Intellectual developmental disorder, X-linked 97

Preferred Label : Intellectual developmental disorder, X-linked 97;

Symbol : XLID97;

CISMeF acronym : MRXZ; MRX65; MRX97;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX65; Mental retardation, X-linked 65; MRXZ; MRX97; Mental retardation, X-linked 97;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the zinc finger protein 711 gene (ZNF711, 314990.0001);

Prefixed ID : #300803;

Détails

Origin ID

300803;

UMLS CUI

C2749020;

Automatic exact mappings (from CISMeF team)
- X-linked non-syndromic intellectual disability [ORDO Disease]
- mental retardation, X-Linked, Znf711-Related [MeSH Supplementary Concept]
- non-syndromic X-linked intellectual disability 97 [DO Concept]
- zinc finger protein 711 [ORDO Gene]
- zinc finger protein 711 [HGNC gene]
DO Cross reference
- non-syndromic X-linked intellectual disability 97 [DO Concept]
Genes related to phenotype
- Zinc finger protein 711 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Broad face [HPO term]
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, moderate [HPO term]
- Long face [HPO term]
- Macrotia [HPO term]
- Motor delay [HPO term]
- Obesity [HPO term]
- Prominent forehead [HPO term]
- Synophrys [HPO term]
- X-linked 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, Znf711-Related [MeSH Supplementary Concept]
- mental retardation, X-Linked, Znf711-Related [MeSH concept]

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

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