Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy. |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells. |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia. |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Noninfectious enteritis due to autoimmune disease (disorder) |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Some |
3 |
Non-infectious ulceration of small intestine due to autoimmune disease |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Some |
2 |
Autoimmune esophagitis |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Some |
2 |
Raynaud phenomenon due to autoimmune disease |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Some |
1 |
Autoimmune generalized polymyoclonus |
Is a |
False |
Autoimmune disease |
Inferred relationship |
Some |
|
A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia. |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Inflammation of lacrimal gland due to Graves' disease (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy. |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune inflammation of nerve (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune peripheral motor neuropathy (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune inflammation of nerve root and/or plexus (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune sensory disorder of nerve (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune sensorimotor neuropathy |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune disorder of autonomic nervous system (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune cerebellar degeneration |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune movement disorder |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune disorder of spinal cord (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Antiphospholipid syndrome in pregnancy |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Limbic encephalitis with contactin-associated protein-like 2 antibodies (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Limbic encephalitis with neurexin-3 antibodies (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Autoimmune inflammation of cerebellum (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Interstitial pneumonitis with autoimmune features |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections. |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
Spondyloenchondrodysplasia with immune dysregulation |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|
A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy. |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Some |
|