDU1
D001657||Biliary Dyskinesia|Biliary Dyskinesias|Dyskinesia, Biliary|Dyskinesia, Gallbladder|Dyskinesias, Biliary|Dyskinesias, Gallbladder|Gallbladder Dyskinesia|Gallbladder Dyskinesias
D001656||Biliary Atresia|Atresia, Biliary|Atresia, Extrahepatic Biliary|Atresias, Extrahepatic Biliary|Biliary Atresia, Extrahepatic|Biliary Atresias, Extrahepatic|Extrahepatic Biliary Atresia|Extrahepatic Biliary Atresias|Familial Extrahepatic Biliary Atresia|Idiopathic Extrahepatic Biliary Atresia
C567128||Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech|Fantasy Island Syndrome|SED-BDS|Tattoo Dysplasia
D001655||Bile Reflux|Reflux, Bile
C536979|131705||Transient bullous dermolysis of the newborn|Dystrophic Epidermolysis Bullosa, Dominant Neonatal|DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL|Epidermolysis bullosa dystrophica, dominant neonatal form|EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM|TBDN
C567124||Ectopia Lentis, Isolated, Autosomal Recessive
D001658||Biliary Fistula|Biliary Fistulas|Fistula, Biliary|Fistulas, Biliary
D061285||Vestibulocochlear Nerve Injuries|Avulsions, Vestibulocochlear Nerve|Avulsion, Vestibulocochlear Nerve|Contusions, Vestibulocochlear Nerve|Contusion, Vestibulocochlear Nerve|Cranial Nerve VIII Injury|Eighth Cranial Nerve Injuries|Eighth Cranial Nerve Injury|Eighth-Nerve Palsies, Traumatic|Eighth Nerve Palsy, Traumatic|Eighth-Nerve Palsy, Traumatic|Eighth Nerve Trauma|Eighth-Nerve Trauma|Eighth-Nerve Traumas|Injuries, Vestibulocochlear Nerve|Injury, Cranial Nerve VIII|Injury, Eighth Cranial Nerve|Injury, Vestibulocochlear Nerve|Nerve Avulsions, Vestibulocochlear|Nerve Avulsion, Vestibulocochlear|Nerve Contusions, Vestibulocochlear|Nerve Contusion, Vestibulocochlear|Nerve Injuries, Vestibulocochlear|Nerve Injury, Vestibulocochlear|Nerve Transections, Vestibulocochlear|Nerve Transection, Vestibulocochlear|Nerve Traumas, Vestibulocochlear|Nerve Trauma, Vestibulocochlear|Neuropathies, Traumatic Vestibulocochlear|Neuropathy, Traumatic Vestibulocochlear|Palsies, Traumatic Eighth-Nerve|Palsy, Traumatic Eighth-Nerve|Transections, Vestibulocochlear Nerve|Transection, Vestibulocochlear Nerve|Trauma, Eighth-Nerve|Traumas, Eighth-Nerve|Traumas, Vestibulocochlear Nerve|Traumatic Eighth-Nerve Palsies|Traumatic Eighth Nerve Palsy|Traumatic Eighth-Nerve Palsy|Traumatic Vestibulocochlear Neuropathies|Traumatic Vestibulocochlear Neuropathy|Trauma, Vestibulocochlear Nerve|Vestibulocochlear Nerve Avulsion|Vestibulocochlear Nerve Avulsions|Vestibulocochlear Nerve Contusion|Vestibulocochlear Nerve Contusions|Vestibulocochlear Nerve Injury|Vestibulocochlear Nerve Transection|Vestibulocochlear Nerve Transections|Vestibulocochlear Nerve Trauma|Vestibulocochlear Nerve Traumas|Vestibulocochlear Neuropathies, Traumatic|Vestibulocochlear Neuropathy, Traumatic
C564713|300115||Mental Retardation, X-Linked 50|MRX50
D061287||Glossopharyngeal Nerve Injuries|Avulsion, Glossopharyngeal Nerve|Avulsions, Glossopharyngeal Nerve|Contusion, Glossopharyngeal Nerve|Contusions, Glossopharyngeal Nerve|Cranial Nerve IX Injury|Glossopharyngeal Nerve Avulsion|Glossopharyngeal Nerve Avulsions|Glossopharyngeal Nerve Contusion|Glossopharyngeal Nerve Contusions|Glossopharyngeal Nerve Injury|Glossopharyngeal Nerve Transection|Glossopharyngeal Nerve Transections|Glossopharyngeal Nerve Trauma|Glossopharyngeal Nerve Traumas|Glossopharyngeal Neuropathies, Traumatic|Glossopharyngeal Neuropathy, Traumatic|Injuries, Glossopharyngeal Nerve|Injury, Cranial Nerve IX|Injury, Glossopharyngeal Nerve|Injury, Ninth Cranial Nerve|Nerve Avulsion, Glossopharyngeal|Nerve Avulsions, Glossopharyngeal|Nerve Contusion, Glossopharyngeal|Nerve Contusions, Glossopharyngeal|Nerve Injuries, Glossopharyngeal|Nerve Injury, Glossopharyngeal|Nerve Transection, Glossopharyngeal|Nerve Transections, Glossopharyngeal|Nerve Trauma, Glossopharyngeal|Nerve Traumas, Glossopharyngeal|Neuropathies, Traumatic Glossopharyngeal|Neuropathy, Traumatic Glossopharyngeal|Ninth Cranial Nerve Injuries|Ninth Cranial Nerve Injury|Ninth-Nerve Palsies, Traumatic|Ninth Nerve Palsy, Traumatic|Ninth-Nerve Palsy, Traumatic|Ninth Nerve Trauma|Ninth-Nerve Trauma|Ninth-Nerve Traumas|Palsies, Traumatic Ninth-Nerve|Palsy, Traumatic Ninth-Nerve|Transection, Glossopharyngeal Nerve|Transections, Glossopharyngeal Nerve|Trauma, Glossopharyngeal Nerve|Trauma, Ninth-Nerve|Traumas, Glossopharyngeal Nerve|Traumas, Ninth-Nerve|Traumatic Glossopharyngeal Neuropathies|Traumatic Glossopharyngeal Neuropathy|Traumatic Ninth-Nerve Palsies|Traumatic Ninth Nerve Palsy|Traumatic Ninth-Nerve Palsy
C564546|300273||Goiter, Multinodular 2|MNG2
304700|C535808||Mohr-Tranebjaerg syndrome|DDP|DDS|Deafness (DFN-1) dystonia, mental deficiency and blindness|Deafness-dystonia-optic atrophy syndrome|Deafness-Dystonia-Optic Neuronopathy Syndrome|Deafness dystonia syndrome|Deafness-Dystonia Syndrome|Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency|Dystonia-Deafness Syndrome|Mohr-Tranebj&#230;rg Syndrome|MTS
D001651||Cholestasis, Extrahepatic|Bile Duct Obstruction, Extrahepatic|Biliary Stasis, Extrahepatic|Extrahepatic Biliary Stasis|Extrahepatic Cholestasis
D001650||Bile Duct Neoplasms|Bile Duct Cancer|Bile Duct Cancers|Bile Duct Neoplasm|Cancer, Bile Duct|Cancer of Bile Duct|Cancer of the Bile Duct|Cancers, Bile Duct|Neoplasm, Bile Duct|Neoplasms, Bile Duct
C567075|611536||Major Affective Disorder 6|BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD6
D012303||Ring Chromosomes|Chromosome, Ring|Chromosomes, Ring|Ring Chromosome
C567132||Dibasic Amino Aciduria I
C567131||Dystonia with Cerebellar Atrophy
D012301||Rinderpest|Cattle Plague|Plague, Cattle
C567139||Skin/Hair/Eye Pigmentation, Variation In, 6|Shep6|Skin/Hair/Eye Pigmentation 6, Blond/Brown Hair|Skin/Hair/Eye Pigmentation 6, Blue/Green Eyes
D000334||Aerophagy|Air Swallowing|Swallowing, Air
D061270||Nasal Septal Perforation|Nasal Septal Perforations|Nasal Septum Perforation|Nasal Septum Perforations|Perforation, Nasal Septal|Perforation, Nasal Septum|Perforations, Nasal Septal|Perforations, Nasal Septum|Septal Perforation, Nasal|Septal Perforations, Nasal|Septum Perforation, Nasal|Septum Perforations, Nasal
C567138||Camptodactyly Syndrome, Guadalajara, Type Ii
C567137||Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
D001660||Biliary Tract Diseases|Biliary Tract Disease|Disease, Biliary Tract|Diseases, Biliary Tract|Tract Disease, Biliary|Tract Diseases, Biliary
C538417|271150||Spinal muscular atrophy 4|SMA4|SPINAL MUSCULAR ATROPHY, ADULT FORM|SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE|SPINAL MUSCULAR ATROPHY, TYPE IV
C536426|303400||Cleft palate X-linked|CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED|Cleft Palate, X-Linked|CPX|X-linked cleft palate
C580109||Fragile X-Associated Tremor/Ataxia Syndrome|Fragile X Tremor/Ataxia Syndrome|Fxtas
D001661||Biliary Tract Neoplasms|Biliary Tract Cancer|Biliary Tract Cancers|Biliary Tract Neoplasm|Cancer, Biliary Tract|Cancer of Biliary Tract|Cancer of the Biliary Tract|Cancers, Biliary Tract|Neoplasm, Biliary Tract|Neoplasms, Biliary Tract
C580102||Fatty Acid Hydroxylase-Associated Neurodegeneration|Dysmyelinating Leukodystrophy and Spastic Paraparesis|Spastic Paraplegia 35
610551|D020803||Encephalitis, Herpes Simplex|Acute Necrotizing Encephalitis, Herpetic|Encephalitides, Herpes Simplex|Encephalitides, Herpetic|Encephalitis, Herpes|Encephalitis, Herpetic|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 1|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 2|Herpes Encephalitis|Herpes Simplex Encephalitides|Herpes Simplex Encephalitis|HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1|HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2|Herpes Simplex Meningoencephalitides|Herpes Simplex Meningoencephalitis|Herpetic Acute Necrotizing Encephalitis|Herpetic Encephalitides|Herpetic Encephalitis|Herpetic Meningoencephalitides|Herpetic Meningoencephalitis|IIAE1|IIAE2|Meningoencephalitides, Herpes Simplex|Meningoencephalitides, Herpetic|Meningoencephalitis, Herpes Simplex|Meningoencephalitis, Herpes Simplex Virus|Meningoencephalitis, Herpetic
D014973||Xanthomatosis|Xanthoma|Xanthomas|Xanthomatoses
D014972||Xanthogranuloma, Juvenile|Juvenile Xanthogranuloma|Juvenile Xanthogranulomas|Juvenile Xanthoma|Juvenile Xanthomas|Nevoxanthoendothelioma|Nevoxanthoendotheliomas|Xanthogranulomas, Juvenile|Xanthoma, Juvenile|Xanthomas, Juvenile
C567141||Bardet-Biedl Syndrome 14
D013641||Tarsal Tunnel Syndrome|Entrapment Neuropathy, Tarsal Tunnel|Posterior Tibial Nerve Neuralgia|Syndromes, Tarsal Tunnel|Syndrome, Tarsal Tunnel|Tarsal Tunnel Entrapment Neuropathy|Tarsal Tunnel Syndromes|Tarsal Tunnel Tibial Neuropathy|Tibial Neuropathy, Tarsal Tunnel|Tunnel Syndromes, Tarsal|Tunnel Syndrome, Tarsal
C567140||Bardet-Biedl Syndrome 13
C567107||Hypophosphatasia, Perinatal Lethal
D000303||Adrenal Cortex Diseases|Adrenal Cortex Disease|Cortex Disease, Adrenal|Cortex Diseases, Adrenal|Disease, Adrenal Cortex|Diseases, Adrenal Cortex
C567109||Hypergonadotropic Hypogonadism And Partial Alopecia
C567108||Hypogonadism and Testicular Atrophy
D000308||Adrenocortical Hyperfunction|Adrenal Gland Hyperfunction|Hyperadrenalism|Hyperadrenocorticism|Hypercorticism|Hyperfunction, Adrenal Gland|Hyperfunction, Adrenocortical
D000307||Adrenal Gland Diseases|Adrenal Gland Disease|Disease, Adrenal Gland|Diseases, Adrenal Gland|Gland Disease, Adrenal|Gland Diseases, Adrenal
D000306||Adrenal Cortex Neoplasms|Adrenal Cortex Cancer|Adrenal Cortex Cancers|Adrenal Cortex Neoplasm|Adrenocortical Cancer|Adrenocortical Cancers|Cancer, Adrenal Cortex|Cancer, Adrenocortical|Cancer of Adrenal Cortex|Cancer of the Adrenal Cortex|Cancers, Adrenal Cortex|Cancers, Adrenocortical|Neoplasm, Adrenal Cortex|Neoplasms, Adrenal Cortex
D001630||Bezoars|Ball, Hair|Balls, Hair|Bezoar|Hair Ball|Hair Balls|Trichobezoar|Trichobezoars
D013613||Tachycardia, Ectopic Junctional|Ectopic Junctional Tachycardia|Ectopic Junctional Tachycardias|Ectopic Tachycardia, Junctional|Ectopic Tachycardias, Junctional|Junctional Ectopic Tachycardia|Junctional Ectopic Tachycardias|Junctional Tachycardia, Ectopic|Junctional Tachycardias, Ectopic|Tachycardia, Junctional Ectopic|Tachycardias, Ectopic Junctional|Tachycardias, Junctional Ectopic
D013614||Tachycardia, Paroxysmal|Paroxysmal Reciprocal Tachycardia|Paroxysmal Reciprocal Tachycardias|Paroxysmal Tachycardia|Paroxysmal Tachycardias|Reciprocal Tachycardia, Paroxysmal|Reciprocal Tachycardias, Paroxysmal|Tachycardia, Paroxysmal Reciprocal|Tachycardias, Paroxysmal|Tachycardias, Paroxysmal Reciprocal
D013611||Tachycardia, Atrioventricular Nodal Reentry|Atrioventricular Nodal Reentrant Tachycardia|Atrioventricular Nodal Reentry Tachycardia|AV Nodal Reentrant Tachycardia|Tachycardia, AV Nodal Reentrant
D013612||Tachycardia, Ectopic Atrial|Atrial Ectopic Tachycardia|Atrial Ectopic Tachycardias|Atrial Tachycardia, Ectopic|Atrial Tachycardias, Ectopic|Ectopic Atrial Tachycardia|Ectopic Atrial Tachycardias|Ectopic Tachycardia, Atrial|Ectopic Tachycardias, Atrial|Tachycardia, Atrial Ectopic|Tachycardias, Atrial Ectopic|Tachycardias, Ectopic Atrial
D014949||Wounds, Nonpenetrating|Blunt Injuries|Blunt Injury|Injuries, Blunt|Injuries, Nonpenetrating|Injury, Blunt|Injury, Nonpenetrating|Nonpenetrating Injuries|Nonpenetrating Injury|Nonpenetrating Wound|Nonpenetrating Wounds|Wound, Nonpenetrating
D013617||Tachycardia, Supraventricular|Supraventricular Tachycardia|Supraventricular Tachycardias|Tachycardias, Supraventricular
D007877|608556||Legionnaires&apos; Disease|Disease, Legionnaire|Disease, Legionnaires&apos;|Infection, Legionella pneumophila|Infections, Legionella pneumophila|Legionella pneumophila Infection|Legionella pneumophila Infections|Legionnaire Disease|LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO|Legionnaire&apos;s Disease|Legionnaires Disease|pneumophila Infection, Legionella|pneumophila Infections, Legionella
C536330|174050||Polycystic liver disease|Isolated autosomal dominant polycystic liver disease|Isolated polycystic liver disease|PCLD
D014948||Wounds, Gunshot|Gunshot Wound|Gunshot Wounds|Wound, Gunshot
D014947||Wounds and Injuries|Injuries|Injuries and Wounds|Injuries, Wounds|Injury|Injury and Wounds|Trauma|Traumas|Wound|Wounds|Wounds and Injury|Wounds, Injury
D013615||Tachycardia, Sinoatrial Nodal Reentry|Sinoatrial Nodal Reentry Tachycardia|Sinus Node Reentrant Tachycardia|Tachycardia, SA Nodal Reentrant
D014946||Wound Infection|Infections, Wound|Infection, Wound|Wound Infections
D013616||Tachycardia, Sinus|Sinus Tachycardia|Sinus Tachycardias|Tachycardias, Sinus
C565836|603896||Vanishing White Matter Leukodystrophy with Ovarian Failure|CACH|CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION|CREE LEUKOENCEPHALOPATHY;CLE VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED|LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER|Ovarioleukodystrophy|OVARIOLEUKODYSTROPHY, INCLUDED|VANISHING WHITE MATTER LEUKODYSTROPHY|VWM
D000309||Adrenal Insufficiency|Adrenal Gland Hypofunction|Adrenal Insufficiencies|Hypoadrenalism|Hypofunction, Adrenal Gland
208230|C535387||Arthropathy, progressive pseudorheumatoid, of childhood|PPAC|PPD|Progressive pseudorheumatoid arthropathy of childhood|Progressive pseudorheumatoid dysplasia|SEDT-PA|Spondyloepiphyseal dysplasia tarda with progressive arthropathy
C566672|182980||Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant|FINKEL LATE-ADULT TYPE SMA|SMAFK|SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE|SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT
D013610||Tachycardia|Tachyarrhythmia|Tachyarrhythmias|Tachycardias
D000012|200100||Abetalipoproteinemia|ABL|Acanthocytoses|Acanthocytosis|Bassen Kornzweig Disease|Bassen-Kornzweig Disease|Bassen Kornzweig Syndrome|Bassen-Kornzweig Syndrome|Betalipoprotein Deficiency Disease|Betalipoprotein Deficiency Diseases|Deficiency Disease, Betalipoprotein|Deficiency Diseases, Betalipoprotein|Disease, Betalipoprotein Deficiency|Diseases, Betalipoprotein Deficiency|Microsomal Triglyceride Transfer Protein Deficiency|Microsomal Triglyceride Transfer Protein Deficiency Disease|MTP DEFICIENCY
D000314||Adrenal Rest Tumor|Adrenal Cortical Rest Tumor|Adrenal Rest Tumors|Rest Tumor, Adrenal|Rest Tumors, Adrenal|Tumor, Adrenal Rest|Tumors, Adrenal Rest
D000312||Adrenal Hyperplasia, Congenital|Adrenal Hyperplasias, Congenital|Congenital Adrenal Hyperplasia|Congenital Adrenal Hyperplasias|Hyperplasia, Congenital Adrenal|Hyperplasias, Congenital Adrenal
C567119||Skin/Hair/Eye Pigmentation, Variation In, 5|Shep5|Skin/Hair/Eye Pigmentation 5, Black/Nonblack Hair|Skin/Hair/Eye Pigmentation 5, Dark/Fair Skin|Skin/Hair/Eye Pigmentation 5, Dark/Light Eyes
D001649||Bile Duct Diseases|Bile Duct Disease|Disease, Bile Duct|Diseases, Bile Duct|Duct Disease, Bile|Duct Diseases, Bile
C567116||Kininogen Deficiency, High Molecular Weight and Low Molecular Weight
C564106|309545||Mental Retardation, X-Linked, Syndromic 12|MRXS12
D002971||Cleft Lip|Cleft Lips|Harelip|Harelips|Lip, Cleft|Lips, Cleft
C564682|606668||Inflammatory Bowel Disease 8|IBD8
D002972||Cleft Palate|Cleft Palate, Isolated|Cleft Palates|Palate, Cleft|Palates, Cleft
C564794|271665||Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type|SMED, Short Limb-Abnormal Calcification Type|SMED, Short Limb-Hand Type|SMED-SL|SMED-SL/AC|SMED Type II|SMED, TYPE II|Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
D000310||Adrenal Gland Neoplasms|Adrenal Cancer|Adrenal Cancers|Adrenal Gland Cancer|Adrenal Gland Cancers|Adrenal Gland Neoplasm|Adrenal Neoplasm|Adrenal Neoplasms|Cancer, Adrenal|Cancer, Adrenal Gland|Cancer of the Adrenal Gland|Cancers, Adrenal|Cancers, Adrenal Gland|Neoplasm, Adrenal|Neoplasm, Adrenal Gland|Neoplasms, Adrenal|Neoplasms, Adrenal Gland
D038901||Mental Retardation, X-Linked|Mental Retardation, X Linked|Retardation, X-Linked Mental|X Linked Mental Retardation|X-Linked Mental Retardation|X Linked Mental Retardation Disorders|X-Linked Mental Retardation Disorders|X-Linked Mental Retardations|X Linked Mental Retardation Syndromes|X-Linked Mental Retardation Syndromes
D013625||Takayasu Arteritis|Aortitis Syndrome|Arteritides, Young Female|Arteritis, Takayasu|Arteritis, Takayasus|Arteritis, Takayasu&apos;s|Arteritis, Young Female|Disease, Takayasu|Female Arteritides, Young|Female Arteritis, Young|Pulseless Disease|Syndrome, Aortitis|Takayasu Disease|Takayasu&apos;s Arteritis|Takayasus Arteritis|Takayasu Syndrome|Young Female Arteritides|Young Female Arteritis
D014954||Wrist Injuries|Injuries, Wrist|Injury, Wrist|Wrist Injury
D013622||Taeniasis|Infections, Taenia|Infection, Taenia|Taenia Infection|Taenia Infections|Taeniases
C537425|229100||Glutamate formiminotransferase deficiency|Arakawa syndrome 1|FIGLU-Uria|Formiminoglutamic Aciduria|Formiminoglutamicaciduria (FIGLU-uria)|Formiminotransferase Deficiency|Formiminotransferase deficiency syndrome|GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
C567121||Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
C567122||Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
C566899|611638||Microphthalmia, Isolated, with Coloboma 5|MCOPCB5
D014951||Wounds, Stab|Stab Wound|Stab Wounds|Wound, Stab
D014950||Wounds, Penetrating|Penetrating Wound|Penetrating Wounds|Wound, Penetrating
248370|C535705||Mandibuloacral dysplasia with type A lipodystrophy|Craniomandibular Dermatodysostosis|CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED|Lipodystrophy, type A, associated with mandibuloacral dysplasia|MADA|Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical
C563687|609918||Gallbladder Disease 2|GBD2
C537854|164100||Nystagmus 2, congenital, autosomal dominant|NYS2|Nystagmus congenital, motor 2|Nystagmus, Congenital Motor, 2
C537871|245590||Laron syndrome type 2|Growth Hormone Insensitivity Due To Postreceptor Defect|Growth Hormone Insensitivity With Immunodeficiency|Laron syndrome due to postreceptor defect|Laron type dwarfism 2
601308||MYELOID TUMOR SUPPRESSOR|MLRL|MYELOID LEUKEMIA-RELATED LOCUS
C563919|608520||Major Depressive Disorder 1|MDD1|Unipolar Depression 1
C535866|300258||Roifman syndrome|Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency|SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
D002051|113970||Burkitt Lymphoma|African Lymphoma|BL|Burkitt Cell Leukemia|Burkitt Leukemia|Burkitt&apos;s Leukemia|Burkitts Leukemia|Burkitt&apos;s Lymphoma|Burkitts Lymphoma|Burkitt&apos;s Tumor|Burkitts Tumor|Burkitt Tumor|Cell Leukemia, Burkitt|L3 Lymphocytic Leukemia|L3 Lymphocytic Leukemias|Leukemia, Burkitt|Leukemia, Burkitt Cell|Leukemia, Burkitt&apos;s|Leukemia, L3 Lymphocytic|Leukemia, Lymphoblastic, Burkitt-Type|Leukemia, Lymphocytic, L3|Leukemias, L3 Lymphocytic|Lymphocytic Leukemia, L3|Lymphocytic Leukemias, L3|Lymphoma, African|Lymphoma, Burkitt|Lymphoma, Burkitt&apos;s|Tumor, Burkitt|Tumor, Burkitt&apos;s
C562460|612759||Synesthesia|SYNSTH
D014924||Wissler&apos;s Syndrome|Subsepsis Allergica|Subsepsis Hyperergica|Syndrome, Wissler-Fanconi|Syndrome, Wissler&apos;s|Wissler Fanconi Syndrome|Wissler-Fanconi Syndrome|Wisslers Syndrome|Wissler Syndrome
143200|C536075||Hyaloideoretinal degeneration of Wagner|Erosive vitreoretinopathy|ERVR|HYALOIDEORETINAL DEGENERATION OF WAGNER|Vcan-Related Vitreoretinopathy|Wagner Disease|Wagner Syndrome|Wagner Syndrome 1|Wagner syndrome type 1|Wagner vitreoretinal degeneration|WAGNER VITREORETINOPATHY|WGN1|WGVRP
D058502|313850||Pentalogy of Cantrell|Cantrell Haller Ravitch syndrome|Cantrell Pentalogy|Cantrell&apos;s Pentalogy|Cantrells Pentalogy|Pentalogy, Cantrell|Pentalogy, Cantrell&apos;s|PENTALOGY OF CANTRELL, INCLUDED|TAS MIDLINE DEFECTS, X-LINKED, INCLUDED|THAS|Thoracoabdominal Syndrome|Thoracoabdominal Syndromes
202110|C538237||Adrenal hyperplasia, congenital, type 5|17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE, INCLUDED|17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL, INCLUDED|17-alpha-hydroxylase deficiency|17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED|Adrenal hyperplasia, congenital due to 17-alpha-hydroxylase deficiency|Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency|Adrenal Hyperplasia V
D013606||Tabes Dorsalis|Ataxia, Locomotor|Ataxias, Locomotor|Locomotor Ataxia|Locomotor Ataxias|Meningomyelitides, Syphilitic|Meningomyelitis, Syphilitic|Meningovascular Syphilis, Spinal|Myelosyphilis|Neurosyphilis, Tabetic|Spinal Cord Syphilis|Spinalis, Tabes|Spinal Meningovascular Syphilis|Syphilis, Spinal Cord|Syphilis, Spinal Meningovascular|Syphilitic Meningomyelitides|Syphilitic Meningomyelitis|Tabes Spinalis|Tabetic Neurosyphilis
611147|C567001||Paroxysmal Nonkinesigenic Dyskinesia 2|Dystonia 20|DYT20|PNKD2
D005922|161950||Glomerulonephritis, IGA|Berger Disease|Berger&apos;s Disease|Bergers Disease|Glomerulonephritides, IGA|IGA Glomerulonephritis|IGAN|IGAN1|IGAN2|IGA Nephropathy|Iga Nephropathy 1|IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1|IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2|IGA Type Nephritis|Immunoglobulin A Nephropathy|Nephritis, IGA Type|Nephropathy 1, Iga|Nephropathy, IGA|Nephropathy, Immunoglobulin A
C567100||Mucolipidosis II Alpha Beta
D002925||Ciliary Motility Disorders|Ciliary Dyskinesia|Ciliary Dyskinesias|Ciliary Motility Disorder|Cilia Syndrome, Immotile|Cilia Syndromes, Immotile|Disorder, Ciliary Motility|Disorders, Ciliary Motility|Dyskinesia, Ciliary|Dyskinesias, Ciliary|Immotile Cilia Syndrome|Immotile Cilia Syndromes|Syndrome, Immotile Cilia|Syndromes, Immotile Cilia
D017188||Adenophorea Infections|Adenophorea Infection|Aphasmidia Infection|Aphasmidia Infections|Infection, Adenophorea|Infection, Aphasmidia|Infections, Adenophorea|Infections, Aphasmidia
D002921||Cicatrix|Cicatrization|Scar|Scarring|Scars
300518|C564496||Mental Retardation, X-Linked 82|MRX82
D017180||Tachycardia, Ventricular|Tachycardias, Ventricular|Ventricular Tachycardia|Ventricular Tachycardias
D042101||Acalculous Cholecystitis|Acalculous Gallbladder Inflammation|Cholecystitis, Acalculous|Gallbladder Inflammation, Acalculous
606054|D056693||Propionic Acidemia|Acidemia Propionic|Acidemia, Propionic|Acidemia Propionics|Acidemias, Propionic|Aciduria, Propionic|Acidurias, Propionic|Carboxylase Deficiencies, Propionyl-CoA|Carboxylase Deficiency, Propionyl-CoA|Deficiencies, PCC|Deficiencies, Propionyl-CoA Carboxylase|Deficiency, PCC|Deficiency, Propionyl-CoA Carboxylase|Glycinemia, Ketotic|Glycinemias, Ketotic|Hyperglycinemia, Ketotic|Hyperglycinemias, Ketotic|Hyperglycinemia With Ketoacidosis And Leukopenia|Ketotic Glycinemia|Ketotic Glycinemias|Ketotic Hyperglycinemia|Ketotic Hyperglycinemias|PCC Deficiencies|PCC Deficiency|Propionicacidemia|Propionic, Acidemia|Propionicacidemias|Propionic Acidemias|Propionicaciduria|Propionic Aciduria|Propionicacidurias|Propionic Acidurias|Propionics, Acidemia|Propionyl-CoA Carboxylase Deficiencies|Propionyl CoA Carboxylase Deficiency|Propionyl-CoA Carboxylase Deficiency
C567433|612020||Spastic Paraplegia 39, Autosomal Recessive|NTEMND|NTE-Related Motor Neuron Disorder|SPG39
C564523|300378||Radial Ray Deficiency, X-Linked|RRDX
D001602||Beriberi
D017196||Rhabditida Infections|Infection, Rhabditida|Infections, Rhabditida|Rhabditida Infection
603933||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1|END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|MICROVASCULAR COMPLICATIONS OF DIABETES, PROTECTION AGAINST, INCLUDED|MVCD1|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|NEUROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, INCLUDED|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED
C535742|601110||Congenital disorder of glycosylation type 1D|Carbohydrate-deficient glycoprotein syndrome, type 4|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY|CDG1D|CDGId|CDG Id|CDGS4, FORMERLY|CDGS, TYPE IV, FORMERLY|Congenital Disorder Of Glycosylation, Type ID
D017192||Skin Diseases, Bacterial|Bacterial Skin Disease|Bacterial Skin Diseases|Disease, Bacterial Skin|Diseases, Bacterial Skin|Skin Disease, Bacterial
D017193||Skin Diseases, Viral|Diseases, Viral Skin|Disease, Viral Skin|Skin Disease, Viral|Viral Skin Disease|Viral Skin Diseases
D017194||Oxyurida Infections|Infection, Oxyurida|Infections, Oxyurida|Oxyurida Infection
D015799|258870||Gyrate Atrophy|Atrophy, Gyrate|Deficiency, OAT|Deficiency, OKT|Deficiency, Ornithine Aminotransferase|Deficiency, Ornithine-Delta-Aminotransferase|GACR|GYRATE ATROPHY|Gyrate Atrophy of Choroid and Retina|Gyrate Atrophy of the Choroid and Retina|HOGA|Hyperornithinemia with Gyrate Atrophy of Choroid and Retina|OAT Deficiency|OKT Deficiency|Ornithine Aminotransferase Deficiency|Ornithine Delta Aminotransferase Deficiency|Ornithine-Delta-Aminotransferase Deficiency|Ornithine Ketoacid Aminotransferase Deficiency|Ornithine Keto Acid Aminotransferase Deficiency|Ornithinemia with Gyrate Atrophy
605388|C562856||Cerebral Palsy, Ataxic, Autosomal Recessive|ACP|Ataxic Cerebral Palsy
D017190||Secernentea Infections|Infection, Phasmidia|Infection, Secernentea|Infections, Phasmidia|Infections, Secernentea|Phasmidia Infection|Phasmidia Infections|Secernentea Infection
D017191||Ascaridida Infections|Ascaridida Infection|Infection, Ascaridida|Infections, Ascaridida
D014917||Whooping Cough|Bordetella pertussis Infection, Respiratory|Cough, Whooping|Pertusses|Pertussis
239100|D010009||Osteochondrodysplasias|Buchem Diseases, Van|Buchem Disease, Van|Chondrodystrophic Myotonia|Chondrodystrophic Myotonias|Chondrodystrophies, Myotonic|Chondrodystrophy, Myotonic|Diseases, Van Buchem|Disease, Van Buchem|Dyschondroplasia|Dyschondroplasias|Dysplasia, Multiple Epiphyseal|Dysplasias, Multiple Epiphyseal|Dysplasia, Spondyloepiphyseal|Dysplasias, Spondyloepiphyseal|Endosteal Hyperostosis, Autosomal Recessive|Epiphyseal Dysplasia, Multiple|Epiphyseal Dysplasias, Multiple|Hyperostosis Corticalis Generalisata|Hyperphosphatasemia Tarda|Hyperphosphatasemia Tardas|Late-Onset Spondyloepiphyseal Dysplasia|Melnick Needles Osteodysplasty|Melnick-Needles Osteodysplasty|Melnick Needles Syndrome|Melnick-Needles Syndrome|MNS|Multiple Epiphyseal Dysplasia|Multiple Epiphyseal Dysplasias|Myotonia, Chondrodystrophic|Myotonias, Chondrodystrophic|Myotonic Chondrodystrophies|Myotonic Chondrodystrophy|Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities|Osteochondrodysplasia|Osteodysplasty, Melnick-Needles|Osteodysplasty of Melnick and Needles|Schwartz Jampel Aberfeld syndrome|Schwartz-Jampel-Aberfeld Syndrome|Schwartz Jampel Syndrome|Schwartz-Jampel Syndrome|Schwartz Jampel Syndrome, Type 1|Schwartz-Jampel Syndrome, Type 1|SED Tarda|SJA Syndrome|SJA Syndromes|SJS|SJS1|Sost Related Sclerosing Bone Dysplasia|Sost-Related Sclerosing Bone Dysplasia|Sost Sclerosing Bone Dysplasia|Spondylo Epimetaphyseal Dysplasia With Myotonia|Spondylo-Epimetaphyseal Dysplasia With Myotonia|Spondyloepiphyseal Dysplasia|Spondyloepiphyseal Dysplasias|Syndrome, Melnick-Needles|Syndrome, Schwartz-Jampel|Syndrome, Schwartz-Jampel-Aberfeld|Syndrome, SJA|Syndromes, SJA|Van Buchem Disease|Van Buchem Diseases|VBCH|X-Linked SED|X-Linked SEDT|X-Linked Spondyloepiphyseal Dysplasia Tarda
D014912||White Muscle Disease|Diseases, White Muscle|Disease, White Muscle|Muscle Diseases, White|Muscle Disease, White|White Muscle Diseases
D014911||Whiplash Injuries|Injuries, Whiplash|Injury, Whiplash|Whiplash Injury
C563433|600883||Diabetes Mellitus, Insulin-Dependent, 8|IDDM8|Insulin-Dependent Diabetes Mellitus 8
D001607||Berylliosis|Beryllioses|Beryllium Disease
612541|C567260||Neutropenia, Severe Congenital, Autosomal Recessive 4|DURSUN SYNDROME, INCLUDED|NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE|PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT, INCLUDED|Scn4
D017189||Enoplida Infections|Dioctophyma renale Infection|Dioctophyma renale Infections|Enoplida Infection|Infection, Dioctophyma renale|Infection, Enoplida|Infections, Dioctophyma renale|Infections, Enoplida
606391|C562772||Mason-Type Diabetes|MASON-TYPE DIABETES|Maturity-Onset Diabetes of the Young|MODY
D017285||Polymyositis|Idiopathic Polymyositides|Idiopathic Polymyositis|Multiple Myositis|Myositides, Multiple|Myositis, Multiple|Ossificans, Polymyositis|Polymyositides|Polymyositides, Idiopathic|Polymyositis, Idiopathic|Polymyositis Ossificans
613290||HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO|CIHL
194072|D017624||WAGR Syndrome|11p Partial Monosomy Syndrome|Chromosome 11p13 Deletion Syndrome|Complex, WAGR|Contiguous Gene Syndrome, WAGR|Syndrome, WAGR|WAGR|WAGR Complex|WAGR Complices|WAGR Contiguous Gene Syndrome|WAGR SYNDROME|WAGR Syndromes|Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome|Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome|Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome|Wilms Tumor-Aniridia-Genitourinary Anomalies-MR Syndrome|Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome
D017282||Tick-Borne Diseases|Diseases, Tick-Borne|Disease, Tick-Borne|Infections, Tick Borne|Infections, Tick-Borne|Infection, Tick-Borne|Tick-Borne Disease|Tick Borne Diseases|Tick-Borne Infection|Tick Borne Infections|Tick-Borne Infections
C564969|255320||Minicore Myopathy with External Ophthalmoplegia|Minicore Disease|Minicore Myopathy|Multicore Disease|Multicore Myopathy|Multicore Myopathy With External Ophthalmoplegia|Multiminicore Disease|Multi-Minicore Disease|Multiminicore Disease With External Ophthalmoplegia|Multiminicore Myopathy|MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
C537203|609306||Spinocerebellar ataxia 26|SCA26|Spinocerebellar ataxia type 26
D054222||Cobblestone Lissencephaly|Cobblestone Complex|Cobblestone Dysplasia|Cobblestone Dysplasias|Cobblestone Lissencephalies|Dysplasia, Cobblestone|Dysplasias, Cobblestone|Lissencephalies, Cobblestone|Lissencephaly, Cobblestone|Lissencephaly Type 2
D054220||Malformations of Cortical Development|Cerebral Cortical Dysplasia|Cerebral Cortical Dysplasias|Cortical Development Malformation|Cortical Development Malformations|Cortical Dysplasia|Cortical Dysplasia, Cerebral|Cortical Dysplasias|Cortical Dysplasias, Cerebral|Development Malformation, Cortical|Development Malformations, Cortical|Dysplasia, Cerebral Cortical|Dysplasia, Cortical|Dysplasias, Cerebral Cortical|Dysplasias, Cortical|Hemimegalencephalies|Hemimegalencephaly|Malformations of Cerebral Cortex Development|Polymicrogyria|Polymicrogyrias|Schizencephalies|Schizencephaly
D056886||Contrecoup Injury|Contre-coup Injuries|Contrecoup Injuries|Contre coup Injury|Contre-coup Injury|Injuries, Contrecoup|Injuries, Contre-coup|Injury, Contrecoup|Injury, Contre-coup
122700|C563039||Coumarin Resistance|Coumarin, Poor Metabolism Of|Warfarin Resistance|WARFARIN RESISTANCE COUMARIN SENSITIVITY, INCLUDED|WARFARIN SENSITIVITY, INCLUDED
C536058|259730||Osteopetrosis with renal tubular acidosis|Carbonic anhydrase 2 deficiency|Carbonic Anhydrase II Deficiency|Guibaud Vainsel syndrome|Guibaud-Vainsel Syndrome|Marble brain disease|OPTB3|Osteopetrosis, Autosomal Recessive 3|OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
613285||DEAFNESS, AUTOSOMAL RECESSIVE 25|DFNB25
D011371|176670||Progeria|HGPS|Hutchinson Gilford Progeria Syndrome|Hutchinson-Gilford Progeria Syndrome|Hutchinson-Gilford Progeria Syndromes|Hutchinson Gilford Syndrome|Hutchinson-Gilford Syndrome|PROGERIA PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED|Progeria Syndrome, Hutchinson-Gilford|Progeria Syndromes, Hutchinson-Gilford
137100|C536290||Immunoglobulin a deficiency 1|Gamma-a-globulin, selective deficiency of|IGAD1|Iga, selective deficiency of|Immunoglobulin a, selective deficiency of
C536335|174810||Polyostotic osteolytic dysplasia, hereditary expansile|EOF|Expansile osteolysis, familial|Familial expansile osteolysis|FEO|HEPOD|McCabe disease|Osteolysis, familial expansile|POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE
C565720|611755||Leber Congenital Amaurosis 10|LCA10
D007965|245200||Leukodystrophy, Globoid Cell|beta-Galactosidase Deficiencies, Galactosylceramide|beta-Galactosidase Deficiency, Galactosylceramide|Cell Leukodystrophies, Globoid|Cell Leukodystrophy, Globoid|Cell Leukoencephalopathies, Globoid|Cell Leukoencephalopathy, Globoid|Classic Globoid Cell Leukodystrophy|Deficiencies, Galactocerebrosidase|Deficiencies, Galactosylceramide beta-Galactosidase|Deficiencies, GALC|Deficiency Disease, Galactosylceramidase|Deficiency Disease, Galactosylceramide-beta-Galactosidase|Deficiency Diseases, Galactosylceramidase|Deficiency Diseases, Galactosylceramide-beta-Galactosidase|Deficiency, Galactocerebrosidase|Deficiency, Galactosylceramide beta-Galactosidase|Deficiency, GALC|Diffuse Globoid Body Sclerosis|Disease, Galactosylceramidase Deficiency|Disease, Galactosylceramide-beta-Galactosidase Deficiency|Diseases, Galactosylceramidase Deficiency|Diseases, Galactosylceramide-beta-Galactosidase Deficiency|Early Onset Globoid Cell Leukodystrophy|Early-Onset Globoid Cell Leukodystrophy|Galactocerebrosidase Deficiencies|Galactocerebrosidase Deficiency|Galactosylceramidase Deficiency Disease|Galactosylceramidase Deficiency Diseases|Galactosylceramide beta-Galactosidase Deficiencies|Galactosylceramide beta Galactosidase Deficiency|Galactosylceramide beta-Galactosidase Deficiency|Galactosylceramide beta Galactosidase Deficiency Disease|Galactosylceramide-beta-Galactosidase Deficiency Disease|Galactosylceramide-beta-Galactosidase Deficiency Diseases|Galactosylceramide Lipidosis|Galactosylcerebrosidase Deficiency|Galactosylsphingosine Lipidosis|GALC Deficiencies|GALC Deficiency|GCL|GLD|Globoid Body Sclerosis, Diffuse|Globoid Cell Leukodystrophies|Globoid Cell Leukodystrophy|Globoid Cell Leukoencephalopathies|Globoid Cell Leukoencephalopathy|Globoid Leukodystrophies|Globoid Leukodystrophy|Infantile Globoid Cell Leukodystrophy|Krabbe Disease|Krabbe Leukodystrophy|Krabbe&apos;s Disease|Krabbes Disease|Krabbe&apos;s Leukodystrophy|Krabbes Leukodystrophy|Late Onset Globoid Cell Leukodystrophy|Late-Onset Globoid Cell Leukodystrophy|Leukodystrophies, Globoid|Leukodystrophies, Globoid Cell|Leukodystrophy, Globoid|Leukodystrophy, Globoid Cell, Classic|Leukodystrophy, Globoid Cell, Early-Onset|Leukodystrophy, Globoid Cell, Infantile|Leukodystrophy, Globoid Cell, Late-Onset|Leukodystrophy, Krabbe|Leukodystrophy, Krabbe&apos;s|Leukoencephalopathies, Globoid Cell|Leukoencephalopathy, Globoid Cell|Psychosine Lipidosis
C562590|610651||Xeroderma Pigmentosum, Complementation Group B|Xeroderma Pigmentosum, Group B|XPB|XPB/CS, INCLUDED|XP, GROUP B;XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED
C571911||Gastrointestinal anthrax
D030243||Hemorrhagic Syndrome, Bovine|Bovine Hemorrhagic Syndrome
C571912||Inhalation anthrax
612540|C567261||Myopathy, Congenital, Compton-North
D054243||Vesicular Stomatitis|Stomatitides, Vesicular|Stomatitis, Vesicular|Vesicular Stomatitides
C564708|606438||Huntington Disease-Like 2|HDL2
253220|D016538||Mucopolysaccharidosis VII|beta-Glucuronidase Deficiencies|beta Glucuronidase Deficiency|beta-Glucuronidase Deficiency|Deficiencies, beta-Glucuronidase|Deficiencies, GUSB|Deficiency, beta-Glucuronidase|Deficiency, GUSB|Disease, Sly|GUSB Deficiencies|GUSB Deficiency|MPS7|MPS VII|Mucopolysaccharidosis 7|Mucopolysaccharidosis Type VII|MUCOPOLYSACCHARIDOSIS, TYPE VII|Mucopolysaccharidosis Type VIIs|Mucopolysaccharidosis VIIs|Sly Disease|Sly Syndrome|Syndrome, Sly|Type VII, Mucopolysaccharidosis|Type VIIs, Mucopolysaccharidosis|VIIs, Mucopolysaccharidosis
271245||MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)|IOSCA|MTDPS7|OHAHA SYNDROME|OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPACUSIS, AND ATHETOSIS|SCA8, FORMERLY|SPINOCEREBELLAR ATAXIA 8, FORMERLY|SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET|SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY
D018589||Gastroparesis|Gastric Stases|Gastric Stasis|Gastropareses|Stases, Gastric|Stasis, Gastric
180300|D001172||Arthritis, Rheumatoid|RA|Rheumatoid Arthritis|RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
C566909|611597||Cataract, Autosomal Dominant, Multiple Types 1|CATARACT 12, MULTIPLE TYPES|CTRCT12
D000795|301500||Fabry Disease|alpha Galactosidase A Deficiency|alpha-Galactosidase A Deficiency|alpha Galactosidase A Deficiency Disease|alpha-Galactosidase A Deficiency Disease|Anderson Fabry Disease|Anderson-Fabry Disease|Angiokeratoma Corporis Diffusum|Angiokeratoma Diffuse|Angiokeratoma, Diffuse|Ceramide Trihexosidase Deficiency|CERAMIDE TRIHEXOSIDASE DEFICIENCY FABRY DISEASE, CARDIAC VARIANT, INCLUDED|Deficiency, alpha-Galactosidase A|Deficiency, Ceramide Trihexosidase|Deficiency, GLA|Diffuse Angiokeratoma|Fabry&apos;s Disease|GLA Deficiency|Hereditary Dystopic Lipidosis|Lipidosis, Hereditary Dystopic
D017271||Craniomandibular Disorders|Craniomandibular Disease|Craniomandibular Diseases|Craniomandibular Disorder|Disease, Craniomandibular|Diseases, Craniomandibular|Disorder, Craniomandibular|Disorders, Craniomandibular
C537423|257550||Apraxia, oculomotor, Cogan type|Cogan&apos;s syndrome, type 2|COMA|Congenital Oculomotor Apraxia|Ocular Motor Apraxia|Oculomotor Apraxia, Cogan Type|Saccade initiation failure, congenital
C567213|612645||Deafness, Autosomal Recessive 1b|DFNB1B
D000741|609135||Anemia, Aplastic|Anemia, Hypoplastic|Anemias, Aplastic|Anemias, Hypoplastic|Aplastic Anemia|Aplastic Anemias|APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED|Hypoplastic Anemia|Hypoplastic Anemias
C565231|606394||MODY, Type 6|Maturity-Onset Diabetes of the Young, Type 6|MODY6|MODY, TYPE 6
D055589||Pancreatitis, Graft|Graft Pancreatitis
C563485||Osteomas Of Mandible
C563484||Osteopoikilosis, Isolated
C563483||Osteosclerosis with Ichthyosis and Fractures|Cortical Thickening of Long Bones with Bowing and Ichthyosis
D017243||MERRF Syndrome|Fukuhara Disease|Fukuhara Syndrome|MERRF|Myoclonic Epilepsy and Ragged Red Fibers|Myoclonic Epilepsy Associated with Ragged Red Fibers|Myoclonic Epilepsy Associated with Ragged-Red Fibers|Myoclonic Epilepsy with Ragged Red Fibers|Myoclonic Epilepsy with Ragged-Red Fibers|Myoclonus with Epilepsy with Ragged Red Fibers|Myoencephalopathy Ragged Red Fiber Disease|Myoencephalopathy Ragged-Red Fiber Disease|Syndrome, Fukuhara|Syndrome, MERRF
146200|C537156||Hypoparathyroidism familial isolated|FIH|HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED|Hypoparathyroidism, Familial Isolated
C563488||Ossified Ear Cartilages
C563487||Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures
C537190||Ruvalcaba Churesigaew Myhre syndrome
D005258||Felty Syndrome|Familial Felty&apos;s Syndrome|Familial Feltys Syndrome|Familial Felty Syndrome|Felty&apos;s Syndrome|Feltys Syndrome|Felty&apos;s Syndrome, Familial|Felty Syndrome, Familial|Rheumatoid Arthritis, Splenomegaly and Neutropenia|Syndrome, Familial Felty|Syndrome, Familial Felty&apos;s|Syndrome, Felty|Syndrome, Felty&apos;s
D004437|224700||Ebstein Anomaly|Anomaly, Ebstein|Anomaly, Ebstein&apos;s|Ebstein Malformation|Ebstein&apos;s Anomaly|Ebsteins Anomaly|Ebstein&apos;s Anomaly, Familial|Ebstein&apos;s Malformation|Ebsteins Malformation|Familial Ebstein Anomaly|Familial Ebstein&apos;s Anomaly|Familial Ebsteins Anomaly|Malformation, Ebstein&apos;s
D020896||Hypovolemia|Hypovolemias|Hypovolemic|Hypovolemics
D005254||Feline Panleukopenia|Agranulocytoses, Feline|Agranulocytosis, Feline|Ataxia, Feline|Ataxias, Feline|Cat Plague|Cat Plagues|Distemper, Feline|Distempers, Feline|Enteritides, Feline Infectious|Enteritis, Feline Infectious|Feline Agranulocytoses|Feline Agranulocytosis|Feline Ataxia|Feline Ataxias|Feline Distemper|Feline Distempers|Feline Infectious Enteritides|Feline Infectious Enteritis|Feline Panleukopenias|Fever, Show|Fevers, Show|Infectious Enteritides, Feline|Infectious Enteritis, Feline|Panleukopenia, Feline|Panleukopenias, Feline|Plague, Cat|Plagues, Cat|Show Fever|Show Fevers
C537192||Ruzicka Goerz Anton syndrome|Ichthyosis deafness mental retardation skeletal anomalies
C537193||Saal Bulas syndrome|Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum
D005262||Feminization|Feminizations
D005261||Female Urogenital Diseases and Pregnancy Complications
D005264||Femoral Fractures|Femoral Fracture|Fracture, Femoral|Fractures, Femoral
D017237||Mitochondrial Encephalomyopathies|Encephalomyopathies, Mitochondrial|Encephalomyopathy, Mitochondrial|Mitochondrial Encephalomyopathy
C563493||Optic Nerve Aplasia, Bilateral
D004062|188400||DiGeorge Syndrome|22q11.2 Deletion Syndrome|22q11.2DS|Autosomal Dominant Opitz G Bbb Syndrome|Autosomal Dominant Opitz G-Bbb Syndrome|Catch22|CATCH22, INCLUDED|CHROMOSOME 22q11.2 DELETION SYNDROME|Conotruncal Anomaly Face Syndrome|Conotruncal Anomaly Face Syndrome (CTAF)|Deletion 22q11.2 Syndrome|Deletion Syndrome, 22q11.2|DGCR, INCLUDED|DGS|DiGeorge Anomaly|DiGeorge Sequence|Familial Third and Fourth Pharyngeal Pouch Syndrome|Hypoplasia of Thymus and Parathyroids|Pharyngeal Pouch Syndrome|Sedlackova Syndrome|Shprintzen Syndrome|Shprintzen VCF Syndrome|Syndrome, DiGeorge|Syndrome, Sedlackova|Syndrome, Shprintzen|Syndrome, VCF|Syndrome, Velocardiofacial|Syndrome, Velo-Cardio-Facial|TAKAO VCF SYNDROME, INCLUDED|Third and Fourth Pharyngeal Pouch Syndrome|THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED|Thymic Aplasia Syndrome|VCFS|VCF Syndrome|Velocardiofacial Syndrome|Velo Cardio Facial Syndrome|Velo-Cardio-Facial Syndrome
D018567||Breast Neoplasms, Male|Breast Cancer, Male|Breast Carcinoma, Male|Breast Neoplasm, Male|Breast Tumor, Male|Breast Tumors, Male|Cancer, Male Breast|Carcinoma, Male Breast|Male Breast Cancer|Male Breast Carcinoma|Male Breast Neoplasm|Male Breast Neoplasms|Male Breast Tumor|Male Breast Tumors|Neoplasm, Male Breast|Neoplasms, Breast, Male|Neoplasms, Male Breast|Tumor, Male Breast|Tumors, Breast, Male|Tumors, Male Breast
C563491||Orofaciodigital Syndrome X|Oral-Facial-Digital Syndrome, Type X|Oral-Facial-Digital Syndrome with Fibular Aplasia|Orofaciodigital Syndrome with Fibular Aplasia
C566552|602404||Parkinson Disease 3, Autosomal Dominant Lewy Body|PARK3|Parkinson Disease 3, Autosomal Dominant|PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY
C563490||Orbital Margin, Hypoplasia of
C563497||Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
C563496||Optic Atrophy with Demyelinating Disease of CNS
D017253||Neurofibromatoses|Multiple Neurofibroma|Multiple Neurofibromas|Neurofibroma, Multiple|Neurofibromas, Multiple|Neurofibromatosis|Neurofibromatosis 3|Neurofibromatosis 3s|Neurofibromatosis Syndrome|Neurofibromatosis Syndromes|Neurofibromatosis Type 3|Neurofibromatosis Type 3s|Syndrome, Neurofibromatosis|Syndromes, Neurofibromatosis|Type 3, Neurofibromatosis
C563494||Optic Atrophy with Negative Electroretinograms
D017254||Leukemic Infiltration|Infiltration, Leukemic|Infiltrations, Leukemic|Leukemic Infiltrations
C563499||Ophthalmoplegia, Familial Total, with Iris Transillumination
C563498||Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency
D017250||Caliciviridae Infections|Caliciviridae Infection|Calicivirus Infection|Calicivirus Infections|Infection, Caliciviridae|Infection, Calicivirus|Infections, Caliciviridae|Infections, Calicivirus
C563399|601068||Epilepsy, Myoclonic, Benign Adult Familial, Type 1|BAFME1|Benign Adult Familial Myoclonic Epilepsy 1|Cortical Myoclonic Tremor With Epilepsy, Familial|CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1|Cortical Tremor, Familial|Epilepsy, Familial Adult Myoclonic, 1|FAME1|FCMTE1
D020886||Somatosensory Disorders|Diminished, Pain Sensation|Diminished, Pinprick Sensation|Diminisheds, Pain Sensation|Diminisheds, Pinprick Sensation|Impairment, Light Touch Sensation|Light Touch Sensation Impairment|Pain Sensation Diminished|Pain Sensation Diminisheds|Pinprick Sensation Diminished|Pinprick Sensation Diminisheds|Position Sense Disorder|Position Sense Disorders|Proprioceptive Disorder|Proprioceptive Disorders|Sensation Diminished, Pain|Sensation Diminished, Pinprick|Sensation Diminisheds, Pain|Sensation Diminisheds, Pinprick|Sensation Disorder, Somatic|Sensation Disorders, Somatic|Sensation Disorders, Thermal|Sensation Disorder, Thermal|Sense Disorder, Position|Sense Disorders, Position|Somatic Sensation Disorder|Somatic Sensation Disorders|Somatosensory Disorder|Thermal Sensation Disorder|Thermal Sensation Disorders
D005266||Femoral Neoplasms|Femoral Neoplasm|Neoplasm, Femoral|Neoplasms, Femoral
D005265||Femoral Neck Fractures|Femoral Neck Fracture|Femur Neck Fracture|Femur Neck Fractures
181430||SCAPULOPERONEAL MYOPATHY, MYH7-RELATED|SCAPULOPERONEAL MUSCULAR DYSTROPHY|SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE|SPMD|SPMM
613239||THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2|TTPP2
C563492|165550||Optic Nerve Hypoplasia, Bilateral|OPTIC NERVE APLASIA, BILATERAL, INCLUDED
C566982|611263||Asphyxiating Thoracic Dystrophy 2|ASPHYXIATING THORACIC DYSTROPHY 2|ATD2|SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY|SRTD2
D017246||Ophthalmoplegia, Chronic Progressive External|Chronic Progressive External Ophthalmoplegia|CPEO|Disease, Graefe|Dystrophy, Ocular Muscular|External Ophthalmoplegia, Progressive|Graefe Disease|Graefe&apos;s Disease|Mitochondrial Ocular Myopathy|Muscular Dystrophies, Ocular|Muscular Dystrophy, Ocular|Myopathy, Mitochondrial Ocular|Ocular Muscular Dystrophies|Ocular Muscular Dystrophy|Ocular Myopathy, Mitochondrial|Ocular Myopathy of Von Graefe Fuchs|Ocular Myopathy of Von Graefe-Fuchs|Ophthalmoplegia, Progressive External|Progressive External Ophthalmoplegia
C563464||Orofacial Cleft 7
C566585|602085||Polydactyly, Postaxial, Type A2|Papa2|Postaxial Polydactyly, Type A2
C564793||Subaortic Stenosis, Membranous
C564792||Sucrosuria, Hiatus Hernia and Mental Retardation
C563468||Cleft Lip, Congenital Healed|Congenital Healed Cleft Lip
C564799||Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies|Casamassima-Morton-Nance Syndrome
C563467||Hypertryptophanemia, Familial
181405||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY|AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE|SPSMA
C563466||UV-Sensitive Syndrome
C564797||Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
C564796||Spondyloepiphyseal Dysplasia Tarda with Mental Retardation
D014923|301000||Wiskott-Aldrich Syndrome|Aldrich Syndrome|Eczema Thrombocytopenia Immunodeficiency Syndrome|Eczema-Thrombocytopenia-Immunodeficiency Syndrome|Eczema-Thrombocytopenia-Immunodeficiency Syndromes|Imd2|Immunodeficiency 2|Syndrome, Aldrich|Syndrome, Eczema-Thrombocytopenia-Immunodeficiency|Syndromes, Eczema-Thrombocytopenia-Immunodeficiency|Syndrome, Wiskott-Aldrich|WAS|WAS1|Wiskott Aldrich Syndrome|WISKOTT-ALDRICH SYNDROME 1|Wiskott Syndrome
C565225|609812||Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction|Diabetes and Pancreatic Exocrine Dysfunction|Diabetes-Pancreatic Exocrine Dysfunction Syndrome|DPED|MODY8
D005236||Favism|Favisms
215140||GREENBERG DYSPLASIA|CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE|GRBGD|HEM SKELETAL DYSPLASIA|HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA|MOTH-EATEN SKELETAL DYSPLASIA
213200|C565865||Spinocerebellar Ataxia, Autosomal Recessive 2|Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital|Cerebellar Hypoplasia, Nonprogressive Norman Type|Cerebelloparenchymal Disorder III|CPD3|CPD III|SCAR2
D007896||Leishmaniasis|Leishmaniases
D006566||Herpesviridae Infections|Herpesviridae Infection|Herpesvirus Infection|Herpesvirus Infections|Infection, Herpesviridae|Infection, Herpesvirus|Infections, Herpesviridae|Infections, Herpesvirus
D007897||Leishmaniasis, Mucocutaneous|Leishmaniases, Mucocutaneous|Mucocutaneous Leishmaniases|Mucocutaneous Leishmaniasis
D006563||Herpes Zoster Ophthalmicus|Herpes Zoster, Ocular|Ocular Herpes Zoster
D005235||Fatty Liver, Alcoholic|Alcoholic Fatty Liver|Alcoholic Steatohepatitis
D005234||Fatty Liver|Liver, Fatty|Liver Steatoses|Liver Steatosis|Steatohepatitides|Steatohepatitis|Steatoses, Liver|Steatosis, Liver|Steatosis of Liver|Visceral Steatosis
613238||SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3|SPDA3
C536703|314580||Wieacker syndrome|Apraxia, oculomotor, with congenital contractures and muscle atrophy|Contractures of feet, muscle atrophy, and oculomotor apraxia|WIEACKER SYNDROME|Wieacker Wolff syndrome|Wieacker-Wolff Syndrome|WRWF
D005242||Fecal Incontinence|Fecal Incontinences|Incontinence, Fecal|Incontinences, Fecal
C567639|613330||Spondylo-Megaepiphyseal-Metaphyseal Dysplasia|SMMD
D017219||Gastric Outlet Obstruction|Gastric Outlet Obstructions|Obstruction, Gastric Outlet|Obstructions, Gastric Outlet|Outlet Obstruction, Gastric|Outlet Obstructions, Gastric
600081|C564005||Vitamin D Hydroxylation-Deficient Rickets, Type 1B|25-Hydroxyvitamin D3 Deficiency, Selective|Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency|VDDR1B|Vitamin D-Dependent Rickets, Type 1B
D020879||Neuromuscular Manifestations|Disease Manifestation, Muscle|Disease Manifestations, Muscle|Manifestation, Muscle Disease|Manifestation, Neuromuscular|Manifestations, Muscle Disease|Manifestations, Neuromuscular|Muscle Disease Manifestation|Muscle Disease Manifestations|Neuromuscular Manifestation|Neuromuscular Signs and Symptoms|Signs and Symptoms, Neuromuscular
214500|D002609||Chediak-Higashi Syndrome|Chediak Higashi Syndrome|Chediak-Steinbrinck-Higashi Syndrome|CHS|Oculocutaneous Albinism with Leukocyte Defect|Syndrome, Chediak-Higashi
D018549||Cryptogenic Organizing Pneumonia|BOOP|Bronchiolitis Obliterans Organizing Pneumonia|Cryptogenic Organizing Pneumonias|Organizing Pneumonia, Cryptogenic|Organizing Pneumonias, Cryptogenic|Pneumonia, Cryptogenic Organizing|Pneumonias, Cryptogenic Organizing
187800|C566061||Glanzmann Thrombasthenia, Autosomal Dominant|BDPLT16|BLEEDING DISORDER, PLATELET-TYPE, 16|GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT|Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant
D058088|608099||Sarcoglycanopathies|Adhalinopathies|Adhalinopathies, Primary|Adhalinopathy, Primary|Alpha Sarcoglycanopathies|Alpha-Sarcoglycanopathies|Alpha Sarcoglycanopathy|Alpha-Sarcoglycanopathy|DMDA2|Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2|Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2|LGMD2D|Limb Girdle Muscular Dystrophy, Type 2D|Limb-Girdle Muscular Dystrophy, Type 2D|Muscular Dystrophy, Limb-Girdle, Type 2D|Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency|Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency|Primary Adhalinopathies|Primary Adhalinopathy|Sarcoglycanopathy
D019873||Schnitzler Syndrome
C563470||Setting-Sun Phenomenon, Familial Benign
D056846|277600||Weill-Marchesani Syndrome|Congenital Mesodermal Dysmorphodystrophies|Congenital Mesodermal Dysmorphodystrophy|Dysmorphodystrophies, Congenital Mesodermal|Dysmorphodystrophy, Congenital Mesodermal|GEMSS|Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome|Marchesani Syndrome|Marchesani Weill Syndrome|Marchesani-Weill Syndrome|Marchesani-Weill Syndromes|Mesodermal Dysmorphodystrophies, Congenital|Mesodermal Dysmorphodystrophy, Congenital|Spherophakia Brachymorphia Syndrome|Spherophakia-Brachymorphia Syndrome|Spherophakia Brachymorphia Syndromes|Syndrome, Spherophakia Brachymorphia|Syndromes, Spherophakia Brachymorphia|Weill Marchesani Syndrome|WEILL-MARCHESANI SYNDROME 1|WEILL-MARCHESANI SYNDROME 2|Weill Marchesani Syndrome, Autosomal Dominant|Weill-Marchesani Syndrome, Autosomal Dominant|Weill Marchesani Syndrome, Autosomal Recessive|Weill-Marchesani Syndrome, Autosomal Recessive|WMS1|WMS2
D017213||Root Caries|Caries, Cervical|Caries, Root|Cary, Cervical|Cervical Caries|Cervical Cary
C563472||Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
C563479||Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis
C563477||Nephrolithiasis, Calcium Oxalate|Urolithiasis, Calcium Oxalate
113300||BRACHYDACTYLY, TYPE E1|BDE|BDE1|BRACHYDACTYLY, TYPE E
215150||OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA|CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS|NANCE-INSLEY SYNDROME|NANCE-SWEENEY CHONDRODYSPLASIA|OSMED
D012021|145290||Reflex, Abnormal|Abnormal Deep Tendon Reflex|Abnormal Reflex|Abnormal Reflexes|Absent Reflex|Bulbocavernosus Reflex, Decreased|Bulbocavernousus Reflex Absent|Decreased Bulbocavernosus Reflex|Decreased Reflex|Hoffman&apos;s Reflex|HRX|Hyperreflexia|Hyporeflexia|Palmo Mental Reflex|Palmo-Mental Reflex|Pendular Reflex|Reflex, Absent|Reflex Absent, Bulbocavernousus|Reflex, Acoustic, Abnormal|Reflex, Anal, Absent|Reflex, Anal, Decreased|Reflex, Ankle, Abnormal|Reflex, Ankle, Absent|Reflex, Ankle, Decreased|Reflex, Biceps, Abnormal|Reflex, Biceps, Absent|Reflex, Biceps, Decreased|Reflex, Corneal, Absent|Reflex, Corneal, Decreased|Reflex, Decreased|Reflex, Decreased Bulbocavernosus|Reflex, Deep Tendon, Abnormal|Reflex, Deep Tendon, Absent|Reflexes, Abnormal|Reflex, Gag, Absent|Reflex, Gag, Decreased|Reflex, Hoffman&apos;s|Reflex, Knee, Abnormal|Reflex, Knee, Decreased|Reflex, Moro, Asymmetric|Reflex, Palmo-Mental|Reflex, Pendular|Reflex, Triceps, Abnormal|Reflex, Triceps, Absent|Reflex, Triceps, Decreased
D020863||Central Nervous System Cysts|Cleft Cysts, Rathke&apos;s|Cysts, Central Nervous System|Cysts, Rathke Cleft|Cysts, Suprasellar|Cyst, Suprasellar|Rathke Cleft Cysts|Rathke&apos;s Cleft Cysts|Rathkes Cleft Cysts|Suprasellar Cyst|Suprasellar Cysts
D005244||Fecal Impaction|Fecalith|Feces, Impacted|Impaction, Fecal
D020734|600116||Parkinsonian Disorders|Autosomal Dominant Juvenile Parkinson Disease|Autosomal Dominant Juvenile Parkinsonism|Autosomal Dominant Parkinsonism|Autosomal Recessive Juvenile Parkinson Disease|Autosomal Recessive Parkinsonism|Autosomal Recesssive Juvenile Parkinsonism|Chromosome 6 Linked Autosomal Recessive Parkinsonism|Chromosome 6-Linked Autosomal Recessive Parkinsonism|Diseases, Experimental Parkinson|Dominant Parkinsonism, Autosomal|EPDF|Experimental Parkinson Disease|Experimental Parkinson Diseases|Experimental Parkinsonism|Experimental Parkinsonism, MPTP Induced|Experimental Parkinsonism, MPTP-Induced|Experimental Parkinsonisms|Familial Juvenile Parkinsonism|Familial Parkinson Disease, Autosomal Recessive|Juvenile Parkinson Disease|Juvenile Parkinson Disease, Autosomal Dominant|Juvenile Parkinson Disease, Autosomal Recessive|Juvenile Parkinsonism|Juvenile Parkinsonism, Autosomal Dominant|Juvenile Parkinsonism, Autosomal Recessive|Juvenile Parkinsonism, Familial|Juvenile Parkinsonisms|MPTP Induced Experimental Parkinsonism|MPTP-Induced Experimental Parkinsonism|PARK2|Parkinson Disease 2|Parkinson Disease 2, Autosomal Recessive Juvenile|Parkinson Disease, Autosomal Dominant. Juvenile|Parkinson Disease Autosomal Recessive, Early Onset|Parkinson Disease, Experimental|Parkinson Disease, Familial, Autosomal Recessive|Parkinson Disease, Juvenile|Parkinson Disease, Juvenile, Autosomal Dominant|Parkinson Disease, Juvenile, Autosomal Recessive|Parkinson Diseases, Experimental|Parkinsonian Diseases|Parkinsonian Syndrome|Parkinsonian Syndromes|Parkinsonism|Parkinsonism, Autosomal Dominant|Parkinsonism, Autosomal Recessive|Parkinsonism, Early Onset, with Diurnal Fluctuation|Parkinsonism, Early-Onset, With Diurnal Fluctuation|Parkinsonism, Experimental|Parkinsonism, Familial Juvenile|Parkinsonism, Juvenile|Parkinsonism, Juvenile, Autosomal Dominant|Parkinsonism, Juvenile, Autosomal Recessive|Parkinsonism, MPTP-Induced Experimental|Parkinsonisms, Experimental|Parkinsonisms, Juvenile|PDJ|Ramsay Hunt Paralysis Syndrome|Recessive Parkinsonism, Autosomal
D017227||Toxascariasis|Toxascariases
D017229||Enterobiasis|Enterobiases|Enterobius vermicularis Infection|Enterobius vermicularis Infections|Infection, Enterobius vermicularis|Infection, Oxyuris vermicularis|Infections, Enterobius vermicularis|Infections, Oxyuris vermicularis|Oxyuris vermicularis Infection|Oxyuris vermicularis Infections
C563482||Otodental Dysplasia|Chromosome 11q13 Deletion Syndrome|Oculootodental Syndrome|Otodental Syndrome|Otodental Syndrome With Coloboma
607847|C564320||Neutropenia, Nonimmune Chronic Idiopathic, Adult|NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS|NI-CINA|Nonimmune Chronic Idiopathic Neutropenia of Adults
C563480||Ovalocytosis, Hereditary Hemolytic
C564773||Thoracomelic Dysplasia|Thoraco-Limb Dysplasia
C537154||Hypomandibular faciocranial dysostosis
C537155||Hypomelia mullerian duct anomalies|Hypomelia with Mullerian Duct Anomalies|Limb uterus syndrome|Limb-Uterus Syndrome|Severe upper limb hypoplasia and Mullerian duct anomalies
C564771||Tetraphocomelia-Thrombocytopenia Syndrome
C564770||Thumb Agenesis, Short Stature, And Immunodeficiency
C564777||Male Germ Cell Tumor
C538489||Familial hyperchylomicronemia syndrome|Hyperlipoproteinemia, type 1
D005218||Fat Necrosis|Fat Necroses|Necrosis, Fat|Steatonecroses|Steatonecrosis
C537159||Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response|Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses
106260|C535847||Hay-Wells syndrome|AEC SYNDROME|Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome|Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate|ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE|HAY-WELLS SYNDROME|Hay Wells Syndrome Dominant Form
D006549||Hernia, Diaphragmatic, Traumatic|Diaphragmatic Hernias, Traumatic|Diaphragmatic Hernia, Traumatic|Hernias, Traumatic Diaphragmatic|Hernia, Traumatic Diaphragmatic|Traumatic Diaphragmatic Hernia|Traumatic Diaphragmatic Hernias
C564774||Thoracic Dysplasia-Hydrocephalus Syndrome
D006547||Hernia|Enterocele|Hernias
C536872|600146||Spastic paraplegia type 5B, recessive|SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE|SPG5B
D006548||Hernia, Diaphragmatic|Diaphragmatic Hernia|Diaphragmatic Hernias|Hernias, Diaphragmatic
D007876||Legionellosis|Legionelloses
C563425|606176||Diabetes Mellitus, Permanent Neonatal|DEND, INCLUDED|DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES, INCLUDED|Diabetes Mellitus, Permanent, of Infancy|DIABETES MELLITUS, PERMANENT, OF INFANCY;PDMI DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED|Permanent Neonatal Diabetes Mellitus|PNDM
C563447||Dwarfism, Familial, With Muscle Spasms
D020852||Lyme Neuroborreliosis|Borrelia burgdorferi Neuroborreliosis|Central Nervous System Lyme Disease|Encephalopathies, Lyme Disease|Encephalopathy, Lyme Disease|Lyme Borreliosis, Nervous System|Lyme Disease, Central Nervous System|Lyme Disease Encephalopathies|Lyme Disease Encephalopathy|Lyme Disease Mononeuritis Multiplex|Lyme Disease, Nervous System|Lyme Meningoencephalitis|Lyme Meningoradiculitis|Lyme Polyradiculitides|Lyme Polyradiculitis|Lyme Polyradiculopathies|Lyme Polyradiculopathy|Meningoencephalitis, Lyme|Meningoradiculitis, Lyme|Mononeuritis Multiplex, Lyme Disease|Nervous System Lyme Borreliosis|Nervous System Lyme Disease|Neuroborrelioses, Borrelia burgdorferi|Neuroborreliosis, Borrelia burgdorferi|Neuroborreliosis, Lyme|Peripheral Nervous System Lyme Disease|Polyradiculitides, Lyme|Polyradiculitis, Lyme|Polyradiculopathies, Lyme|Polyradiculopathy, Lyme
C538482||Monosomy 5p
D005211||Fascioliasis|Fascioliases
C538481||Acquired CJD|Sporadic CJD
D005213||Fascioloidiasis|Fascioloidiases
D006550||Hernia, Femoral|Femoral Hernia|Femoral Hernias|Hernias, Femoral
D006551||Hernia, Hiatal|Esophageal Hernia|Esophageal Hernias|Esophageal Hernia, Sliding|Esophageal Hernias, Sliding|Hernia, Esophageal|Hernia, Hiatus|Hernia, Paraesophageal|Hernia, Paraesophageal Hiatal|Hernias, Esophageal|Hernias, Hiatal|Hernias, Hiatus|Hernia, Sliding Esophageal|Hernia, Sliding Hiatal|Hernias, Paraesophageal|Hernias, Paraesophageal Hiatal|Hernias, Sliding Esophageal|Hernias, Sliding Hiatal|Hiatal Hernia|Hiatal Hernia, Paraesophageal|Hiatal Hernias|Hiatal Hernia, Sliding|Hiatal Hernias, Paraesophageal|Hiatal Hernias, Sliding|Hiatus Hernia|Hiatus Hernias|Paraesophageal Hernia|Paraesophageal Hernias|Paraesophageal Hiatal Hernia|Paraesophageal Hiatal Hernias|Sliding Esophageal Hernia|Sliding Esophageal Hernias|Sliding Hiatal Hernia|Sliding Hiatal Hernias
D020859||Hallux Rigidus|Rigidus, Hallux
D020857||Hallux Limitus|Limitus, Hallux
C535328|212200||Homocarnosinosis|Carnosinase Deficiency|Carnosinemia|Homocarnosinase deficiency
D004832|600131||Epilepsy, Absence|Absence Epilepsies, Childhood|Absence Epilepsies, Juvenile|Absence Epilepsy|Absence Epilepsy, Childhood|Absence Epilepsy, Juvenile|Absence Seizure|Absence Seizure, Atonic|Absence Seizure Disorder|Absence Seizure Disorders|Absence Seizures|Absence Seizures, Atonic|Akinetic Petit Mal|Atonic Absence Seizure|Atonic Absence Seizures|Childhood Absence Epilepsies|Childhood Absence Epilepsy|Convulsion, Petit Mal|ECA1|ECA2|ECA5|ECA6|EIG6, INCLUDED|EJA1|Epilepsies, Childhood Absence|Epilepsies, Juvenile Absence|Epilepsy, Absence, Atypical|Epilepsy, Childhood Absence|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6, INCLUDED|Epilepsy Juvenile Absence|Epilepsy, Juvenile Absence|Epilepsy Juvenile Absences|EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1|Epilepsy, Minor|Epilepsy, Petit Mal|JAE1|Juvenile Absence Epilepsies|Juvenile Absence Epilepsy|Juvenile Absence, Epilepsy|Juvenile Absences, Epilepsy|Minor Epilepsies|Minor Epilepsy|Petit Mal, Akinetic|Petit Mal Convulsion|Petit Mal Epilepsies|Petit Mal Epilepsy|Pykno-Epilepsies|Pykno Epilepsy|Pykno-Epilepsy|Pyknolepsies|Pyknolepsy|Seizure, Absence|Seizure, Atonic Absence|Seizure Disorder, Absence|Seizure Disorders, Absence|Seizures, Atonic Absence
C563453||Proximal Myopathy with Focal Depletion of Mitochondria
C564784||Gm2-Gangliosidosis, Adult Chronic Type
100070||AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1|AAA|AAA1|ABDOMINAL AORTIC ANEURYSM|ANEURYSM, ABDOMINAL AORTIC
C538497||Irresistible sleepiness, cataplexy and onset of sleep in desynchronized phase
C564783||Hexosaminidase A Deficiency, Adult Type
C538496||Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria
C564782||Tay-Sachs Disease, Juvenile
C537163||Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
C538494||Aplastic anemia, idiopathic
C537164||Panostotic fibrous dysplasia
C564788||Tapetoretinal Degeneration with Ataxia
C537169||Papular urticaria|Bullous papular urticaria - type
C563456||Colorectal Cancer, Hereditary Nonpolyposis, Type 5|HNPCC5
300624|D005600||FRAGILE X MENTAL RETARDATION SYNDROME FRAGILE X SYNDROME|MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28|X-LINKED MENTAL RETARDATION AND MACROORCHIDISM|MARKER X SYNDROME|MARTIN-BELL SYNDROME PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED, INCLUDED|FRAGILE X PREMATURE OVARIAN FAILURE, INCLUDED
C564787||Tatsumi Factor Deficiency
C563455||Dermoid Cysts, Familial Frontonasal
C564786||Tay-Sachs Disease, Pseudo-AB Variant
C538499||Erythema migrans
C537167||Papillomatosis, florid, of nipple|Florid papillomatosis of the nipple
C564785||Tay-Sachs Disease, Variant B1
D006558||Herpes Genitalis|Genital Herpes|Genital Herpes Simplex|Herpes, Genital|Herpes Simplex, Genital|Herpes Simplex Virus Genital Infection
D007889||Leiomyoma|Fibroid|Fibroids|Fibroids, Uterine|Fibroid Tumor|Fibroid Tumors|Fibroid, Uterine|Fibroid Uterus|Fibromas, Uterine|Fibroma, Uterine|Fibromyoma|Fibromyomas|Leiomyomas|Leiomyoma, Uterine|Tumor, Fibroid|Tumors, Fibroid|Uterine Fibroid|Uterine Fibroids|Uterine Fibroma|Uterine Fibromas|Uterus, Fibroid
C535483|193700||Freeman-Sheldon syndrome|Arthrogryposis, Distal, Type 2A|Craniocarpotarsal Dysplasia|Craniocarpotarsal dystrophy|DA2A|Distal Arthrogryposis, Type 2A|FREEMAN-SHELDON SYNDROME|FSS|Whistling Face Syndrome|Whistling Face-Windmill Vane Hand Syndrome
D006559||Pemphigoid Gestationis|Gestational Pemphigoid|Gestational Pemphigoids|Gestationi, Pemphigoid|Gestationis, Pemphigoid|Herpes Gestationis|Pemphigoid, Gestational|Pemphigoid Gestationi|Pemphigoids, Gestational
254780|D020192||Lafora Disease|Disease, Lafora|Disease, Lafora Body|Disorder, Lafora Body|Epilepsy Progressive Myoclonic 2|Epilepsy, Progressive Myoclonic 2A|Epilepsy, Progressive Myoclonic, Lafora|EPM2A|EPM2B, INCLUDED|EPM2 EPILEPSY, PROGRESSIVE MYOCLONIC 2B, INCLUDED|Lafora Body Disease|Lafora Body Disease, Late Onset|Lafora-Body Disease, Late Onset|Lafora Body Disorder|LAFORA DISEASE|Lafora Myoclonic Epilepsy|Lafora Progressive Myoclonic Epilepsy|Lafora Progressive Myoclonus Epilepsy|Lafora Type Progressive Myoclonic Epilepsy|Late Onset Lafora Body Disease|LBD|MELF|Myoclonic Epilepsy of Lafora|Progressive Myoclonic Epilepsy, Lafora|Progressive Myoclonic Epilepsy, Lafora Type|Progressive Myoclonic Epilepsy Type 2|Progressive Myoclonus Epilepsy, Lafora Type
D006556||Heroin Dependence|Abuse, Heroin|Addiction, Heroin|Dependence, Heroin|Heroin Abuse|Heroin Addiction
D006557||Herpangina|Herpanginas
C563458||Varicella, Severe Recurrent
D012559|181500||Schizophrenia|Dementia Praecox|Disorder, Schizophrenic|Disorders, Schizophrenic|SCHIZOAFFECTIVE DISORDER, INCLUDED|SCHIZOPHRENIA 1|SCHIZOPHRENIA 11|SCHIZOPHRENIA 12|SCHIZOPHRENIA 13|SCHIZOPHRENIA 14|SCHIZOPHRENIA 2|SCHIZOPHRENIA 3|SCHIZOPHRENIA 4|SCHIZOPHRENIA 5|SCHIZOPHRENIA 6|SCHIZOPHRENIA 7|SCHIZOPHRENIA 8|SCHIZOPHRENIA 9|Schizophrenias|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q13-q14-RELATED SCHIZOPHRENIA, NEUROPHYSIOLOGIC DEFECT IN, INCLUDED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 18-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 2q32-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 5-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED|Schizophrenic Disorder|Schizophrenic Disorders|SCZD|SCZD1|SCZD11|SCZD12|SCZD13|SCZD14|SCZD2|SCZD3|SCZD4|SCZD5|SCZD6|SCZD7|SCZD8|SCZD9
D006554||Hernia, Umbilical|Exomphalos|Hernias, Umbilical|Omphalocele|Omphaloceles|Umbilical Hernia|Umbilical Hernias
C538493||Familial Burkitt&apos;s lymphoma
D005222||Mental Fatigue|Fatigue, Mental
D006555||Hernia, Ventral|Hernias, Ventral|Ventral Hernia|Ventral Hernias
D005221||Fatigue|Lassitude
C537162||Pancreatoblastoma
D006552||Hernia, Inguinal|Direct Inguinal Hernia|Direct Inguinal Hernias|Hernia, Direct Inguinal|Hernia, Indirect Inguinal|Hernias, Direct Inguinal|Hernias, Indirect Inguinal|Hernias, Inguinal|Indirect Inguinal Hernia|Indirect Inguinal Hernias|Inguinal Hernia|Inguinal Hernia, Direct|Inguinal Hernia, Indirect|Inguinal Hernias|Inguinal Hernias, Direct|Inguinal Hernias, Indirect
D006553||Hernia, Obturator|Hernias, Obturator|Obturator Hernia|Obturator Hernias
D006561||Herpes Simplex
D006562||Herpes Zoster|Shingles|Zona|Zoster
D007890||Leiomyosarcoma|Epithelioid Leiomyosarcoma|Epithelioid Leiomyosarcomas|Leiomyosarcoma, Epithelioid|Leiomyosarcoma, Myxoid|Leiomyosarcomas|Leiomyosarcomas, Epithelioid|Leiomyosarcomas, Myxoid|Myxoid Leiomyosarcoma|Myxoid Leiomyosarcomas
208550|C565935||Asthma, Nasal Polyps, And Aspirin Intolerance|ASA Triad|ASA TRIAD ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO, INCLUDED|ASTHMA AND NASAL POLYPS, INCLUDED
D006560||Herpes Labialis|Blister, Fever|Blisters, Fever|Cold Sore|Cold Sores|Fever Blister|Fever Blisters|Herpes Simplex, Labial|Labial Herpes Simplex|Sore, Cold|Sores, Cold
203450|D038261||Alexander Disease|Alexander&apos;s Disease|Alexanders Disease|Demyelinogenic Leukodystrophy|Dysmyelinogenic Leukodystrophy|Fibrinoid Degeneration of Astrocytes|Leukodystrophy with Rosenthal Fibers
D019867||Anti-Glomerular Basement Membrane Disease|Anti GBM Disease|Anti-GBM Disease|Anti Glomerular Basement Membrane Disease|Goodpasture&apos;s Syndrome|Goodpastures Syndrome|Goodpasture Syndrome|Lung Purpura with Nephritis|Syndrome, Goodpasture|Syndrome, Goodpasture&apos;s
D017205||Spirurida Infections|Habronemiases|Habronemiasis|Infection, Spirurida|Infections, Spirurida|Spirurida Infection
607447||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4|BMIQ4|OBESITY, SUSCEPTIBILITY TO
C536596|606889||Alzheimer disease type 4|AD4|Alzheimer disease 4|Alzheimer Disease, Familial, 4|Alzheimer disease, familial, type 4
D017206||Strongylida Infections|dentatus Infections, Stephanurus|dentatus Infection, Stephanurus|Infections, Stephanurus dentatus|Infections, Strongylida|Infection, Stephanurus dentatus|Infection, Strongylida|Stephanurus dentatus Infection|Stephanurus dentatus Infections|Strongylida Infection|Syngamiases|Syngamiasis
D013341|608355||Sturge-Weber Syndrome|Angiomatosis, Meningo-Oculo-Facial|Angiomatosis Oculoorbital-Thalamic Syndrome|Encephalofacial Hemangiomatosis Syndrome|Hemangiomatosis Syndrome, Encephalofacial|Meningofacial Angiomatosis-Cerebral Calcification Syndrome|Meningo Oculo Facial Angiomatosis|Meningo-Oculo-Facial Angiomatosis|Neuroretinoangiomatosis|Parkes Weber Syndrome|Parkes-Weber Syndrome|Phakomatosis, Sturge Weber|Phakomatosis, Sturge-Weber|PKWS|Sturge Disease|Sturge Kalischer Weber Syndrome|Sturge-Kalischer-Weber Syndrome|Sturge&apos;s Syndrome|Sturge Syndrome|Sturge Weber Dimitri Syndrome|Sturge-Weber-Dimitri Syndrome|Sturge Weber Krabbe Syndrome|Sturge-Weber-Krabbe Syndrome|Sturge-Weber Phakomatosis|Sturge Weber Syndrome|Syndrome, Encephalofacial Hemangiomatosis|Syndrome, Parkes Weber|Syndrome, Parkes-Weber|Syndrome, Sturge|Syndrome, Sturge-Kalischer-Weber|Syndrome, Sturge&apos;s|Syndrome, Sturge-Weber|Syndrome, Sturge-Weber-Dimitri|Syndrome, Sturge-Weber-Krabbe
C535598|300352||Creatine deficiency, X-linked|CCDS1|CEREBRAL CREATINE DEFICIENCY SYNDROME 1|Creatine Deficiency Syndrome, X-Linked|Creatine Transporter Defect|Creatine Transporter Deficiency|Mental retardation, X-linked, with creatine transport deficiency|Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia|Slc6a8 Deficiency|Slc6a8-Related Creatine Transporter Deficiency|X-Linked Creatine Deficiency|X-linked creatine deficiency syndrome|X-linked creatine transporter deficiency
C563460||Deafness, Autosomal Dominant 4
D017202||Myocardial Ischemia|Disease, Ischemic Heart|Diseases, Ischemic Heart|Heart Disease, Ischemic|Heart Diseases, Ischemic|Ischemia, Myocardial|Ischemias, Myocardial|Ischemic Heart Disease|Ischemic Heart Diseases|Myocardial Ischemias
C563420||Epiphyseal Dysplasia, Multiple, with Myopathy
C564751||VACTERL Association With Hydrocephalus|VACTERL-H
D050723||Fractures, Bone|Bone, Broken|Bone Fracture|Bone Fractures|Bones, Broken|Broken Bone|Broken Bones|Fracture, Bone
C537176||Parkinson disease 3
C564750||Vascular Hyalinosis
C565840|603830||Long Qt Syndrome 3|LONG QT SYNDROME 2/3, DIGENIC, INCLUDED;LQT2/3, DIGENIC, INCLUDED|LONG QT SYNDROME 3/6, DIGENIC, INCLUDED;LQT3/6, DIGENIC, INCLUDED|LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT3
C537174||PARC syndrome|Poikiloderma, Alopecia, Retrognathism, and Cleft palate
D050724||Fractures, Cartilage|Cartilage Fracture|Cartilage Fractures|Fracture, Cartilage
D006529||Hepatomegaly|Enlarged Liver|Liver, Enlarged
C563424||Diabetes Mellitus, Permanent Neonatal, With Neurologic Features
C564755||Usher Syndrome, Type Ib
C563423||Proprotein Convertase 1 3 Deficiency|Obesity and Endocrinopathy due to Impaired Processing of Prohormones
C564753||Usher Syndrome, Type IC|Usher Syndrome, Type I, Acadian Variety
D007859||Learning Disorders|Academic Disorder, Developmental|Academic Disorders, Developmental|Adult Learning Disorder|Adult Learning Disorders|Developmental Academic Disorder|Developmental Academic Disorders|Developmental Disorders of Scholastic Skills|Disabilities, Learning|Disability, Learning|Disturbance, Learning|Disturbances, Learning|Learning Disabilities|Learning Disability|Learning Disorder|Learning Disorder, Adult|Learning Disorders, Adult|Learning Disturbance|Learning Disturbances|Scholastic Skills Development Disorders
C564752||Vater Association With Hydrocephalus|Vater Association With Macrocephaly And Ventriculomegaly
D006525||Hepatitis, Viral, Human
C563428||Long Qt Syndrome 4
C564759||Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
D020833||Diffuse Axonal Injury|Axonal Injuries, Diffuse|Axonal Injury, Diffuse|DAI (Diffuse Axonal Injury)|DAIs (Diffuse Axonal Injury)|Diffuse Axonal Injuries|Injuries, Diffuse Axonal|Injury, Diffuse Axonal
C535314|273750||Miller-McKusick-Malvaux-Syndrome (3M Syndrome)|3M1|3-M Syndrome|3M Syndrome|Dolichospondylic Dysplasia|Gloomy Face Syndrome|GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME, INCLUDED|Le Merrer Syndrome|Three-M Slender-Boned Nanism|Three M Syndrome|Three M Syndrome 1|Yakut Short Stature Syndrome
C563426||Cataract, Pulverulent
C564757||Ulnar Hypoplasia with Mental Retardation
D006524||Hepatitis, Viral, Animal
D007855||Lead Poisoning|Lead Poisonings|Poisoning, Lead|Poisonings, Lead
C564756||Ulnar Agenesis and Endocardial Fibroelastosis
D006521||Hepatitis, Chronic|Chronic Active Hepatitis|Chronic Hepatitis|Chronic Hepatitis, Cryptogenic|Chronic Persistent Hepatitides|Chronic Persistent Hepatitis|Cryptogenic Chronic Hepatitis|Hepatitis, Chronic Active|Hepatitis, Chronic, Cryptogenic|Hepatitis, Chronic Persistent|Hepatitis, Cryptogenic Chronic
D000474|203500||Alkaptonuria|AKU|Alcaptonuria|Alcaptonurias|Homogentisic Acid Oxidase Deficiency|Homogentisic Acidura
D006522||Hepatitis, Infectious Canine|Canine Hepatitides, Infectious|Canine Hepatitis, Infectious|Canine Infectious Hepatitides|Canine Infectious Hepatitis|Hepatitides, Canine Infectious|Hepatitides, Infectious Canine|Hepatitis, Canine Infectious|Infectious Canine Hepatitides|Infectious Canine Hepatitis|Infectious Hepatitides, Canine|Infectious Hepatitis, Canine
C537173||Parathyroid cancer, adult|Parathyroid carcinoma, adult|Parathyroid neoplasm, adult
C537170||Paraomphalocele|Paraomphalocele, Epigastric|Paraomphalocele, Hypogastric
D006520||Hepatitis, Animal|Animal Hepatitides|Animal Hepatitis|Hepatitides, Animal
C563429||Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
C537171||Paraquat lung|Paraquat induced lung disease
C536521|276950||VACTERL hydrocephaly|VACTERL ASSOCIATION WITH HYDROCEPHALUS|VACTERL association with hydrocephaly|VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED|VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INCLUDED
C564503|300498||Mental Retardation, X-Linked 45|MRX45
D019838||Neck Injuries|Injuries, Neck|Injury, Neck|Neck Injury
C563396|601071||Deafness, Autosomal Recessive 9|Auditory Neuropathy, Autosomal Recessive, 1|AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE, INCLUDED|AUNB1, INCLUDED|DFNB9|Neurosensory Nonsyndromic Recessive Deafness 9|NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9;NSRD9 AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, INCLUDED|NSRAN, INCLUDED
608765||SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3|IS3
C563431||Wiskott-Aldrich Syndrome, Autosomal Dominant Form
C564762||Tricarboxylic Acid Cycle, Defect of
C537187||Pili annulati|Ringed hair
C563430||Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
C537188||Pili multigemini|Compound hairs
C564760||Trichoodontoonychial Dysplasia
100050||AARSKOG SYNDROME, AUTOSOMAL DOMINANT
278150|D007039||Hypotrichosis|AH|ARWH1, INCLUDED|ARWH2, INCLUDED|HTL|Hypotrichoses|HYPOTRICHOSIS 10|HYPOTRICHOSIS 6|HYPOTRICHOSIS 7|HYPOTRICHOSIS 8|HYPOTRICHOSIS 9|HYPOTRICHOSIS, AUTOSOMAL RECESSIVE|HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE|HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1|HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2|HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3;LAH3 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED|HYPOTRICHOSIS, TOTAL, MARI TYPE WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED|HYPT10|HYPT6|HYPT7|HYPT8|HYPT9|LAH|LAH1|LAH2|WH/HT, INCLUDED
C537186||Pigmented purpuric eruption|Familial pigmented purpuric eruption|Familial Schamberg&apos;s disease|Schamberg purpura
D050738||Mesomycetozoea Infections|Infection, Mesomycetozoea|Infections, Mesomycetozoea|Mesomycetozoea Infection
D005208||Fasciitis|Fasciitides|Fascitides|Fascitis
C564765||Thyrotropin, Biologically Inactive
D005207||Fasciculation|Benign Fasciculation|Benign Fasciculations|Fasciculation, Benign|Fasciculation, Muscular|Fasciculation, Neural|Fasciculations|Fasciculations, Benign|Fasciculation, Skeletal Muscle|Fasciculations, Muscular|Fasciculations, Neural|Fasciculations, Skeletal Muscle|Fasciculations, Tongue|Fasciculation, Tongue|Muscle Fasciculation, Skeletal|Muscle Fasciculations, Skeletal|Muscular Fasciculation|Muscular Fasciculations|Neural Fasciculation|Neural Fasciculations|Skeletal Muscle Fasciculation|Skeletal Muscle Fasciculations|Tongue Fasciculation|Tongue Fasciculations
D007869||Leg Injuries|Injuries, Leg|Injury, Leg|Leg Injury
C564764||Tibia, Absence of, with Congenital Deafness
C537189||Rufous oculocutaneous albinism|Albinism III|Albinism, Oculocutaneous, Type III|Oculocutaneous Albinism, Type III|Rufous OCA|Xanthism
D007868||Leg Dermatoses|Dermatoses, Leg|Dermatosis, Leg|Leg Dermatosis
C564769||Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
D005203||Farmer&apos;s Lung|Farmer Lung|Farmers Lung|Farmer&apos;s Lungs|Mushroom Worker Lung|Mushroom Worker&apos;s Lung|Mushroom Workers Lung|Mushroom Worker&apos;s Lungs
C537180||Familial paroxysmal dystonia|Dystonia, familial paroxysmal|Paroxysmal kinesigenic choreoathetosis
C567127|611718||Hypomagnesemia 4, Renal|HOMG4|Hypomagnesemia, Renal, Normocalciuric
C564768||Thymic Aplasia with Fetal Death
D020821||Dystonic Disorders|Adult-Onset Dystonia|Adult Onset Dystonias|Adult-Onset Dystonias|Adult Onset Idiopathic Focal Dystonias|Adult-Onset Idiopathic Focal Dystonias|Adult Onset Idiopathic Torsion Dystonias|Adult-Onset Idiopathic Torsion Dystonias|Autosomal Dominant Familial Dystonia|Autosomal Recessive Familial Dystonia|Childhood Onset Dystonia|Childhood Onset Dystonias|Dystonia, Adult-Onset|Dystonia, Childhood Onset|Dystonia Disorder|Dystonia Disorders|Dystonia, Familial|Dystonia, Focal|Dystonia, Hereditary|Dystonia, Idiopathic Familial|Dystonia, Primary|Dystonia, Psychogenic|Dystonias, Adult-Onset|Dystonias, Childhood Onset|Dystonia, Secondary|Dystonias, Familial|Dystonias, Focal|Dystonias, Hereditary|Dystonias, Idiopathic Familial|Dystonia, Sporadic|Dystonias, Primary|Dystonias, Psychogenic|Dystonias, Secondary|Dystonias, Sporadic|Dystonic Disorder|Familial Dystonia|Familial Dystonia, Autosomal Dominant|Familial Dystonia, Autosomal Recessive|Familial Dystonia, Idiopathic|Familial Dystonias|Familial Dystonias, Idiopathic|Focal Dystonia|Focal Dystonias|Hereditary Dystonia|Hereditary Dystonias|Idiopathic Familial Dystonia|Idiopathic Familial Dystonias|Primary Dystonia|Primary Dystonias|Pseudodystonia|Pseudodystonias|Psychogenic Dystonia|Psychogenic Dystonias|Secondary Dystonia|Secondary Dystonias|Sporadic Dystonia|Sporadic Dystonias|Writer Cramp|Writer&apos;s Cramp|Writers Cramp
D020820||Dyskinesias|Abnormal Movement|Abnormal Movements|Asterixis|Ballismus|Dyskinesia|Hemiballism|Hemiballismus|Involuntary Movement|Involuntary Movements|Movement, Abnormal|Movement, Involuntary|Movements, Abnormal|Movements, Involuntary
300551|C564489||Mental Retardation, X-Linked 78|MRX78
C537183||Robinow Sorauf syndrome|Acrocephalosyndactyly, Robinow-Sorauf type|Craniosynostosis-bifid hallux syndrome|Robinow-Sorauf Syndrome
D003550|219700||Cystic Fibrosis|CF|Cystic Fibrosis of Pancreas|Cystic Fibrosis, Pancreatic|Cystic Fibrosis, Pulmonary|Fibrocystic Disease of Pancreas|Fibrosis, Cystic|Mucoviscidosis|Pancreas Fibrocystic Disease|Pancreas Fibrocystic Diseases|Pancreatic Cystic Fibrosis|Pulmonary Cystic Fibrosis
D006530||Hepatorenal Syndrome|Syndrome, Hepatorenal
D007870||Leg Length Inequality|Inequalities, Leg Length|Inequality, Leg Length|Leg Length Inequalities|Length Inequalities, Leg|Length Inequality, Leg
D007871||Leg Ulcer|Leg Ulcers|Ulcer, Leg|Ulcers, Leg
D020828||Pseudobulbar Palsy|Bulbar Palsies, Spastic|Bulbar Palsy, Spastic|Dysarthria, Pseudobulbar|Dysarthrias, Pseudobulbar|Mutism, Pseudobulbar|Mutisms, Pseudobulbar|Palsies, Pseudobulbar|Palsies, Spastic Bulbar|Palsy, Pseudobulbar|Palsy, Spastic Bulbar|Paralyses, Pseudobulbar|Paralysis, Pseudobulbar|Pareses, Pseudobulbar|Paresis, Pseudobulbar|Pseudobulbar Dysarthria|Pseudobulbar Dysarthrias|Pseudobulbar Mutism|Pseudobulbar Mutisms|Pseudobulbar Palsies|Pseudobulbar Paralyses|Pseudobulbar Paralysis|Pseudobulbar Pareses|Pseudobulbar Paresis|Pseudobulbar Syndrome|Pseudobulbar Syndromes|Spastic Bulbar Palsies|Spastic Bulbar Palsy|Syndrome, Pseudobulbar|Syndromes, Pseudobulbar
D062706||Prodromal Symptoms|Characteristic, Prodromal|Characteristics, Prodromal|Period, Prodromal|Periods, Prodromal|Prodromal Characteristic|Prodromal Characteristics|Prodromal Period|Prodromal Periods|Prodromal Sign|Prodromal Signs|Prodromal Stage|Prodromal Stages|Prodromal State|Prodromal States|Prodromal Symptom|Prodromal Syndrome|Prodromal Syndromes|Sign, Prodromal|Signs, Prodromal|Stage, Prodromal|Stages, Prodromal|State, Prodromal|States, Prodromal|Symptom, Prodromal|Symptoms, Prodromal|Syndrome, Prodromal|Syndromes, Prodromal
607426||COENZYME Q10 DEFICIENCY, PRIMARY, 1|COENZYME Q DEFICIENCY 1|COQ10D1|CoQ10 DEFICIENCY, PRIMARY, 1|CoQ DEFICIENCY 1|UBIQUINONE DEFICIENCY 1
D019846||Miller Fisher Syndrome|Fisher Syndrome|Guillain Barre Syndrome, Miller Fisher Variant|Guillain-Barre Syndrome, Miller Fisher Variant|Miller-Fisher Syndrome|Miller Fisher Variant of Guillain Barre Syndrome|Ophthalmoplegia, Ataxia and Areflexia Syndrome|Syndrome, Fisher|Syndrome, Miller Fisher|Syndrome, Miller-Fisher
D018512||Parasitemia|Parasitemias
C567364|612285||Joubert Syndrome 9|JBTS9|JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED
C538442||Aase Smith syndrome 2|Aase-Smith Syndrome II|Aase syndrome|Anemia and triphalangeal thumbs|Anemia congenital erythroid hypoplastic|Anemia, Congenital Erythroid Hypoplastic|Aregenerative anemia, chronic congenital|Congenital anemia and triphalangeal thumbs|Diamond-Blackfan Anemia 6|Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type
C537110||Chromosome 21, monosomy 21q22|Deletion 21q22|Monosomy 21q22
C567767|613078||Nijmegen Breakage Syndrome-Like Disorder|Microcephaly and Spontaneous Chromosome Instability without Immunodeficiency|NBSLD|NBS-LIKE DISORDER|RAD50 Deficiency
C563402||Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
C564733||Trichothiodystrophy with Sun Sensitivity
C538446||Speech disturbance - use of faulty phrasing and unrelated words
C538445||Clear-cell metastatic renal cell carcinoma|Clear cell RCC|Cystic-multilocular variant
C537115||Lenz Majewski hyperostotic dwarfism|Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis|Lenz-Majewski Hyperostotic Dwarfism|Multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis
C563400||Usher Syndrome, Type ID
D006505||Hepatitis|Hepatitides
C564731||Xeroderma Pigmentosum IX|Xeroderma Pigmentosum, Complementation Group I|XP9|XP, Group I
C538444||CTNL1
D006506||Hepatitis A|Hepatitides, Infectious|Hepatitis, Infectious|Infectious Hepatitides|Infectious Hepatitis
C564730||Xylosidase Deficiency
C538443||Restless legs syndrome 1|Acromelalgia hereditary
C563405||Migraine, Sporadic Hemiplegic
D006504||Hepatic Veno-Occlusive Disease|Disease, Hepatic Veno-Occlusive|Hepatic Veno Occlusive Disease|Hepatic Veno-Occlusive Diseases|Sinusoidal Obstruction Syndrome|Syndrome, Sinusoidal Obstruction|Veno Occlusive Disease, Hepatic|Veno-Occlusive Disease, Hepatic
C564736||Wolman Disease with Hypolipoproteinemia and Acanthocytosis
D007835||Lassa Fever|Fever, Lassa|Fevers, Lassa|Lassa Fevers
C536382|133780||Exudative vitreoretinopathy 1|Criswick-Schepens syndrome|CRISWICK-SCHEPENS SYNDROME RETINOPATHY OF PREMATURITY, INCLUDED|EVR1|Exudative vitreoretinopathy, familial, autosomal dominant|Fevr, Autosomal Dominant|ROP, INCLUDED
D006501||Hepatic Encephalopathy|Coma, Hepatic|Comas, Hepatic|Encephalopathies, Hepatic|Encephalopathies, Hepatocerebral|Encephalopathies, Portal-Systemic|Encephalopathies, Portosystemic|Encephalopathy, Hepatic|Encephalopathy, Hepatocerebral|Encephalopathy, Portal Systemic|Encephalopathy, Portal-Systemic|Encephalopathy, Portosystemic|Fulminant Hepatic Failure with Cerebral Edema|Hepatic Coma|Hepatic Comas|Hepatic Encephalopathies|Hepatic Stupor|Hepatic Stupors|Hepatocerebral Encephalopathies|Hepatocerebral Encephalopathy|Portal-Systemic Encephalopathies|Portal Systemic Encephalopathy|Portal-Systemic Encephalopathy|Portosystemic Encephalopathies|Portosystemic Encephalopathy|Stupor, Hepatic|Stupors, Hepatic
C564735||Woolly Hair, Autosomal Recessive
C563403||Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
C564734||Trichothiodystrophy, Type 1
C564739||Vitiligo, Progressive, with Mental Retardation and Urethral Duplication
C563407||Portal Vein, Cavernous Transformation Of
C564738||Pontocerebellar Hypoplasia Type 2A|Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy|Volendam Neurodegenerative Disease
D020819||Perimeningeal Infections|Infection, Parameningeal|Infection, Perimeningeal|Infections, Parameningeal|Infections, Perimeningeal|Parameningeal Infection|Parameningeal Infections|Perimeningeal Infection
D020818||Neuroschistosomiasis|Central Nervous System Schistosomiasis|Myelitis, Schistosomal|Myelopathies, Schistosomal|Myelopathy, Schistosomal|Myeloradiculopathies, Schistosomal|Myeloradiculopathy, Schistosomal|Neuroschistosomiases|Schistosomal Myelitis|Schistosomal Myelopathies|Schistosomal Myelopathy|Schistosomal Myeloradiculopathies|Schistosomal Myeloradiculopathy|Schistosomiasis, Central Nervous System
D020814||Meningitis, Escherichia coli|Escherichia coli Meningitides|Escherichia coli Meningitis|Meningitides, Escherichia coli
C537108||Chromosome 21 monosomy|Monosomy 21
C538437||Immuno-hemolytic anemia|Familial auto-immune hemolytic anemia
C538436||Auditory perceptual impairment
C563363|601238||Cerebellar Ataxia, Cayman Type|ATCAY
C537709|608233||Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome 2|HPS2|Platelet defects and oculocutaneous albinism
C565193|610713||Brachydactyly-Syndactyly Syndrome|BDSD
C537109||Chromosome 21 ring|Ring 21, Chromosome
C537121||Short stature syndrome, Brussels type|Mievis Verellen-Dumoulin syndrome
248500|D008363||alpha-Mannosidosis|alpha-D-Mannosidase Deficiencies, Lysosomal|alpha-D-Mannosidase Deficiency, Lysosomal|Alpha-D-Mannosidosis|alpha Mannosidase B Deficiency|Alpha-Mannosidase B Deficiency|alpha-Mannosidase Deficiencies|alpha Mannosidase Deficiency|alpha-Mannosidase Deficiency|alpha-Mannosidoses|alpha Mannosidosis|ALPHA-MANNOSIDOSIS|Alpha-Mannosidosis, Type I|Deficiencies, alpha-Mannosidase|Deficiencies, Lysosomal alpha-D-Mannosidase|Deficiency, alpha-Mannosidase|Deficiency, Lysosomal alpha-D-Mannosidase|Lysosomal Alpha B Mannosidosis|Lysosomal alpha-D-Mannosidase Deficiencies|Lysosomal alpha D Mannosidase Deficiency|Lysosomal alpha-D-Mannosidase Deficiency|Mannosidosis, alpha B Lysosomal|Mannosidosis, alpha B, Lysosomal|MANSA
C537122||Opsismodysplasia
C563413||Hydrocephalus, Skeletal Anomalies, and Mental Disturbance
D007849||Laurence-Moon Syndrome|Laurence Moon Biedl Syndrome|Laurence-Moon-Biedl Syndrome|Laurence Moon Syndrome|Syndrome, Laurence-Moon|Syndrome, Laurence-Moon-Biedl
C538457||Segmental glomerulosclerosis|Focal sclerosis with hyalinosis|Focal segmental glomerulosclerosis 1|FSGS1|Glomerulosclerosis, Focal Segmental, 1
C537125||Optic atrophy, X-linked|Optic atrophy 2|Optic atrophy, non-Leber type, with early onset
211600|C535933||Cholestasis, progressive familial intrahepatic 1|BRIC1|Byler disease|Byler&apos;s disease|Cholestasis, benign recurrent intrahepatic 1|Cholestasis, Benign Recurrent Intrahepatic, 1|Cholestasis, fatal intrahepatic|Cholestasis, Progressive Familial Intrahepatic, 1|FIC1 deficiency|PFIC1|Progressive familial intrahepatic cholestasis|Progressive familial intrahepatic cholestasis type 1 (PFIC 1)|Progressive familial intrahepatic cholestasis type 1 (PFIC1)|Summerskill syndrome
D007562|123400||Creutzfeldt-Jakob Syndrome|CJD|CJD (Creutzfeldt Jakob Disease)|CJD (Creutzfeldt-Jakob Disease)|Creutzfeldt Jacob Disease|Creutzfeldt Jakob Disease|Creutzfeldt-Jakob Disease|Creutzfeldt Jakob Disease, Familial|Creutzfeldt-Jakob Disease, Familial|CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED|CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT, INCLUDED|Creutzfeldt Jakob Disease, New Variant|Creutzfeldt-Jakob Disease, New Variant|Creutzfeldt-Jakob Diseases, Familial|Creutzfeldt Jakob Disease, Variant|Creutzfeldt-Jakob Disease, Variant|CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED|Creutzfeldt Jakob Syndrome|Disease, Creutzfeldt Jacob|Disease, Creutzfeldt-Jakob|Disease, Familial Creutzfeldt-Jakob|Disease, Jakob-Creutzfeldt|Encephalopathies, Subacute Spongiform|Encephalopathy, Subacute Spongiform|Familial Creutzfeldt Jakob Disease|Familial Creutzfeldt-Jakob Disease|Familial Creutzfeldt-Jakob Diseases|Jacob Disease, Creutzfeldt|Jakob Creutzfeldt Disease|Jakob-Creutzfeldt Disease|Jakob Creutzfeldt Syndrome|Jakob-Creutzfeldt Syndrome|New Variant Creutzfeldt Jakob Disease|New Variant Creutzfeldt-Jakob Disease|sCJD, INCLUDED|Spongiform Encephalopathies, Subacute|Spongiform Encephalopathy, Subacute|Subacute Spongiform Encephalopathies|Subacute Spongiform Encephalopathy|Syndrome, Creutzfeldt-Jakob|Syndrome, Jakob-Creutzfeldt|Variant Creutzfeldt Jakob Disease|Variant Creutzfeldt-Jakob Disease|vCJD, INCLUDED|V CJD (Variant Creutzfeldt Jakob Disease)|V-CJD (Variant-Creutzfeldt-Jakob Disease)
D006519||Hepatitis, Alcoholic|Alcoholic Hepatitis|Alcoholic Hepatitis, Chronic|Chronic Alcoholic Hepatitides|Chronic Alcoholic Hepatitis|Hepatitis, Alcoholic, Chronic
C564742||Chondrodysplasia Punctata with Coagulation Factor Deficiency
C563414||Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
C537774|601202||Anterior polar cataract 2|CATARACT 24|CATARACT 24, ANTERIOR POLAR|Cataract, anterior polar 2|Cataract, Anterior Polar, 2|CTAA2|CTRCT24
C563661|610805||Renal Hypodysplasia, Nonsyndromic, 1|CAKUT|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO|RENAL HYPODYSPLASIA, NONSYNDROMIC, 1|RHDNS1
D007842||Lathyrism|Neurolathyrism
D020809||Central Nervous System Helminthiasis|Cerebral Helminthiasis|Helminthiasis, Central Nervous System|Helminthiasis, Cerebral
D020808||Central Nervous System Protozoal Infections|Amebic Meningoencephalitides|Amebic Meningoencephalitis|Cerebral Protozoal Infection|Cerebral Protozoal Infections|Infection, Central Nervous System, Protozoal|Infection, Cerebral Protozoal|Infections, Cerebral Protozoal|Infections, Protozoal, Central Nervous System|Meningoencephalitides, Amebic|Meningoencephalitides, Protozoal|Meningoencephalitis, Amebic|Meningoencephalitis, Protozoal|Protozoal Infection, Cerebral|Protozoal Infections, Central Nervous System|Protozoal Infections, Cerebral|Protozoal Meningoencephalitides|Protozoal Meningoencephalitis
D020807||Central Nervous System Parasitic Infections|Infections, Central Nervous System, Parasitic|Infections, Parasitic, Central Nervous System|Parasitic Infections, Central Nervous System
D020806||Central Nervous System Bacterial Infections|Bacterial Infections, Central Nervous System|Infections, Bacterial, Central Nervous System
D020805||Central Nervous System Viral Diseases|Central Nervous System Viral Infections|CNS Infections, Viral|CNS Infection, Viral|Infections, CNS, Viral|Infections, Viral CNS|Infection, Viral CNS|Viral CNS Infection|Viral CNS Infections|Viral Diseases, Central Nervous System|Viral Infections, Central Nervous System
D020804||Encephalitis, Varicella Zoster|Encephalitis, Herpes Zoster|Encephalitis, Human Herpesvirus 3|Encephalitis, Varicella|Encephalitis, VZ Virus|Herpes Zoster Encephalitis|Herpes Zoster Meningoencephalitis|Meningoencephalitis, Herpes Zoster|Varicella Encephalitides|Varicella Encephalitis|Varicella Zoster Encephalitis|Virus Encephalitis, VZ|Zoster Encephalitis, Herpes|Zoster Encephalitis, Varicella
D020802||Epidural Abscess|Abscess, Cranial Epidural|Abscess, Cranial Extradural|Abscess, Epidural|Abscesses, Intracranial Extradural|Abscess, Extradural|Abscess, Intracranial Epidural|Abscess, Intracranial Extradural|Abscess, Spinal Epidural|Abscess, Spinal Extradural|Cranial Epidural Abscess|Cranial Extradural Abscess|Epidural Abscess, Cranial|Epidural Abscess, Intracranial|Epidural Abscess, Spinal|Extradural Abscess|Extradural Abscesses, Intracranial|Extradural Abscess, Intracranial|Extradural Abscess, Spinal|Intracranial Epidural Abscess|Intracranial Extradural Abscess|Intracranial Extradural Abscesses|Spinal Epidural Abscess|Spinal Extradural Abscess
C537118||Leri pleonosteosis|Leri&apos;s pleonosteosis|Leri type pleonosteosis
300259||MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED|MTBSX
C537133||Orofaciodigital syndrome 4|Baraitser-Burn syndrome|OFD Syndrome, Baraitser-Burn Type|OFD Syndrome With Tibial Defects|Oral Facial Digital Syndrome, Type IV|Orofaciodigital Syndrome IV|Orofaciodigital syndrome with tibial dysplasia
D007818||Laryngeal Diseases|Disease, Laryngeal|Disease, Larynx|Diseases, Laryngeal|Diseases, Larynx|Laryngeal Disease|Laryngeal Perichondritides|Laryngeal Perichondritis|Larynx Disease|Larynx Diseases|Perichondritides, Laryngeal|Perichondritis, Laryngeal
608264|C564266||Deafness, Autosomal Recessive 40|DFNB40
C537130||Optic nerve hypoplasia, familial bilateral|Familial bilateral optic nerve hypoplasia
D007819||Laryngeal Edema|Edema, Laryngeal|Edemas, Laryngeal|Laryngeal Edemas
C538461||Supravalvar aortic stenosis, eisenberg type
C537131||Orbital lymphoma|Lymphoma of the orbit|Primary orbital lymphoma
D011081||Polychondritis, Relapsing|Atrophic Polychondritides, Chronic|Atrophic Polychondritis, Chronic|Chronic Atrophic Polychondritides|Chronic Atrophic Polychondritis|Polychondritides, Chronic Atrophic|Polychondritides, Relapsing|Polychondritis, Chronic Atrophic|Relapsing Polychondritides|Relapsing Polychondritis
D007816||Larva Migrans, Visceral|Larva Migran, Visceral|Migrans, Visceral Larva|Migran, Visceral Larva|Visceral Larva Migran|Visceral Larva Migrans|Visceral Larva Migrans Syndrome
C537137||Orstavik Lindemann Solberg syndrome|Congenital heart defects, hamartomas of tongue, and polysyndactyly
D007815||Larva Migrans|Creeping Eruption|Creeping Eruptions|Cutaneous Larva Migrans|Dew Itch|Dew Itchs|Eruption, Creeping|Eruptions, Creeping|Ground Itch|Ground Itchs|Itch, Dew|Itch, Ground|Itchs, Dew|Itchs, Ground|Larva Migrans, Cutaneous|Larva Migrans, Ocular|Ocular Larva Migrans
C538465||HLA class 1 deficiency
C564714||Spondyloepimetaphyseal Dysplasia, X-Linked|SEMD, X-Linked
C564712||Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
C563614|613688||Long Qt Syndrome 2|LONG QT SYNDROME 1/2, DIGENIC, INCLUDED;LQT1/2, DIGENIC, INCLUDED|LONG QT SYNDROME 2/3, DIGENIC, INCLUDED;LQT2/3, DIGENIC, INCLUDED|LONG QT SYNDROME 2/5, DIGENIC, INCLUDED;LQT2/5, DIGENIC, INCLUDED|LONG QT SYNDROME 2/9, DIGENIC, INCLUDED;LQT2/9, DIGENIC, INCLUDED|LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT2
C564716||X Inactivation, Familial Skewed, 1
C537710|153400||Lymphedema distichiasis syndrome|Hereditary lymphedema-distichiasis syndrome|Lymphedema-Distichiasis Syndrome|Lymphedema with distichiasis|LYMPHEDEMA WITH DISTICHIASIS LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED
D007926|300322||Lesch-Nyhan Syndrome|Choreoathetosis Self Mutilation Hyperuricemia Syndrome|Choreoathetosis Self-Mutilation Hyperuricemia Syndrome|Choreoathetosis Self Mutilation Syndrome|Choreoathetosis Self-Mutilation Syndrome|Choreoathetosis Self-Mutilation Syndromes|Complete HGPRT Deficiency Disease|Complete HPRT Deficiencies|Complete HPRT Deficiency|Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency|Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency|Deficiencies, Complete HPRT|Deficiencies, HGPRT|Deficiencies, Hypoxanthine Phosphoribosyltransferase|Deficiencies, Total HPRT|Deficiency, Complete HPRT|Deficiency Disease, Complete HGPRT|Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase|Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase|Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase|Deficiency, HGPRT|Deficiency, Hypoxanthine Phosphoribosyltransferase|Deficiency of Guanine Phosphoribosyltransferase|Deficiency of Hypoxanthine Phosphoribosyltransferase|Deficiency, Total HPRT|Guanine Phosphoribosyltransferase Deficiencies|Guanine Phosphoribosyltransferase Deficiency|HGPRT Deficiencies|HGPRT Deficiency|HGPRT Deficiency Disease, Complete|HPRT1 DEFICIENCY|HPRT Deficiencies, Complete|HPRT Deficiencies, Total|HPRT DEFICIENCY|HPRT Deficiency, Complete|HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED|HPRT Deficiency, Total|Hyperuricemias, X-Linked|Hyperuricemias, X-Linked Primary|Hyperuricemia Syndrome, Juvenile|Hyperuricemia Syndrome, Primary|Hyperuricemia Syndromes, Juvenile|Hyperuricemia Syndromes, Primary|Hyperuricemia, X-Linked|Hyperuricemia, X-Linked Primary|Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency|Hypoxanthine Guanine Phosphoribosyltransferase Deficiency|Hypoxanthine Phosphoribosyltransferase Deficiencies|Hypoxanthine Phosphoribosyltransferase Deficiency|Hypoxanthine Phosphoribosyl Transferase Deficiency Disease|Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease|Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases|Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome|Juvenile Hyperuricemia Syndrome|Juvenile Hyperuricemia Syndromes|Lesch Nyhan Disease|Lesch-Nyhan Disease|Lesch Nyhan Syndrome|LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT, INCLUDED|LNS|Phosphoribosyltransferase Deficiencies, Guanine|Phosphoribosyltransferase Deficiencies, Hypoxanthine|Phosphoribosyltransferase Deficiency, Guanine|Phosphoribosyltransferase Deficiency, Hypoxanthine|Primary Hyperuricemias, X-Linked|Primary Hyperuricemia Syndrome|Primary Hyperuricemia Syndromes|Primary Hyperuricemia, X-Linked|Self-Mutilation Syndrome, Choreoathetosis|Self-Mutilation Syndromes, Choreoathetosis|Syndrome, Choreoathetosis Self-Mutilation|Syndrome, Juvenile Hyperuricemia|Syndrome, Primary Hyperuricemia|Syndromes, Choreoathetosis Self-Mutilation|Syndromes, Juvenile Hyperuricemia|Syndromes, Primary Hyperuricemia|Total HPRT Deficiencies|Total HPRT Deficiency|Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency|Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency|X Linked Hyperuricemia|X-Linked Hyperuricemia|X-Linked Hyperuricemias|X Linked Primary Hyperuricemia|X-Linked Primary Hyperuricemia|X-Linked Primary Hyperuricemias
C538459||Ovarian gynandroblastoma
C538458||Rapidly progressive glomerulonephritis with pulmonary hemorrhage|Anti-glomerular basement membrane antibody disease|Glomerulonephritis - pulmonary hemorrhage|Pulmonary renal syndrome
C563353|601317||Deafness, Autosomal Dominant 11|DFNA11
C538475||Double cortex
607864|C564315||Caudal Duplication Anomaly
C537144||Osteoarthropathy of fingers familial|Osteoarthropathy Of Fingers, Familial|Thiemann epiphyseal disease|Thiemann&apos;s disease
D007829||Laryngostenosis|Acquired Laryngeal Stenoses|Acquired Laryngeal Stenosis|Acquired Subglottic Stenoses|Acquired Subglottic Stenosis|Congenital Subglottic Stenoses|Congenital Subglottic Stenosis|Laryngeal Stenoses|Laryngeal Stenoses, Acquired|Laryngeal Stenosis|Laryngeal Stenosis, Acquired|Laryngostenoses|Stenoses, Acquired Laryngeal|Stenoses, Acquired Subglottic|Stenoses, Congenital Subglottic|Stenoses, Laryngeal|Stenosis, Acquired Laryngeal|Stenosis, Acquired Subglottic|Stenosis, Congenital Subglottic|Stenosis, Laryngeal|Subglottic Stenoses, Acquired|Subglottic Stenoses, Congenital|Subglottic Stenosis, Acquired|Subglottic Stenosis, Congenital
C538472||Mesoectodermal dysplasia
C537142||Ossicular Malformations, familial|Familial middle ear ossicular anomalies|Familial ossicular malformations
C564722||Subcortical Band Heterotopia, X-Linked
D007827||Laryngitis|Laryngitides
C564721||Cardiomyopathy, Dilated, 3A|Cardiomyopathy, Dilated, X-Linked Fatal Infantile
C538478||Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
C537148||Hypodontia, X-linked|X-linked hypodontia
D007826||Laryngismus|Laryngeal Spasm|Laryngeal Spasms|Laryngospasm|Laryngospasms|Spasm, Laryngeal|Spasms, Laryngeal
C540770||Mitochondrial cytopathy
C564725||Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia
D004387|126900||Dupuytren Contracture|Contracture, Dupuytren|Contracture, Dupuytren&apos;s|DUPC1, INCLUDED|DUPUYTREN CONTRACTURE 1, INCLUDED|Dupuytren Disease|Dupuytren&apos;s Contracture|Dupuytrens Contracture|Dupuytren&apos;s Disease|Dupuytrens Disease|PLANTAR FIBROMAS, INCLUDED|PLANTAR FIBROMATOSIS, FAMILIAL, INCLUDED
C536863|609727||Spastic paraplegia 29, autosomal dominant|SPG29
C564724||Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism
D007822||Laryngeal Neoplasms|Cancer, Laryngeal|Cancer, Larynx|Cancer of Larynx|Cancer of the Larynx|Cancers, Laryngeal|Cancers, Larynx|Laryngeal Cancer|Laryngeal Cancers|Laryngeal Neoplasm|Larynx Cancer|Larynx Cancers|Larynx Neoplasm|Larynx Neoplasms|Neoplasm, Laryngeal|Neoplasm, Larynx|Neoplasms, Laryngeal|Neoplasms, Larynx
C564729||Ichthyosis, X-Linked, without Steroid Sulfatase Deficiency
605258|D053306||Hyper-IgM Immunodeficiency Syndrome|HIGM2|HIGM2 Syndrome|HIGM2 Syndromes|HIGM3|HIGM3 Syndrome|HIGM3 Syndromes|HIGM5|HIGM5 Syndrome|HIGM5 Syndromes|Hyper IgM Immunodeficiency Syndrome|Hyper-IgM Immunodeficiency Syndromes|Hyper IgM Immunodeficiency Syndrome Type 2|Hyper IgM Immunodeficiency Syndrome, Type 2|Hyper-IgM Immunodeficiency Syndrome Type 2|Hyper-IgM Immunodeficiency Syndrome, Type 2|Hyper IgM Immunodeficiency Syndrome Type 3|Hyper IgM Immunodeficiency Syndrome, Type 3|Hyper-IgM Immunodeficiency Syndrome Type 3|Hyper-IgM Immunodeficiency Syndrome, Type 3|Hyper IgM Immunodeficiency Syndrome Type 5|Hyper IgM Immunodeficiency Syndrome, Type 5|Hyper-IgM Immunodeficiency Syndrome Type 5|Hyper-IgM Immunodeficiency Syndrome, Type 5|Hyper IgM Syndrome|Hyper-IgM Syndrome|Hyper IgM Syndrome 2|Hyper-IgM Syndrome 2|Hyper IgM Syndrome 3|Hyper-IgM Syndrome 3|Hyper IgM Syndrome 5|Hyper-IgM Syndrome 5|Hyper-IgM Syndrome 5s|Hyper-IgM Syndromes|Immunodeficiency Syndrome, Hyper-IgM|Immunodeficiency Syndromes, Hyper-IgM|Immunodeficiency with Hyper IgM Syndrome|Immunodeficiency with Hyper-IgM Syndrome|Immunodeficiency with Hyper IgM, Type 2|Immunodeficiency with Hyper-IgM, Type 2|Immunodeficiency with Hyper IgM, Type 3|Immunodeficiency with Hyper-IgM, Type 3|Immunodeficiency with Hyper IgM, Type 5|Immunodeficiency with Hyper-IgM, Type 5|Syndrome, Hyper-IgM Immunodeficiency|Syndromes, Hyper-IgM Immunodeficiency
C563890|608641||Deafness, Autosomal Dominant 28|DFNA28
C536425|119100||Split-hand/foot malformation with long bone deficiency|Aplasia of tibia with ectrodactyly|Cleft hand absent tibia|Cleft Hand And Absent Tibia|Ectrodactyly with aplasia of long bones|SHFLD|SHFLD1|SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY|Split-Hand/Foot Malformation With Long Bone Deficiency 1|Tibial aplasia with split-hand/split-foot deformity
C564516|300423||Mental Retardation, X-Linked, with Epilepsy|MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE|MENTAL RETARDATION, X-LINKED, WITH EPILEPSY|MRXE|MRXSH
608716||MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE|MCPH5
C537138||Oslam syndrome
D011086||Polycythemia|Erythrocytoses|Erythrocytosis|Polycythemias
133700||EXOSTOSES, MULTIPLE, TYPE I|DIAPHYSEAL ACLASIS|EXT|EXT1|MULTIPLE CARTILAGINOUS EXOSTOSES|MULTIPLE OSTEOCHONDROMAS|OSTEOCHONDROMATOSIS
300534|C564494||Mental Retardation, X-Linked, Syndromic, Jarid1c-Related|MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE|MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED|MRXSCJ|MRXSJ
133701||EXOSTOSES, MULTIPLE, TYPE II|EXT2
D011180||Postmortem Changes|Adipocere|Algor Mortis|Change, Postmortem|Changes, Postmortem|Cruor|Livor Mortis|Postmortem Change
C564810||Spastic Paraplegia With Myoclonic Epilepsy
C538523||Free sialic acid storage disease|N-acetylneuraminic acid (NANA) storage disease (NSD)
C538521||Bilateral temporal lobe disorder|Memory loss, extreme sexual behavior, placidity, and visual distractibility|Post-encephalitic Kluver Bucy syndrome|Post-traumatic Kluver Bucy syndrome
D007911||Lentigo|Lentigines|Lentiginoses|Lentiginosis|Lentigos
C564811||Spastic Paraplegia 5a, Autosomal Recessive
C564817||Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
D061325||Hereditary Breast and Ovarian Cancer Syndrome|HBOC Syndrome|HBOC Syndromes|Syndrome, HBOC|Syndromes, HBOC
C564815||Spastic Ataxia
C535698|601887||Malignant hyperthermia susceptibility type 5|Malignant hyperpyrexia susceptibility type 5|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5|MHS5
C567091||Skin/Hair/Eye Pigmentation, Variation In, 9|Shep9|Skin/Hair/Eye Pigmentation 9, Brown/Nonbrown Eyes|Skin/Hair/Eye Pigmentation 9, Dark/Light Hair|Skin/Hair/Eye Pigmentation 9, Freckling And Burning|Skin/Hair/Eye Pigmentation 9, Red/Nonred Hair
C536736|189500||Witkop syndrome|Dysplasia of nails with hypodontia|ECTD3|ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE|ECTODERMAL DYSPLASIA 3, WITKOP TYPE|Nail Dysplasia With Hypodontia|TNS|Tooth and nail syndrome|Tooth-And-Nail Syndrome
C567203|612674||Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract|PHARC
C567093||Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly|Dauwerse Peters Syndrome
C564819||Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris
D010001|167250||Osteitis Deformans|Osseous Paget&apos;s Disease|Paget Disease, Bone|Paget Disease of Bone|PAGET DISEASE OF BONE 1|Pagets Disease, Bone|Paget&apos;s Disease of Bone|PDB|PDB1
C580055||Early-Onset Glaucoma|Hereditary Glaucoma
C567099||Mucolipidosis III Alpha Beta, Atypical
C567095||Epilepsy, Progressive Myoclonic 3
300614|C564472||Deafness, X-Linked 5|Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy|AUNX1|DFNX5
D011178||Postgastrectomy Syndromes|Postgastrectomy Syndrome|Syndrome, Postgastrectomy|Syndromes, Postgastrectomy
C567096||Skin/Hair/Eye Pigmentation, Variation In, 8|Shep8|Skin/Hair/Eye Pigmentation 8, Freckling
300367||THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA|XLTDA
C538400|601680||Distal arthrogryposis type 2B|Arthrogryposis, distal, type 2b|Arthrogryposis multiplex congenita, distal, type 2b|Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities|Arthrogryposis multiplex congenita type 2B|DA2B|Freeman-Sheldon Syndrome Variant|FSSV|Sheldon-Hall syndrome|SHS
D011191||Potassium Deficiency|Deficiencies, Potassium|Deficiency, Potassium|Potassium Deficiencies
C564821||Short Stature-Obesity Syndrome
C538534||Hypogonadotropic hypogonadism and anosmia, autosomal dominant
C538533||Juvenile giant cell arteritis|Juvenile cranial arteritis|Juvenile polymyalgia rheumatica
D007925||Leriche Syndrome|Leriche&apos;s Syndrome|Leriches Syndrome|Syndrome, Leriche|Syndrome, Leriche&apos;s
D007922||Leptospirosis|Leptospiroses
C564825||Sandhoff Disease, Adult Type
C564824||Second Metatarsal-Metacarpal Syndrome
C564823||Epilepsy, Benign Neonatal, Autosomal Recessive|Convulsions, Benign Familial Neonatal, Autosomal Recessive|Seizures, Benign Familial Neonatal, Autosomal Recessive
C564829||Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
C564827||Sandhoff Disease, Infantile Type
C564826||Sandhoff Disease, Juvenile Type
C567292|612469||Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome|Chromosome 11p13-P12 Deletion Syndrome|WAGRO|WAGRO Syndrome|WAGR Syndrome With Obesity
121700||CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT|CHED|CHED1|CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA|CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL|MAUMENEE CORNEAL DYSTROPHY
C566464|609637||Holoprosencephaly 5|HPE5
612318|C563016||Pseudofolliculitis Barbae|Ingrown Hairs|PFB|Pili Incarnati
D011183||Postoperative Complications|Complication, Postoperative|Complications, Postoperative|Postoperative Complication
C537806|203400||18-Hydroxylase deficiency|18-alpha hydroxylase deficiency|18-HYDROXYLASE DEFICIENCY|18-Oxidase Deficiency|Aldosterone deficiency 1|Aldosterone deficiency due to defect in 18-hydroxylase|ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE|ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE|ALDOSTERONE DEFICIENCY I|ALDOSTERONE DEFICIENCY II|Aldosterone Deficiency Type I|Aldosterone Deficiency Type II|CMO I Deficiency|CMO II Deficiency|Corticosterone methyloxidase type 1 deficiency|Corticosterone Methyloxidase Type I Deficiency|Corticosterone Methyloxidase Type II Deficiency|FHHA1A|FHHA1B|HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1|Hyperreninemic Hypoaldosteronism, Familial, Type I|Steroid 18-Hydroxylase Deficiency|Steroid 18-Oxidase Deficiency
D011186||Postphlebitic Syndrome|Disease, Postphlebitic|Diseases, Postphlebitic|Postphlebitic Disease|Postphlebitic Diseases|Postphlebitic Syndromes|Postphlebitic Ulcer|Postphlebitic Ulcers|Syndrome, Postphlebitic|Syndromes, Postphlebitic|Ulcer, Postphlebitic|Ulcers, Postphlebitic
C538525||Mitochondrial encephalopathy
D011185||Postpericardiotomy Syndrome|Postcommissurotomy Syndrome|Postcommissurotomy Syndromes|Postpericardiotomy Syndromes|Syndrome, Postcommissurotomy|Syndrome, Postpericardiotomy|Syndromes, Postcommissurotomy|Syndromes, Postpericardiotomy
C580065||Episodic Ataxia
C566510|609597||Parietal Foramina 2|PFM2
C580062||Epidermal Nevus|Epidermal Naevus
400042|C537587||Sertoli cell-only syndrome, Y-linked|HYPOSPERMATOGENESIS, INCLUDED|INCOMPLETE SERTOLI CELL-ONLY SYNDROME, INCLUDED|Sertoli cell-only syndrome, type 1|Sertoli Cell-Only Syndrome, Type I|SERTOLI CELL-ONLY SYNDROME, TYPE I SERTOLI CELL-ONLY SYNDROME, TYPE II, INCLUDED|SERTOLI CELL-ONLY SYNDROME, Y-LINKED|SPERMATOGENIC FAILURE, Y-LINKED, 1|SPGFY1
C538540||Hirschsprung disease 1|Hirschsprung disease type 1
108721||ATELOSTEOGENESIS, TYPE III|AO3|AOIII
109720|D008105||Liver Cirrhosis, Biliary|Biliary Cirrhosis|Biliary Cirrhosis, Primary|Biliary Cirrhosis, Primary, 1|BILIARY CIRRHOSIS, PRIMARY, 4|BILIARY CIRRHOSIS, PRIMARY, 5|Biliary Cirrhosis, Secondary|Cholangitis, Chronic Nonsuppurative Destructive|Cirrhosis, Biliary|Cirrhosis, Secondary Biliary|Liver Cirrhoses, Biliary|Liver Cirrhosis, Obstructive|Obstructive Liver Cirrhosis|PBC|PBC1|PBC4|PBC5|Primary Biliary Cirrhosis|Secondary Biliary Cirrhosis
C537213||Kohlschutter Tonz syndrome|Epilepsy and yellow teeth|Epilepsy dementia amelogenesis imperfecta|Epilepsy, Dementia, And Amelogenesis Imperfecta|Kohlschutter syndrome|Kohlschutter-Tonz Syndrome
C538544||Familial primary biliary cirrhosis
C537214||Konigsmark Knox Hussels syndrome|Deafness optic atrophy syndrome|Dominant congenital deafness and progressive optic nerve atrophy
C567069||Mental Retardation, X-Linked, With Brachydactyly And Macroglossia|Cabezas Syndrome|Cabezas X-Linked Mental Retardation Syndrome|Mental Retardation, X-Linked, Syndromic 15|Mental Retardation, X-Linked, With Short Stature, Small Testes, Muscle Wasting, And Tremor|MRXS15
300337||HYPOMELANOSIS OF ITO|HMI|INCONTINENTIA PIGMENTI ACHROMIANS|INCONTINENTIA PIGMENTI, TYPE I, FORMERLY|IP1, FORMERLY|IPA|ITO|ITO HYPOMELANOSIS
C538543||Preeclamptic toxemia
C537211||Kocher-Debre-Semelaigne syndrome|Kocher Debre Semelaigne disease
C566582|602088||Nephronophthisis 2|Nephronophthisis, Infantile|NPH2|NPHP2
C538542||Sexual precocity|Familial precocious puberty|Idiopathic sexual precocity
277470||PONTOCEREBELLAR HYPOPLASIA, TYPE 2A|PCH2|PCH2A|PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY|VOLENDAM NEURODEGENERATIVE DISEASE
D016471|608115||Ovarian Hyperstimulation Syndrome|Hyperstimulation Syndrome, Ovarian|Hyperstimulation Syndromes, Ovarian|OHSS|Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous|Ovarian Hyperstimulation Syndromes
C580039||Deoxyguanosine Kinase Deficiency|Dguok-Related Mitochondrial Dna Depletion Syndrome|Hepatocerebral Mitochondrial Dna Depletion Syndrome|Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
C537454|300062||Mental retardation, X-linked 14|Mental retardation, X-linked nonspecific, type 14|MRX14
D011151||Popliteal Cyst|Baker Cyst|Baker Cysts|Baker&apos;s Cyst|Cyst, Baker|Cyst, Popliteal|Cysts, Baker|Cysts, Popliteal|Popliteal Cysts
C567077||Acquired Protein S Deficiency
C565071|129150||Echo Virus 11 Sensitivity|E11S
C567076||17,20-Lyase Deficiency, Isolated|17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Complete|17-Alpha-Hydroxylase/17,20-Lyase Deficiency, Combined Partial
D012481||Salmonella Infections, Animal|Animal Salmonella Infection|Animal Salmonella Infections|Infection, Animal Salmonella|Infections, Animal Salmonella|Salmonella Infection, Animal
C567079||Deafness, Unilateral
D012488||Salpingitis|Salpingitides
C537208||Kniest like dysplasia lethal|Arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest-Like Dysplasia, Lethal|Lethal Kniest-like dysplasia
D007906||Lens Subluxation|Dislocation, Lens|Dislocations, Lens|Lens Dislocation|Lens Dislocation and Subluxation|Lens Dislocations|Lens Subluxations|Subluxation, Lens|Subluxations, Lens
C538550||Subvalvular aortic stenosis, Eisenberg type
C538556||Imerslund-Grasbeck syndrome|Enterocyte cobalamin malabsorption|Enterocyte intrinsic factor receptor, defect of|Megaloblastic Anemia 1
C537224||Sacral plexopathy
D007905||Lens Diseases|Disease, Lens|Diseases, Lens|Lens Disease
C537225||Sacrococcygeal dysgenesis association
C538554||diminished GALC activity
C537222||Sacral hemangiomas multiple congenital abnormalities
C538553||Familial subependymomas
C537223||Sacral meningocele conotruncal heart defects|Kousseff syndrome
C564802||Spinocerebellar Ataxia with Dysmorphism
C564807||Spinal Muscular Atrophy with Mental Retardation
D013494|601104||Supranuclear Palsy, Progressive|Ophthalmoplegia, Progressive Supranuclear|Palsy, Progressive Supranuclear|Progressive Supranuclear Ophthalmoplegia|Progressive Supranuclear Palsies|Progressive Supranuclear Palsy|PSNP1|PSP|Richardson&apos;s Syndrome|Richardson Syndrome|Steele Richardson Olszewski Disease|Steele-Richardson-Olszewski Disease|Steele Richardson Olszewski Syndrome|Steele-Richardson-Olszewski Syndrome|Supranuclear Ophthalmoplegia, Progressive|Supranuclear Palsies, Progressive|Supranuclear Palsy, Progressive, 1|Syndrome, Richardson&apos;s|Syndrome, Steele-Richardson-Olszewski
C564806||Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
C564805||Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures
C536446|218000||Corpus callosum agenesis neuronopathy|ACCPN|Agenesis of Corpus Callosum with Neuronopathy|Agenesis of Corpus Callosum with Peripheral Neuropathy|Agenesis of Corpus Callosum with Polyneuropathy|Agenesis of the corpus callosum with peripheral neuropathy|Andermann syndrome|Charlevoix disease|Corpus Callosum, Agenesis of, with Neuronopathy|Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum|Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
C567080||Warfarin Sensitivity
188890||TOBACCO ADDICTION, SUSCEPTIBILITY TO|CIGARETTE HABITUATION, SUSCEPTIBILITY TO|NICOTINE ADDICTION, SUSCEPTIBILITY TO|NICOTINE DEPENDENCE, SUSCEPTIBILITY TO|SMOKING HABIT, SUSCEPTIBILITY TO
C564809||Spastic Paresis, Glaucoma, and Mental Retardation
C564808||Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
C567509|611875||Brugada Syndrome 3|BRGDA3
C580044||Distal Hereditary Motor Neuropathy, Type Ii|Distal Hereditary Motor Neuronopathy, Type Ii
C562770|274800||Thyroid Dyshormonogenesis 4|Deiodinase Deficiency|Hypothyroidism, Congenital, due to Dyshormonogenesis, 4|Iodotyrosine Dehalogenase Deficiency|TDH4|Thyroid Hormonogenesis, Genetic Defect in, 4
D011164||Porphyrias|Disorder, Porphyrin|Disorders, Porphyrin|Porphyria|Porphyrin Disorder|Porphyrin Disorders
C564506|300489||Spinal Muscular Atrophy, Distal, X-Linked 3|DSMAX|SMAX3|Spinal Muscular Atrophy, Distal, X-Linked Recessive
187601|C536508||Thanatophoric dysplasia, type 2|Cloverleaf skull with thanatophoric dwarfism|TD2|Thanatophoric Dysplasia, Type Ii|Thanatophoric dysplasia with Kleeblattschaedel|Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull
C566500|609634||Migraine, Familial Hemiplegic, 3|FHM3
300354||MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT|CABEZAS SYNDROME|CABEZAS X-LINKED MENTAL RETARDATION SYNDROME|MENTAL RETARDATION, X-LINKED, SYNDROMIC 15|MRXS15|MRXSC
300351||GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1|GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2, INCLUDED|GRDX2, INCLUDED
C564702|606483||Charcot-Marie-Tooth Disease, Dominant Intermediate A|Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A|CMTDIA|DI-CMTA
C537219||Sackey Sakati Aur syndrome|Aur syndrome|Multiple dysmorphic features and pancytopenia|Pancytopenia multiple congenital anomalies
608265|C564265||Deafness, Autosomal Recessive 39|DFNB39
C567049||Pulmonary Alveolar Proteinosis, Acquired|Pulmonary Alveolar Lipoproteinosis, Acquired|Pulmonary Alveolar Proteinosis, Autoimmune
D059041||Plagiocephaly|Plagiocephalies
C563513|163800||Sick Sinus Syndrome 2, Autosomal Dominant|Atrial Fibrillation with Bradyarrhythmia|Sinus Bradycardia Syndrome, Familial, Autosomal Dominant|Sinus Node Disease, Familial, Autosomal Dominant|SSS2|SSS, AUTOSOMAL DOMINANT
D013798||Thecoma|Theca Cell Tumor|Theca Cell Tumors|Thecomas|Tumors, Theca Cell|Tumor, Theca Cell
D012467||Salivary Gland Fistula|Fistula, Salivary Gland|Fistulas, Salivary Gland|Gland Fistula, Salivary|Gland Fistulas, Salivary|Salivary Gland Fistulas
C580017||Congenital Plasminogen Deficiency|Hypoplasminogenemia
D012468||Salivary Gland Neoplasms|Cancer of Salivary Gland|Cancer of the Salivary Gland|Cancer, Salivary Gland|Cancers, Salivary Gland|Gland Neoplasm, Salivary|Gland Neoplasms, Salivary|Neoplasm, Salivary Gland|Neoplasms, Salivary Gland|Salivary Gland Cancer|Salivary Gland Cancers|Salivary Gland Neoplasm
C536370|206700||Aniridia cerebellar ataxia mental deficiency|Aniridia, Cerebellar Ataxia, And Mental Deficiency|ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION|Aniridia, partial-cerebellar ataxia-mental retardation|Aniridia, partial-cerebellar ataxia-oligophrenia|Gillespie syndrome
C580013||Congenital Hepatic Fibrosis|Congenital Fibrose Liver
C580011||Congenital Fiber-Type Disproportion|Cftdm|Congenital Myopathy with Fiber Type Disproportion
C567055||Sakoda Complex|Sakoda Spectrum|Sphenoethmoidal Encephalomeningocele, Agenesis of the Corpus Callosum, and Cleft Lip/Palate
C580012||Congenital Fibrosis of the Extraocular Muscles|Cfeom|Congenital External Ophthalmoplegia|Congenital Fibrosis of Extraocular Muscles|Congenital Fibrosis Syndrome|General Fibrosis Syndrome
C567351|612310||Premature Ovarian Failure 6|POF6
D013796||Thanatophoric Dysplasia|Dwarfisms, Thanatophoric|Dwarfism, Thanatophoric|Dysplasias, Thanatophoric|Dysplasia, Thanatophoric|Thanatophoric Dwarfism|Thanatophoric Dwarfisms|Thanatophoric Dysplasias|Thanatophoric Short Stature
D012465||Salivary Duct Calculi|Calculi, Salivary Duct|Calculus, Salivary Duct|Duct Calculi, Salivary|Duct Calculus, Salivary|Duct Stone, Salivary|Duct Stones, Salivary|Parotid Duct Calculi|Salivary Duct Calculus|Salivary Duct Stone|Salivary Duct Stones|Sialolithiases, Ductal|Sialolithiasis, Ductal|Stone, Salivary Duct|Stones, Salivary Duct|Submandibular Duct Calculi
C535576|314400||Cardiac valvular dysplasia, X-linked|CVD1|Myxomatous valvular dystrophy, X-linked|Valvular heart disease, congenital|XMVD
D012466||Salivary Gland Diseases|Disease, Salivary Gland|Diseases, Salivary Gland|Gland Disease, Salivary|Gland Diseases, Salivary|Salivary Gland Disease
D012480||Salmonella Infections|Infection, Salmonella|Infections, Salmonella|Salmonella Infection|Salmonelloses|Salmonellosis
C562851|601152||Hereditary Motor And Sensory Neuropathy VI|Charcot-Marie-Tooth Disease, Type 6|CMT6|HMSN6|HMSN VI|HSMN6|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI|Peripheral Neuropathy And Optic Atrophy
C537384|607855||Muscular dystrophy congenital, merosin negative|MDC1A|Merosin-deficient congenital muscular dystrophy|Merosin-negative congenital muscular dystrophy|Muscular Dystrophy, Congenital Merosin-Deficient|Muscular dystrophy, congenital, merosin-deficient 1A|Muscular Dystrophy, Congenital Merosin-Deficient, 1A|MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDED
D062688||Buschke-Lowenstein Tumor|Anogenital Type Verrucous Carcinoma|Buschke Lowenstein Tumor|Buschke L&#246;wenstein Tumor|Buschke-L&#246;wenstein Tumor|Condyloma Acuminatum, Giant|Condyloma Acuminatums, Giant|Giant Condyloma Acuminatum|Giant Condyloma Acuminatums|Giant Condyloma of Buschke and Lowenstein|Giant Condyloma of Buschke and L&#246;wenstein|Lowenstein Tumor, Buschke|L&#246;wenstein Tumor, Buschke|Tumor, Buschke Lowenstein|Tumor, Buschke-Lowenstein|Tumor, Buschke L&#246;wenstein|Tumor, Buschke-L&#246;wenstein
D062689||Lipoblastoma|Lipoblastomas|Lipoblastomatoses|Lipoblastomatosis
C536492|605472||Usher syndrome, type 2C|USH2C|USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED;USH2B, FORMERLY, INCLUDED|Usher Syndrome, Type IIC|USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED
C538159|236700||McKusick Kaufman syndrome|HMCS|Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|Hydrometrocolpos syndrome|Kaufman-Mckusick Syndrome|Kaufman McKusick syndrome|Mckusick-Kaufman Syndrome|MKKS
D012478||Salmonella Food Poisoning|Food Poisoning, Salmonella|Food Poisonings, Salmonella|Poisoning, Salmonella Food|Poisonings, Salmonella Food|Salmonella Food Poisonings
C535535|601631||Iridogoniodysgenesis type1|GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL, INCLUDED|IRID1|Iridogoniodysgenesis anomaly, Autosomal dominant|IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT;IGDA IRIS HYPOPLASIA WITH GLAUCOMA, INCLUDED|Iridogoniodysgenesis, Type 1
606035||FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1|FIQTL1
C564915|259700||Osteopetrosis, Autosomal Recessive 1|Albers-Schonberg Disease, Autosomal Recessive|Marble Bones, Autosomal Recessive|OPTB1|Osteopetrosis, Infantile Malignant 1
C567361|612288||Inflammatory Bowel Disease 20|IBD20
D011141||Polyuria|Polyurias
300331||THROMBOCYTHEMIA, X-LINKED|THCYTX|THROMBOCYTOSIS, X-LINKED
C567062||Fabry Disease, Cardiac Variant
C567061||Xeroderma Pigmentosum B/Cockayne Syndrome
D011146||Eczema, Dyshidrotic|Dyshidrotic Eczema|Dyshidrotic Eczemas|Dyshydrotic Eczema|Dyshydrotic Eczemas|Eczema, Dyshydrotic|Eczemas, Dyshidrotic|Eczemas, Dyshydrotic|Eczemas, Vesicular Palmoplantar|Eczema, Vesicular Palmoplantar|Palmoplantar Eczemas, Vesicular|Palmoplantar Eczema, Vesicular|Pompholyx|Vesicular Palmoplantar Eczema|Vesicular Palmoplantar Eczemas
C567751|613102||Hypotrichosis And Recurrent Skin Vesicles
117550|D058495||Sotos Syndrome|Cerebral Gigantism|Cerebral Gigantisms|CHROMOSOME 5q35 DELETION SYNDROME|Gigantism, Cerebral|Gigantisms, Cerebral|Sequence, Sotos|SOTOS1|Sotos Sequence|Soto&apos;s Syndrome|Sotos&apos; Syndrome|SOTOS SYNDROME|SOTOS SYNDROME 1|Soto Syndrome|Syndrome, Sotos|Syndrome, Sotos&apos;
C567027||Deafness, Autosomal Recessive, 24|DFNB24
D001791||Blood Platelet Disorders|Blood Platelet Disorder|Disorder, Blood Platelet|Disorders, Blood Platelet|Platelet Disorder, Blood|Platelet Disorders, Blood|Thrombocytopathies|Thrombocytopathy
D061387||Chlamydial Pneumonia|Chlamydial Pneumonias|Chlamydophila Pneumonia|Chlamydophila Pneumonias|Pneumonia, Chlamydial|Pneumonia, Chlamydophila|Pneumonias, Chlamydial|Pneumonias, Chlamydophila
D001796||Blood Protein Disorders|Blood Protein Disorder|Disorder, Blood Protein|Disorders, Blood Protein|Protein Disorder, Blood|Protein Disorders, Blood
D011115||Polyneuropathies|Acquired Polyneuropathies|Acquired Polyneuropathy|Critical Illness Polyneuropathies|Critical Illness Polyneuropathy|Familial Polyneuropathies|Familial Polyneuropathy|Inherited Polyneuropathies|Inherited Polyneuropathy|Motor Polyneuropathies|Motor Polyneuropathy|Polyneuropathies, Acquired|Polyneuropathies, Critical Illness|Polyneuropathies, Familial|Polyneuropathies, Inherited|Polyneuropathies, Motor|Polyneuropathy|Polyneuropathy, Acquired|Polyneuropathy, Critical Illness|Polyneuropathy, Familial|Polyneuropathy, Inherited|Polyneuropathy, Motor
C566471|610476||Arrhythmogenic Right Ventricular Dysplasia, Familial, 11|Arrhythmogenic Right Ventricular Cardiomyopathy 11|ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11;ARVC11 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, INCLUDED|ARVD11
D060048||Slipped Capital Femoral Epiphyses|Adolescent Coxa Vara|Adolescent Coxa Varas|Bilateral Slipped Capital Femoral Epiphyses|Bilateral Slipped Capital Femoral Epiphysis|Coxa Vara, Adolescent|Coxa Varas, Adolescent|Epiphysiolysis Capitis Femoris|Slipped Capital Femoral Epiphysis|Slipped Femoral Capital Epiphyses|Unilateral Slipped Capital Femoral Epiphyses|Unilateral Slipped Capital Femoral Epiphysis
D012448||Sadism|Sadisms|Sadism, Sexual|Sadisms, Sexual|Sexual Sadism|Sexual Sadisms
180200|D012175||Retinoblastoma|Eye Cancer, Retinoblastoma|Familial Retinoblastoma|Familial Retinoblastomas|Glioblastoma, Retinal|Glioblastomas, Retinal|Glioma, Retinal|Gliomas, Retinal|Hereditary Retinoblastoma|Hereditary Retinoblastomas|Neuroblastoma, Retinal|Neuroblastomas, Retinal|RB|RB1|Retinal Glioblastoma|Retinal Glioblastomas|Retinal Glioma|Retinal Gliomas|Retinal Neuroblastoma|Retinal Neuroblastomas|Retinoblastoma, Familial|Retinoblastoma, Hereditary|Retinoblastomas|Retinoblastomas, Familial|Retinoblastomas, Hereditary|Retinoblastoma, Sporadic|Retinoblastomas, Sporadic|Sporadic Retinoblastoma|Sporadic Retinoblastomas
C563909|608562||Polydactyly, Postaxial, Type A4|PAPA4|Postaxial Polydactyly, Type A4
608681||SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE|SCDO2
607354||SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2|IS2|SCOLIOSIS, ADOLESCENT IDIOPATHIC 2
138000|C536827||Glomus vagale tumors|Glomangiomas, Multiple|Glomus Tumors, Multiple|Glomuvenous malformations|GVM|Venous Malformations With Glomus Cells|VMGLOM
C567033||Glomerulonephritis With Isolated C3 Deposits And Factor I Deficiency
218330|C562966||Cranioectodermal Dysplasia|CED1|CRANIOECTODERMAL DYSPLASIA 1|Levin Syndrome I|Sensenbrenner Syndrome
D011111||Polymyalgia Rheumatica|Forestier Certonciny Syndrome|Forestier-Certonciny Syndrome|Peri-Extra-Articular Rheumatism|Pseudopolyarthritides, Rhizomelic|Pseudopolyarthritis, Rhizomelic|Rheumatism, Peri Extra Articular|Rheumatism, Peri-Extra-Articular|Rhizomelic Pseudopolyarthritides|Rhizomelic Pseudopolyarthritis|Syndrome, Forestier-Certonciny
608688||AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY|AICA-RIBOSURIA DUE TO ATIC DEFICIENCY|ATIC DEFICIENCY
611553|C548083||Noonan Syndrome 5|NS5
607317|C537310||Spinocerebellar ataxia, autosomal recessive 4|SCA24, FORMERLY|SCAR4|SCASI|SPINOCEREBELLAR ATAXIA 24, FORMERLY|Spinocerebellar ataxia with saccadic intrusions
300306||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11|BMIQ11|OBESITY, SUSCEPTIBILITY TO
C538511||Cancer of the oviduct
C567039||Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
D000472||Alkalosis, Respiratory|Alkaloses, Respiratory|Respiratory Alkaloses|Respiratory Alkalosis
D000471||Alkalosis|Alkaloses
608673||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L|CMT2L
D013789||Thalassemia|Thalassemias
C580009||Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia|Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia|Deafness with Lamm|Lamm Syndrome
D011128||Polyradiculopathy|Abdominal Polyradiculopathies|Abdominal Polyradiculopathy|Cauda Equina Syndrome|Cauda Equina Syndromes|Polyradiculitides|Polyradiculitis|Polyradiculopathies|Polyradiculopathies, Abdominal|Polyradiculopathy, Abdominal|Syndrome, Cauda Equina|Syndromes, Cauda Equina
D011127||Polyps|Polyp
D011129||Polyradiculoneuropathy|Autoimmune Demyelinating Disease, Peripheral|Demyelinating Autoimmune Disease, Peripheral|Demyelinating Disease, Peripheral Autoimmune|Peripheral Autoimmune Demyelinating Disease|Polyradiculoneuritides|Polyradiculoneuritis|Polyradiculoneuropathies
C580002||Combined Malonic and Methylmalonic Aciduria|Cmamma
C580003||Combined Pituitary Hormone Deficiency|Panhypopituitarism
C538505||Cytomegalic inclusion body disease
D060051||Occupational Injuries|Injuries, Occupational|Injury, Occupational|Occupational Injury
D060050||Angina, Stable|Angina, Chronic Stable|Angina Pectoris, Stable|Angina Pectori, Stable|Anginas, Chronic Stable|Anginas, Stable|Chronic Stable Angina|Chronic Stable Anginas|Pectoris, Stable Angina|Pectori, Stable Angina|Stable Angina|Stable Angina, Chronic|Stable Angina Pectori|Stable Angina Pectoris|Stable Anginas|Stable Anginas, Chronic
C537221|600145||Sacral defect and anterior sacral meningocele|Agenesis of sacrum|Caudal Dysgenesis Syndrome|CAUDAL REGRESSION SYNDROME, INCLUDED|Hypoplasia of sacrum|Lumbosacral agenesis|Sacral agenesis|SACRAL AGENESIS, INCLUDED|Sacral defect anterior meningocele|Sacral Defect with Anterior Meningocele|SDAM CAUDAL DYSGENESIS SYNDROME, INCLUDED|SIRENOMELIA, INCLUDED
D013786||Thalamic Diseases|Dejerine Roussy Syndrome|Dejerine-Roussy Syndrome|Diseases, Thalamic|Disease, Thalamic|Syndrome, Dejerine-Roussy|Syndromes, Thalamic|Syndrome, Thalamic|Thalamic Disease|Thalamic Syndrome|Thalamic Syndromes
C538507||Dandy Walker cyst
C567042||Osteogenesis Imperfecta, Type V|OI5|OI, Type V
D011123||Polyploidy|Cell, Polyploid|Cells, Polyploid|Polyploid|Polyploid Cell|Polyploid Cells|Polyploidies|Polyploids
C543092||Lubinsky syndrome|Cataracts and testicular failure|Hypogonadism-Cataract Syndrome
C567041||Osteogenesis Imperfecta, Type VI|OI6|OI, Type VI
D001778||Blood Coagulation Disorders|Blood Coagulation Disorder|Coagulation Disorder, Blood|Coagulation Disorders, Blood|Disorder, Blood Coagulation|Disorders, Blood Coagulation
C567004||Meckel-Like Cerebrorenodigital Syndrome
D056806||Urea Cycle Disorders, Inborn|Disorders, Urea Cycle|Disorder, Urea Cycle|Inborn Urea Cycle Disorder|Urea Cycle Disorder|Urea Cycle Disorders
C563451|606392||Maturity-Onset Diabetes of the Young, Type 4|MODY4|MODY, Type 4
C567813|613021||Bronchiectasis With Or Without Elevated Sweat Chloride 2|BESC2|CYSTIC FIBROSIS-LIKE SYNDROME
208250|C537560||Jacobs syndrome|Arthropathy camptodactyly syndrome|Arthropathy-Camptodactyly Syndrome|CACP|Camptodactyly-arthropathy-coxa vara-pericarditis syndrome|Camptodactyly arthropathy pericarditis syndrome|Camptodactyly-Arthropathy-Pericarditis Syndrome|CAP SYNDROME|Congenital familial hypertrophic synovitis|Fibrosing serositis, familial|Hypertrophic Synovitis, Congenital Familial|JACOBS SYNDROME|PAC SYNDROME|Pericarditis arthropathy camptodactyly syndrome|Pericarditis-Arthropathy-Camptodactyly Syndrome
607812|C564332||Craniolenticulosutural Dysplasia|Boyadjiev-Jabs Syndrome|CLSD
613216||NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C|CSNB1C|CSNB, COMPLETE, AUTOSOMAL RECESSIVE
D003093|191390||Colitis, Ulcerative|Colitis Gravis|IBD11|Idiopathic Proctocolitis|INFLAMMATORY BOWEL DISEASE 11|Inflammatory Bowel Disease, Ulcerative Colitis Type|Ulcerative Colitis
613207||ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8|ASRT8|RHINOCONJUNCTIVITIS, SUSCEPTIBILITY TO, INCLUDED
C565102|612908||Keratosis Palmoplantaris Striata II|Keratoderma, Palmoplantar, Striate Form II|KPPS2|PPKS2|SPPK2|Striate Palmoplantar Keratoderma II
C557675||Congenital tracheomalacia|Tracheomalacia, congenital|Type 1 tracheomalacia
607086|C562834||Aortic Aneurysm, Familial Thoracic 1|AAT1|ANEURYSM, THORACIC AORTIC ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED|Annuloaortic Ectasia|Aortic Aneurysm, Familial Thoracic|Aortic Dissection, Familial|FAA1|Familial Aortic Aneurysm|Familial Aortic Dissection|Familial Taad|Familial Thoracic Aortic Aneurysm|Familial Thoracic Aortic Aneurysm and Dissection
D012421||Rupture|Ruptures
C563717|609454||Supranuclear Palsy, Progressive, 2|PSNP2
D012422||Rupture, Spontaneous|Ruptures, Spontaneous|Spontaneous Rupture|Spontaneous Ruptures
C563541|160700||Myopia 2|MYOPIA 2, AUTOSOMAL DOMINANT|MYP2
150250|C537873||Larsen syndrome, dominant type|LARSEN SYNDROME|Larsen Syndrome, Autosomal Dominant|LRS
D001787||Blood Group Incompatibility|Blood Group Incompatibilities|Group Incompatibilities, Blood|Group Incompatibility, Blood|Incompatibilities, Blood Group|Incompatibility, Blood Group|Reactions, Transfusion|Reaction, Transfusion|Transfusion Reaction|Transfusion Reactions
D000453||Aleutian Mink Disease|Aleutian Disease of Mink|Disease, Aleutian Mink|Mink Disease, Aleutian
C565833|603909||Autoimmune Lymphoproliferative Syndrome, Type IIA|ALPS2A
148500|C536164||Keratosis palmoplantaris with esophageal cancer|Howell Evans syndrome|Keratosis Palmaris Et Plantaris With Esophageal Cancer|TOC|Tylosis with esophageal cancer
C567024||Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
D000425||Alcohol Amnestic Disorder|Alcohol Amnestic Disorders|Alcohol Amnestic Syndrome|Alcohol Amnestic Syndromes|Alcoholic Korsakoff Syndrome|Alcoholic Korsakoff Syndromes|Alcohol-Induced Amnestic Psychoses|Alcohol Induced Amnestic Psychosis|Alcohol-Induced Amnestic Psychosis|Alcohol Induced Amnestic Syndrome|Alcohol-Induced Amnestic Syndrome|Alcohol-Induced Amnestic Syndromes|Alcohol-Induced Dysmnesic Psychoses|Alcohol Induced Dysmnesic Psychosis|Alcohol-Induced Dysmnesic Psychosis|Alcohol Induced Dysmnesic Syndrome|Alcohol-Induced Dysmnesic Syndrome|Alcohol-Induced Dysmnesic Syndromes|Alcohol Induced Korsakoff Syndrome|Alcohol-Induced Korsakoff Syndrome|Alcohol-Induced Korsakoff Syndromes|Alcohol Induced Persisting Amnestic Disorder|Alcohol-Induced Persisting Amnestic Disorder|Amnestic Disorder, Alcohol|Amnestic Disorders, Alcohol|Amnestic Psychoses, Alcohol-Induced|Amnestic Psychosis, Alcohol Induced|Amnestic Psychosis, Alcohol-Induced|Amnestic Syndrome, Alcohol|Amnestic Syndrome, Alcohol-Induced|Amnestic Syndromes, Alcohol|Amnestic Syndromes, Alcohol-Induced|Dysmnesic Psychoses, Alcohol-Induced|Dysmnesic Psychosis, Alcohol-Induced|Dysmnesic Syndrome, Alcohol-Induced|Dysmnesic Syndromes, Alcohol-Induced|Korsakoff Syndrome, Alcoholic|Korsakoff Syndrome, Alcohol-Induced|Korsakoff Syndromes, Alcoholic|Korsakoff Syndromes, Alcohol-Induced|Psychoses, Alcohol-Induced Amnestic|Psychoses, Alcohol-Induced Dysmnesic|Psychosis, Alcohol-Induced Amnestic|Psychosis, Alcohol-Induced Dysmnesic|Syndrome, Alcohol Amnestic|Syndrome, Alcoholic Korsakoff|Syndrome, Alcohol-Induced Amnestic|Syndrome, Alcohol-Induced Dysmnesic|Syndrome, Alcohol-Induced Korsakoff|Syndromes, Alcohol Amnestic|Syndromes, Alcoholic Korsakoff|Syndromes, Alcohol-Induced Amnestic|Syndromes, Alcohol-Induced Dysmnesic|Syndromes, Alcohol-Induced Korsakoff
D001753||Blast Injuries|Blast Injury|Injuries, Blast|Injury, Blast
D001759||Blastomycosis|Blastomycoses|Blastomycosis, North American|Gilchrist Disease|Gilchrist&apos;s Disease|Gilchrists Disease|North American Blastomycosis
194380|C566369||Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema|DEHYDRATED HEREDITARY STOMATOCYTOSIS|DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA|DESICCYTOSIS, HEREDITARY|DHS|PSEUDOHYPERKALEMIA EDINBURGH|PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK|PSHK1|XEROCYTOSIS, HEREDITARY
D056829||Hereditary Angioedema Types I and II|Angioedema, Hereditary, Type I|Angioedema, Hereditary, Type II|Angioedema, Hereditary, Types I and II|C1 Esterase Inhibitor, Deficiency Of|Deficiency of C1 Esterase Inhibitor|Hereditary Angioedema Type 1|Hereditary Angioedema Type I|Hereditary Angioedema Type II
604403|C565810||Generalized Epilepsy With Febrile Seizures Plus, Type 2|FEB3A, INCLUDED|GEFSP2|GEFS, Type 2|GEFS+, TYPE 2;GEFS+2 FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED
C563273|145001||Hyperparathyroidism 2|HRPT2|Hyperparathyroidism, Familial Primary, with Multiple Ossifying Jaw Fibromas|Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary|HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY;HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC, INCLUDED
C565328|605432||Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia|CTRUS|RUSAT|THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
D012409||Rubella|German Measles|Measles, German|Measles, Three Day|Measle, Three Day|Rubellas|Three Day Measle|Three Day Measles
D001752||Blast Crisis|Blast Crises|Blast Phase|Blast Phases|Crises, Blast|Crisis, Blast|Phase, Blast|Phases, Blast
D001750||Urinary Bladder, Neurogenic|Atonic Neurogenic Bladder|Bladder Disorder, Neurogenic|Bladder Neurogenesis|Bladder, Neurogenic|Neurogenesis, Bladder|Neurogenesis, Urinary Bladder|Neurogenic Bladder|Neurogenic Bladder, Atonic|Neurogenic Bladder Disorder|Neurogenic Bladder Disorders|Neurogenic Bladder, Spastic|Neurogenic Bladder, Uninhibited|Neurogenic Dysfunction of the Urinary Bladder|Neurogenic Urinary Bladder|Neurogenic Urinary Bladder, Atonic|Neurogenic Urinary Bladder Disorder|Neurogenic Urinary Bladder, Spastic|Neurogenic Urinary Bladder, Uninhibited|Neuropathic Bladder|Spastic Neurogenic Bladder|Uninhibited Neurogenic Bladder|Urinary Bladder Disorder, Neurogenic|Urinary Bladder Neurogenesis|Urinary Bladder Neurogenic Dysfunction
D013733||Testicular Diseases|Diseases, Testicular|Disease, Testicular|Testicular Disease
D013736||Testicular Neoplasms|Cancer of Testis|Cancer of the Testes|Cancer of the Testis|Cancers, Testicular|Cancers, Testis|Cancer, Testicular|Cancer, Testis|Neoplasms, Testicular|Neoplasms, Testis|Neoplasm, Testicular|Neoplasm, Testis|Rete Testis Tumor|Rete Testis Tumors|Testicular Cancer|Testicular Cancers|Testicular Neoplasm|Testicular Tumors|Testis Cancer|Testis Cancers|Testis Neoplasm|Testis Neoplasms|Testis Tumor, Rete|Testis Tumors, Rete|Tumor of Rete Testis
D060085||Coinfection|Co infection|Co-infection|Coinfections|Co-infections|Infection, Mixed|Infection, Polymicrobial|Infection, Secondary|Infections, Mixed|Infections, Polymicrobial|Infections, Secondary|Mixed Infection|Mixed Infections|Polymicrobial Infection|Polymicrobial Infections|Secondary Infection|Secondary Infections
D056824||Upper Extremity Deep Vein Thrombosis|Central Venous Catheter Thrombosis|Effort Induced Upper Extremity Deep Vein Thrombosis|Effort-Induced Upper Extremity Deep Vein Thrombosis|Effort Related Upper Extremity Deep Vein Thrombosis|Effort-Related Upper Extremity Deep Vein Thrombosis|Exercise Induced Upper Extremity Deep Vein Thrombosis|Exercise-Induced Upper Extremity Deep Vein Thrombosis|Idiopathic Upper Extremity Deep Vein Thrombosis|Paget Schroetter Syndrome|Paget-Schroetter Syndrome|Syndrome, Paget-Schroetter|Upper Extremity Deep Vein Thrombosis, Primary|Upper Extremity Deep Vein Thrombosis, Secondary
D012400||Rotavirus Infections|Infection, Rotavirus|Infections, Rotavirus|Rotavirus Infection
D056685|218040||Costello Syndrome|CMEMS, INCLUDED|Faciocutaneoskeletal Syndrome|Faciocutaneoskeletal Syndromes|FCS Syndrome|FCS SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED|FCS Syndromes|Syndrome, Costello|Syndrome, Faciocutaneoskeletal|Syndrome, FCS|Syndromes, Faciocutaneoskeletal|Syndromes, FCS
D001766||Blindness|Acquired Blindness|Amauroses|Amaurosis|Blindness, Acquired|Blindness, Complete|Blindness, Hysterical|Blindness, Legal|Blindness, Monocular|Blindness, Transient|Complete Blindness|Hysterical Blindness|Legal Blindness|Monocular Blindness|Transient Blindness
D000435||Alcoholic Intoxication|Drunkenness|Drunkennesses|Intoxication, Alcoholic
D001765||Blind Loop Syndrome|Bacterial Overgrowth Syndrome|Loop Syndromes, Stagnant|Loop Syndrome, Stagnant|Stagnant Loop Syndrome|Stagnant Loop Syndromes|Syndrome, Bacterial Overgrowth|Syndrome, Blind Loop|Syndromes, Stagnant Loop|Syndrome, Stagnant Loop
D001764||Blepharospasm|Blepharospasms
D001768||Blister|Bleb|Blebs|Blisters|Bulla|Bullae|Bullous Lesion|Bullous Lesions|Lesion, Bullous|Lesions, Bullous|Vesication|Vesications
194070|D009396||Wilms Tumor|Bilateral Wilms Tumor|Nephroblastoma|Nephroblastomas|Tumor, Bilateral Wilms|Tumor, Wilms|Tumor, Wilms&apos;|Wilm&apos;s Tumor|Wilms&apos; Tumor|Wilms Tumor 1|Wilms Tumor, Bilateral|Wilm Tumor|WT1
D001763||Blepharoptosis|Blepharoptoses|Eyelid Ptoses|Eyelid Ptosis|Ptoses, Eyelid|Ptosis, Eyelid
D001762||Blepharitis|Blepharitides
D000430||Alcohol Withdrawal Delirium|Alcohol Withdrawal Associated Autonomic Hyperactivity|Alcohol Withdrawal Hallucinosis|Alcohol Withdrawal Induced Delirium Tremens|Alcohol Withdrawal-Induced Delirium Tremens|Autonomic Hyperactivity, Alcohol Withdrawal Associated|Delirium, Alcohol Withdrawal|Delirium Tremens|Delirium Tremens, Alcohol Withdrawal Induced|Hallucinosis, Alcohol Withdrawal
D013746||Tetany|Neonatal Tetanies|Neonatal Tetany|Spasmophilia|Spasmophilias|Tetanies|Tetanies, Neonatal|Tetanilla|Tetanillas|Tetany, Neonatal
C536546|602134||Tremor hereditary essential, 2|ETM2|Tremor, Hereditary Essential, 2
203800|D056769||Alstrom Syndrome|ALMS|ALSS|Alstrom Hallgren Syndrome|Alstrom-Hallgren Syndrome|Alstrom&apos;s Syndrome|Alstroms Syndrome|Alstr&#246;m Syndrome|Syndrome, Alstrom|Syndrome, Alstr&#246;m|Syndrome, Alstrom-Hallgren|Syndrome, Alstrom&apos;s
C567002||Epilepsy, Childhood Absence, Susceptibility To, 4
D056830||Isolated Noncompaction of the Ventricular Myocardium|Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked|Isolated Non-compaction of the Ventricular Myocardium|Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant
D012410||Rubella Syndrome, Congenital|Congenital Rubella Syndrome|Congenital Rubella Syndromes|Rubella Syndromes, Congenital|Syndrome, Congenital Rubella|Syndromes, Congenital Rubella
D013742||Tetanus
C536271|608649||Ichthyosis prematurity syndrome|Aniridia partial with unilateral renal agenesis and psychomotor retardation|Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation|Aniridia renal agenesis psychomotor retardation|Ichthyosis congenita IV|IPS
D055501||Macrophage Activation Syndrome|Syndrome, Macrophage Activation
D056833||Central Serous Chorioretinopathy|Central Serous Chorioretinopathies|Central Serous Retinopathies|Central Serous Retinopathy|Chorioretinopathies, Central Serous|Chorioretinopathy, Central Serous|Retinopathies, Central Serous|Retinopathy, Central Serous|Serous Chorioretinopathies, Central|Serous Chorioretinopathy, Central|Serous Retinopathies, Central|Serous Retinopathy, Central
D001734||Bites, Human|Bite, Human|Human Bite|Human Bites
C569627||Cold Hypersensitivity
D001733||Bites and Stings|Bite|Bites|Sting|Stings|Stings and Bites
D000402||Airway Obstruction|Airway Obstructions|Choking|Obstruction, Airway|Obstructions, Airway
143100|D006816||Huntington Disease|Akinetic Rigid Variant of Huntington Disease|Akinetic-Rigid Variant of Huntington Disease|Chorea, Chronic Progressive Hereditary (Huntington)|Chorea, Huntington|Chorea, Huntington&apos;s|Chronic Progressive Hereditary Chorea (Huntington)|HD|Huntington Chorea|Huntington Chronic Progressive Hereditary Chorea|Huntington Disease, Akinetic Rigid Variant|Huntington Disease, Akinetic-Rigid Variant|Huntington Disease, Juvenile|Huntington Disease, Juvenile Onset|Huntington Disease, Juvenile-Onset|Huntington Disease, Late Onset|Huntington Disease, Late-Onset|Huntington&apos;s Chorea|Huntington&apos;s Disease|Juvenile Huntington Disease|Juvenile Onset Huntington Disease|Juvenile-Onset Huntington Disease|Late Onset Huntington Disease|Late-Onset Huntington Disease|Progressive Chorea, Chronic Hereditary (Huntington)|Progressive Chorea, Hereditary, Chronic (Huntington)
D008881|157300||Migraine Disorders|Abdominal Migraine|Abdominal Migraines|Acute Confusional Migraine|Acute Confusional Migraines|Cervical Migraine Syndrome|Cervical Migraine Syndromes|Disorder, Migraine|Disorders, Migraine|FHM4, INCLUDED|Headache, Migraine|Headache, Sick|Headaches, Migraine|Headaches, Sick|Hemicrania Migraine|Hemicrania Migraines|MA|MGAU|MGR1|MGR12|MGR13|MGR3|MGR5|MGR6 MIGRAINE, FAMILIAL HEMIPLEGIC, 4, INCLUDED|MGR8|Migraine|Migraine, Abdominal|Migraine, Acute Confusional|Migraine Disorder|Migraine Headache|Migraine Headaches|Migraine, Hemicrania|Migraines|Migraines, Abdominal|Migraines, Acute Confusional|Migraines, Hemicrania|Migraine Syndrome, Cervical|Migraine Syndromes, Cervical|Migraine Variant|Migraine Variants|MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1|MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12|MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13|MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3|MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5|MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6|MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8|Sick Headache|Sick Headaches|Status Migrainosus|Variant, Migraine|Variants, Migraine
C563668|610422||Alopecia-Mental Retardation Syndrome 2|APMR2
C566599|601954||Muscular Dystrophy, Limb-Girdle, Type 2G|LGMD2G
D000405||Akinetic Mutism|Akinetic Autism|Akinetic Mutisms|Autism, Akinetic|Coma Vigil|Coma Vigilans|Mutism, Akinetic|Vigil, Coma|Vigils, Coma
C564539|300299||Neutropenia, Severe Congenital, X-Linked|SCNX|XLN
122200|C537881||Lattice corneal dystrophy type 1|Biber-Haab-Dimmer Dystrophy|CDL1|Corneal dystrophy, lattice type 1|Corneal Dystrophy, Lattice Type I|Lattice Corneal Dystrophy Type I|Lattice Corneal Dystrophy, Type I|LCD|LCD1
244460|C537021||Kenny-Caffey syndrome, Type 1|KCS|KCS1|Kenny-Caffey Syndrome, Autosomal Recessive|Kenny-Caffey syndrome, autosomal recessive form
D013716||Tennis Elbow|Elbows, Tennis|Elbow, Tennis|Epicondylitides, Lateral Humeral|Epicondylitis, Lateral Humeral|Humeral Epicondylitides, Lateral|Humeral Epicondylitis, Lateral|Lateral Humeral Epicondylitides|Lateral Humeral Epicondylitis|Tennis Elbows
D013717||Tenosynovitis|Tenosynovitides
D010673|171300||Pheochromocytoma|Extra-Adrenal Pheochromocytoma|Extra-Adrenal Pheochromocytomas|Pheochromocytoma, Extra Adrenal|Pheochromocytoma, Extra-Adrenal|PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO|Pheochromocytomas|Pheochromocytomas, Extra-Adrenal
603855||CYSTIC FIBROSIS, MODIFIER OF, 1|CFM1|MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO, INCLUDED
D056844||Renal Colic|Acute Renal Colic|Acute Renal Colics|Colic, Acute Renal|Colic, Renal|Colics, Acute Renal|Colics, Renal|Colics, Ureteral|Colic, Ureteral|Renal Colic, Acute|Renal Colics|Renal Colics, Acute|Ureteral Colic|Ureteral Colics
D001745||Urinary Bladder Diseases|Bladder Disease|Bladder Diseases|Urinary Bladder Disease
D001744||Urinary Bladder Calculi|Bladder Calculi|Bladder Calculi, Urinary|Bladder Calculus|Bladder Calculus, Urinary|Bladder Stone|Bladder Stones|Bladder Stones, Urinary|Bladder Stone, Urinary|Calculi, Bladder|Calculi of Urinary Bladder|Calculi, Urinary Bladder|Calculi, Vesical|Calculus, Bladder|Calculus, Urinary Bladder|Calculus, Vesical|Cystolith|Cystoliths|Stone, Bladder|Stones, Bladder|Stones, Urinary Bladder|Stone, Urinary Bladder|Urinary Bladder Calculus|Urinary Bladder Stone|Urinary Bladder Stones|Vesical Calculi|Vesical Calculus
D001742||Blackwater Fever|Black Water Fever|Blackwater Fevers|Black Water Fevers|Fever, Blackwater|Fever, Black Water|Fevers, Blackwater|Fevers, Black Water|Hemolytic Malaria|Hemolytic Malarias|Malaria, Hemolytic|Malarias, Hemolytic
D001748||Urinary Bladder Neck Obstruction|Bladder Neck Obstruction|Bladder Outlet Obstruction
D000417||Albinism
D001747||Urinary Bladder Fistula|Fistulas, Urinary Bladder|Fistulas, Vesical|Fistula, Urinary Bladder|Fistula, Vesical|Urinary Bladder Fistulas|Vesical Fistula|Vesical Fistulas
157700||MITRAL VALVE PROLAPSE, FAMILIAL|BARLOW SYNDROME|CLICK-MURMUR SYNDROME MITRAL VALVE PROLAPSE, MYXOMATOUS 1, INCLUDED|FLOPPY MITRAL VALVE|MITRAL REGURGITATION, FAMILIAL|MMVP1, INCLUDED|MVP|MYXOMATOUS MITRAL VALVE PROLAPSE 1, INCLUDED|MYXOMATOUS VALVULAR DISEASE, FAMILIAL|PMV|PROLAPSED MITRAL VALVE
D001746||Bladder Exstrophy|Bladder Exstrophies|Bladder Extrophies|Bladder Extrophy|Exstrophies, Bladder|Exstrophies, Urinary Bladder|Exstrophy, Bladder|Exstrophy Of Bladder|Exstrophy of the Bladder|Exstrophy, Urinary Bladder|Extrophies, Bladder|Extrophy, Bladder|Urinary Bladder Exstrophies|Urinary Bladder Exstrophy
D013724||Teratoma|Benign Teratoma|Benign Teratomas|Dysembryoma|Dysembryomas|Immature Teratoma|Immature Teratomas|Malignant Teratoma|Malignant Teratomas|Teratoid Tumor|Teratoid Tumors|Teratoma, Benign|Teratoma, Cystic|Teratoma, Immature|Teratoma, Malignant|Teratoma, Mature|Teratomas|Teratomas, Benign|Teratomas, Immature|Teratomas, Malignant|Tumors, Teratoid|Tumor, Teratoid
C565275|605913||Bleeding Disorder, East Texas Type|BDET
607095|C538256||Anauxetic dysplasia|Spondylometaepiphyseal dysplasia, Anauxetic type|Spondylometaepiphyseal dysplasia, Menger type
C567216|612642||Deafness, Autosomal Dominant 59|DFNA59
C565406|249500||Mental Retardation, Autosomal Recessive 1|MRT1
102600||ADENINE PHOSPHORIBOSYLTRANSFERASE|APRT
D000419||Albuminuria|Albuminurias
C567506|611879||Cardiomyopathy, Dilated, 1z|CMD1Z
C562695|609304||Epileptic Encephalopathy, Early Infantile, 3|Early Myoclonic Encephalopathy|EIEE3|Myoclonic Epilepsy, Neonatal, With Suppression-Burst Pattern
D044882||Glucose Metabolism Disorders|Disorder, Glucose Metabolic|Disorder, Glucose Metabolism|Disorders, Glucose Metabolic|Disorders, Glucose Metabolism|Glucose Metabolic Disorder|Glucose Metabolic Disorders|Glucose Metabolism Disorder|Metabolic Disorder, Glucose|Metabolic Disorders, Glucose|Metabolism Disorder, Glucose|Metabolism Disorders, Glucose
D001716||Bird Fancier&apos;s Lung|Avian Hypersensitivity Pneumonitides|Avian Hypersensitivity Pneumonitis|Bird Fancier Lung|Bird Fanciers Lung|Bird Fancier&apos;s Lungs|Budgerigar Fancier Lung|Budgerigar Fancier&apos;s Lung|Budgerigar Fanciers Lung|Budgerigar Fancier&apos;s Lungs|Hypersensitivity Pneumonitides, Avian|Hypersensitivity Pneumonitis, Avian|Lung, Bird Fancier&apos;s|Lung, Budgerigar Fancier&apos;s|Lung, Pigeon Breeder&apos;s|Lungs, Bird Fancier&apos;s|Lungs, Budgerigar Fancier&apos;s|Lungs, Pigeon Breeder&apos;s|Pigeon Breeder Lung|Pigeon Breeder&apos;s Lung|Pigeon Breeders Lung|Pigeon Breeder&apos;s Lungs|Pneumonitides, Avian Hypersensitivity|Pneumonitis, Avian Hypersensitivity|Pneumonitis, Hypersensitivity, Avian
D001715||Bird Diseases|Avian Disease|Avian Diseases|Bird Disease|Disease, Avian|Disease, Bird|Diseases, Avian|Diseases, Bird
D001714||Bipolar Disorder|Affective Psychosis, Bipolar|Bipolar Affective Psychosis|Bipolar Depression|Bipolar Disorders|Depression, Bipolar|Disorder, Bipolar|Disorder, Manic|Mania|Manias|Manic-Depressive Psychoses|Manic Depressive Psychosis|Manic-Depressive Psychosis|Manic Disorder|Manic Disorders|Manic State|Manic States|Psychoses, Bipolar Affective|Psychoses, Manic Depressive|Psychoses, Manic-Depressive|Psychosis, Bipolar Affective|Psychosis, Manic Depressive|Psychosis, Manic-Depressive|State, Manic|States, Manic
207750|D008072||Hyperlipoproteinemia Type I|Anapolipoproteinemia, C-II|Anapolipoproteinemias, C-II|APOC2 DEFICIENCY|Apolipoprotein C-II Deficiencies|Apolipoprotein C II Deficiency|Apolipoprotein C-II Deficiency|Burger Grutz Syndrome|Burger-Grutz Syndrome|Burger-Grutz Syndromes|Chylomicronemia, Familial|Chylomicronemias, Familial|C-II Anapolipoproteinemia|C-II Anapolipoproteinemias|Deficiencies, Apolipoprotein C-II|Deficiencies, Familial LPL|Deficiencies, Lipase D|Deficiencies, LIPD|Deficiencies, Lipoprotein Lipase|Deficiency, Apolipoprotein C-II|Deficiency, Familial LPL|Deficiency, Lipase D|Deficiency, LIPD|Deficiency, Lipoprotein Lipase|Essential Familial Hyperlipemia|Essential Familial Hyperlipemias|Familial Chylomicronemia|Familial Chylomicronemias|Familial Fat Induced Hypertriglyceridemia|Familial Fat-Induced Hypertriglyceridemia|Familial Fat-Induced Hypertriglyceridemias|Familial Hyperchylomicronemia|Familial Hyperchylomicronemias|Familial Hyperlipemia, Essential|Familial Hyperlipemias, Essential|Familial Hyperlipoproteinemia Type 1|Familial Lipoprotein Lipase Deficiency|Familial LPL Deficiencies|Familial LPL Deficiency|Fat-Induced Hypertriglyceridemia, Familial|Fat-Induced Hypertriglyceridemias, Familial|Hyperchylomicronemia, Familial|Hyperchylomicronemias, Familial|Hyperlipemia, Essential Familial|Hyperlipemia, Idiopathic, Burger-Grutz Type|Hyperlipemias, Essential Familial|Hyperlipoproteinemias, Type I|Hyperlipoproteinemias, Type Ia|Hyperlipoproteinemias, Type Ib|Hyperlipoproteinemia, Type I|Hyperlipoproteinemia Type Ia|Hyperlipoproteinemia, Type Ia|Hyperlipoproteinemia Type Ias|Hyperlipoproteinemia Type Ib|Hyperlipoproteinemia, Type Ib|Hyperlipoproteinemia Type Ibs|Hyperlipoproteinemia Type Is|Hypertriglyceridemia, Familial Fat-Induced|Hypertriglyceridemias, Familial Fat-Induced|Lipase D Deficiencies|Lipase D Deficiency|Lipase Deficiencies, Lipoprotein|LIPD Deficiencies|LIPD Deficiency|Lipoprotein Lipase Deficiencies|Lipoprotein Lipase Deficiency|Lipoprotein Lipase Deficiency, Familial|LPL Deficiencies, Familial|LPL DEFICIENCY|LPL Deficiency, Familial|Syndrome, Burger-Grutz|Syndromes, Burger-Grutz|Type Ia Hyperlipoproteinemia|Type Ia Hyperlipoproteinemias|Type Ib Hyperlipoproteinemia|Type Ib Hyperlipoproteinemias|Type I Hyperlipoproteinemia|Type I Hyperlipoproteinemias
137600|C535536||Iridogoniodysgenesis, dominant type|IGDS|IHGA|IRID2|Iridogoniodysgenesis syndrome|Iridogoniodysgenesis type 2|Iridogoniodysgenesis, Type 2|Iris hypoplasia with early onset glaucoma, autosomal dominant|Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant
C567447|611959||Prostate Cancer, Hereditary, 15|HPC15
C567115|233650||Combined Cellular And Humoral Immune Defects With Granulomas|CCHIDG
120430|C535970||Coloboma of optic nerve|Congenital coloboma of the optic nerve|MORNING GLORY DISC, INCLUDED|Optic nerve coloboma|Optic nerve head pits, bilateral congenital|OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED
D015518|312750||Rett Syndrome|Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use|AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED|Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome|Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome|Cerebroatrophic Hyperammonemia|Cerebroatrophic Hyperammonemias|Hyperammonemia, Cerebroatrophic|Hyperammonemias, Cerebroatrophic|Rett Disorder|Rett&apos;s Disorder|Rett&apos;s Syndrome|Retts Syndrome|RETT SYNDROME, ATYPICAL, INCLUDED|RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED|RTS|RTT|Syndrome, Rett|Syndrome, Rett&apos;s
C544351||Idiopathic orthostatic hypotension
D055538||delta-Thalassemia|delta Thalassemia|delta-Thalassemias
D055534||Bulbo-Spinal Atrophy, X-Linked|Atrophies, X-Linked Bulbo-Spinal|Atrophy, X-Linked Bulbo-Spinal|Bulbo-Spinal Atrophies, X-Linked|Bulbo Spinal Atrophy, X Linked|Bulbospinal Muscular Atrophy, X linked|Bulbospinal Muscular Atrophy, X-linked|Disease, Kennedy|Disease, Kennedy&apos;s|Kennedy Disease|Kennedy&apos;s Disease|Kennedys Disease|Kennedy Spinal and Bulbar Muscular Atrophy|Kennedy Syndrome|Spinal And Bulbar Muscular Atrophy, X Linked 1|Spinal And Bulbar Muscular Atrophy, X-Linked 1|Syndrome, Kennedy|X-Linked Bulbo-Spinal Atrophies|X Linked Bulbo Spinal Atrophy|X-Linked Bulbo-Spinal Atrophy|X linked Bulbospinal Muscular Atrophy|X-linked Bulbospinal Muscular Atrophy|X Linked Spinal and Bulbar Muscular Atrophy|X-Linked Spinal and Bulbar Muscular Atrophy
D055535||Morgellons Disease|Disease, Morgellons|Morgellon|Morgellons|Morgellon&apos;s|Morgellons Syndrome|Syndrome, Morgellons
C567764|613087||Atrial Septal Defect 6|ASD6
C567887|154230||46,XY Sex Reversal 4|46,Xy Gonadal Dysgenesis, Complete Or Partial, With 9p24.3 Deletion|Chromosome 9p24.3 Deletion Syndrome|SRXY4
D001720||Birth Injuries|Birth Injury|Injuries, Birth|Injury, Birth
C537352|156500||Metaphyseal chondrodysplasia Schmid type|MCDS|Metaphyseal Chondrodysplasia, Schmid Type|Spondylometaphyseal Dysplasia, Japanese Type
260660||COUSIN SYNDROME|CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE|PELVISCAPULAR DYSPLASIA
D001724||Birth Weight|Birth Weights|Weight, Birth|Weights, Birth
C563678|610356||Retinal Cone Dystrophy 3B|CDSRR|Cone Dystrophy with Night Blindness and Supernormal Rod Responses, KCNV2-Related|CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES|RCD3B
D013708||Tendon Injuries|Injuries, Tendon|Injury, Tendon|Tendon Injury
D013700||Giant Cell Arteritis|Aortic Arteritis, Giant Cell|Aortitides, Giant Cell|Aortitis, Giant Cell|Arteritides, Cranial|Arteritides, Giant Cell|Arteritides, Juvenile Temporal|Arteritides, Temporal|Arteritis, Cranial|Arteritis, Giant Cell|Arteritis, Giant Cell, Horton|Arteritis, Giant Cell, Horton&apos;s|Arteritis, Juvenile Temporal|Arteritis, Temporal|Cranial Arteritides|Cranial Arteritis|Giant Cell Aortic Arteritis|Giant Cell Aortitides|Giant Cell Aortitis|Giant Cell Aortitis, Horton&apos;s|Giant Cell Arteritides|Giant Cell Arteritis, Horton|Horton Disease|Horton Giant Cell Arteritis|Horton&apos;s Disease|Hortons Disease|Horton&apos;s Giant Cell Arteritis|Juvenile Temporal Arteritides|Juvenile Temporal Arteritis|Temporal Arteritides|Temporal Arteritides, Juvenile|Temporal Arteritis|Temporal Arteritis, Juvenile
D013705||Temporomandibular Joint Disorders|Diseases, Temporomandibular Joint|Diseases, TMJ|Disease, Temporomandibular Joint|Disease, TMJ|Disorders, Temporomandibular|Disorders, Temporomandibular Joint|Disorders, TMJ|Disorder, Temporomandibular|Disorder, Temporomandibular Joint|Disorder, TMJ|Joint Diseases, Temporomandibular|Joint Disease, Temporomandibular|Joint Disorders, Temporomandibular|Joint Disorder, Temporomandibular|Temporomandibular Disorder|Temporomandibular Disorders|Temporomandibular Joint Disease|Temporomandibular Joint Diseases|Temporomandibular Joint Disorder|TMJ Disease|TMJ Diseases|TMJ Disorder|TMJ Disorders
278300|C562584||Xanthinuria, Type I|Xanthine Dehydrogenase Deficiency|Xanthine Oxidase Deficiency|XDH Deficiency
D013706||Temporomandibular Joint Dysfunction Syndrome|Costen&apos;s Syndrome|Costens Syndrome|Costen Syndrome|Joint Syndrome, Temporomandibular|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|Syndrome, Costen&apos;s|Syndrome, Temporomandibular Joint|Syndrome, TMJ|Temporomandibular Joint Syndrome|TMJ Syndrome
C537143|602475||Ossification of the posterior longitudinal ligament of the spine|OPLL|Ossification of the Posterior Longitudinal Ligament of Spine
C563440|600802||Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative|SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative
D054219||Neoplasms, Plasma Cell|Neoplasm, Plasma Cell|Plasma Cell Neoplasm|Plasma Cell Neoplasms
D054218||Precursor T-Cell Lymphoblastic Leukemia-Lymphoma|Acute T-Cell Leukemia|Acute T-Cell Leukemias|Acute T-Lymphocytic Leukemia|Acute T-Lymphocytic Leukemias|Leukemia, Acute T-Cell|Leukemia, Acute T-Lymphocytic|Leukemia, Lymphoblastic, Acute, T Cell|Leukemia, Lymphoblastic, Acute, T-Cell|Leukemia, Lymphocytic, Acute T Cell|Leukemia, Lymphocytic, Acute, T-Cell|Leukemias, Acute T-Cell|Leukemias, Acute T-Lymphocytic|Leukemia, T-Cell, Acute|Lymphoblastic Leukemia, Acute, T Cell|Lymphoblastic Leukemia, Acute, T-Cell|Lymphocytic Leukemia, T Cell, Acute|Lymphocytic Leukemia, T-Cell, Acute|Precursor T Cell Lymphoblastic Leukemia|Precursor T-Cell Lymphoblastic Leukemia|Precursor T Cell Lymphoblastic Leukemia Lymphoma|Precursor T Cell Lymphoblastic Lymphoma|Precursor T-Cell Lymphoblastic Lymphoma|T-ALL|T-Cell Acute Lymphocytic Leukemia|T Cell Leukemia, Acute|T-Cell Leukemia, Acute|T-Cell Leukemias, Acute|T Lymphocytic Leukemia, Acute|T-Lymphocytic Leukemia, Acute|T-Lymphocytic Leukemias, Acute
