Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620228 http://purl.bioontology.org/ontology/OMIM/620228
Preferred Name	RETINITIS PIGMENTOSA 96
Synonyms	RP96
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP96
prefLabel	RETINITIS PIGMENTOSA 96
Gene Symbol	RP47 RP96 SAG
Scope Statement	Predominant inferonasal sectoral involvement early in disease (in 1 family) [MISCELLANEOUS] Caused by mutation in the S-antigen gene (SAG, 181031.0007) [MOLECULAR BASIS] No golden sheen of fundus observed (as seen with biallelic SAG mutations) [MISCELLANEOUS] Visual acuity well-preserved into the seventh decade in most patients [MISCELLANEOUS] Onset of symptoms ranges from third to sixth decade of life [MISCELLANEOUS] All dominant RP cases carry the same mutation (C147F, 181031.0007) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU075882 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU075879 http://purl.bioontology.org/ontology/OMIM/MTHU030431 http://purl.bioontology.org/ontology/OMIM/MTHU026372 http://purl.bioontology.org/ontology/OMIM/MTHU075881 http://purl.bioontology.org/ontology/OMIM/MTHU075878 http://purl.bioontology.org/ontology/OMIM/MTHU030342 See more See less
tui	T047
Gene Locus	2q37.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620228
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5774303
OMIM Entry Type	3
OMIM MimType Value	pound

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