junctional epidermolysis bullosa
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 ]
Term info
- SCTID:79855003 (MONDO:equivalentTo)
- OMIMPS:226650 (MONDO:equivalentTo)
- MESH:D016109 (Orphanet:305/e)
- UMLS:C0079301 (Orphanet:305/e)
- DOID:3209 (MONDO:equivalentTo)
- Orphanet:305 (MONDO:equivalentTo)
- NCIT:C90598 (MONDO:equivalentTo)
- GARD:0002152 (MONDO:equivalentTo)
gard_rare, disease_grouping, ordo_group_of_disorders
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.
http://identifiers.org/snomedct/79855003, http://purl.obolibrary.org/obo/NCIT_C90598, http://linkedlifedata.com/resource/umls/id/C0079301, http://identifiers.org/mesh/D016109, http://purl.obolibrary.org/obo/DOID_3209, http://purl.obolibrary.org/obo/Orphanet_305, https://omim.org/phenotypicSeries/PS226650
junctional epidermolysis bullosa, epidermolysis bullosa atrophicans, JEB, EBJ, congenital junctional epidermolysis bullosa
epidermolysis bullosa hereditaria letalis, epidermolysis bullosa, junctional
MONDO:0017612
https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa