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junctional epidermolysis bullosa, non-Herlitz type

Go to external page http://purl.obolibrary.org/obo/MONDO_0009180

Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. [ Orphanet:89840 ]

Synonyms: JEN-nH

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:82798 (MONDO:equivalentTo)
  • Orphanet:89840 (OMIM:226650)
  • UMLS:C0268374 (MONDO:equivalentTo)
  • SCTID:33662006 (MONDO:equivalentTo)
  • NANDO:2201379 (https://orcid.org/0000-0003-0011-764X)
  • OMIM:226650 (Orphanet:89840/e)
  • NANDO:1201066 (https://orcid.org/0000-0003-0011-764X)
  • ICD9:757.39 (MONDO:relatedTo)
Subsets

gard_rare, otar, rare, nord_rare

exactMatch

http://identifiers.org/snomedct/33662006

http://identifiers.org/medgen/82798

http://linkedlifedata.com/resource/umls/id/C0268374

https://omim.org/entry/226650

has related synonym

epidermolysis bullosa Junctionalis, non-Herlitz type

JEB-I

JEB-nH

epidermolysis bullosa Junctionalis, progressive

epidermolysis bullosa, generalized atrophic benign

epidermolysis bullosa, generalised atrophic benign

junctional epidermolysis bullosa inversa

epidermolysis bullosa, junctional, non-Herlitz type

epidermolysis bullosa Junctionalis, severe Nonlethal

epidermolysis bullosa Junctionalis, Disentis type

epidermolysis bullosa, junctional, Localisata variant

id

MONDO:0009180