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

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

Symbol : MRXSG;

CISMeF acronym : GUST;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GUST; Gustavson syndrome; Mental retardation with optic atrophy, deafness, and seizures; Intellectual developmental disorder with optic atrophy, deafness, and seizures;

Inheritance : X-linked (Xq26);

Prefixed ID : #309555;

Détails

Origin ID

309555;

UMLS CUI

C0795965;

Automatic exact mappings (from CISMeF team)
- Finding of sense of taste (finding) [SNOMED CT concept]
- X-linked mental retardation Gustavson type [MeSH concept]
- taste [MeSH Descriptor]
- tasting [SNOMED Notion]
Currated CISMeF NLP mapping
- Severe X-linked intellectual disability, Gustavson type [ORDO Disease]
- X-linked mental retardation gustavson type [MeSH Supplementary Concept]
Genes related to phenotype
- Rna-binding motif protein, X chromosome [OMIM gene]
HPO term(s)
- Bilateral sensorineural deafness [HPO term]
- Blindness [HPO term]
- Death in childhood [HPO term]
- Early death [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Restricted large joint movement [HPO term]
- Seizure [HPO term]
- Severely reduced visual acuity [HPO term]
- Spasticity [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Severe X-linked intellectual disability, Gustavson type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe X-linked intellectual disability, Gustavson type [ORDO Disease]
- X-linked mental retardation Gustavson type [MeSH concept]
- X-linked mental retardation gustavson type [MeSH Supplementary Concept]

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

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