Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Achondrogenesis
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_1256
ageOfOnset	Neonatal/infancy
id_MedDRA	10066122
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Osteochondrodysplasias%5Bmh%5D+AND+achondrogenesis%5Btw%5D%29+OR+achondrogenesis%5Bti%5D
id_OMS	Q77.0
id_Orpha	932
id_SNOMEDCT	2391001
id_UMLS	C0001079
inheritance	Autosomal dominant Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_1256
prefLabel	Achondrogenesis
prevalence	<1 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080043	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0019648	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019648	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080043	DOID	LOOM
http://purl.bioontology.org/ontology/MESH/C579878	MESH	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.0	ICD10	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84527	NCIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001079	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C579878	RH-MESH	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.0	ICD10CM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondrogenesis	CSEO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG4B000	RCTV2	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/2391001	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/PG4B0	RCD	LOOM
http://purl.obolibrary.org/obo/MONDO_0019648	DOVES	LOOM
http://www.gamuts.net/entity#achondrogenesis	GAMUTS	LOOM
http://www.orpha.net/ORDO/Orphanet_932	ORDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080043	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0080043	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080043	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080043	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080043	FNS-H	LOOM
http://purl.obolibrary.org/obo/NCIT_C84527	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066122	MEDDRA	LOOM