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DO Term : NESCAV syndrome [DOID:0070039] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
  • synonyms:
  • autosomal dominant mental retardation 9,
  • UMLS_CUI:C3280283,
  • OMIM:614255,
  • neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment,
  • NESCAVS,
  • autosomal dominant intellectual disability 9,
  • autosomal dominant non-syndromic intellectual disability 9,
  • MRD9,
  • NCI:C133742,
  • 614255
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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