Intellectual developmental disorder, autosomal recessive 1

Preferred Label : Intellectual developmental disorder, autosomal recessive 1;

Symbol : MRT1;

CISMeF acronym : MRT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 1;

Inheritance : Autosomal recessive;

Prefixed ID : #249500;

Détails

Origin ID

249500;

UMLS CUI

C1855304;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- serine protease 12 [ORDO Gene]
- serine protease 12 [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 1 [MeSH concept]
- mental retardation, autosomal recessive 1 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Protease, serine, 12 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Hyperactive deep tendon reflexes [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Strabismus [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 1 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 1 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients