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Disease                  Synonyms                  Description
2-hydroxyglutaric aciduria
An amino acid metabolic disorder that is an autosomal recess..[+]
3-M syndrome
dolichospondylic dysplasia; gloomy face syndrome; Le Merrer .. [+]
An autosomal recessive disease characterized by dwarfism, fa..[+]
3-Methylcrotonyl-CoA carboxylase deficiency
3MCC deficiency; BMCC deficiency; 3-Methylcrotonylglycinuria.. [+]
An amino acid metabolic disorder that has_material_basis_in ..[+]
3-methylglutaconic aciduria
An organic acidemia that is characterized by elevated levels..[+]
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type I; 3MG-CoA hydratase defici.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type III; autosomal recessive op.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in mut..[+]
3-methylglutaconic aciduria type 4
MGA type IV; MGA4; MGCA4; 3-methylglutaconic aciduria type I.. [+]
A 3-methylglutaconic aciduria that is characterized by mild ..[+]
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type V; DCMA syndrome; MGA5; MGC.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria type 7; 3-methylglutaconic acidu.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria type 6; MEGDEL; MGCA6; MEGDEL sy.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3MC syndrome
oculopalatoskeletal syndrome ; craniofacial-ulnar-renal synd.. [+]
A syndrome characterized by blepharophimosis, blepharoptosis..[+]
3MC syndrome 1
A 3MC syndrome that has_material_basis_in homozygous mutatio..[+]
3MC syndrome 2
A 3MC syndrome that has_material_basis_in homozygous mutatio..[+]
3MC syndrome 3
A 3MC syndrome that has_material_basis_in a compound heteroz..[+]
3p- syndrome
chromosome 3pter-P25 deletion syndrome; distal monosomy 3p;
n_a
46 XX gonadal dysgenesis
A gonadal dysgenesis that is characterized by the lack of fu..[+]
46 XY gonadal dysgenesis
46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY; Swyer syn.. [+]
A gonadal dysgenesis that is characterized by a normal 46,XY..[+]
ABCD syndrome
albinism, block lock, cell migration disorder of the neurocy.. [+]
An autosomal recessive disease that is characterized by albi..[+]
ACTH-secreting pituitary adenoma
ACTH-Producing Pituitary Adenoma; Corticotroph adenoma; Cort.. [+]
A functioning pituitary adenoma that characterized by excess..[+]
ADULT syndrome
acro-dermato-ungual-lacrimal-tooth syndrome;
An autosomal dominant disease that is characterized by light..[+]
AGAT deficiency
arginine:glycine amidinotransferase deficiency; CEREBRAL CRE.. [+]
An amino acid metabolic disorder that has_material_basis_in ..[+]
AIDS phobia
n_a
APP-related cerebral amyloid angiopathy
Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Here.. [+]
A cerebral amyloid angiopathy that has_material_basis_in an ..[+]
ARC syndrome
Arthrogryposis, renal dysfunction and cholestasis (ARC) synd.. [+]
A syndrome that is characterized by congenital joint contrac..[+]
Aagenaes syndrome
Cholestasis-edema syndrome, Norwegian type (disorder);
A syndrome that is characterized by congenital hypoplasia of..[+]
Aarskog syndrome
Aarskog-Scott syndrome; faciogenital dysplasia; Greig's synd.. [+]
A monogenic disease affects a person's height, muscles, skel..[+]
Achard syndrome
A syndrome that involves arachnodactyly, receding lower jaw,..[+]
Achenbach syndrome
Paroxysmal hematoma of the finger (disorder);
n_a
Achilles bursitis
Achilles bursitis or tendinitis; Capped hock; Haglund's defo.. [+]
n_a
Adams-Oliver syndrome
Adams Oliver syndrome;
A syndrome characterized by defects of the scalp (aplasia cu..[+]
Addison's disease
Addison disease; Addison disease, chronic adrenal insufficie.. [+]
An adrenal cortical hypofunction that is characterized by in..[+]
Adie syndrome
Adie's pupil or syndrome; Adie's syndrome; Holmes-Adie syndr.. [+]
A syndrome that is a neurological disorder affecting the pup..[+]
African histoplasmosis
A histoplasmosis that results_in systemic fungal infection, ..[+]
African iron overload
Bantu siderosis; iron overload in Africa;
A hemochromatosis characterized by a predisposition to iron ..[+]
African tick-bite fever
Rickettsia africae spotted fever; south african tick-bite fe.. [+]
A spotted fever that has_material_basis_in Rickettsia africa..[+]
Aicardi syndrome
A syndrome that is characterized by absence or underdevelope..[+]
Aicardi-Goutieres syndrome
Cree encephalitis;
An autosomal recessive disease that is a genetically heterog..[+]
Alagille syndrome
Alagille-Watson syndrome; Arteriohepatic dysplasia (disorder.. [+]
A liver disease that is characterized by an accumulation of ..[+]
Aland Island eye disease
Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBI.. [+]
n_a
Albright's hereditary osteodystrophy
Albright hereditary osteodystrophy; pseudohypoparathyroidism.. [+]
An osteochondrodysplasia that has_material_basis_in lack of ..[+]
Alexander disease
Alexander's disease;
A leukodystrophy that is characterized by the destruction of..[+]
Alkhurma hemorrhagic fever
A viral infectious disease that is a hemorrhagic fever, has_..[+]
Allan-Herndon-Dudley syndrome
ALLAN-HERNDON SYNDROME;
An X-linked disease that has material basis in mutation at i..[+]
Alpers syndrome
Alper's syndrome; ALPERS PROGRESSIVE INFANTILE POLIODYSTROPH.. [+]
A cerebral degeneration that results in progressive degenera..[+]
Alport syndrome
Hereditary Nephritis;
A monogenic disease that is characterized by glomerulonephri..[+]
Alstrom syndrome
An autosomal recessive disease that is characterized by mult..[+]
Alzheimer's disease
AD; Alzheimer disease; Alzheimer disease, familial; Alzheime.. [+]
A tauopathy that is characterized by memory lapses, confusio..[+]
Alzheimer's disease 10
AD10; Alzheimer disease 10; Alzheimer disease familial 10;
An Alzheimer's disease that is characterized by an associate..[+]
Alzheimer's disease 11
AD11; Alzheimer disease 11;
An Alzheimer's disease that is characterized by an associate..[+]
Alzheimer's disease 12
Alzheimer disease 12; Alzheimer disease familial 12; AD12;
An Alzheimer's disease that is characterized by an associate..[+]

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