Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613582 http://purl.bioontology.org/ontology/OMIM/613582
Preferred Name	RETINITIS PIGMENTOSA 57
Synonyms	RP57
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP57
prefLabel	RETINITIS PIGMENTOSA 57
Gene Symbol	RP57 PDE6G PDEG
Scope Statement	Caused by mutation in the phosphodiesterase 6G gene (PDE6G, 180073.0001) [MOLECULAR BASIS] Electroretinogram reduction as early as 4 years of age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU034383 http://purl.bioontology.org/ontology/OMIM/MTHU058835 http://purl.bioontology.org/ontology/OMIM/MTHU034381 http://purl.bioontology.org/ontology/OMIM/MTHU034387 http://purl.bioontology.org/ontology/OMIM/MTHU026372 http://purl.bioontology.org/ontology/OMIM/MTHU034385 http://purl.bioontology.org/ontology/OMIM/MTHU030342 http://purl.bioontology.org/ontology/OMIM/MTHU034382 See more See less
tui	T047
Gene Locus	17q25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613582
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3150821
OMIM Entry Type	3
OMIM MimType Value	pound

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