Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Pachydermoperiostosis
Synonyms	PDP Touraine-Solente-Gole syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_2542
ageOfDeath	Normal
ageOfOnset	Childhood
altLabel	PDP Touraine-Solente-Gole syndrome
id_MedDRA	10051686
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pachydermoperiostosis+OR+%28hypertrophic+osteoarthropathy%5Btw%5D+%28primary+OR+idiopathic%29%29+NOT+%28ae%5Bsh%5D+OR+ci%5Bsh%5D%29
id_MIM	167100 259100 614441
id_OMS	M89.4
id_Orpha	2796
id_SNOMEDCT	88220006
inheritance	Autosomal recessive
patType	malformation syndrome
prefixIRI	hrdo:pat_id_2542
prefLabel	Pachydermoperiostosis
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://www.orpha.net/ORDO/Orphanet_2796	ORDO	LOOM
http://nanbyodata.jp/ontology/NANDO_2100288	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_2201004	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200642	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_2796	EFO	LOOM
rgo:06383	GAMUTS	LOOM
http://purl.jp/bio/4/id/200906064854255082	IOBC	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051686	MEDDRA	LOOM
http://purl.org/skeletome/bonedysplasia#Pachydermoperiostosis	BDO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14718	DERMLEX	LOOM
http://www.orpha.net/ORDO/Orphanet_2796	ORDO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000672	DERMO	LOOM