Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Polysyndactyly
Synonyms	Preaxial polydactyly type 4 PPD4
ID	http://www.limics.org/hrdo/rdfns#pat_id_12273
altLabel	Preaxial polydactyly type 4 PPD4
id_MedDRA	10063143
id_Medline	neant
id_MIM	174700
id_OMS	Q70.4
id_Orpha	93338
id_SNOMEDCT	81330005 84598000
id_UMLS	C0265553
inheritance	Autosomal dominant
patType	morphological anomaly
prefixIRI	hrdo:pat_id_12273
prefLabel	Polysyndactyly
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
rgo:28568	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125597	NCIT	LOOM
http://www.orpha.net/ORDO/Orphanet_93338	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_93338	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_93338	ORDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PF15.00	RCTV2	LOOM
http://purl.bioontology.org/ontology/ICD10/Q70.4	ICD10	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-12216	SNMI	LOOM
http://purl.obolibrary.org/obo/NCIT_C125597	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/84598000	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063143	MEDDRA	LOOM
http://id.nlm.nih.gov/mesh/D013576	MDM	LOOM
http://purl.obolibrary.org/obo/MP_0004083	MP	LOOM
http://purl.obolibrary.org/obo/MP_0004083	UPHENO	LOOM
http://purl.obolibrary.org/obo/MP_0004083	CHIRO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU040959	OMIM	LOOM
http://purl.bioontology.org/ontology/RCD/X7880	RCD	LOOM