Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Pigment-dispersion syndrome
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_8770
ageOfDeath	Normal
ageOfOnset	Adolescence / Young adulthood
id_MedDRA	10052134
id_MIM	600510
id_Orpha	26823
id_SNOMEDCT	392133001
id_UMLS	C1271398
inheritance	Autosomal dominant
patType	disease
prefixIRI	hrdo:pat_id_8770
prefLabel	Pigment-dispersion syndrome
prevalence	>1 / 1000
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_0060680	DDSS	LOOM
http://purl.obolibrary.org/obo/MONDO_0010896	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0060680	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0010896	EFO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU067861	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C187288	NCIT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052134	MEDDRA	LOOM
http://purl.obolibrary.org/obo/DOID_0060680	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060680	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060680	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0060680	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0010896	DOVES	LOOM
http://purl.obolibrary.org/obo/NCIT_C187288	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/392133001	SNOMEDCT	LOOM