[X] TREX1-related type 1 interferonopathy
Go to external page http://purl.obolibrary.org/obo/MONDO_0700256
Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. [ https://clinicalgenome.org/affiliation/40107/ https://clinicalgenome.org/affiliation/40060/ https://clinicalgenome.org/affiliation/40123/ ]
Term information
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, harrisons_view_connective_tissue_disorder, matrix_excluded, matrix_llm__tag_qualy_lost_other, 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_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_connective_tissue_disorder, mondo_top_grouping_syndromic_disease