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DO Term : cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 [DOID:0070557] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3.
  • synonyms:
  • CAMRQ syndrome 2,
  • cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2,
  • cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2,
  • 610185,
  • CAMRQ2,
  • cerebellar ataxia, mental retardation, and disequilibrium syndrome 2,
  • OMIM:610185,
  • UMLS_CUI:C2750234,
  • MESH:C567656
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Disease

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Ontology

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Ontology Term --> Direct parents