Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Permanent congenital hypothyroidism
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_19029
ageOfDeath	Any age
ageOfOnset	Neonatal/infancy
id_Orpha	226292
inheritance	Autosomal recessive Sporadic
patType	group of phenomes
prefixIRI	hrdo:pat_id_19029
prefLabel	Permanent congenital hypothyroidism
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_760

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0016408	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_226292	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016408	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016408	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016408	DOVES	LOOM