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DO Term : ataxia-oculomotor apraxia type 4 [DOID:0081383] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
  • synonyms:
  • ORDO:459033,
  • GARD:13111,
  • OMIM:616267,
  • 616267
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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