Intellectual developmental disorder, autosomal recessive 7

Preferred Label : Intellectual developmental disorder, autosomal recessive 7;

Symbol : MRT7;

CISMeF acronym : MRT22; MRT7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRT22; Mental retardation, autosomal recessive 22; Intellectual developmental disorder 22; Mental retardation, autosomal recessive 7; MRT7;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tumor suppressor candidate-3 gene (TUSC3, 601385.0001);

Prefixed ID : #611093;

Details

Origin ID

611093;

UMLS CUI

C1970197;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- TUSC3 wt Allele [NCIt concept]
- tumor suppressor candidate 3 [ORDO Gene]
- tumor suppressor candidate 3 [HGNC gene]
Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 7 [MeSH concept]
- mental retardation, autosomal recessive 7 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Tumor suppressor candidate 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [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 7 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 7 [MeSH concept]

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