A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. [ https://clinicalgenome.org/affiliation/40072/ ]

Synonyms: dominant RPE65 retinopathy RPE65-related dominant retinopathy RP87

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0112144 (MONDO:equivalentTo)
Subsets

rare, nord_rare, clingen

IAO 0000233

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

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://purl.obolibrary.org/obo/DOID_0112144

has narrow synonym

retinitis pigmentosa 87 with choroidal involvement

id

MONDO:0100452

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100452