Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. [ http://www.ncbi.nlm.nih.gov/pubmed/10583221 http://www.ncbi.nlm.nih.gov/pubmed/12437656 http://www.ncbi.nlm.nih.gov/pubmed/19633571 https://clinicalgenome.org/affiliation/40006/ MONDO:patterns/disease_series_by_gene http://www.ncbi.nlm.nih.gov/pubmed/14648217 ]
Synonyms: DKC1-related disorder
Term information
gard_rare, matrix_llm__is_cancer_other, matrix_txgnn_grouping_cancer_or_benign_tumor, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, rare, harrisons_view_integumentary_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, susceptibility_mondo, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease