Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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acromesomelic dysplasia, Grebe type |
GREBE CHONDRODYSPLASIA
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An acromesomelic dysplasia that has_material_basis..[+]
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Albright's hereditary osteodystrophy |
Albright hereditary osteodystrophy; pseudohypopara..
[+]
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An osteochondrodysplasia that has_material_basis_i..[+]
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achondrogenesis type IA |
achondrogenesis Houston-Harris type
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An achondrogenesis that results_in abnormal ossifi..[+]
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achondrogenesis type IB |
achondrogenesis Fraccaro type
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An achondrogenesis that has_material_basis_in muta..[+]
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achondrogenesis type II |
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An achondrogenesis that has_material_basis_in muta..[+]
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autosomal recessive spinocerebellar ataxia 15 |
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n_a
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autosomal recessive spinocerebellar ataxia 14 |
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n_a
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autosomal recessive spinocerebellar ataxia 7 |
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n_a
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autosomal recessive spinocerebellar ataxia 12 |
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n_a
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autosomal recessive spinocerebellar ataxia 2 |
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n_a
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autosomal recessive spinocerebellar ataxia 13 |
SCAR13
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal recessive spinocerebellar ataxia 11 |
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n_a
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autosomal recessive spinocerebellar ataxia 17 |
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n_a
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autosomal recessive spinocerebellar ataxia 19 |
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n_a
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autosomal recessive spinocerebellar ataxia 20 |
SCAR20
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An autosomal recessive cerebellar ataxia that is c..[+]
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adult acute monocytic leukemia |
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An acute monocytic leukemia occurring in adults.
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adrenocorticotropic hormone deficiency |
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A hypopituitarrium that is characterized by a decr..[+]
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adenoid cystic carcinoma |
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An adenocarcinoma that is characterized by bands o..[+]
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amyotrophic lateral sclerosis type 23 |
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An amyotrophic lateral sclerosis that has_material..[+]
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autosomal dominant intellectual developmental disorder 56 |
An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 55 |
An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 51 |
autosomal dominant mental retardation 51
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant intellectual developmental disorder 45 |
autosomal dominant mental retardation 45
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An autosomal dominant intellectual developmental d..[+]
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autosomal recessive intellectual developmental disorder 61 |
An autosomal recessive intellectual developmental ..[+]
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autosomal recessive congenital ichthyosis 13 |
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An autosomal recessive congenital ichthyosis that ..[+]
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autosomal recessive nonsyndromic deafness 106 |
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 108 |
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal dominant nonsyndromic deafness 72 |
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An autosomal dominant nonsyndromic deafness that h..[+]
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autosomal dominant nonsyndromic deafness 34 |
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An autosomal dominant nonsyndromic deafness that h..[+]
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acquired generalized lipodystrophy |
Lawrence syndrome
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A complete generalized lipodystrophy that is charc..[+]
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aortic valve disease 1 |
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A bicuspid aortic valve disease that has_material_..[+]
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autosomal recessive pyridoxine-refractory sideroblastic anemia 3 |
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A sideroblastic anemia that is characterized by ho..[+]
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Alzheimer's disease 1 |
Alzheimer's disease 1, early onset
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An Alzheimer's disease that has_material_basis_in ..[+]
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ankylosing spondylitis 1 |
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A ankylosing spondylitis that has_material_basis_i..[+]
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anterior segment dysgenesis 3 |
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An anterior segment dysgenesis that has_material_b..[+]
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anterior segment dysgenesis 5 |
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An anterior segment dysgenesis that has_material_b..[+]
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alopecia-mental retardation syndrome 1 |
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An alopecia-mental retardation syndrome that has_m..[+]
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autoimmune cholangitis |
autoimmune cholangiopathy
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An autoimmune hepatitis that is characterized by p..[+]
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autosomal dominant keratosis follicularis spinulosa decalvans |
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A keratosis follicularis spinulosa decalvans that ..[+]
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autosomal dominant beta thalassemia |
inclusion body beta-thalassemia
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A beta thalassemia that has_material_basis_in one ..[+]
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anaplastic pleomorphic xanthoastrocytoma |
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A malignant astrocytoma that is characterized by t..[+]
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astrocytoma, IDH-mutant, grade 4 |
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An IDH-mutant anaplastic astrocytoma that is chara..[+]
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astroblastoma, MN1-altered |
CNS high-grade neuroepithelial tumors with MN1 alt..
[+]
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An astroblastoma that is characterized by astrobla..[+]
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acquired angioedema |
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An angioedema that is characterized by an acquired..[+]
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agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
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A syndrome that is characterized by global develop..[+]
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alopecia-mental retardation syndrome 4 |
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An alopecia-mental retardation syndrome that has_m..[+]
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arthrogryposis multiplex congenita |
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A nervous system disease that is characterized by ..[+]
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anauxetic dysplasia 2 |
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A spondyloepimetaphyseal dysplasia that is has_mat..[+]
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aortic valve disease 3 |
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A bicuspid aortic valve disease that is characteri..[+]
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arthrogryposis multiplex congenita-5 |
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An arthrogryposis multiplex congenita that has_mat..[+]
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