Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Blau syndrome
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_12018
ageOfOnset	Neonatal/infancy
id_Medline	neant
id_MIM	186580
id_Orpha	90340
inheritance	Autosomal dominant Sporadic
patType	disease
prefixIRI	hrdo:pat_id_12018
prefLabel	Blau syndrome
prevalence	<1 / 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
rgo:25821	GAMUTS	LOOM
http://identifiers.org/omim/186580	REXO	LOOM
http://identifiers.org/omim/186580	GEXO	LOOM
http://identifiers.org/omim/186580	RETO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000683	DERMO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008523	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008523	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008523	DOVES	LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00062	OCIMIDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C116794	BERO	LOOM
http://purl.obolibrary.org/obo/DOID_0050678	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050678	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0050678	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050678	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050678	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0050678	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050678	FNS-H	LOOM
http://purl.bioontology.org/ontology/OMIM/186580	OMIM	LOOM
http://purl.bioontology.org/ontology/MESH/C538157	MESH	LOOM
urn:agi-pathway:uuid-c741164a-5c16-4f88-9873-2a11395376c1	BPT	LOOM
http://purl.jp/bio/4/id/200906086521095782	IOBC	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/818950005	SNOMEDCT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116794	NCIT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071755	MEDDRA	LOOM
http://www.orpha.net/ORDO/Orphanet_90340	ORDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200476	NANDO	LOOM
http://purl.obolibrary.org/obo/OMIM_186580	CCO	LOOM