| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Chronic lichenified atopic dermatitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic idiopathic thrombocytopenic purpura |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic idiopathic autoimmune hemolytic anemia |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Atopisk rinit |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Seasonal allergic rhinitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic allergic otitis media |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic neutrophilia |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Fibrous autoimmune thyroiditis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic bullous dermatosis of childhood |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic allergic otitis externa |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic granulomatous disease (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Cutaneous mastocytosis (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic benign neutropenia |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| autoimmun lymfocytær thyroidit |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Cyclical neutropenia |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic familial neutropaenia |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic idiopathic neutropenia (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Adult atopic dermatitis recurrent in adult life (disorder) |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Urticarial vasculitis with monoclonal IgM component, Schnitzler |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Eosinophilic esophagitis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Eosinophilic cellulitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Eosinophilic meningitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Eosinophilic colitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Eosinophilic gastritis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Eosinophilic keratitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| SLE glomerulonephritis syndrome, WHO class V |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic idiopathic monocytosis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic acquired pure red cell aplasia |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| 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. Presents with 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 |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Seasonal allergic conjunctivitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Recurrent allergic croup |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic localized pemphigoid |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic autoimmune hepatitis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic allergic conjunctivitis (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic allergic bronchitis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Acquired epidermolysis bullosa |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Primary biliary cholangitis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Juvenile psoriatic arthritis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic migratory panniculitis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic erythema nodosum (disorder) |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13. |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic giant papillary conjunctivitis of right eye |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic giant papillary conjunctivitis of left eye |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Progressive systemic sclerosis (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Hashimoto thyroiditis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Relapsing polychondritis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic meningococcaemia |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| recidiverende Salmonella-septikæmi |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Progressive multiple sclerosis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Lichenoid allergic contact dermatitis |
Is a |
True |
Chronic disease of immune function (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 |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Thunderstorm asthma (disorder) |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Acute relapsing multiple sclerosis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Episodic angioedema with eosinophilia (disorder) |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic autoimmune urticaria (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Generalised pustular psoriasis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Familial cold urticaria |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Necrobiotic xanthogranuloma with paraproteinemia (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Persistent neonatal myasthenia gravis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic idiopathic immunoneutropenia in adult (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Late chronic graft versus host disease is defined as presence of symptoms and signs 100 days after an allogenic transplant. |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic arthritis due to and following rheumatic fever (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Recurrent rheumatic heart disease |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Recurrent rheumatic fever |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Juvenile seropositive polyarthritis (disorder) |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Recurrent salmonella sepsis co-occurrent with human immunodeficiency virus infection |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Acute on chronic graft-versus-host disease (disorder) |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic rheumatic pericarditis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic rheumatic carditis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic rheumatoid nodular fibrosis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Rheumatoid factor negative and anti-citrullinated protein antibody negative juvenile polyarthritis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Rheumatoid factor negative and anti-citrullinated protein antibody positive juvenile polyarthritis |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Juvenile idiopathic arthritis (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic graft-versus-host disease (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic graft versus host disease after transplantation of bone marrow |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic ulcerative colitis (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Autoantibody negative autoimmune hepatitis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic papillary vernal conjunctivitis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Hereditary periodic fever (disorder) |
Is a |
False |
Chronic disease of immune function (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 |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. |
Is a |
True |
Chronic disease of immune function (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 |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Chronic benign granulocytopenia |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Brachial variant of chronic immune demyelinating polyradiculoneuropathy (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Bronchiolitis obliterans syndrome due to and after lung transplantation (disorder) |
Is a |
False |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Severe persistent asthma uncontrolled co-occurrent with allergic rhinitis |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
| Mild persistent asthma uncontrolled co-occurrent with allergic rhinitis (disorder) |
Is a |
True |
Chronic disease of immune function (disorder) |
Inferred relationship |
Some |
|
FHIR