Intellectual developmental disorder, autosomal recessive 6

Preferred Label : Intellectual developmental disorder, autosomal recessive 6;

Symbol : MRT6;

CISMeF acronym : MRT6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 6;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamate receptor, ionotropic, kainate 2 gene (GRIK2, 138244.0001);

Prefixed ID : #611092;

Details

Origin ID

611092;

UMLS CUI

C1970198;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- glutamate ionotropic receptor kainate type subunit 2 [ORDO Gene]
- glutamate ionotropic receptor kainate type subunit 2 [HGNC gene]
Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 6 [MeSH concept]
- mental retardation, autosomal recessive 6 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Glutamate receptor, ionotropic, kainate 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Involuntary movements [HPO term]
- Myoclonus [HPO term]
- Seizure [HPO term]
- Tremor [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 6 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 6 [MeSH concept]

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