Mondo Disease Ontology - epidermolysis bullosa simplex 1C, localized - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: May 9, 2024

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Preferred Name	epidermolysis bullosa simplex 1C, localized
Synonyms	epidermolysis bullosa simplex, localised 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 localised epidermolysis bullosa simplex
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
database_cross_reference	Orphanet:79400 ICD9:757.39 DOID:0080510 SCTID:294705005 OMIM:131800 GARD:2146
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.
exactMatch	http://purl.obolibrary.org/obo/Orphanet_79400 http://identifiers.org/snomedct/294705005 https://omim.org/entry/131800 http://purl.obolibrary.org/obo/DOID_0080510
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 localised epidermolysis bullosa simplex
has_related_synonym	epidermolysis bullosa simplex, localised 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
id	MONDO:0007551
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
label	epidermolysis bullosa simplex 1C, localized
notation	MONDO:0007551
prefLabel	epidermolysis bullosa simplex 1C, localized
seeAlso	https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized
treeView	http://purl.obolibrary.org/obo/MONDO_0017610
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	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007551	DOVES	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	EFO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007551	DOVES	LOOM