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CAPN5 vitreoretinopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0100450

An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients. [ https://clinicalgenome.org/affiliation/40072/ ]

Synonyms: autosomal dominant neovascular inflammatory vitreoretinopathy CAPN5 vitreoretinopathy ADNIV vitreoretinopathy, neovascular inflammatory, autosomal dominant retinitis proliferans CAPN5-related vitreoretinopathy vitreoretinopathy, neovascular inflammatory VRNI

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:17497 (Orphanet:329211)
  • DOID:9719 (MONDO:equivalentTo)
  • EFO:1001129 (MONDO:mondoIsNarrowerThanSource)
  • MedDRA:10057896 (EFO:1001129)
  • UMLS:C4721549 (MONDO:equivalentTo)
  • OMIM:193235 (Orphanet:329211/e)
  • MESH:D018630 (MONDO:mondoIsNarrowerThanSource)
  • Orphanet:329211 (OMIM:193235)
  • UMLS:C0242852 (MONDO:mondoIsNarrowerThanSource)
  • SCTID:232016005 (MONDO:mondoIsNarrowerThanSource)
  • ICD9:362.29 (MONDO:relatedTo)
  • SCTID:770791000 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4259

https://github.com/monarch-initiative/mondo/issues/3898

closeMatch

http://identifiers.org/meddra/10057896

exactMatch

http://purl.obolibrary.org/obo/DOID_9719

http://www.orpha.net/ORDO/Orphanet_329211

http://identifiers.org/snomedct/770791000

https://omim.org/entry/193235

http://linkedlifedata.com/resource/umls/id/C4721549

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020248

has broad synonym

proliferative vitreoretinopathy

id

MONDO:0100450

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100450