Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Retinal vascular changes with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Intestinal malabsorption with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Hematopoietic system disease with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Acute endocarditis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
Pneumocystosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Myelopathy with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Kaposi's sarcoma with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Bacterial pneumonia with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Salivary gland disease with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Progressive multifocal leucoencephalopathy with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Organic dementia with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Radiculitis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Nutritional deficiency with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Central nervous system demyelinating disease with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
Salmonella infection with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Organic brain syndrome with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Pneumococcal pneumonia with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Malaise with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Mycobacteriosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Dermatomycosis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Fatigue with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Subacute endocarditis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Histoplasmosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Presenile dementia with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Candidiasis of lung with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Disseminated candidiasis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Aplastic anemia with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
7 |
Hepatomegaly with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Subacute myocarditis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Primary lymphoma of brain with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
Agranulocytosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Myelitis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Skin disorder with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Cryptococcosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Subacute adenoviral encephalitis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Nocardiosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Infectious gastroenteritis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Retinopathy with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Viral pneumonia with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Dementia with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Tuberculosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Polyneuropathy with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Failure to thrive in infant with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Pneumonia with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Blindness with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Infective arthritis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Candidiasis of mouth with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Thrombocytopenia with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
5 |
Encephalopathy with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Respiratory disorder with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Strongyloidiasis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Myocarditis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Noninfectious gastroenteritis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
Central nervous disorder with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Neuritis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Encephalomyelitis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Herpes zoster with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Neuralgia with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Dyspnea with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Low vision with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Hyperhidrosis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Malignant neoplasm with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Coccidioidomycosis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Neutropenia with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Cholangitis with AIDS (acquired immunodeficiency syndrome) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Sepsis with acquired immunodeficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Infectious disease with acquired immune deficiency syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Complement component 8 deficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic, primary immunodeficiency disorder characterised by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, haemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinaemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anaemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare, and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Primary cerebral lymphoma co-occurrent with human immunodeficiency virus infection |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Leukocyte adhesion deficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Leucocyte adhesion deficiency - type 2 |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Functional disorder of polymorphonuclear neutrophil (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock, and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome (ARDS). |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Immune effector cell-associated neurotoxicity syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Autoinflammatory disease (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Familial Mediterranean fever |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Familial amyloid nephropathy with urticaria AND deafness |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
7 |
Familial cold urticaria |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Chronic infantile neurological, cutaneous and articular syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Hereditary periodic fever (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
TNF receptor-associated periodic fever syndrome (TRAPS) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
Cryopyrin associated periodic syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare, hereditary, immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Monogenic autoinflammatory syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
7 |
A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
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. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
5 |
A rare granulomatous autoinflammatory syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
Cytokine-associated toxicity (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |