Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Generalized pustular psoriasis
Synonyms	GPP DITRA Deficiency of the IL-36R antagonist Deficiency of the IL-36Ra
ID	http://www.limics.org/hrdo/rdfns#pat_id_19519
ageOfOnset	Adulthood
altLabel	GPP DITRA Deficiency of the IL-36R antagonist Deficiency of the IL-36Ra
id_Medline	neant
id_MIM	614204
id_OMS	L40.1
id_Orpha	247353
id_SNOMEDCT	238612002
id_UMLS	C0343055
inheritance	Autosomal recessive Sporadic
patType	disease
prefixIRI	hrdo:pat_id_19519
prefLabel	Generalized pustular psoriasis
prevalence	1-9 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C202121	NCIT	LOOM
http://www.orpha.net/ORDO/Orphanet_247353	ORDO	LOOM
http://purl.bioontology.org/ontology/ICD10CM/L40.1	ICD10CM	LOOM
http://purl.jp/bio/4/id/201306068563139113	IOBC	LOOM
http://purl.bioontology.org/ontology/ICD10/L40.1	ICD10	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0343055	OCHV	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Generalized_pustular_psoriasis	RPO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/238612002	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0100491	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100491	DOVES	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#30823	OCHV	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15702	DERMLEX	LOOM