Intellectual developmental disorder, autosomal dominant 33

Preferred Label : Intellectual developmental disorder, autosomal dominant 33;

Symbol : MRD33;

CISMeF acronym : MRD33;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 33;

Prefixed ID : #616311;

Details

Origin ID

616311;

UMLS CUI

C4225375;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 33 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 33 [DO Concept]
Genes related to phenotype
- Dipeptidyl peptidase VI [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chorioretinal degeneration [HPO term]
- Decreased body weight [HPO term]
- Delayed skeletal maturation [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Autosomal dominant primary microcephaly [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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