Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Autosomal dominant keratitis
Synonyms	Hereditary keratitis
ID	http://www.limics.org/hrdo/rdfns#pat_id_742
ageOfDeath	Normal
ageOfOnset	Childhood
altLabel	Hereditary keratitis
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hereditary+keratitis%5Btw%5D+OR+Autosomal+dominant+keratitis%5Btw%5D+OR+%28Keratitis/ge+AND+hereditary+AND+cornea/pa%29
id_MeSH	C537022
id_MIM	148190
id_OMS	H16.8
id_Orpha	2334
id_UMLS	C1835698
inheritance	Autosomal dominant
patType	disease
prefixIRI	hrdo:pat_id_742
prefLabel	Autosomal dominant keratitis
prevalence	Unknown
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/DOID_0111383	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111383	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111383	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111383	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111383	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111383	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0007848	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007848	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007848	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0007848	OBA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/715339004	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_2334	ORDO	LOOM