Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613983 http://purl.bioontology.org/ontology/OMIM/613983
Preferred Name	RETINITIS PIGMENTOSA 60
Synonyms	RP60
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP60
prefLabel	RETINITIS PIGMENTOSA 60
Gene Symbol	PRPF6 C20orf14 PRP6 ANT1 TOM
Scope Statement	Caused by mutation in the pre-mRNA processing factor 6 gene (PRPF6, 613979.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU034843 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU034847 http://purl.bioontology.org/ontology/OMIM/MTHU034844 http://purl.bioontology.org/ontology/OMIM/MTHU034846 http://purl.bioontology.org/ontology/OMIM/MTHU034845 http://purl.bioontology.org/ontology/OMIM/MTHU034848 See more See less
tui	T047
Gene Locus	20q13.33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613983
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3151434
OMIM Entry Type	3
OMIM MimType Value	pound

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