Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Epidermal nevus syndrome
Synonyms	Epidermal hamartoma syndrome
ID	http://www.limics.org/hrdo/rdfns#pat_id_10375
ageOfDeath	No data available
ageOfOnset	Neonatal/infancy
altLabel	Epidermal hamartoma syndrome
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Epidermal+nevus+syndrome%5Btw%5D+OR+Solomon+syndrome%5Btw%5D
id_MeSH	C536114 D054000
id_OMS	Q85.8
id_Orpha	35125
id_SNOMEDCT	239107007 25201003
id_UMLS	C0334082
inheritance	Sporadic
patType	disease
prefixIRI	hrdo:pat_id_10375
prefLabel	Epidermal nevus syndrome
prevalence	1-9 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Epidermal_Nevus_Syndrome	ESSO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Epidermal_Nevus_Syndrome	MEPO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Epidermal_Nevus_Syndrome	EPISEM	LOOM
http://www.orpha.net/ORDO/Orphanet_35125	ORDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10077961	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/239112008	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018115	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018115	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018115	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018115	DOVES	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25895	OCHV	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265329	OCHV	LOOM
rgo:06346	GAMUTS	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14667	DERMLEX	LOOM