Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Primary congenital hypothyroidism
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_19030
id_Orpha	226295
patType	group of phenomes
prefixIRI	hrdo:pat_id_19030
prefLabel	Primary congenital hypothyroidism
prevalence	1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_19029

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_226295	ORDO	LOOM
http://www.ebi.ac.uk/efo/EFO_0700053	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016409	DOVES	LOOM
http://purl.bioontology.org/ontology/LNC/LA12538-7	LOINC	LOOM