Intellectual developmental disorder, autosomal dominant 4

Preferred Label : Intellectual developmental disorder, autosomal dominant 4;

Symbol : MRD4;

CISMeF acronym : MRD4;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, autosomal dominant 4;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Balanced translocation t(11,16)(q24.2,q24);

Prefixed ID : %612581;

Details

Origin ID

612581;

UMLS CUI

C2675487;

Broader ORDO disease(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 4 [DO Concept]
- mental retardation, autosomal dominant 4 [MeSH concept]
- mental retardation, autosomal dominant 4 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 4 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Exotropia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Midface retrusion [HPO term]
- Short chin [HPO term]
- Short toe [HPO term]
- Syndactyly [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 4 [MeSH Supplementary Concept]
- mental retardation, autosomal dominant 4 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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