Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Epidermolytic ichthyosis
Synonyms	Bullous ichthyosis Bullous congenital ichthyosiform erythroderma of Brock EI Epidermolytic hyperkeratosis Bullous congenital ichthyosiform erythroderma EHK BCIE
ID	http://www.limics.org/hrdo/rdfns#pat_id_2079
ageOfOnset	Neonatal/infancy
altLabel	Bullous ichthyosis Bullous congenital ichthyosiform erythroderma of Brock EI Epidermolytic hyperkeratosis Bullous congenital ichthyosiform erythroderma EHK BCIE
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=bullous+ichthyosiform%5Bti%5D+erythroderma%5Bti%5D+congenita%5Bti%5D+OR+Hyperkeratosis%2C+Epidermolytic%5Bmajr%5D
id_MIM	113800 607602
id_OMS	Q80.3
id_Orpha	312
id_UMLS	C0079153
inheritance	Autosomal dominant Autosomal recessive Sporadic
patType	disease
prefixIRI	hrdo:pat_id_2079
prefLabel	Epidermolytic ichthyosis
prevalence	1-9 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62569	NCIT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10078292	MEDDRA	LOOM
http://purl.obolibrary.org/obo/DERMO_0000016	DERMO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007239	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007239	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007239	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007239	DOVES	LOOM
http://purl.obolibrary.org/obo/NCIT_C62569	BERO	LOOM