Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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drug allergy |
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A hypersensitivity reaction type I disease trigger..[+]
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dicarboxylic aminoaciduria |
glutamate-aspartate transport defect
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An amino acid metabolic disorder that is character..[+]
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1 articles | |
Doyne honeycomb retinal dystrophy |
Doyne honeycomb degeneration of retina; DHRD
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A retinal drusen characterized by yellow-white dep..[+]
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Duane-radial ray syndrome |
Duane anomaly with radial ray abnormalities and de..
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A syndrome characterized by upper limb anomalies, ..[+]
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dextro-looped transposition of the great arteries |
A congenital heart disease characterized by comple..[+]
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1 articles | ||
deafness-intellectual disability, Martin-Probst type syndrome |
Martin-Probst syndrome; mental retardation, X-link..
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A syndromic X-linked intellectual disability chara..[+]
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developmental and epileptic encephalopathy 9 |
DEE9; early infantile female-limited epilecptic en..
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A developmental and epileptic encephalopathy chara..[+]
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developmental dysplasia of the hip |
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A bone development disease characterized by abnorm..[+]
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developmental dysplasia of the hip 1 |
DDH1
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A developmental dysplasia of the hip that is chara..[+]
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developmental dysplasia of the hip 2 |
DDH2
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A developmental dysplasia of the hip that is chara..[+]
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developmental delay, dysmorphic facies, and brain anomalies |
DEVDFB
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An autosomal dominant intellectual developmental d..[+]
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dystonia 28, childhood-onset |
DYT28; DYSTONIA 28, CHILDHOOD-ONSET
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A dystonia characterized by onset of progressive d..[+]
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dystonia 30 |
DYT30
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A dystonia characterized by the onset of symptoms ..[+]
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dystonia 31 |
DYT31; ZECH-BOESCH SYNDROME
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A dystonia characterized by age at onset ranges fr..[+]
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dystonia 32 |
DYT32
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A dystonia characterized by onset of symptoms in ..[+]
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dystonia 33 |
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A dystonia characterized by a neurologic disorder..[+]
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dystonia 35, childhood-onset |
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A dystonia characterized by the onset of a dystoni..[+]
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dystonia 37, early-onset with striatal lesions |
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A dystonia characterized by the onset of progressi..[+]
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dystonia, DOPA-responsive |
A dystonia characterized by generalized dystonia, ..[+]
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dystonia 22, juvenile-onset |
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A dystonia characterized by progressive, generaliz..[+]
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dystonia 22, adult-onset |
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A dystonia characterized by focal dystonia or trem..[+]
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distal myopathy 1 |
Distal myopathy type 1; Gowers disease; Laing dist..
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A distal myopathy that is characterized by autosom..[+]
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dry beriberi |
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A beriberi that is located_in the nervous system a..[+]
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developmental and epileptic encephalopathy 64 |
DEE64; early infantile epileptic encephalopathy 64..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 31B |
DEE31B
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 96 |
DEE96
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 109 |
DEE109
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 6B |
DEE6B
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 85 |
DEE85; early infantile epileptic encephalopathy 85..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 90 |
DEE90
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 95 |
DEE95; early infantile epileptic encephalopathy 95..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 97 |
DEE97; early infantile epileptic encephalopathy 97..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 98 |
DEE98; early infantile epileptic encephalopathy 98..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 99 |
DEE99; early infantile epileptic encephalopathy 99..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 100 |
DEE100; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 101 |
DEE101; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 102 |
DEE102; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 103 |
DEE103; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 104 |
DEE104; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 105 |
DEE105; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 106 |
DEE106; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 107 |
DEE107; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 108 |
DEE108; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 110 |
DEE110; early infantile epileptic encephalopathy 1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental delay, hypotonia, and impaired language |
DEDHIL
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An autosomal dominant intellectual developmental d..[+]
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diphthamide deficiency syndrome |
developmental delay with short stature, dysmorphic..
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An inherited metabolic disorder characterized by g..[+]
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diphthamide deficiency syndrome 1 |
A diphthamide deficiency syndrome that has_materia..[+]
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diphthamide deficiency syndrome 2 |
developmental delay with short stature, dysmorphic..
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A diphthamide deficiency syndrome that has_materia..[+]
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dopamine transporter deficiency syndrome |
DTDS
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A movement disease characterized by parkinsonism-d..[+]
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developmental and epileptic encephalopathy 116 |
DEE116
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A developmental and epileptic encephalopathy chara..[+]
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