Inbound Relationships |
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Active |
Source |
Characteristic |
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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 |
Existential restriction modifier (core metadata concept) |
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STAT3-related early-onset multisystem autoimmune disease |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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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 |
Existential restriction modifier (core metadata concept) |
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Noninfectious enteritis due to autoimmune disease |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Non-infectious ulceration of small intestine due to autoimmune disease (disorder) |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autoimmune esophagitis |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Raynaud phenomenon due to autoimmune disease |
Due to |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autoimmune generalized polymyoclonus |
Is a |
False |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Inflammation of lacrimal gland due to Graves' disease (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune neuritis |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune peripheral motor neuropathy (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune inflammation of nerve root and/or plexus (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune sensory disorder of nerve (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune motor and sensory disorder of nerve (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune disorder of autonomic nervous system |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune cerebellar degeneration |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autoimmune movement disorder |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune disorder of spinal cord (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Antiphospholipid syndrome in pregnancy |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Limbic encephalitis with contactin-associated protein-like 2 antibodies (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Limbic encephalitis with neurexin-3 antibodies (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Autoimmune inflammation of cerebellum (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Interstitial pneumonitis with autoimmune features (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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Spondyloenchondrodysplasia with immune dysregulation (disorder) |
Is a |
True |
Autoimmune disease |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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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 |
Existential restriction modifier (core metadata concept) |
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