Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Galactosidase, beta 1
Synonyms	ELNR1
ID	http://www.limics.org/hrdo/rdfns#gen_id_16136
altLabel	ELNR1 EBP
geneSymbol	GLB1
id_Ensembl	ENSG00000170266
id_Genatlas	GLB1
id_HGNC	4298
id_MIM	611458
id_Reactome	P16278
id_SwissProt	P16278
prefixIRI	hrdo:gen_id_16136
prefLabel	Galactosidase, beta 1
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/611458	OMIM	LOOM
http://www.ncbi.nlm.nih.gov/gene/12091	NIFSTD	LOOM
http://www.orpha.net/ORDO/Orphanet_122156	ORDO	LOOM