JSON

pachyonychia congenita 4

Go to external page http://purl.obolibrary.org/obo/MONDO_0014325

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: pachyonychia congenita caused by mutation in KRT6B pachyonychia congenita type 4 KRT6B pachyonychia congenita pachyonychia congenita 4

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, matrix_llm__is_cancer_other, 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, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_included, 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
PC4 [ MONDO:Lexical ]

exactMatch

http://linkedlifedata.com/resource/umls/id/C3714949

http://identifiers.org/medgen/811524

https://omim.org/entry/615728

id

MONDO:0014325