| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Cytokine-associated toxicity (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare autoinflammatory syndrome with characteristics of the presence of features of relapsing polychondritis and Behcet disease in the same individual. This includes cartilage inflammation of the ears, nose, throat and rib cage as well as recurrent oral and genital ulcers respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, and central nervous system vasculitis or in rare cases arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behcet disease in the vast majority of cases. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
7 |
| Warts, hypogammaglobulinaemia, infections, and myelokathexis |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Hypopigmentation-immunodeficiency disease type 1 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Hypopigmentation-immunodeficiency disease type 1 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Hypopigmentation-immunodeficiency disease type 3 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Hypopigmentation-immunodeficiency disease type 3 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterised by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhoea or weakness and fever which have lasted at least 30 days and are not related to an infection. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A form of leucocyte adhesion deficiency characterised by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in haematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Glutathione synthase deficiency without 5-oxoprolinuria |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Common variable agammaglobulinemia |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Common variable immunodeficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Immunodeficiency caused by long term therapeutic use of immunosuppressant (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Haploinsufficiency of A20 |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Hereditary paediatric Behçet-like disease |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Glutathione synthase deficiency with 5-oxoprolinuria |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Atypical haemolytic uraemic syndrome with complement gene abnormality |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorization of the syndrome may be complicated due to the involvement of multiple genes. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Adult onset Still's disease |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
5 |
| Schnitzler syndrome (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Urticarial vasculitis with monoclonal IgM component, Schnitzler |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| SAPHO syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| Atypical haemolytic uraemic syndrome with anti-factor H antibodies |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Type I interferonopathy |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Aicardi Goutieres syndrome type 2 |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 3 |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 4 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 5 (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 1 |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| STING-associated vasculopathy with onset in infancy (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive agammaglobulinemia |
Finding site |
False |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
6 |
| A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Spondyloenchondrodysplasia |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Singleton-Merten syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Trichohepatoenteric syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Spondyloenchondrodysplasia with immune dysregulation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 ischaemic or haemorrhagic 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 |
Some |
1 |
| X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
4 |
| Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| PAPASH syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| A rare autoinflammatory syndrome with characteristics of a chronic-relapsing course of the combination of pyoderma gangrenosum, acne, hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on upper and lower limbs, back, and buttocks, among others), and ankylosing spondylitis. Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
3 |
| A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
2 |
| Autosomal recessive common variable immunodeficiency due to CD81 deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
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 |
Some |
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 |
Some |
1 |
| A rare autoinflammatory syndrome with immune deficiency characterised by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteraemia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
1 |
| Autosomal recessive common variable immunodeficiency due to CD21 mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
1 |
| Autosomal dominant combined variable immunodeficiency due to TWEAK mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Autosomal dominant combined variable immunodeficiency due to nuclear factor kappa B subunit 1 mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
1 |
| Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
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 |
Some |
1 |
| Autosomal recessive common variable immunodeficiency due to RAC2 deficiency |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
2 |
| A rare autoinflammatory syndrome characterized by nodular panniculitis, lipoatrophy, severe early-onset interstitial lung disease, and basal ganglia calcifications. Most patients have progressive isolated B-cell and natural killer cell cytopenias. Respiratory failure was also reported. |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis due to HOIP deficiency (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Behcet's syndrome |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
1 |
| Behcet's disease with organ/system involvement |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Behcet's disease with multisystem involvement |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Behcet's syndrome, vascular type |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Behcet's syndrome, complete type |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Behcet's syndrome, incomplete type |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Behcet's syndrome, neurologic type |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Behçet's disease affecting oral mucosa (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Behcet's syndrome, intestinal type |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Behçet disease of small intestine |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
| Behcet disease of eye |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Behcet disease of skin (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
4 |
| Demyelination of central nervous system due to Behcet disease (disorder) |
Finding site |
True |
Structure of immune system (body structure) |
Inferred relationship |
Some |
3 |
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