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
Term information
- OMIM:167210 (MONDO:equivalentTo)
- UMLS:C1721007 (MONDO:equivalentTo)
- GARD:15103 (MONDO:GARD)
- MEDGEN:314107 (MONDO:equivalentTo)
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
http://identifiers.org/medgen/314107
http://linkedlifedata.com/resource/umls/id/C1721007
https://omim.org/entry/167210
pachyonychia congenita, Jackson-Lawler type, formerly
PC2
pachyonychia congenita, Jackson-Lawler type