Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Cone rod dystrophy
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_1843
ageOfDeath	Normal
ageOfOnset	Childhood
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cone+rod%5Bti%5D+dystroph*%5Bti%5D
id_MIM	120970 300476 300834 304020 600624 600977 601777 602093 603649 604116 604393 605549 608194 610283 610381 610478 612657 612775 613660 614500 615163
id_OMS	H35.5
id_Orpha	1872
inheritance	X-linked recessive Autosomal dominant Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_1843
prefLabel	Cone rod dystrophy
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0015993	MONDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200937	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_1872	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015993	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0050572	DOID	LOOM
http://purl.org/obo/owl/HP#HP_0000548	BDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10085521	MEDDRA	LOOM
http://www.orpha.net/ORDO/Orphanet_1872	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU001509	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0015993	DOVES	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_4	HAMIDEHSGH	LOOM
http://purl.obolibrary.org/obo/DOID_0050572	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050572	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050572	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050572	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050572	FNS-H	LOOM