Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	MASS syndrome
Synonyms	Mitral valve-aorta-skeleton-skin syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_14288
altLabel	Mitral valve-aorta-skeleton-skin syndrome
id_Medline	neant
id_MIM	604308
id_Orpha	99715
inheritance	Autosomal dominant
patType	clinical subtype
prefixIRI	hrdo:pat_id_14288
prefLabel	MASS syndrome
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_00

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C536030	MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_99715	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011431	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/604308	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536030	RH-MESH	LOOM