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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
  • OMIMPS:167200 (https://orcid.org/0000-0002-6601-2165)
  • GARD:10753 (MONDO:GARD)
  • icd11.foundation:1446983705 (MONDO:equivalentTo)
  • MEDGEN:78556 (MONDO:equivalentTo)
  • NCIT:C84986 (MONDO:equivalentTo)
  • UMLS:C0265334 (MONDO:equivalentTo)
  • DOID:0050449 (MONDO:equivalentTo)
  • MESH:D053549 (Orphanet:2309/e)
  • Orphanet:2309 (MONDO:equivalentTo)
  • NORD:1542 (MONDO:NORD)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, mondo_top_grouping_integumentary_system_disorder, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_integumentary_system_disorder

abbreviation
PC [ Orphanet:2309 ]

exactMatch

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

https://omim.org/phenotypicSeries/PS167200

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

http://identifiers.org/medgen/78556

http://identifiers.org/mesh/D053549

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1446983705

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

Term relations