Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Otopalatodigital syndrome type 1
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_12059
id_Medline	neant
id_MIM	311300
id_OMS	Q87.0
id_Orpha	90650
inheritance	X-linked dominant
patType	clinical subtype
prefixIRI	hrdo:pat_id_12059
prefLabel	Otopalatodigital syndrome type 1
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111783	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0010704	MONDO	LOOM
rgo:28503	GAMUTS	LOOM
http://purl.obolibrary.org/obo/NCIT_C118845	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010704	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010704	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010704	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536065	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084422	MEDDRA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118845	NCIT	LOOM
http://purl.obolibrary.org/obo/DOID_0111783	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111783	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111783	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111783	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111783	FNS-H	LOOM
http://www.orpha.net/ORDO/Orphanet_90650	ORDO	LOOM
http://purl.org/skeletome/bonedysplasia#Otopalatodigital_syndrome_type_1	BDO	LOOM
rgo:28009	GAMUTS	LOOM
http://purl.bioontology.org/ontology/MESH/C536065	MESH	LOOM