Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Niemann-Pick disease, type C1
Synonyms
ID	http://www.limics.org/hrdo/rdfns#gen_id_16561
geneSymbol	NPC1
id_Ensembl	ENSG00000141458
id_Genatlas	NPC1
id_HGNC	7897
id_MIM	607623
id_SwissProt	O15118
prefixIRI	hrdo:gen_id_16561
prefLabel	Niemann-Pick disease, type C1
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/DOID_0070113	DOID	LOOM
http://purl.obolibrary.org/obo/NCIT_C126864	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126864	NCIT	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#IRD_6_73_1	HAMIDEHSGH	LOOM
http://purl.bioontology.org/ontology/OMIM/257220	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0070113	HOIP	LOOM
http://purl.obolibrary.org/obo/DOID_0070113	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0070113	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0070113	TXPO	LOOM
http://purl.obolibrary.org/obo/DOID_0070113	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0070113	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0009757	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009757	DOVES	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15113	DERMLEX	LOOM