Intellectual developmental disorder, autosomal dominant 3

Preferred Label : Intellectual developmental disorder, autosomal dominant 3;

Symbol : MRD3;

CISMeF acronym : MRD3;

Type : Phenotype, molecular basis known;

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

Prefixed ID : #612580;

Détails

Origin ID

612580;

UMLS CUI

C2675488;

Broader ORDO disease(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 3 [DO Concept]
- mental retardation, autosomal dominant 3 [MeSH concept]
- mental retardation, autosomal dominant 3 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 3 [DO Concept]
Genes related to phenotype
- Cadherin 15 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, autosomal dominant 3 [MeSH Supplementary Concept]
- mental retardation, autosomal dominant 3 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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

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