Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: pachyonychia congenita type 2 pachyonychia congenita 2 KRT17 pachyonychia congenita pachyonychia congenita caused by mutation in KRT17

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, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_included, nord_rare, 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
PC2 [ MONDO:Lexical ]

exactMatch

http://identifiers.org/medgen/314107

http://linkedlifedata.com/resource/umls/id/C1721007

https://omim.org/entry/167210

has related synonym

pachyonychia congenita, Jackson-Lawler type, formerly

PC2

pachyonychia congenita, Jackson-Lawler type

id

MONDO:0008174