Intellectual developmental disorder, autosomal recessive 12

Preferred Label : Intellectual developmental disorder, autosomal recessive 12;

Symbol : MRT12;

CISMeF acronym : MRT12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene (ST3GAL3, 606494.0001);

Prefixed ID : #611090;

Details

Origin ID

611090;

UMLS CUI

C1970200;

Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 12 [MeSH concept]
- mental retardation, autosomal recessive 12 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- St3 beta-galactoside alpha-2,3-sialyltransferase 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 12 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 12 [MeSH concept]

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