Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Parkinson's disease 20 |
An early-onset Parkinson disease that has_material..[+]
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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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X-linked Emery-Dreifuss muscular dystrophy 1 |
An Emery-Dreifuss muscular dystrophy that has_mate..[+]
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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 |
A congenital disorder of glycosylation type II tha..[+]
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multiple epiphyseal dysplasia 2 |
EDM2
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A multiple epiphyseal dysplasia due to collagen 9 ..[+]
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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 6 |
EDM6
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A multiple epiphyseal dysplasia due to collagen 9 ..[+]
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multiple epiphyseal dysplasia 7 |
EDM7
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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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multiple epiphyseal dysplasia 3 |
EDM3; multiple epiphyseal dysplasia 3 with or with..
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A multiple epiphyseal dysplasia due to collagen 9 ..[+]
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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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developmental and epileptic encephalopathy 98 |
early infantile epileptic encephalopathy 98; DEE98..
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A developmental and epileptic encephalopathy chara..[+]
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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 100 |
early infantile epileptic encephalopathy 100; DEE1..
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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 102 |
early infantile epileptic encephalopathy 102; DEE1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 103 |
early infantile epileptic encephalopathy 103; DEE1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 104 |
early infantile epileptic encephalopathy 104; 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 106 |
early infantile epileptic encephalopathy 106; 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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developmental and epileptic encephalopathy 108 |
early infantile epileptic encephalopathy 108; DEE1..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 110 |
early infantile epileptic encephalopathy 110; DEE1..
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A developmental and epileptic encephalopathy chara..[+]
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peeling skin syndrome 4 |
exfoliative ichthyosis; AREI; autosomal recessive ..
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A peeling skin syndrome that has_material_basis_in..[+]
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peeling skin syndrome 5 |
exfoliative ichthyosis; autosomal recessive exfoli..
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A peeling skin syndrome that has_material_basis_in..[+]
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mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
ECHS1D
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A mitochondrial metabolism disease characterized b..[+]
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glucose transporter type 1 deficiency syndrome 1 |
encephalopathy due to GLUT1 deficiency; classic gl..
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A glucose transporter type 1 deficiency syndrome c..[+]
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multiple congenital anomalies-hypotonia-seizures syndrome 2 |
early infantile epileptic encephalopathy 20; devel..
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A multiple congenital anomalies-hypotonia-seizures..[+]
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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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1 articles | |
developmental and epileptic encephalopathy 8 |
A developmental and epileptic encephalopathy chara..[+]
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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 55 |
early infantile epileptic encephalopathy 55; DEE55..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 57 |
early infantile epileptic encephalopathy 57; DEE57..
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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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developmental and epileptic encephalopathy 59 |
early infantile epileptic encephalopathy 59; DEE59..
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A developmental and epileptic encephalopathy chara..[+]
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