Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/180100 http://purl.bioontology.org/ontology/OMIM/180100
Preferred Name	RETINITIS PIGMENTOSA 1
Synonyms	RP1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP1
prefLabel	RETINITIS PIGMENTOSA 1
Gene Symbol	ORP1 RP1
Scope Statement	Dominant inheritance form(s) in 3 to 4% of cases [MISCELLANEOUS] Genetic heterogeneity (see 268000) [MISCELLANEOUS] Caused by mutation in the oxygen-regulated photoreceptor protein-1 gene (ORP1, 603937.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU053535 http://purl.bioontology.org/ontology/OMIM/MTHU053539 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU053540 http://purl.bioontology.org/ontology/OMIM/MTHU007829 See more See less
tui	T047
Gene Locus	8q11-q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	180100
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0220701
OMIM Entry Type	3
OMIM MimType Value	pound

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