JSON

junctional epidermolysis bullosa

Go to external page http://purl.obolibrary.org/obo/MONDO_0017612

Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. [ Orphanet:305 ]

Synonyms: junctional epidermolysis bullosa epidermolysis bullosa atrophicans JEB EBJ congenital junctional epidermolysis bullosa

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:79855003 (MONDO:equivalentTo)
  • NCIT:C90598 (MONDO:equivalentTo)
  • DOID:3209 (MONDO:equivalentTo)
  • MEDGEN:86898 (MONDO:equivalentTo)
  • NANDO:2201342 (https://orcid.org/0000-0003-0011-764X)
  • MESH:D016109 (Orphanet:305/e)
  • OMIMPS:226650 (MONDO:equivalentTo)
  • UMLS:C0079301 (MONDO:equivalentTo)
  • Orphanet:305 (MONDO:equivalentTo)
  • NANDO:1200236 (https://orcid.org/0000-0003-0011-764X)
  • GARD:2152 (MONDO:GARD)
  • icd11.foundation:1501260457 (Orphanet:305)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

abbreviation
JEB [ Orphanet:305 ]

abbreviation
EBJ [ Orphanet:305 ]

ClinGen label
junctional epidermolysis bullosa

exactMatch

http://identifiers.org/snomedct/79855003

http://purl.obolibrary.org/obo/NCIT_C90598

http://linkedlifedata.com/resource/umls/id/C0079301

http://www.orpha.net/ORDO/Orphanet_305

http://identifiers.org/medgen/86898

http://identifiers.org/mesh/D016109

http://purl.obolibrary.org/obo/DOID_3209

https://omim.org/phenotypicSeries/PS226650

has related synonym

epidermolysis bullosa, junctional

epidermolysis bullosa hereditaria letalis

id

MONDO:0017612

seeAlso

https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

Term relations