Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Superior limbic keratoconjunctivitis of bilateral eyes (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
6 |
Superior limbic keratoconjunctivitis of left eye (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Superior limbic keratoconjunctivitis of right eye (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
The reactivation of latent hepatitis C infection usually caused by a medicinal agent, such as an immunosuppressant. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Chronic recurrent pilonidal cyst (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Familial Mediterranean fever |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Familial amyloid nephropathy with urticaria AND deafness |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
5 |
Familial cold urticaria |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Chronic infantile neurological, cutaneous and articular syndrome |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Hereditary periodic fever (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
TNF receptor-associated periodic fever syndrome (TRAPS) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Cryopyrin associated periodic syndrome (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
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. |
Clinical course |
True |
Recurrent |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Recurrent primary malignant neoplasm of vagina |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent ventricular septal defect following procedure (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent peritonsillar abscess |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent angina status post coronary artery bypass graft (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent angina status post directional coronary atherectomy (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent angina status post percutaneous transluminal coronary angioplasty (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent angina status post rotational atherectomy (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent angina following placement of coronary artery stent (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Behcet disease of eye |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Behcet disease of skin (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent infection due to specific granule deficiency |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
1 |
Recurrent infection due to immunoglobulin isotype deficiency (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
1 |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
1 |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Benign intrahepatic cholestasis type 2 |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Hereditary paediatric Behçet-like disease |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent anterior uveitis |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Behçet disease of small intestine |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
6 |
Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterised by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent bleeding of nose |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Stuttering priapism |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent herpes simplex infection of eye (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent infection of cornea caused by human herpes simplex virus (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent inflammation of cornea caused by human herpes simplex virus (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent isolated sleep paralysis |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
1 |
Nongenital recurrent herpes simplex (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Relapsing febrile nodular nonsuppurative panniculitis |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Ligneous conjunctivitis (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Ligneous conjunctivitis of left eye (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Ligneous conjunctivitis of bilateral eyes (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
7 |
Right ligneous conjunctivitis |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent venous ulcer of lower leg (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent venous ulcer of lower limb |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of prosthesis of left hip joint (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of prosthesis of right hip joint (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
7 |
Obstructed recurrent inguinal hernia (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Obstructed recurrent femoral hernia |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Obstructed recurrent irreducible bilateral inguinal hernia (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
5 |
Recurrent femoral hernia with gangrene (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Recurrent glomerulonephritis following transplantation of kidney (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent malignant neoplasm |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent phimosis |
Clinical course |
True |
Recurrent |
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. |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent cholesteatoma of left mastoid cavity (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent cholesteatoma of right mastoid cavity (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent colitis caused by Clostridium difficile (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent diarrhea caused by Clostridium difficile |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent cervicitis caused by human herpes simplex virus (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent stress incontinence (finding) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Lipogranulomatosis subcutanea of Rothmann and Makai |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
4 |
Recurrent infectious disease (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
1 |
Papillomatosis of trachea (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of left foot joint |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of right foot (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of bilateral feet (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of left ankle joint |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of right ankle (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of bilateral ankles (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of joint of bilateral knees (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of joint of right knee (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of left knee (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of left hip (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of bilateral hips (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of joint of right hip (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of right hand (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of bilateral hand joints |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of joint of left hand (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of bilateral elbows (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of left elbow |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of right elbow |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of bilateral wrist regions (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |
Recurrent dislocation of joint of left wrist region (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Recurrent dislocation of joint of right wrist region |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
2 |
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Clinical course |
True |
Recurrent |
Inferred relationship |
Some |
3 |