Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	MACULAR DYSTROPHY, RETINAL, 2
Synonyms	MCDR2
ID	http://purl.bioontology.org/ontology/OMIM/608051
altLabel	MCDR2
cui	C0339512
Gene Locus	4p15.3
Gene Symbol	MCDR2 RP41 PROML1 PROM1 AC133 STGD4 CORD12 CD133
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002533 http://purl.bioontology.org/ontology/OMIM/MTHU002529 http://purl.bioontology.org/ontology/OMIM/MTHU002531 http://purl.bioontology.org/ontology/OMIM/MTHU002537 http://purl.bioontology.org/ontology/OMIM/MTHU029723 http://purl.bioontology.org/ontology/OMIM/MTHU038849 http://purl.bioontology.org/ontology/OMIM/MTHU002536 http://purl.bioontology.org/ontology/OMIM/MTHU002534 http://purl.bioontology.org/ontology/OMIM/MTHU002538 http://purl.bioontology.org/ontology/OMIM/MTHU002532 http://purl.bioontology.org/ontology/OMIM/MTHU002530
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608051
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MACULAR DYSTROPHY, RETINAL, 2
tui	T019

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C562746	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C562746	Medical Subject Headings	LOOM