| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Nakajo-Nishimura syndrome |
Is a |
False |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| Monogenic autoinflammatory syndrome (disorder) |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. |
Is a |
True |
Autoinflammatory disease (disorder) |
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 |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| A rare granulomatous autoinflammatory syndrome characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| SAPHO syndrome |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| PAPASH syndrome |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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). |
Is a |
True |
Autoinflammatory disease (disorder) |
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 |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
| Behcet's syndrome |
Is a |
True |
Autoinflammatory disease (disorder) |
Inferred relationship |
Some |
|
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