Exudative vitreoretinopathy 5

Preferred Label : Exudative vitreoretinopathy 5;

Symbol : EVR5;

CISMeF acronym : EVR5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tetraspanin-12 gene (TSPAN12, 613138.0001);

Prefixed ID : #613310;

Détails

Origin ID

613310;

UMLS CUI

C2750079;

Currated CISMeF NLP mapping
- exudative vitreoretinopathy 5 [DO Concept]
- exudative vitreoretinopathy 5 [MeSH concept]
- exudative vitreoretinopathy 5 [MeSH Supplementary Concept]
DO Cross reference
- exudative vitreoretinopathy 5 [DO Concept]
Genes related to phenotype
- Tetraspanin 12 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Exudative vitreoretinopathy [HPO term]
- Reduced visual acuity [HPO term]
- Retinal exudate [HPO term]
- Shallow anterior chamber [HPO term]
- Tractional retinal detachment [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- exudative vitreoretinopathy 5 [MeSH Supplementary Concept]
- exudative vitreoretinopathy 5 [MeSH concept]
Validated automatic mappings to NTBT
- Familial exudative vitreoretinopathy [ORDO Disease]

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

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