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DO Term : autosomal recessive spinocerebellar ataxia 3 [DOID:0111612] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.

synonyms:
SNOMEDCT_US_2023_03_01:1204415006,
OMIM:271250,
UMLS_CUI:C1849094,
GARD:9971,
autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,
autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome,
autosomal recessive spinocerebellar ataxia type 3,
ORDO:95433,
SCABD,
MESH:C537309,
SCAR3,
271250

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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