junctional epidermolysis bullosa Herlitz type
Go to external page http://purl.obolibrary.org/obo/MONDO_0009182
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. [ Orphanet:79404 ]
Synonyms: JEB-H Herlitz-Pearson-type epidermolysis bullosa epidermolysis bullosa letalis Herlitz type epidermolysis bullosa junctionalis JEB, generalised severe JEB-Herlitz type junctional epidermolysis bullosa generalisata gravis JEB, generalized severe junctional epidermolysis bullosa, Herlitz-Pearson type
Term information
- NANDO:2201378 (https://orcid.org/0000-0003-0011-764X)
- SCTID:400140006 (MONDO:equivalentTo)
- DOID:0060737 (MONDO:equivalentTo)
- MEDGEN:36328 (MONDO:equivalentTo)
- UMLS:C0079683 (MONDO:equivalentTo)
- OMIM:226700 (Orphanet:79404/e)
- NANDO:2200119 (https://orcid.org/0000-0003-0011-764X)
- GARD:2153 (MONDO:GARD)
- Orphanet:79404 (OMIM:226700)
- NANDO:1201065 (https://orcid.org/0000-0003-0011-764X)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare
http://identifiers.org/medgen/36328
http://www.orpha.net/ORDO/Orphanet_79404
http://linkedlifedata.com/resource/umls/id/C0079683
http://identifiers.org/snomedct/400140006
http://purl.obolibrary.org/obo/DOID_0060737
https://omim.org/entry/226700
epidermolysis bullosa, junctional, Herlitz-Pearson type
epidermolysis bullosa, junctional, Herlitz type
Herlitz-Pearson type epidermolysis bullosa
junctional epidermolysis bullosa, generalised severe
epidermolysis bullosa Junctionalis, Herlitz type
junctional epidermolysis bullosa, Herlitz type
junctional epidermolysis bullosa, generalized severe
https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type