Mental Retardation, X-linked 102

Preferred Label : Mental Retardation, X-linked 102;

NCIt definition : An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.;

Details

Origin ID

C129931;

UMLS CUI

C4085582;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked, syndromic, snijders blok type [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, snijders blok type [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
- DDX3X Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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