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DO Term : nonprogressive cerebellar ataxia with mental retardation [DOID:0050998] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.
  • synonyms:
  • OMIM:614756,
  • 614756
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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