Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Fibrillin 1
Synonyms	MFS1 WMS MASS OCTD SGS FBN
ID	http://www.limics.org/hrdo/rdfns#gen_id_16032
altLabel	MFS1 WMS MASS OCTD SGS FBN
geneSymbol	FBN1
id_Ensembl	ENSG00000166147
id_Genatlas	FBN1
id_HGNC	3603
id_MIM	134797
id_Reactome	P35555
id_SwissProt	P35555
prefixIRI	hrdo:gen_id_16032
prefLabel	Fibrillin 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/134797	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C32596	BERO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020945	PMAPP-PMO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C32596	NCIT	LOOM
http://purl.jp/bio/4/id/200906015683059904	IOBC	LOOM
http://purl.obolibrary.org/obo/MESH_D000071838	BERO	LOOM
http://purl.obolibrary.org/obo/HINO_0005985	HINO	LOOM
http://purl.org/skeletome/bonedysplasia#P000063	BDO	LOOM
http://purl.obolibrary.org/obo/PR_000007362	PR	LOOM
http://purl.obolibrary.org/obo/PR_000007362	CIDO	LOOM
http://purl.obolibrary.org/obo/PR_000007362	NIFSTD	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25124	OCHV	LOOM
http://www.orpha.net/ORDO/Orphanet_121752	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/D000071838	MESH	LOOM