Intellectual developmental disorder, autosomal recessive 13

Preferred Label : Intellectual developmental disorder, autosomal recessive 13;

Symbol : MRT13;

CISMeF acronym : MRT13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 13;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the trafficking protein particle complex, subunit 9 gene (TRAPPC9, 611966.0001);

Prefixed ID : #613192;

Détails

Origin ID

613192;

UMLS CUI

C2750791;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- trafficking protein particle complex subunit 9 [ORDO Gene]
- trafficking protein particle complex subunit 9 [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 13 [MeSH concept]
- mental retardation, autosomal recessive 13 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Trafficking protein particle complex, subunit 9 [OMIM gene]
HPO term(s)
- Abnormal cerebellar vermis morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft upper lip [HPO term]
- Delayed ability to walk [HPO term]
- Downturned corners of mouth [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Smooth philtrum [HPO term]
- Synophrys [HPO term]
- Truncal obesity [HPO term]
- Wide nasal bridge [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 13 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 13 [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients