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DO Term : X-linked spinocerebellar ataxia 1 [DOID:0111829] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.
  • synonyms:
  • SCAX1,
  • OMIM:302500,
  • X-linked progressive cerebellar ataxia,
  • 302500,
  • ORDO:1175
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents