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epidermolysis bullosa simplex 2F, with mottled pigmentation

Go to external page http://purl.obolibrary.org/obo/MONDO_0007556

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. [ Orphanet:79397 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex with mottled pigmentation EBS-MP

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:140934 (MONDO:equivalentTo)
  • SCTID:254180002 (MONDO:equivalentTo)
  • DOID:0111346 (MONDO:equivalentTo)
  • GARD:9737 (MONDO:GARD)
  • UMLS:C0432316 (MONDO:equivalentTo)
  • ICD9:757.39 (MONDO:relatedTo)
  • OMIM:131960 (Orphanet:79397/e)
  • MESH:C535959 (Orphanet:79397/e)
  • Orphanet:79397 (OMIM:131960)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/4499

exactMatch

http://identifiers.org/medgen/140934

http://purl.obolibrary.org/obo/DOID_0111346

http://identifiers.org/snomedct/254180002

http://linkedlifedata.com/resource/umls/id/C0432316

http://identifiers.org/mesh/C535959

https://omim.org/entry/131960

http://www.orpha.net/ORDO/Orphanet_79397

has related synonym

EBSMP

speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering

EBS with mottled pigmentation

speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering

id

MONDO:0007556

seeAlso

https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation