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palmoplantar keratoderma, nonepidermolytic, focal 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0013073

Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16 palmoplantar keratoderma, nonepidermolytic, focal palmoplantar keratoderma, nonepidermolytic, focal type 1 KRT16 nonepidermolytic palmoplantar keratoderma palmoplantar keratoderma, nonepidermolytic, focal 1

This is just here as a test because I lose it

Term information

database cross reference
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, mondo_top_grouping_integumentary_system_disorder, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, 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, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_integumentary_system_disorder

abbreviation
FNEPPK1 [ MONDO:Lexical ]

exactMatch

https://omim.org/entry/613000

http://purl.obolibrary.org/obo/DOID_0111709

http://identifiers.org/medgen/1644485

http://linkedlifedata.com/resource/umls/id/C4552049

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0006588

has related synonym

Ppkfne

FNEPPK1

focal nonepidermolytic palmoplantar keratoderma

keratoderma, focal nonepidermolytic palmoplantar

id

MONDO:0013073

term tracker item

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

https://github.com/monarch-initiative/mondo/issues/3108

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

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