Mental Retardation, Autosomal Dominant 9

Preferred Label : Mental Retardation, Autosomal Dominant 9;

NCIt synonyms : MRD9; NESCAV Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.;

Details

Origin ID

C133742;

UMLS CUI

C5393830;

Currated CISMeF NLP mapping
- NESCAV syndrome [DO Concept]
- Nescav syndrome [OMIM Phenotype]
DO Cross reference
- NESCAV syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NESCAV syndrome [DO Concept]
- Nescav syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- KIF1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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