Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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arteriovenous malformations of the brain |
cerebral arteriovenous malformation; intracranial ..
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An arteriovenous malformation that is located_in t..[+]
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atrichia with papular lesions |
APL; papular atrichia
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An alopecia characterized by irreversible hair los..[+]
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autosomal dominant auditory neuropathy 1 |
AUNA1; nonsyndromic dominant auditory neuropathy; ..
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An autosomal dominant nonsyndromic deafness charac..[+]
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autosomal recessive congenital ichthyosis 2 |
ARCI2; BROCQ congenital ichthyosiform erythroderma..
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 3 |
ARCI3; lamellar ichthyosis 5
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 4A |
ARCI4A; ichthyosis congenita IIB; ICR2B; lamellar ..
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 4B |
ARCI4B; harlequin ichthyosis; harlequin type ichth..
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 5 |
autosomal recessive congenital nonlamellar and non..
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 6 |
ARCI6
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 7 |
ARCI7
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 8 |
ARCI8; lamellar ichthyosis 4; late-onset lamellar ..
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 9 |
ARCI9
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 10 |
ARCI10
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive congenital ichthyosis 11 |
autosomal recessive ichthyosis with hypotrichosis; ..
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An autosomal recessive congenital ichthyosis chara..[+]
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autosomal recessive Robinow syndrome |
costovertebral segmentation defect-mesomelia syndr..
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A Robinow syndrome characterized by autosomal rece..[+]
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autosomal dominant Robinow syndrome 2 |
DRS2
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A Robinow syndrome characterized by autosomal domi..[+]
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autosomal dominant Robinow syndrome 1 |
DRS1
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A Robinow syndrome characterized by autosomal domi..[+]
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autosomal dominant Robinow syndrome 3 |
DRS3
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A Robinow syndrome characterized by autosomal domi..[+]
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adult-onset autosomal dominant demyelinating leukodystrophy |
autosomal-dominant or late-onset type Pelizaeus-Me..
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A leukodystrophy characterized by onset in the 4th..[+]
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annular pancreas |
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A pancreas disease characterized by autosomal domi..[+]
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autosomal recessive pseudohypoaldosteronism type 1 |
autosomal recessive PHA 1; PHA1B
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A pseudohypoaldosteronism characterized by enal sa..[+]
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autosomal dominant pseudohypoaldosteronism type 1 |
autosomal dominant PHA 1; PHA1A
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A pseudohypoaldosteronism characterized by Salt wa..[+]
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autosomal dominant keratitis-ichthyosis-deafness syndrome |
autosomal dominant KID syndrome
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A syndrome characterized by congenital deafness, k..[+]
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autosomal dominant Parkinson disease 4 |
autosomal dominant Lewy body Parkinson disease 4
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A late onset Parkinson disease that has_material_b..[+]
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autosomal recessive early-onset Parksinson disease 23 |
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An early-onset Parkinson disease that has_material..[+]
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autosomal recessive Parkinson disease 14 |
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A late-onset Parkinson disease that has_material_b..[+]
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autosomal dominant dyskeratosis congenita 1 |
DKCA1; Dyskeratosis Congenita, Scoggins Type
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 1 |
DKCB1
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal dominant dyskeratosis congenita 2 |
DKCA2
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 2 |
DKCB2
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal dominant dyskeratosis congenita 3 |
DKCA3
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 3 |
DKCB3
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal dominant dyskeratosis congenita 4 |
DKCA4
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 4 |
DKCB4
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 5 |
DKCB5
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal dominant dyskeratosis congenita 6 |
DKCA6
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A dyskeratosis congenita that has_material_basis_i..[+]
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autosomal recessive dyskeratosis congenita 6 |
DKCB6
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A dyskeratosis congenita that has_material_basis_i..[+]
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APP-related cerebral amyloid angiopathy |
Amyloidosis, Hereditary, With Cerebral Hemorrhage,..
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A cerebral amyloid angiopathy that has_material_ba..[+]
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autosomal dominant non-syndromic intellectual disability 1 |
autosomal dominant mental retardation 1; MRD1
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant intellectual developmental disorder 2 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant non-syndromic intellectual disability 3 |
autosomal dominant mental retardation 3; MRD3
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 4 |
autosomal dominant mental retardation 4; MRD4
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant intellectual developmental disorder 5 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant non-syndromic intellectual disability 6 |
autosomal dominant mental retardation 6; MRD6
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant intellectual developmental disorder 7 |
autosomal dominant non-syndromic intellectual disa..
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An autosomal dominant intellectual developmental d..[+]
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autosomal dominant non-syndromic intellectual disability 8 |
autosomal dominant mental retardation 8; MRD8
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 9 |
autosomal dominant mental retardation 9; MRD9
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 10 |
autosomal dominant mental retardation 10; MRD10
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 11 |
autosomal dominant mental retardation 11; MRD11
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An autosomal dominant non-syndromic intellectual d..[+]
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autosomal dominant non-syndromic intellectual disability 13 |
autosomal dominant mental retardation 13; mental r..
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An autosomal dominant non-syndromic intellectual d..[+]
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