Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/606660 http://purl.bioontology.org/ontology/OMIM/606660
Preferred Name	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1
Synonyms	UVM1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	UVM1
prefLabel	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1
Gene Symbol	TPDS2 MBD4 MED1
Scope Statement	Adult onset [MISCELLANEOUS] Susceptibility conferred by mutation in the methyl-CpG-binding domain protein 4 gene (MBD4, 603574.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU035642 http://purl.bioontology.org/ontology/OMIM/MTHU075781 http://purl.bioontology.org/ontology/OMIM/MTHU075782
tui	T033
Gene Locus	3q21-q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	606660
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1847724
OMIM Entry Type	3
OMIM MimType Value	pound

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