Intellectual developmental disorder, X-linked 46

Preferred Label : Intellectual developmental disorder, X-linked 46;

Symbol : XLID46;

CISMeF acronym : MRX46;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, X-linked 46; MRX46;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Rho guanine nucleotide exchange factor-6 gene (300267.0001);

Prefixed ID : %300436;

Détails

Origin ID

300436;

UMLS CUI

C1845526;

Currated CISMeF NLP mapping
- mental retardation, X-Linked 46 [MeSH concept]
- mental retardation, X-Linked 46 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 46 [DO Concept]
HPO term(s)
- Intellectual disability [HPO term]
- Sensorineural hearing impairment [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 46 [MeSH Supplementary Concept]
- mental retardation, X-Linked 46 [MeSH concept]

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

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