Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620422 http://purl.bioontology.org/ontology/OMIM/620422
Preferred Name	RETINITIS PIGMENTOSA 97
Synonyms	RP97
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP97
prefLabel	RETINITIS PIGMENTOSA 97
Gene Symbol	RP97 VWA8 KIAA0564
Scope Statement	Caused by mutation in the von Willebrand factor A domain-containing protein-8 gene (VWA8, 617509.0002) [MOLECULAR BASIS] Based on report of a large 4-generation Chinese family (last curated June 2023) [MISCELLANEOUS] Onset in the first decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU074842 http://purl.bioontology.org/ontology/OMIM/MTHU077269 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU077270 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU077268 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU077265 http://purl.bioontology.org/ontology/OMIM/MTHU077266 http://purl.bioontology.org/ontology/OMIM/MTHU077271 http://purl.bioontology.org/ontology/OMIM/MTHU077267 http://purl.bioontology.org/ontology/OMIM/MTHU037111 See more See less
tui	T047
Gene Locus	13q14.11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620422
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5830579
OMIM Entry Type	3
OMIM MimType Value	pound

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