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/ ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C5394397 (MONDO:equivalentTo)
  • Orphanet:477647 (MONDO:equivalentTo)
  • GARD:21957 (MONDO:GARD)
  • MEDGEN:1712223 (MONDO:equivalentTo)
Subsets

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

exactMatch

http://identifiers.org/medgen/1712223

http://linkedlifedata.com/resource/umls/id/C5394397

http://www.orpha.net/ORDO/Orphanet_477647

id

MONDO:0700264

term tracker item

https://github.com/monarch-initiative/mondo/issues/7365

Term relations