Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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acrodermatitis enteropathica |
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A metal metabolism disorder characterized by derma..[+]
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acrokeratosis verruciformis |
Acrokeratosis verruciformis of Hopf; Hopf disease; ..
[+]
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n_a
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Askin's tumor |
Askin tumor
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n_a
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advanced sleep phase syndrome |
familial advanced sleep-phase syndrome
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A sleep disorder that involves an altered circadia..[+]
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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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Aland Island eye disease |
Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE O..
[+]
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n_a
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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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alopecia universalis |
ALOPECIA UNIVERSALIS CONGENITA
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n_a
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alternating hemiplegia of childhood |
AHC
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A hemiplegia characterized by recurrent episodes o..[+]
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anauxetic dysplasia 1 |
spondylometaepiphyseal dysplasia, Menger type
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A spondyloepimetaphyseal dysplasia that is charact..[+]
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anonychia congenita |
HYPONYCHIA CONGENITA
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n_a
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arterial calcification of infancy |
generalized arterial calcification of infancy; idi..
[+]
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A vascular disease that is characterized by genera..[+]
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arterial tortuosity syndrome |
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A connective tissue disease that is characterized ..[+]
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Arts syndrome |
ARTS; fatal X-linked ataxia with deafness and loss..
[+]
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An X-linked disease that is characterized by profo..[+]
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atelosteogenesis |
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n_a
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atransferrinemia |
familial hypotransferrinemia
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A metal metabolism disorder that is characterized ..[+]
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atrioventricular septal defect |
A congenital heart septal defect characterized by ..[+]
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alcohol-related neurodevelopmental disorder |
ARND; static encephalopathy
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A fetal alcohol spectrum disorder that results in ..[+]
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alcohol-related birth defects |
ARBD
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A fetal alcohol spectrum disorder that results in ..[+]
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ataxic cerebral palsy |
hypotonic cerebral palsy
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A cerebral palsy that is caused by damage to the c..[+]
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Athabaskan brainstem dysgenesis syndrome |
NAVAJO BRAINSTEM SYNDROME
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A brain disease that is characterized by brainstem..[+]
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anal canal cancer |
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A large intestine cancer that is located_in the te..[+]
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adolescence-adult electroclinical syndrome |
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An electroclinical syndrome with onset in adolesce..[+]
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aceruloplasminemia |
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An iron metabolism disease that has_material_basis..[+]
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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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autosomal dominant disease |
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An autosomal genetic disease that is characterized..[+]
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autosomal recessive disease |
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An autosomal genetic disease that is characterized..[+]
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autosomal genetic disease |
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A monogenic disease that is has material basis in ..[+]
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alcohol dependence |
alcoholism
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n_a
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anaplastic large cell lymphoma |
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A non-Hodgkin lymphoma involving aberrant T-cells.
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amyotrophic lateral sclerosis type 8 |
amyotrophic lateral sclerosis 8; ALS8
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An amyotrophic lateral sclerosis that has material..[+]
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ataxia with oculomotor apraxia type 1 |
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n_a
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ataxia with oculomotor apraxia type 2 |
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n_a
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adenylosuccinase lyase deficiency |
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n_a
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ARC syndrome |
A syndrome that is characterized by congenital joi..[+]
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Armfield syndrome |
Armfield X-linked mental retardation syndrome; men..
[+]
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A syndromic X-linked intellectual disability chara..[+]
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achalasia microcephaly syndrome |
A syndrome that is characterized by microcephaly, ..[+]
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androgenic alopecia |
n_a
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atrioventricular block |
AV block
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A heart conduction disease that is characterized b..[+]
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artery disease |
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A vascular disease that is located_in an artery.
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anismus |
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n_a
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arteritic anterior ischemic optic neuropathy |
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n_a
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adrenal cortical adenoma |
adrenocortical adenoma
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An adrenal adenoma that is a benign tumor of the a..[+]
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adrenal gland pheochromocytoma |
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An adrenal medulla cancer that is characterized by..[+]
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ameloblastoma |
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A cell type benign neoplasm that has_material_basi..[+]
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appendix carcinoid tumor |
appendix carcinoid endocrine tumour
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An appendix cancer that has_material_basis_in neur..[+]
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autosomal dominant hypophosphatemic rickets |
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A rickets characterized by low levels of serum pho..[+]
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autosomal recessive hypophosphatemic rickets |
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A rickets that has_material_basis_in autosomal rec..[+]
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autosomal recessive cerebellar ataxia |
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A hereditary ataxia that has_material_basis_in aut..[+]
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autosomal dominant cerebellar ataxia, deafness and narcolepsy |
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n_a
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