Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615922 http://purl.bioontology.org/ontology/OMIM/615922
Preferred Name	RETINITIS PIGMENTOSA 70
Synonyms	RP70
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP70
prefLabel	RETINITIS PIGMENTOSA 70
Gene Symbol	PRP4 RP70 HPRP4 PRPF4
Scope Statement	Onset in the second or third decade of life [MISCELLANEOUS] Caused by mutation in the pre-mRNA processing factor 4 gene (PRPF4, 607795.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU047328 http://purl.bioontology.org/ontology/OMIM/MTHU035289 http://purl.bioontology.org/ontology/OMIM/MTHU047327 http://purl.bioontology.org/ontology/OMIM/MTHU047323 http://purl.bioontology.org/ontology/OMIM/MTHU047329 http://purl.bioontology.org/ontology/OMIM/MTHU047326 http://purl.bioontology.org/ontology/OMIM/MTHU047324 http://purl.bioontology.org/ontology/OMIM/MTHU047325 See more See less
tui	T047
Gene Locus	9q31-q33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615922
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4014681
OMIM Entry Type	3
OMIM MimType Value	pound

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