Mental Retardation, X-linked 21/34

Preferred Label : Mental Retardation, X-linked 21/34;

NCIt synonyms : MRX21; MRX34;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the IL1RAPL1 gene, encoding interleukin-1 receptor accessory protein-like 1. It is characterized by intellectual disability ranging from moderate mental retardation to high-functioning autism.;

NCI Metathesaurus CUI : CL1662469;

Détails

Origin ID

C179707;

UMLS CUI

C5552725;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked 21 [OMIM Phenotype]
- non-syndromic X-linked intellectual disability 21 [DO Concept]
See also inter- (CISMeF)
- atkin syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- IL1RAPL1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients