Digital medicine Outcomes Value Set (DOVeS) Ontology - epidermolysis bullosa simplex 1A, generalized severe - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	epidermolysis bullosa simplex 1A, generalized severe
Synonyms	epidermolysis bullosa simplex, generalized severe Dowling-Meara type epidermolysis bullosa simplex EBS-DM epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type EBS-gen sev epidermolysis bullosa simplex Dowling-Meara type generalized severe epidermolysis bullosa simplex EBSDM epidermolysis bullosa simplex, herpetiformis EBS, generalized severe epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex 1A, generalized severe
Definitions	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
ID	http://purl.obolibrary.org/obo/MONDO_0007550
altLabel	epidermolysis bullosa simplex, generalized severe Dowling-Meara type epidermolysis bullosa simplex EBS-DM epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type EBS-gen sev epidermolysis bullosa simplex Dowling-Meara type generalized severe epidermolysis bullosa simplex EBSDM epidermolysis bullosa simplex, herpetiformis EBS, generalized severe epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex 1A, generalized severe
definition	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
has_exact_synonym	EBS-gen sev epidermolysis bullosa simplex Dowling-Meara type generalized severe epidermolysis bullosa simplex EBSDM epidermolysis bullosa simplex, herpetiformis EBS, generalized severe epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex 1A, generalized severe
has_related_synonym	epidermolysis bullosa simplex, generalized severe Dowling-Meara type epidermolysis bullosa simplex EBS-DM epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521
label	epidermolysis bullosa simplex 1A, generalized severe
prefixIRI	MONDO:0007550
prefLabel	epidermolysis bullosa simplex 1A, generalized severe
seeAlso	https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type
textual definition	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017610

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0007550	CCONT	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007550	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007550	EFO	SAME_URI
	http://purl.bioontology.org/ontology/OMIM/131760	OMIM	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007550	CCONT	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007550	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007550	EFO	LOOM