Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618697 http://purl.bioontology.org/ontology/OMIM/618697
Preferred Name	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT
Synonyms	RP87
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP87
prefLabel	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT
Gene Symbol	RP20 LCA2 RPE65
Scope Statement	Onset of symptoms from second to fifth decade of life [MISCELLANEOUS] Variable presentation [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the retinoid isomerohydrolase RPE65 gene (RPE65, 180069.0013) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU070797 http://purl.bioontology.org/ontology/OMIM/MTHU066725 http://purl.bioontology.org/ontology/OMIM/MTHU066726 http://purl.bioontology.org/ontology/OMIM/MTHU070794 http://purl.bioontology.org/ontology/OMIM/MTHU029961 http://purl.bioontology.org/ontology/OMIM/MTHU068215 http://purl.bioontology.org/ontology/OMIM/MTHU066731 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU070796 http://purl.bioontology.org/ontology/OMIM/MTHU066730 http://purl.bioontology.org/ontology/OMIM/MTHU066721 http://purl.bioontology.org/ontology/OMIM/MTHU066729 See more See less
tui	T047
Gene Locus	1p31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618697
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5231465
OMIM Entry Type	3
OMIM MimType Value	pound

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