Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Hypochondrogenesis
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_12234
ageOfOnset	Neonatal/infancy
id_Medline	neant
id_MIM	200610
id_OMS	Q77.0
id_Orpha	93297
id_SNOMEDCT	205483007
id_UMLS	C0542428
inheritance	Autosomal dominant
patType	clinical subtype
prefixIRI	hrdo:pat_id_12234
prefLabel	Hypochondrogenesis
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080044	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0019669	MONDO	LOOM
rgo:12508	GAMUTS	LOOM
http://www.orpha.net/ORDO/Orphanet_93297	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019669	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0019669	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019669	DOVES	LOOM
http://nanbyodata.jp/ontology/NANDO_2201346	NANDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG4B100	RCTV2	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C563007	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DOID_0080044	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0080044	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080044	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0080044	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080044	FNS-H	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205483007	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MESH/C563007	MESH	LOOM
http://purl.bioontology.org/ontology/RCD/PG4B1	RCD	LOOM
http://purl.org/skeletome/bonedysplasia#Hypochondrogenesis	BDO	LOOM