Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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multiple acyl-CoA dehydrogenase deficiency |
electron transfer flavoprotein ubiquinone oxidored..
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An inherited metabolic disorder characterized by t..[+]
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autosomal recessive early-onset Parkinson disease 6 |
early-onset Parkinson disease 6
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A Parkinson's disease that has_material_basis_in m..[+]
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orofaciodigital syndrome VIII |
Edwards syndrome; OFD8
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n_a
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corneal endothelial dystrophy |
endothelial dystrophy
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n_a
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familial erythrocytosis 2 |
ECYT2; autosomal recessive benign erythrocytosis; ..
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A primary polycythemia that has_material_basis_in ..[+]
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childhood onset epileptic encephalopathy |
EEOC
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An idiopathic generalized epilepsy characterized b..[+]
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MEDNIK syndrome |
A syndrome characterized by mental retardation, en..[+]
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familial erythrocytosis 1 |
ECYT1; autosomal dominant benign erythrocytosis; p..
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A primary polycythemia that has_material_basis_in ..[+]
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autosomal dominant nocturnal frontal lobe epilepsy |
ENFL
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A frontal lobe epilepsy that is characterized by a..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 1 |
ENFL1; nocturnal frontal lobe epilepsy 1
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 2 |
ENFL2; nocturnal frontal lobe epilepsy 2
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 3 |
ENFL3; nocturnal frontal lobe epilepsy 3
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 4 |
ENFL4; nocturnal frontal lobe epilepsy 4
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 5 |
ENFL5; nocturnal frontal lobe epilepsy 5
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An autosomal dominant nocturnal frontal lobe epile..[+]
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junctional epidermolysis bullosa with pyloric atresia |
epidermolysis bullosa junctionalis with pyloric at..
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A junctional epidermolysis bullosa characterized b..[+]
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junctional epidermolysis bullosa Herlitz type |
epidermolysis bullosa letalis; Herlitz type epider..
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A junctional epidermolysis bullosa characterized b..[+]
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basal laminar drusen |
early adult-onset grouped drusen; cuticular drusen..
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A retinal drusen characterized by yellow-white dep..[+]
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familial temporal lobe epilepsy 1 |
ETL1; partial epilepsy with auditory features
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A temporal lobe epilepsy characterized by autosoma..[+]
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familial temporal lobe epilepsy 6 |
ETL6
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A temporal lobe epilepsy that has_material_basis_i..[+]
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familial temporal lobe epilepsy 7 |
ETL7
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A temporal lobe epilepsy characterized by autosoma..[+]
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familial temporal lobe epilepsy 5 |
ETL5
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A temporal lobe epilepsy that has_material_basis_i..[+]
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familial temporal lobe epilepsy 4 |
A temporal lobe epilepsy characterized by autosoma..[+]
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familial temporal lobe epilepsy 8 |
ETL8
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A temporal lobe epilepsy characterized by autosoma..[+]
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familial temporal lobe epilepsy 2 |
ETL2
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A temporal lobe epilepsy characterized by autosoma..[+]
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congenital malabsorptive diarrhea 4 |
enteric anendocrinosis; congenital malabsorptive d..
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A congenital diarrhea characterized by chronic unr..[+]
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Norrie disease |
Episkopi blindness; atrophia bulborum hereditaria; ..
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A X-linked disease characterized by X-linked reces..[+]
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prune belly syndrome |
Eagle-Barret syndrome; abdominal muscle deficiency..
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A syndrome that is characterized by megacystis wit..[+]
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Revesz syndrome |
exudative retinopathy with bone marrow failure; DK..
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A dyskeratosis congenita that has_material_basis_i..[+]
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familial hyperinsulinemic hypoglycemia 7 |
A hyperinsulinemic hypoglycemia characterized by a..[+]
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X-linked Emery-Dreifuss muscular dystrophy 6 |
An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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congenital disorder of glycosylation type IIm |
epileptic encephalopathy, early infantile, 22; con..
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A congenital disorder of glycosylation type II tha..[+]
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multiple epiphyseal dysplasia 5 |
EDM5; BHMED; bilateral hereditary microepiphyseal ..
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A multiple epiphyseal dysplasia that has_material_..[+]
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multiple epiphyseal dysplasia 7 |
EDM7
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A multiple epiphyseal dysplasia that has_material_..[+]
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developmental and epileptic encephalopathy 99 |
early infantile epileptic encephalopathy 99; DEE99..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 101 |
early infantile epileptic encephalopathy 101; DEE1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 105 |
early infantile epileptic encephalopathy 105; DEE1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 107 |
early infantile epileptic encephalopathy 107; DEE1..
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A developmental and epileptic encephalopathy chara..[+]
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bladder exstrophy-epispadias-cloacal exstrophy complex |
exstrophy-epispadias complex
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A physical disorder that is characterized as a spe..[+]
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developmental and epileptic encephalopathy 56 |
early infantile epileptic encephalopathy 56; DEE56..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 58 |
early infantile epileptic encephalopathy 58; DEE58..
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A developmental and epileptic encephalopathy chara..[+]
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familial erythrocytosis 5 |
ECYT5
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A primary polycythemia characterized by autosomal ..[+]
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familial erythrocytosis 3 |
ECYT3
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A primary polycythemia that has_material_basis_in ..[+]
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developmental and epileptic encephalopathy 18 |
early infantile epileptic encephalopathy 18; DEE18..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 54 |
early infantile epileptic encephalopathy 54; DEE54..
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A developmental and epileptic encephalopathy chrar..[+]
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developmental and epileptic encephalopathy 62 |
early infantile epileptic encephalopathy 62; DEE62..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 44 |
early infantile epileptic encephalopathy 44; DEE44..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 19 |
early infantile epileptic encephalopathy 19; DEE19..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 51 |
early infantile epileptic encephalopathy 51; DEE51..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 5 |
early infantile epileptic encephalopathy 5; DEE5
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 3 |
early infantile epileptic encephalopathy 3
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A developmental and epileptic encephalopathy chara..[+]
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