Intellectual developmental disorder, X-linked 89

Preferred Label : Intellectual developmental disorder, X-linked 89;

Symbol : XLID89;

CISMeF acronym : MRX89;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : MRX89; Mental retardation, X-linked 89;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the zinc finger protein 41 gene (ZNF41, 314995.0001);

Laboratory abnormalities : Translocation (X,7)(p11.3,q11.21) - in some patients;

Prefixed ID : %300848;

Détails

Origin ID

300848;

UMLS CUI

C1839082;

Automatic exact mappings (from CISMeF team)
- X-linked non-syndromic intellectual disability [ORDO Disease]
- non-syndromic X-linked intellectual disability 89 [DO Concept]
- zinc finger protein 41 [ORDO Gene]
- zinc finger protein 41 [HGNC gene]
Currated CISMeF NLP mapping
- mental retardation, X-Linked 89 [MeSH concept]
- mental retardation, X-Linked 89 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 89 [DO Concept]
HPO term(s)
- Delayed speech and language development [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- X-linked dominant 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 89 [MeSH Supplementary Concept]
- mental retardation, X-Linked 89 [MeSH concept]

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

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