Mental Retardation, X-linked 1

Preferred Label : Mental Retardation, X-linked 1;

NCIt synonyms : MRX1; Nonsyndromic X-Linked Cognitive Disability;

NCIt definition : An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.;

Details

Origin ID

C133729;

UMLS CUI

C2931498;

Automatic exact mappings (from CISMeF team)
- non-syndromic X-linked intellectual disability 1 [DO Concept]
Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked 1 [OMIM Phenotype]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- mental retardation, X-Linked 1 [MeSH concept]
- mental retardation, X-Linked 1 [MeSH Supplementary Concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked 1 [OMIM Phenotype]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- mental retardation, X-Linked 1 [MeSH Supplementary Concept]
- mental retardation, X-Linked 1 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IQSEC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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