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loading...| Preferred Name |
Exudative Vitreoretinopathy 1 |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C175048 |
| code |
C175048 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| 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. |
| FULL_SYN |
EVR1 Exudative Vitreoretinopathy 1 |
| label |
Exudative Vitreoretinopathy 1 |
| Preferred_Name |
Exudative Vitreoretinopathy 1 |
| prefixIRI |
Thesaurus:C175048 |
| prefLabel |
Exudative Vitreoretinopathy 1 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1851402 |
| subClassOf |
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