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pachyonychia congenita 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0008173

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

Synonyms: KRT16 pachyonychia congenita pachyonychia congenita 1 pachyonychia congenita caused by mutation in KRT16 pachyonychia congenita type 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, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_included, matrix_llm__tag_existing_treatment_other, 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
PC1 [ MONDO:Lexical ]

exactMatch

http://identifiers.org/snomedct/39427000

http://linkedlifedata.com/resource/umls/id/C1706595

https://omim.org/entry/167200

http://identifiers.org/medgen/353335

has related synonym

Jadassohn-Lewandowsky syndrome, formerly

pachyonychia congenita, Jadassohn-Lewandowsky type

Jadassohn-Lewandowsky syndrome

pachyonychia congenita, Jadassohn-Lewandowsky type, formerly

PC1

id

MONDO:0008173