Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	BOTHNIA RETINAL DYSTROPHY
Synonyms	VASTERBOTTEN DYSTROPHY
ID	http://purl.bioontology.org/ontology/OMIM/607475
altLabel	VASTERBOTTEN DYSTROPHY
cui	C1843816
Gene Locus	15q26
Gene Symbol	RLBP1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU003285 http://purl.bioontology.org/ontology/OMIM/MTHU003281 http://purl.bioontology.org/ontology/OMIM/MTHU029623 http://purl.bioontology.org/ontology/OMIM/MTHU029622 http://purl.bioontology.org/ontology/OMIM/MTHU003280 http://purl.bioontology.org/ontology/OMIM/MTHU003282 http://purl.bioontology.org/ontology/OMIM/MTHU003284
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607475
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	BOTHNIA RETINAL DYSTROPHY
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564392	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C564392	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0050683	Human Disease Ontology 123	LOOM