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

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