A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. [ https://clinicalgenome.org/affiliation/40072/ ]
Synonyms: dominant RPE65 retinopathy RP87
This is just here as a test because I lose it
Term information
database
cross reference
- DOID:0112144 (MONDO:equivalentTo)
Subsets
gard_rare, rare, nord_rare, clingen