Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	galactosidase beta 1
Synonyms	EBP elastin binding protein
ID	http://www.orpha.net/ORDO/Orphanet_122156
alternative_term	EBP elastin binding protein
hasDbXref	Genatlas:GLB1 ClinVar:GLB1 Reactome:P16278 SwissProt:P16278 OMIM:611458 Ensembl:ENSG00000170266 HGNC:4298
label	galactosidase beta 1
prefixIRI	ORDO:Orphanet_122156
prefLabel	galactosidase beta 1
symbol	GLB1
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.limics.org/hrdo/rdfns#gen_id_16136	HRDO	LOOM
http://purl.bioontology.org/ontology/OMIM/611458	OMIM	LOOM
http://www.ncbi.nlm.nih.gov/gene/12091	NIFSTD	LOOM