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diffuse nonepidermolytic palmoplantar keratoderma

Go to external page http://purl.obolibrary.org/obo/MONDO_0010962

A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. [ Orphanet:530838 ]

Synonyms: diffuse palmoplantar keratoderma, Bothnian type KRT1-related diffuse nonepidermolytic keratoderma palmoplantar keratoderma, nonepidermolytic non-epidermolytic palmoplantar keratoderma NEPPK nonepidermolytic palmoplantar keratoderma diffuse nonepidermolytic palmoplantar keratoderma

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1833030 (MONDO:equivalentTo)
  • DOID:0050428 (MONDO:equivalentTo)
  • OMIM:600962 (Orphanet:530838)
  • SCTID:716105001 (MONDO:equivalentTo)
  • Orphanet:496 (OMIM:600962)
  • MEDGEN:371463 (MONDO:equivalentTo)
  • DOID:0070550 (MONDO:equivalentTo)
  • GARD:5186 (MONDO:GARD)
  • Orphanet:530838 (MONDO:equivalentTo)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, 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, ordo_inheritance_inconsistent, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_included, 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

exactMatch

http://purl.obolibrary.org/obo/DOID_0050428

http://identifiers.org/medgen/371463

https://omim.org/entry/600962

http://linkedlifedata.com/resource/umls/id/C1833030

http://identifiers.org/snomedct/716105001

http://purl.obolibrary.org/obo/DOID_0070550

http://www.orpha.net/ORDO/Orphanet_530838

has narrow synonym

autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type

has related synonym

Thost-Unna syndrome

diffuse NEPPK

Thost-Unna disease

Unna-Thost syndrome

tylosis

Unna-Thost palmoplantar keratoderma

Thost-Unna palmoplantar keratoderma

keratoderma, nonepidermolytic palmoplantar

PPKNE

PPK diffusa circumscripta

id

MONDO:0010962

term tracker item

https://github.com/monarch-initiative/mondo/issues/6749

https://github.com/monarch-initiative/mondo/issues/4095

https://github.com/monarch-initiative/mondo/issues/6877