Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	polybromo 1
Synonyms	PB1 SMARCH1 BAF180
ID	http://www.orpha.net/ORDO/Orphanet_434716
alternative_term	PB1 SMARCH1 BAF180
hasDbXref	SwissProt:Q86U86 IUPHAR:2738 ClinVar:PBRM1 Reactome:Q86U86 Genatlas:PBRM1 OMIM:606083 Ensembl:ENSG00000163939 HGNC:30064
label	polybromo 1
prefixIRI	ORDO:Orphanet_434716
prefLabel	polybromo 1
symbol	PBRM1
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/606083	OMIM	LOOM