Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cytokine-associated toxicity (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mouth and genital ulcers with inflamed cartilage syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ubiquitin specific peptidase 18 deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypopigmentation-immunodeficiency disease type 1 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypopigmentation-immunodeficiency disease type 1 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypopigmentation-immunodeficiency disease type 3 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypopigmentation-immunodeficiency disease type 3 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Wasting syndrome due to acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lymphoproliferative disorder caused by methotrexate |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leukocyte adhesion deficiency type 3 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glutathione synthase deficiency without 5-oxoprolinuria |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Common variable agammaglobulinaemia |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Common variable immunodeficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Immunodeficiency caused by long term therapeutic use of immunosuppressant (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Haploinsufficiency of A20 |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary paediatric Behçet-like disease |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glutathione synthase deficiency with 5-oxoprolinuria |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atypical haemolytic uraemic syndrome with complement gene abnormality |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorisation of the syndrome may be complicated due to the involvement of multiple genes. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adult onset Still's disease |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Schnitzler syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Urticarial vasculitis with monoclonal IgM component, Schnitzler |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
SAPHO syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Atypical hemolytic uremic syndrome with anti-factor H antibodies |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Type I interferonopathy |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aicardi Goutieres syndrome type 2 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Aicardi Goutieres syndrome type 3 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Aicardi Goutieres syndrome type 4 |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Aicardi Goutieres syndrome type 5 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Aicardi Goutieres syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Aicardi Goutieres syndrome type 1 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
STING-associated vasculopathy with onset in infancy |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive agammaglobulinemia |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal systemic lupus erythematosus (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Familial chilblain lupus erythematosus |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spondyloenchondrodysplasia |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Singleton-Merten syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Trichohepatoenteric syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondyloenchondrodysplasia with immune dysregulation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Keratitis fugax hereditaria |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
PAPASH syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
PASS syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare autoinflammatory syndrome with characteristics of the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora). |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive common variable immunodeficiency due to CD81 deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Common variable immunodeficiency due to transmembrane activator and calcium-modulator and cyclophilin ligand interactor deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked common variable immunodeficiency due to SH3 domain containing kinase binding protein 1 deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive common variable immunodeficiency due to CD21 mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant combined variable immunodeficiency due to tumor necrosis factor-like weak inducer of apoptosis mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant combined variable immunodeficiency due to NFKB1 mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive common variable immunodeficiency due to POU class 2 homeobox associating factor 1 mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive common variable immunodeficiency due to Rac family small GTPase 2 deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |