Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Microform holoprosencephaly
Synonyms	Microform HPE
ID	http://www.limics.org/hrdo/rdfns#pat_id_20436
ageOfDeath	Adult
ageOfOnset	Neonatal/infancy
altLabel	Microform HPE
id_Medline	neant
id_MIM	236100
id_OMS	Q04.2
id_Orpha	280200
inheritance	Multigenic/multifactorial
patType	clinical subtype
prefixIRI	hrdo:pat_id_20436
prefLabel	Microform holoprosencephaly
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0017219	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_280200	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017219	EFO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU068127	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0017219	DOVES	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1197215004	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_280200	ORDO	LOOM