Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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autosomal recessive spinocerebellar ataxia 25 |
SCAR25
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal recessive spinocerebellar ataxia 26 |
SCAR26
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An autosomal recessive cerebellar ataxia that has_..[+]
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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 73 |
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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 chara..[+]
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atypical hemolytic-uremic syndrome |
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A complement deficiency that is characterized by m..[+]
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aortic valve disease 2 |
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A bicuspid aortic valve disease that has_material_..[+]
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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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ankylosing spondylitis 2 |
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A ankylosing spondylitis that has_material_basis_i..[+]
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ankylosing spondylitis 3 |
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A ankylosing spondylitis that has_material_basis_i..[+]
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anterior segment dysgenesis 1 |
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An anterior segment dysgenesis that has_material_b..[+]
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anterior segment dysgenesis 2 |
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An anterior segment dysgenesis that has_material_b..[+]
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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 4 |
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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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anterior segment dysgenesis 6 |
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An anterior segment dysgenesis that has_material_b..[+]
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anterior segment dysgenesis 7 |
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An anterior segment dysgenesis that has_material_b..[+]
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anterior segment dysgenesis 8 |
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An anterior segment dysgenesis that has_material_b..[+]
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auditory system benign neoplasm |
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A sensory system benign neoplasm that is located i..[+]
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alopecia-mental retardation syndrome |
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A syndrome that is characterized by loss of hair o..[+]
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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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alopecia-mental retardation syndrome 2 |
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An alopecia-mental retardation syndrome that has_m..[+]
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atrial standstill 1 |
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A heart conduction disease that is characterized b..[+]
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atrial standstill 2 |
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A heart conduction disease that is characterized b..[+]
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autosomal dominant familial visceral neuropathy |
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An intestinal pseudo-obstruction that is inherited..[+]
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aortic dissection |
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An aortic disease that is characterized by tearing..[+]
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autosomal dominant congenital deafness with onychodystrophy |
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A syndrome that is characterized by autosomal domi..[+]
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autoimmune cholangitis |
autoimmune cholangiopathy
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An autoimmune hepatitis that is characterized by p..[+]
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antisynthetase syndrome |
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An autoimmune disease that is characterized by myo..[+]
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atrophoderma vermiculata |
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A keratosis pilaris atrophicans that typically pre..[+]
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autosomal recessive limb-girdle muscular dystrophy type 2Z |
limb-girdle muscular dystrophy 21
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An autosomal recessive limb-girdle muscular dystro..[+]
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autosomal recessive intellectual developmental disorder-72 |
autosomal recessive mental retardation 72
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A syndromic intellectual disability that has_mater..[+]
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autoimmune myocarditis |
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An autoimmune disease of cardiovascular system tha..[+]
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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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acute erythroid leukemia |
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An acute myeloid leukemia that is characterized by..[+]
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acute basophilic leukemia |
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An acute myeloid leukemia that is characterized by..[+]
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autosomal dominant craniometaphyseal dysplasia |
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A craniometaphyseal dysplasia that has_material_ba..[+]
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aspirin-induced respiratory disease |
aspirin-sensitive asthma
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An intrinsic asthma that is characterized by sever..[+]
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acquired laryngomalacia |
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A laryngeal disease that is characterized by acqui..[+]
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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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apolipoprotein A-IV associated amyloidosis |
AApoAIV amyloidosis; renal AApoAIV amyloidosis
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An amyloidosis that is characterized by slowly pro..[+]
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acquired angioedema |
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An angioedema that is characterized by an acquired..[+]
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anauxetic dysplasia |
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A spondyloepimetaphyseal dysplasia that is charact..[+]
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abdominal obesity-metabolic syndrome 4 |
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An abdominal obesity-metabolic syndrome that is ch..[+]
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acute flaccid myelitis |
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A myelitis that is characterized by acute onset of..[+]
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