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DO Term : ataxia with oculomotor apraxia type 3 [DOID:0060557] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.
  • synonyms:
  • 615217,
  • OMIM:615217,
  • ataxia-oculomotor apraxia 3
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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