Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Meier-Gorlin syndrome |
ear-patella-short stature syndrome
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A syndrome that is characterized by bilateral unde..[+]
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adenoid hypertrophy |
enlarged adenoids; adenoidal hypertrophy
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An upper respiratory tract disease characterized b..[+]
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Rapp-Hodgkin syndrome |
An ectodermal dysplasia characterized by abnormal ..[+]
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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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Parkinson's disease 6 |
early-onset Parkinson disease 6; autosomal recessi..
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An early-onset Parkinson's disease that has_materi..[+]
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orofaciodigital syndrome VIII |
Edwards syndrome; OFD8
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An orofaciodigital syndrome that is characterized ..[+]
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corneal endothelial dystrophy |
endothelial dystrophy
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n_a
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3 articles | |
familial erythrocytosis 2 |
ECYT2; Chuvash erythromatosis; Chuvash type polycy..
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A primary polycythemia that has_material_basis_in ..[+]
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myoclonic-atonic epilepsy |
EEOC; childhood onset epileptic encephalopathy
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An idiopathic generalized epilepsy characterized b..[+]
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4 articles | |
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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7 articles | |
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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1 articles | |
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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2 articles | |
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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1 articles | |
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; Norrie-Warburg disease; atroph..
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A syndrome characterized by degenerative and proli..[+]
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1 articles | |
developmental and epileptic encephalopathy 9 |
A developmental and epileptic encephalopathy chara..[+]
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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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primary coenzyme Q10 deficiency 5 |
encephalopathy-hypertrophic cardiomyopathy-renal t..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
Emery-Dreifuss muscular dystrophy, autosomal domin..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal recessive Emery-Dreifuss muscular dystrophy 3 |
Emery-Dreifuss muscular dystrophy 3, autosomal rec..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 4 |
Emery-Dreifuss muscular dystrophy 4, autosomal dom..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 5 |
Emery-Dreifuss muscular dystrophy 5, autosomal dom..
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An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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X-linked Emery-Dreifuss muscular dystrophy 6 |
An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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autosomal dominant Emery-Dreifuss muscular dystrophy 7 |
Emery-Dreifuss muscular dystrophy 7, autosomal dom..
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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 4 |
EDM4; MED4; multiple epiphyseal dysplasia with clu..
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A multiple epiphyseal dysplasia that has_material_..[+]
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multiple epiphyseal dysplasia 1 |
EDM1; MED1; multiple epiphyseal dysplasia COMP-rel..
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A multiple epiphyseal dysplasia that has_material_..[+]
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Miura type epiphyseal chondrodysplasia |
ECDM; tall stature-scoliosis-macrodactyly of the g..
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A bone developmental disease characterized by tall..[+]
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systemic Epstein-Barr virus positive T-cell lymphoma of childhood |
EBV-positive T-cell lymphoproliferative disorder o..
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A childhood lymphoma that is characterized by mono..[+]
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developmental and epileptic encephalopathy 64 |
early infantile epileptic encephalopathy 64; DEE64..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 85 |
early infantile epileptic encephalopathy 85; DEE85..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 95 |
early infantile epileptic encephalopathy 95; DEE95..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 97 |
early infantile epileptic encephalopathy 97; DEE97..
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A developmental and epileptic encephalopathy chara..[+]
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