Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/153700 http://purl.bioontology.org/ontology/OMIM/153700
Preferred Name	MACULAR DYSTROPHY, VITELLIFORM, 2
Synonyms	BEST MACULAR DYSTROPHY VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL BMD MACULAR DEGENERATION, POLYMORPHIC VITELLINE VMD2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BEST MACULAR DYSTROPHY VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL BMD MACULAR DEGENERATION, POLYMORPHIC VITELLINE VMD2 See more See less
prefLabel	MACULAR DYSTROPHY, VITELLIFORM, 2
Gene Symbol	BEST1 RP50 ARB VMD2
Scope Statement	Some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in BEST1, with their heterozygous relatives showing milder forms of eye disease [MISCELLANEOUS] Caused by mutation in the bestrophin-1 gene (BEST1, 607854.0001) [MOLECULAR BASIS] Variable age of onset, from early childhood to seventh decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU045149 http://purl.bioontology.org/ontology/OMIM/MTHU045153 http://purl.bioontology.org/ontology/OMIM/MTHU045150 http://purl.bioontology.org/ontology/OMIM/MTHU045154 http://purl.bioontology.org/ontology/OMIM/MTHU045151 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU045152 See more See less
tui	T047
Gene Locus	11q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	153700
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2675055 C2745945
OMIM Entry Type	3
OMIM MimType Value	pound

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