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pachyonychia congenita

Go to external page http://purl.obolibrary.org/obo/MONDO_0016471

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. [ Orphanet:2309 ]

Synonyms: PC pachyonychia congenita, Jadassohn-Lewandowsky type Jadassohn-Lewandowsky syndrome Jackson-Lawler type pachyonychia congenita

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0265334 (MONDO:equivalentTo)
  • MESH:D053549 (Orphanet:2309/e)
  • Orphanet:2309 (MONDO:equivalentTo)
  • MEDGEN:78556 (MONDO:equivalentTo)
  • GARD:10753 (MONDO:GARD)
  • OMIMPS:167200 (https://orcid.org/0000-0002-6601-2165)
  • NCIT:C84986 (MONDO:equivalentTo)
  • NORD:1542 (MONDO:NORD)
  • DOID:0050449 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

exactMatch

http://purl.obolibrary.org/obo/DOID_0050449

http://www.orpha.net/ORDO/Orphanet_2309

https://omim.org/phenotypicSeries/PS167200

http://identifiers.org/medgen/78556

http://identifiers.org/mesh/D053549

http://linkedlifedata.com/resource/umls/id/C0265334

http://purl.obolibrary.org/obo/NCIT_C84986

has narrow synonym

pachyonychia congenita type 1

has related synonym

pachyonychia congenita syndrome

congenital pachyonychia

id

MONDO:0016471

seeAlso

https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita

Term relations