Exudative Vitreoretinopathy 1

Preferred Label : Exudative Vitreoretinopathy 1;

NCIt synonyms : EVR1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity.;

Details

Origin ID

C175048;

UMLS CUI

C1851402;

Currated CISMeF NLP mapping
- Exudative vitreoretinopathy 1 [OMIM Phenotype]
- Exudative vitreoretinopathy 1 [MeSH concept]
- Familial exudative vitreoretinopathy [ORDO Disease]
- exudative vitreoretinopathy 1 [MeSH Supplementary Concept]
- exudative vitreoretinopathy 1 [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Exudative vitreoretinopathy 1 [OMIM Phenotype]
- Exudative vitreoretinopathy 1 [MeSH concept]
- exudative vitreoretinopathy 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Familial Exudative Vitreoretinopathies [MeSH concept]
- Familial Exudative Vitreoretinopathies [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- FZD4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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