Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response. [ https://clinicalgenome.org/affiliation/40123/ https://clinicalgenome.org/affiliation/40060/ https://clinicalgenome.org/affiliation/40107/ ]
Term information
- UMLS:C5394397 (MONDO:equivalentTo)
- Orphanet:477647 (MONDO:equivalentTo)
- GARD:21957 (MONDO:GARD)
- MEDGEN:1712223 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, 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__medical_specialization_other, matrix_llm__txgnn_other, 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, mondo_top_grouping_connective_tissue_disorder, ordo_group_of_disorders, mondo_top_grouping_syndromic_disease
http://identifiers.org/medgen/1712223
http://linkedlifedata.com/resource/umls/id/C5394397
http://www.orpha.net/ORDO/Orphanet_477647