Intellectual developmental disorder, autosomal recessive 54

Preferred Label : Intellectual developmental disorder, autosomal recessive 54;

Symbol : MRT54;

CISMeF acronym : MRT54;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRT54; Mental retardation, autosomal recessive 54;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TRAF2- and NCK-interacting kinase gene (TNIK, 610005.0001);

Prefixed ID : #617028;

Details

Origin ID

617028;

UMLS CUI

C4310755;

Automatic exact mappings (from CISMeF team)
- TNIK wt Allele [NCIt concept]
Genes related to phenotype
- Traf2- and nck-interacting kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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