Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Spectrin, beta, non-erythrocytic 2
Synonyms	SCA5
ID	http://www.limics.org/hrdo/rdfns#gen_id_15554
altLabel	SCA5
geneSymbol	SPTBN2
id_Ensembl	ENSG00000173898
id_Genatlas	SPTBN2
id_HGNC	11276
id_MIM	604985
id_Reactome	O15020
id_SwissProt	O15020
prefixIRI	hrdo:gen_id_15554
prefLabel	Spectrin, beta, non-erythrocytic 2
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_119851	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/604985	OMIM	LOOM