Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Muenke syndrome
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_10716
ageOfOnset	Neonatal/infancy
id_Medline	neant
id_MeSH	C537369
id_MIM	602849
id_OMS	Q87.0
id_Orpha	53271
id_SNOMEDCT	440350001
id_UMLS	C1864436
inheritance	Autosomal dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_10716
prefLabel	Muenke syndrome
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0060703	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	MONDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/787407003	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_53271	ORDO	LOOM
http://purl.obolibrary.org/obo/OMIM_602849	CCO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	DOVES	LOOM
http://identifiers.org/omim/602849	REXO	LOOM
http://identifiers.org/omim/602849	GEXO	LOOM
http://identifiers.org/omim/602849	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C537369	MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/602849	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84904	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muenke_Syndrome	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	FNS-H	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03000	RCTV2	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537369	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10088781	MEDDRA	LOOM
http://purl.obolibrary.org/obo/NCIT_C84904	BERO	LOOM