Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Polymalformative genetic syndrome with increased risk of developing cancer
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_18230
ageOfDeath	Any age
ageOfOnset	Variable
id_Orpha	183422
inheritance	Autosomal dominant Autosomal recessive
patType	group of phenomes
prefixIRI	hrdo:pat_id_18230
prefLabel	Polymalformative genetic syndrome with increased risk of developing cancer
prevalence	1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_16945

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_183422	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_183422	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_183422	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015945	KTAO	LOOM