Digital medicine Outcomes Value Set (DOVeS) Ontology - epidermolysis bullosa simplex 1C, localized - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	epidermolysis bullosa simplex 1C, localized
Synonyms	EBS, acral form epidermolysis bullosa of hands and feet Weber-Cockayne syndrome Weber-Cockayne type epidermolysis bullosa simplex epidermolysis bullosa simplex, localized EBS-loc localized epidermolysis bullosa simplex epidermolysis bullosa simplex, Weber-Cockayne type epidermolysis bullosa simplex of palms and soles epidermolysis bullosa simplex 1C, localized
Definitions	A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
ID	http://purl.obolibrary.org/obo/MONDO_0007551
altLabel	EBS, acral form epidermolysis bullosa of hands and feet Weber-Cockayne syndrome Weber-Cockayne type epidermolysis bullosa simplex epidermolysis bullosa simplex, localized EBS-loc localized epidermolysis bullosa simplex epidermolysis bullosa simplex, Weber-Cockayne type epidermolysis bullosa simplex of palms and soles epidermolysis bullosa simplex 1C, localized
definition	A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
has_exact_synonym	EBS-loc localized epidermolysis bullosa simplex epidermolysis bullosa simplex, Weber-Cockayne type epidermolysis bullosa simplex of palms and soles epidermolysis bullosa simplex 1C, localized
has_related_synonym	EBS, acral form epidermolysis bullosa of hands and feet Weber-Cockayne syndrome Weber-Cockayne type epidermolysis bullosa simplex epidermolysis bullosa simplex, localized
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521
label	epidermolysis bullosa simplex 1C, localized
prefixIRI	MONDO:0007551
prefLabel	epidermolysis bullosa simplex 1C, localized
seeAlso	https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized
textual definition	A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017610

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0007551	CCONT	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007551	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007551	EFO	SAME_URI
	http://purl.bioontology.org/ontology/OMIM/131800	OMIM	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007551	CCONT	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007551	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007551	EFO	LOOM