Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Fanconi anemia, complementation group D2
Synonyms	FACD
ID	http://www.limics.org/hrdo/rdfns#gen_id_16023
altLabel	FACD FA-D2 FANCD FAD
geneSymbol	FANCD2
id_Ensembl	ENSG00000144554
id_Genatlas	FANCD2
id_HGNC	3585
id_MIM	613984
id_Reactome	Q9BXW9
id_SwissProt	Q9BXW9
prefixIRI	hrdo:gen_id_16023
prefLabel	Fanconi anemia, complementation group D2
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.obolibrary.org/obo/MONDO_0009214	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009214	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009214	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009214	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0009214	KTAO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125706	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C125706	BERO	LOOM
http://identifiers.org/omim/227646	REXO	LOOM
http://identifiers.org/omim/227646	GEXO	LOOM
http://identifiers.org/omim/227646	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_0111083	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111083	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111083	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111083	FNS-H	LOOM
http://purl.obolibrary.org/obo/OMIM_227646	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/227646	OMIM	LOOM