Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Severe fever with thrombocytopenia syndrome (SFTS) is a newly emerging infectious disease. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
A rare genetic familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Febrile neutropenia (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Febrile urinary tract infection |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
1 |
Familial Mediterranean fever |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Familial amyloid nephropathy with urticaria AND deafness |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
6 |
Familial cold urticaria |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
4 |
Chronic infantile neurological, cutaneous and articular syndrome |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Hereditary periodic fever (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Febrile ulceronecrotic pityriasis lichenoides acuta (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
TNF receptor-associated periodic fever syndrome (TRAPS) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Cryopyrin associated periodic syndrome (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized 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. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
A rare autoinflammatory syndrome with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
4 |
A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Myoclonus associated with fever |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
5 |
Macrophage activation syndrome due to juvenile systemic onset arthritis |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Hyperthermia (disorder) |
Interprets |
True |
Body temperature (observable entity) |
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. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
6 |
Brazilian purpuric fever |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
5 |
Puerperal pyrexia |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Puerperal pyrexia of unknown origin |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
puerperal pyreksi af ukendt oprindelse, barn født med postnatal komplikation |
Interprets |
False |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Puerperal pyreksi af ukendt oprindelse med postnatal komplikation |
Interprets |
False |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Oral temperature |
Is a |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
|
A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
1 |
Classical type acute febrile neutrophilic dermatosis |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Acute febrile neutrophilic dermatosis due to neoplastic disease |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
4 |
Acute febrile neutrophilic dermatosis of hand (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia miyamotoi |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Relapsing fever caused by Borrelia latyschewii (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia hermsii |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia venezuelensis |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia mazzottii (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia hispanica |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia duttonii (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia parkeri (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia persica |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Relapsing fever caused by Borrelia caucasica (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Mycoplasmal postpartum fever |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of left knee (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of right knee |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of bilateral knees |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
5 |
Systemic onset juvenile idiopathic arthritis of knee (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of left ankle |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right ankle (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of ankle |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral ankles |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of left foot |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of foot (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right foot (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral feet |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of left hand (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right hand (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral hands |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of hand |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of joint of left shoulder region (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of joint of right shoulder region (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of joint of bilateral shoulder regions (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of joint of shoulder region (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right hip (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of hip |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of left hip (disorder) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral hips (disorder) |
Interprets |
True |
Body temperature (observable entity) |
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. |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
3 |
Recurrent fever (finding) |
Interprets |
True |
Body temperature (observable entity) |
Inferred relationship |
Some |
1 |