Intellectual developmental disorder, autosomal recessive 2

Preferred Label : Intellectual developmental disorder, autosomal recessive 2;

Symbol : MRT2;

CISMeF acronym : MRT2A; MRT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRT2A; Mental retardation, autosomal recessive 2a; Mental retardation, autosomal recessive 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cereblon gene (CRBN, 609262.0001);

Prefixed ID : #607417;

Details

Origin ID

607417;

UMLS CUI

C1843942;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- CRBN wt Allele [NCIt concept]
- cereblon [ORDO Gene]
- cereblon [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 2 [MeSH concept]
- mental retardation, autosomal recessive 2 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Cereblon [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, severe [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, autosomal recessive 2 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 2 [MeSH concept]

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