Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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2-hydroxyglutaric aciduria |
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An amino acid metabolic disorder that is an autoso..[+]
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3-M syndrome |
dolichospondylic dysplasia; gloomy face syndrome; ..
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A syndrome characterized by dwarfism, facial dysmo..[+]
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3-methylcrotonyl-CoA carboxylase deficiency |
3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC ..
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An amino acid metabolic disorder that is classifie..[+]
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3-methylglutaconic aciduria |
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An organic acidemia that is characterized by eleva..[+]
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3-methylglutaconic aciduria type 1 |
3-methylglutaconic aciduria type I; 3-methylglutac..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 3 |
3-methylglutaconic aciduria type III; autosomal re..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 4 |
3-methylglutaconic aciduria type IV; MGA type IV; ..
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A 3-methylglutaconic aciduria that is characterize..[+]
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3-methylglutaconic aciduria type 5 |
3-methylglutaconic aciduria type V; DCMA; DCMA syn..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 7a |
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A 3-methylglutaconic aciduria that is characterize..[+]
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3-methylglutaconic aciduria type 9 |
3-methylglutaconic acuduria type IX, MGCA9;
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
3-methylglutaconic aciduria type 7; 3-methylglutac..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
3-methylglutaconic aciduria type 6; MEGDEL; MEGDEL..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3MC syndrome |
craniofacial-ulnar-renal syndrome; oculopalatoskel..
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A syndrome characterized by blepharophimosis, blep..[+]
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3MC syndrome 1 |
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A 3MC syndrome that has_material_basis_in autosoma..[+]
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3MC syndrome 2 |
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A 3MC syndrome that has_material_basis_in homozygo..[+]
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3MC syndrome 3 |
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A 3MC syndrome that has_material_basis_in a compou..[+]
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3p- syndrome |
chromosome 3pter-P25 deletion syndrome; distal mon..
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n_a
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4-tert-butylphenol allergic contact dermatitis |
allergic contact dermatitis to butylphen; allergic..
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An allergic contact dermatitis that has_allergic_t..[+]
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46 XX gonadal dysgenesis |
ovarian dysgenesis;
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A gonadal dysgenesis that is characterized by the ..[+]
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46 XY gonadal dysgenesis |
46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY;..
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A gonadal dysgenesis that is characterized by a no..[+]
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46,XX sex reversal 5 |
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A 46,XX sex reversal that is characterized by geni..[+]
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46,XY sex reversal 3 |
46,XY gonadal dysgenesis, partial or complete, wit..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 5 |
46,XY gonadal dysgenesis, complete, CBX2-related; ..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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ABCD syndrome |
albinism, block lock, cell migration disorder of t..
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An autosomal recessive disease that is characteriz..[+]
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ACTH-secreting pituitary adenoma |
ACTH-Producing Pituitary Adenoma; Corticotroph ade..
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A functioning pituitary adenoma that characterized..[+]
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ADULT syndrome |
acro-dermato-ungual-lacrimal-tooth syndrome;
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An autosomal dominant disease that is characterize..[+]
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AGAT deficiency |
arginine:glycine amidinotransferase deficiency; CE..
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An amino acid metabolic disorder that has_material..[+]
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AIDS phobia |
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n_a
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AMME complex |
Alport syndrome-intellectual disability-midface hy..
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A syndrome characterized by Alport syndrome, menta..[+]
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APP-related cerebral amyloid angiopathy |
Amyloidosis, Cerebroarterial, App-Related; Amyloid..
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A cerebral amyloid angiopathy that has_material_ba..[+]
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ARC syndrome |
Arthrogryposis, renal dysfunction and cholestasis ..
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A syndrome that is characterized by congenital joi..[+]
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Aagenaes syndrome |
Cholestasis-edema syndrome, Norwegian type (disord..
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A syndrome that is characterized by congenital hyp..[+]
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Abruzzo-Erickson syndrome |
CHARGE-like syndrome, X-linked; cleft palate-colob..
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A syndrome characterized by cleft palate, coloboma..[+]
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Achard syndrome |
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A syndrome that involves arachnodactyly, receding ..[+]
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Achenbach syndrome |
Paroxysmal hematoma of the finger (disorder);
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n_a
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Achilles bursitis |
Achilles bursitis or tendinitis; Capped hock; Hagl..
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n_a
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Adams-Oliver syndrome |
Adams Oliver syndrome;
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A syndrome characterized by defects of the scalp (..[+]
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Addison's disease |
Addison disease; Addison disease, chronic adrenal ..
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An adrenal cortical hypofunction that is character..[+]
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Adie syndrome |
Adie's pupil or syndrome; Adie's pupil syndrome; A..
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A syndrome that is a neurological disorder affecti..[+]
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African histoplasmosis |
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A histoplasmosis that results in systemic fungal i..[+]
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African iron overload |
Bantu siderosis; iron overload in Africa;
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A hemochromatosis characterized by a predispositio..[+]
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African tick-bite fever |
Rickettsia africae spotted fever; south african ti..
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A spotted fever that has_material_basis_in Rickett..[+]
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Aicardi syndrome |
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A syndrome that is characterized by absence or und..[+]
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Aicardi-Goutieres syndrome |
Cree encephalitis;
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An autosomal recessive disease that is a genetical..[+]
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Alagille syndrome |
Alagille-Watson syndrome; Arteriohepatic dysplasia..
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A liver disease that is characterized by an accumu..[+]
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Aland Island eye disease |
Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE O..
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n_a
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Albright's hereditary osteodystrophy |
Albright hereditary osteodystrophy; pseudohypopara..
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An osteochondrodysplasia that has_material_basis_i..[+]
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Alexander disease |
Alexander's disease;
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A leukodystrophy that is characterized by the dest..[+]
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Alkhurma hemorrhagic fever |
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A viral infectious disease that is a hemorrhagic f..[+]
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Allan-Herndon-Dudley syndrome |
ALLAN-HERNDON SYNDROME;
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An X-linked disease that has material basis in mut..[+]
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