Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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developmental and epileptic encephalopathy 26 |
early infantile epileptic encephalopathy 26; DEE26..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 7 |
early infantile epileptic encephalopathy 7; KCNQ2-..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 33 |
early infantile epileptic encephalopathy 33; DEE33..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 53 |
early infantile epileptic encephalopathy 53; DEE53..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 30 |
early infantile epileptic encephalopathy 30; DEE30..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 2 |
A developmental and epileptic encephalopathy chara..[+]
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1 articles | ||
developmental and epileptic encephalopathy 1 |
early infantile epileptic encephalopathy 1; DEE1; ..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 36 |
early infantile epileptic encephalopathy 36; conge..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 82 |
early infantile epileptic encephalopathy 82; DEE82..
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A developmental and epileptic encephalopathy chara..[+]
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round cell sarcoma with EWSR1-non-ETS fusion |
Ewing-Like Sarcoma or Round Cell Sarcoma; Round Ce..
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A small cell sarcoma that is characterized by the ..[+]
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Huntington's disease-like 1 |
early-onset prion disease with prominent psychiatr..
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A prion disease that is characterized by a phenoco..[+]
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amelogenesis imperfecta type 1G |
An amelogenesis imperfecta that has_material_basis..[+]
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cataract 25 |
early-onset cataract with Y-shaped suture opacitie..
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A cataract that has_material_basis_in variation in..[+]
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rigid spine muscular dystrophy 1 |
A congenital muscular dystrophy characterized by i..[+]
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congenital myasthenic syndrome 5 |
A congenital myasthenic syndrome characterized by ..[+]
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neuronal ceroid lipofuscinosis 8 northern epilepsy variant |
EPMR; northern epilepsy variant, neuronal ceroid l..
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A neuronal ceroid lipofuscinosis that is character..[+]
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inflammatory bowel disease 28 |
early onset autosomal recessive inflammatory bowel..
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An inflammatory bowel disease characterized by aut..[+]
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inflammatory bowel disease 25 |
early onset autosomal recessive inflammatory bowel..
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An inflammatory bowel disease characterized by aut..[+]
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autosomal recessive isolated ectopia lentis 2 |
ECTOL2
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An isolated ectopia lentis that has_material_basis..[+]
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autosomal dominant isolated ectopia lentis 1 |
ECTOL1
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An isolated ectopia lentis that has_material_basis..[+]
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myofibrillar myopathy 9 |
Edstrom myopathy; autosomal dominant distal myopat..
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A myofibrillar myopathy characterized by adult ons..[+]
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pentosuria |
essential pentosuria; L-xylulose reductase deficie..
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An amino acid metabolic disorder characterized by ..[+]
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Oliver-McFarlane syndrome |
eyelashes long mental retardation; long eyelashes-..
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A syndrome characterized by trichomegaly, severe c..[+]
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occipital horn syndrome |
A metal metabolism disorder characterized by hyper..[+]
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idiopathic generalized epilepsy 10 |
EIG10
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 11 |
EIG11
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 12 |
EIG12
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 13 |
EIG13
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 14 |
EIG14
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 15 |
EIG15
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 2 |
EIG2
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 3 |
EIG3
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 4 |
EIG4
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 5 |
EIG5
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 7 |
EIG7
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 8 |
EIG8
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 9 |
EIG9
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An idiopathic generalized epilepsy that has_materi..[+]
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juvenile absence epilepsy 1 |
EJA1; JAE1
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A juvenile absence epilepsy that has_material_basi..[+]
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juvenile myoclonic epilepsy 10 |
EJM10
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A juvenile myoclonic epilepsy that has_material_ba..[+]
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juvenile myoclonic epilepsy 3 |
EJM3
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A juvenile myoclonic epilepsy that has_material_ba..[+]
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juvenile myoclonic epilepsy 4 |
EJM4
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A juvenile myoclonic epilepsy that has_material_ba..[+]
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juvenile myoclonic epilepsy 9 |
EJM9
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A juvenile myoclonic epilepsy that has_material_ba..[+]
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combined saposin deficiency |
encephalopathy due to prosaposin deficiency; combi..
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A sphingolipidosis characterized by absence of exp..[+]
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isolated elevated serum creatine phosphokinase levels |
elevated serum CPK; idiopathic hyperCKemia; isolat..
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An inherited metabolic disorder characterized by e..[+]
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multiple epiphyseal dysplasia with myopia and deafness |
EDMMD; multiple epiphyseal dysplasia, Beighton typ..
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A syndrome characterized by typically mild epiphys..[+]
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X-linked exudative vitreoretinopathy 2 |
EVRX; EVR2; FEVRX
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An exudative vitreoretinopathy that has_material_b..[+]
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progressive myoclonus epilepsy 4 |
EPM4; action myoclonus-renal failure syndrome; AMR..
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A progressive myoclonus epilepsy characterized by ..[+]
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progressive myoclonus epilepsy 10 |
EPM10; early-onset Lafora body disease
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A progressive myoclonus epilepsy characterized by ..[+]
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progressive myoclonus epilepsy 3 |
EPM3; CLN14 disease; neuronal ceroid lipofuscinosi..
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A progressive myoclonus epilepsy characterized by ..[+]
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progressive myoclonus epilepsy 7 |
EPM7; MEAK; Myoclonus epilepsy and ataxia due to p..
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A progressive myoclonus epilepsy characterized by ..[+]
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1 articles |
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