Intellectual developmental disorder, autosomal dominant 41

Preferred Label : Intellectual developmental disorder, autosomal dominant 41;

Symbol : MRD41;

CISMeF acronym : MRD41;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 41;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transducin-beta-like 1 receptor 1 gene (TBL1XR1, 608628.0001);

Prefixed ID : #616944;

Details

Origin ID

616944;

UMLS CUI

C4310784;

Automatic exact mappings (from CISMeF team)
- TBL1XR1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 41 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 41 [DO Concept]
Genes related to phenotype
- Transducin-beta-like 1 receptor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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