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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 intellectual disability 9,
MRD9,
OMIM:614255,
NESCAVS,
neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment,
NCI:C133742,
614255,
autosomal dominant mental retardation 9,
UMLS_CUI:C3280283,
autosomal dominant non-syndromic intellectual disability 9

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

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