Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	OCA2 melanosomal transmembrane protein
Synonyms	BEY1
ID	http://www.orpha.net/ORDO/Orphanet_123974
alternative_term	BEY1 BEY2 EYCL BEY P-protein melanocyte-specific transporter protein
hasDbXref	OMIM:611409 SwissProt:Q04671 Ensembl:ENSG00000104044 Genatlas:OCA2 Reactome:Q04671 HGNC:8101
label	OCA2 melanosomal transmembrane protein
prefixIRI	ORDO:Orphanet_123974
prefLabel	OCA2 melanosomal transmembrane protein
symbol	OCA2
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/611409	OMIM	LOOM