Mondo Disease Ontology - epidermolysis bullosa simplex 1A, generalized severe - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: May 9, 2024

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Preferred Name	epidermolysis bullosa simplex 1A, generalized severe
Synonyms	epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex, generalised 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 EBS, generalised severe generalized severe epidermolysis bullosa simplex EBSDM epidermolysis bullosa simplex, herpetiformis EBS, generalized severe epidermolysis bullosa herpetiformis Dowling-Meara type generalised severe epidermolysis bullosa simplex 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
database_cross_reference	DOID:0060735 GARD:2141 Orphanet:79396 OMIM:131760 SCTID:254179000 ICD9:771.2
definition	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
exactMatch	http://purl.obolibrary.org/obo/Orphanet_79396 http://identifiers.org/snomedct/254179000 https://omim.org/entry/131760 http://purl.obolibrary.org/obo/DOID_0060735
has_exact_synonym	EBS-gen sev epidermolysis bullosa simplex Dowling-Meara type EBS, generalised severe generalized severe epidermolysis bullosa simplex EBSDM epidermolysis bullosa simplex, herpetiformis EBS, generalized severe epidermolysis bullosa herpetiformis Dowling-Meara type generalised severe epidermolysis bullosa simplex epidermolysis bullosa simplex 1A, generalized severe
has_related_synonym	epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex, generalised 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
id	MONDO:0007550
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 1A, generalized severe
notation	MONDO:0007550
prefLabel	epidermolysis bullosa simplex 1A, generalized severe
seeAlso	https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type
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_0007550	CCONT	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007550	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007550	DOVES	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	EFO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007550	DOVES	LOOM