Intellectual developmental disorder, autosomal recessive 3

Preferred Label : Intellectual developmental disorder, autosomal recessive 3;

Symbol : MRT3;

CISMeF acronym : MRT3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coiled-coil and C2 domain-containing 1A gene (CC2D1A, 610055.0001);

Prefixed ID : #608443;

Détails

Origin ID

608443;

UMLS CUI

C1838023;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- coiled-coil and C2 domain containing 1A [ORDO Gene]
- coiled-coil and C2 domain containing 1A [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- mental retardation, autosomal recessive 3 [MeSH concept]
- mental retardation, autosomal recessive 3 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive non-syndromic intellectual disability [DO Concept]
Genes related to phenotype
- Coiled-coil and c2 domains-containing protein 1a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Dull facial expression [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypomimic face [HPO term]
- Incomprehensible speech [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Juvenile onset [HPO term]
- Progressive microcephaly [HPO term]
- Short attention span [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 3 [MeSH Supplementary Concept]
- mental retardation, autosomal recessive 3 [MeSH concept]

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