Intellectual developmental disorder, X-linked, syndromic, raymond type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, raymond type;

Symbol : MRXSR;

CISMeF acronym : MRXSR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, raymond type;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the zinc finger DHHC domain-containing protein 9 gene (ZDHHC9, 300646.0001);

Prefixed ID : #300799;

Details

Origin ID

300799;

UMLS CUI

C3275406;

Automatic exact mappings (from CISMeF team)
- syndromic X-linked intellectual disability Raymond type [DO Concept]
Currated CISMeF NLP mapping
- X-linked intellectual disability, Raymond type [ORDO Disease]
DO Cross reference
- syndromic X-linked intellectual disability Raymond type [DO Concept]
Genes related to phenotype
- Zinc finger dhhc domain-containing protein 9 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Behavioral abnormality [HPO term]
- Disproportionate tall stature [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the 5th finger [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Protruding ear [HPO term]
- Strabismus [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Lujan-Fryns syndrome [ORDO Disease]
- X-linked intellectual disability, Raymond type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability, Raymond type [ORDO Disease]

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