Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Dystrophic epidermolysis bullosa
Synonyms	DEB Dermolytic epidermolysis bullosa Epidermolysis bullosa dystrophica
ID	http://www.limics.org/hrdo/rdfns#pat_id_8623
ageOfOnset	Neonatal/infancy
altLabel	DEB Dermolytic epidermolysis bullosa Epidermolysis bullosa dystrophica
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=epidermolysis+bullosa+dystrophica%5Bmh%5D+OR+Epidermolysis+Bullosa+dystroph%5Btw%5D+OR+dystrophic+Epidermolysis+Bullo%5Btw%5D
id_OMS	Q81.2
id_Orpha	303
id_SNOMEDCT	254185007
inheritance	Autosomal dominant Autosomal recessive Sporadic
patType	group of phenomes
prefixIRI	hrdo:pat_id_8623
prefLabel	Dystrophic epidermolysis bullosa
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_11387 http://www.limics.org/hrdo/rdfns#pat_id_16852

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://sbmi.uth.tmc.edu/ontology/ochv#C0079294	OCHV	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254185007	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DERMO_0001593	DERMO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU023422	OMIM	LOOM
http://nanbyodata.jp/ontology/NANDO_2201343	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_303	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_303	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_303	ORDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087381	MEDDRA	LOOM
http://purl.bioontology.org/ontology/RCD/X78Cf	RCD	LOOM