Intellectual developmental disorder, autosomal dominant 52

Preferred Label : Intellectual developmental disorder, autosomal dominant 52;

Symbol : MRD52;

CISMeF acronym : MRD52;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 52;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ASH1-like histone lysine methyltransferase gene (ASH1L, 607999.0001);

Prefixed ID : #617796;

Details

Origin ID

617796;

UMLS CUI

C4540478;

Currated CISMeF NLP mapping
- autosomal dominant mental retardation 52 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 52 [DO Concept]
Genes related to phenotype
- Ash1-like histone lysine methyltransferase [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Absent speech [HPO term]
- Anxiety [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Infantile onset [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]

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