Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Progressive cone dystrophy
Synonyms	Cone dystrophy
ID	http://www.limics.org/hrdo/rdfns#pat_id_1842
altLabel	Cone dystrophy
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cone%5Bti%5D+dystroph*%5Bti%5D+dominant
id_MIM	180020 300085 304030 602093 613093
id_OMS	H35.5
id_Orpha	1871
id_SNOMEDCT	267613004
id_UMLS	C0271092
patType	disease
prefixIRI	hrdo:pat_id_1842
prefLabel	Progressive cone dystrophy
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_1871	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_1871	ORDO	LOOM
http://www.orpha.net/ORDO/Orphanet_1871	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU065416	OMIM	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_5	HAMIDEHSGH	LOOM