Exudative vitreoretinopathy 7

Preferred Label : Exudative vitreoretinopathy 7;

Symbol : EVR7;

CISMeF acronym : EVR7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-1 catenin gene (CTNNB1, 116806.0024);

Prefixed ID : #617572;

Details

Origin ID

617572;

UMLS CUI

C4539767;

Currated CISMeF NLP mapping
- exudative vitreoretinopathy 7 [DO Concept]
DO Cross reference
- exudative vitreoretinopathy 7 [DO Concept]
Genes related to phenotype
- Catenin, beta-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Nystagmus [HPO term]
- Retinal degeneration [HPO term]
- Retinal hole [HPO term]
- Vitreoretinopathy [HPO term]
ORDO concept(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
See also inter- (CISMeF)
- CTNNB1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Familial exudative vitreoretinopathy [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients