Experimental Factor Ontology - epidermolysis bullosa simplex 1A, generalized severe - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: October 15, 2024

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Preferred Name	epidermolysis bullosa simplex 1A, generalized severe
Synonyms	Dowling-Meara type epidermolysis bullosa simplex epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex, generalised severe EBS-DM generalized severe epidermolysis bullosa simplex epidermolysis bullosa herpetiformis Dowling-Meara type EBS, generalised severe epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex Dowling-Meara type generalised severe epidermolysis bullosa simplex epidermolysis bullosa simplex, herpetiformis EBS, generalized severe EBS-gen sev EBSDM
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	MEDGEN:38194 Orphanet:79396 UMLS:C0079295 DOID:0060735 OMIM:131760 SCTID:254179000 GARD:2141 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.
has_exact_synonym	generalized severe epidermolysis bullosa simplex epidermolysis bullosa herpetiformis Dowling-Meara type EBS, generalised severe epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex Dowling-Meara type generalised severe epidermolysis bullosa simplex epidermolysis bullosa simplex, herpetiformis EBS, generalized severe EBS-gen sev EBSDM
has_related_synonym	Dowling-Meara type epidermolysis bullosa simplex epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex, generalised severe EBS-DM
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/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	epidermolysis bullosa simplex 1A, generalized severe
notation	MONDO:0007550
preferred label	epidermolysis bullosa simplex 1A, generalized severe
prefLabel	epidermolysis bullosa simplex 1A, generalized severe
see also	https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type
skos_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 http://identifiers.org/medgen/38194 http://linkedlifedata.com/resource/umls/id/C0079295
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	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	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007550	DOVES	LOOM