Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	RETINITIS PIGMENTOSA 41
Synonyms	RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED
ID	http://purl.bioontology.org/ontology/OMIM/612095
altLabel	RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED RP41
cui	C2677516
Gene Locus	4p15.3
Gene Symbol	MCDR2 RP41 PROML1 PROM1 AC133 STGD4 CORD12 CD133
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU021475 http://purl.bioontology.org/ontology/OMIM/MTHU003281 http://purl.bioontology.org/ontology/OMIM/MTHU030120 http://purl.bioontology.org/ontology/OMIM/MTHU021474 http://purl.bioontology.org/ontology/OMIM/MTHU021476
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612095
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	RETINITIS PIGMENTOSA 41
tui	T047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110376	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/C567422	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C567422	Medical Subject Headings	LOOM