Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Uhl anomaly
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_3001
ageOfDeath	Before age 5
ageOfOnset	Neonatal/infancy
id_MedDRA	10048951
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Uhl+anomaly%5BTi%5D+OR+uhl%27s+disease%5Bti%5D+OR+uhl%27s+anomaly%5Bti%5D
id_MeSH	C536932
id_MIM	107970
id_OMS	Q24.8
id_Orpha	3403
id_SNOMEDCT	2829000
id_UMLS	C0265857
inheritance	Sporadic
patType	morphological anomaly
prefixIRI	hrdo:pat_id_3001
prefLabel	Uhl anomaly
prevalence	<1 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
rgo:13448	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0018084	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_3403	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018084	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536932	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/C536932	MESH	LOOM