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DO Term : autosomal recessive spinocerebellar ataxia 28 [DOID:0070409] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33.
  • synonyms:
  • OMIM:618800,
  • 618800,
  • SCAR28
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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