Intellectual developmental disorder, autosomal dominant 2

Preferred Label : Intellectual developmental disorder, autosomal dominant 2;

Symbol : MRD2;

CISMeF acronym : MRD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by deletion or disruption of 9p24 including the DOCK8 gene (611432);

Laboratory abnormalities : Balanced translocation t(X,9)(q13.1,p24) in one patient;

Prefixed ID : #614113;

Details

Origin ID

614113;

UMLS CUI

C3279842;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 2 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 2 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
See also inter- (CISMeF)
- DOCK8 wt Allele [NCIt concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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