Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/601718 http://purl.bioontology.org/ontology/OMIM/601718
Preferred Name	RETINITIS PIGMENTOSA 19
Synonyms	RP19
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP19
prefLabel	RETINITIS PIGMENTOSA 19
Gene Symbol	ARMD2 ABCA4 RP19 STGD1 ABCR CORD3 FFM See more See less
Scope Statement	Onset of symptoms in the first decade of life [MISCELLANEOUS] Progression of symptoms with age [MISCELLANEOUS] Caused by mutation in the ATP-binding cassette, subfamily A, member 4 gene (ABCA4, 601691.0008) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU057168 http://purl.bioontology.org/ontology/OMIM/MTHU057167 http://purl.bioontology.org/ontology/OMIM/MTHU034743 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU057165 http://purl.bioontology.org/ontology/OMIM/MTHU030431 http://purl.bioontology.org/ontology/OMIM/MTHU057169 http://purl.bioontology.org/ontology/OMIM/MTHU057166 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU030342 See more See less
tui	T047
Gene Locus	1p22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601718
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1866422
OMIM Entry Type	3
OMIM MimType Value	pound

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