Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

inherited epidermolysis bullosa
Synonyms

hereditary epidermolysis bullosa

epidermolysis bullosa hereditaria

Definitions

Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.

ID

http://purl.obolibrary.org/obo/MONDO_0019276

database_cross_reference

GARD:18992

Orphanet:79361

ICD9:757.39

SCTID:402781004

definition

Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.

exactMatch

http://identifiers.org/snomedct/402781004

http://purl.obolibrary.org/obo/Orphanet_79361

has_exact_synonym

hereditary epidermolysis bullosa

epidermolysis bullosa hereditaria

id

MONDO:0019276

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

inherited epidermolysis bullosa

notation

MONDO:0019276

prefLabel

inherited epidermolysis bullosa

treeView

http://purl.obolibrary.org/obo/MONDO_0100118

http://purl.obolibrary.org/obo/MONDO_0019268

http://purl.obolibrary.org/obo/MONDO_0006541

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100118

http://purl.obolibrary.org/obo/MONDO_0019268

http://purl.obolibrary.org/obo/MONDO_0006541

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