autoimmune disease
MONDO:0007179Mondo
Findings
No curated finding names autoimmune disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).
Definition from the Mondo Disease Ontology (MONDO:0007179), read 2026-09-29. CC BY 4.0.
Genes
9 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IKZF1HGNC:13176
- Moderate · ClinGen · Autosomal dominant · 2022
- CCDC40HGNC:26090
- Limited · Ambry Genetics · Autosomal recessive · 2018
- PDCD1HGNC:8760
- Limited · ClinGen · Autosomal recessive · 2025
- PTPN22HGNC:9652
- Limited · PanelApp Australia · Autosomal dominant · 2025
- SIRT1HGNC:14929
- Limited · PanelApp Australia · Autosomal dominant · 2025
- SOCS1HGNC:19383
- Limited · Ambry Genetics · Autosomal dominant · 2020
- SOCS4HGNC:19392
- Limited · Ambry Genetics · Autosomal dominant · 2018
- NEIL3HGNC:24573
- Disputed Evidence · ClinGen · Autosomal recessive · 2025
- SMG7HGNC:16792
- No Known Disease Relationship · Illumina · Autosomal dominant · 2020
Where it sits
- A kind of
- Narrower terms (47)
- anti-glomerular basement membrane disease
- anti-neutrophil antibody associated vasculitis
- antiphospholipid syndrome
- autoerythrocyte sensitization syndrome
- autoimmune bullous skin disease
- autoimmune disease of ear, nose and throat
- autoimmune disease with susceptibility to mycobacterium tuberculosis
- autoimmune disease, multisystem, infantile-onset
- autoimmune disorder of blood
- autoimmune disorder of cardiovascular system
- autoimmune disorder of endocrine system
- autoimmune disorder of exocrine system
- autoimmune disorder of gastrointestinal tract
- autoimmune disorder of musculoskeletal system
- autoimmune disorder of the nervous system
- autoimmune glomerulonephritis
- autoimmune lymphoproliferative syndrome
- autoimmune pulmonary alveolar proteinosis
Other names
3 names
Resolves to: autoimmune disease
- Also called
- autoimmune disease or disorderautoimmune disorderdisease, autoimmune