Intellectual developmental disorder, X-linked 45

Preferred Label : Intellectual developmental disorder, X-linked 45;

Symbol : XLID45;

CISMeF acronym : MRX45;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : MRX45; Mental retardation, X-linked 45;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the zinc finger protein 81 gene (ZNF81, 314998.0001);

Prefixed ID : %300498;

Détails

Origin ID

300498;

UMLS CUI

C1845333;

Currated CISMeF NLP mapping
- mental retardation, X-Linked 45 [MeSH concept]
- mental retardation, X-Linked 45 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 45 [DO Concept]
HPO term(s)
- High palate [HPO term]
- Intellectual disability [HPO term]
- Macrotia [HPO term]
- Prominent nasal bridge [HPO term]
- Protruding ear [HPO term]
- Short stature [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 45 [MeSH Supplementary Concept]
- mental retardation, X-Linked 45 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients