| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Myelin oligodendrocyte glycoprotein antibody-associated disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Warts, hypogammaglobulinaemia, infections, and myelokathexis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare haematologic disease characterised by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinaemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal haemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Occlusion of microvasculature of skin caused by cryoglobulin type III (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Pustular psoriasis of palm and sole caused by drug (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Follicular psoriasis (disorder) |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Hypopigmentation-immunodeficiency disease type 1 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Hypopigmentation-immunodeficiency disease type 3 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Plaque psoriasis with pustules (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Castleman disease with immunoglobulin M monoclonal gammopathy of uncertain significance (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Autonomic disorder due to multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Autonomic disorder due to multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
9 |
| Lymphoproliferative disorder following transplantation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Lymphoproliferative disorder after transplantation of bone marrow (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Early post-transplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Infectious mononucleosis-like post-transplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Monomorphic posttransplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Reactive plasmacytic hyperplasia post-transplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Polymorphic lymphoproliferative disorder following transplant |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Graft versus host disease of intestine (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Glutathione synthase deficiency without 5-oxoprolinuria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Gamma heavy chain disease (clinical) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Heavy chain disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Mu heavy chain disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Aseptic peritoneal eosinophilia due to and following dialysis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Common variable agammaglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Common variable immunodeficiency with predominant immunoregulatory T-cell disorders |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Common variable immunodeficiency with autoantibodies to B- or T-cells |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Fanconi anemia of complementation group C |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
8 |
| Common variable immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Pancytopenia caused by colchicine (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
7 |
| Graft-versus-host disease following transplant of kidney (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Acute graft-versus-host disease following transplant of kidney (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Congenital cutaneous mastocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Immunodeficiency caused by long term therapeutic use of immunosuppressant (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Macrophage activation syndrome due to infectious disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Haploinsufficiency of A20 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Hereditary paediatric Behçet-like disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| Glutathione synthase deficiency with 5-oxoprolinuria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Atypical haemolytic uraemic syndrome with complement gene abnormality |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Adult onset Still's disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Schnitzler syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Urticarial vasculitis with monoclonal IgM component, Schnitzler |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| SAPHO syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Atypical haemolytic uraemic syndrome with anti-factor H antibodies |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Type I interferonopathy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Aicardi Goutieres syndrome type 2 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 3 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 4 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 5 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Aicardi Goutieres syndrome type 1 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| STING-associated vasculopathy with onset in infancy (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
5 |
| Autosomal recessive agammaglobulinemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| X-linked agammaglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Simple pulmonary eosinophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| Spondyloenchondrodysplasia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Singleton-Merten syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| Trichohepatoenteric syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
| A rare hypersensitivity reaction with characteristics of the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Fever, peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Onset usually occurs 1-12 days after administration of the causal medication and is most frequently associated with beta‐lactam antibiotics, macrolides (including pristinamycin and clindamycin), diltiazem, terbinafine, (hydroxy‐)chloroquine but many other medications have also been implicated. Histology reveals spongiform, subcorneal and/or intraepidermal, pustules but this pattern is not specific (same in pustular psoriasis). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
4 |
| Telangiectasia macularis eruptiva perstans |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
6 |
| A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
11 |
| A rare scleritis characterized by severe ocular inflammation of sclera associated with an underlying systemic inflammatory condition, most often rheumatoid arthritis, granulomatosis with polyangiitis, but also seronegative spondyloarthropathies, vasculitides and systemic lupus erythematosus. Ocular presentation is a tender or painful, violet-blueish eye, with injection of deep scleral vessels. It can be unilateral or bilateral. Immune-mediated scleritis is more often granulomatous and/or necrotizing. Systemic clinical signs depend on the underlying disease. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| Scleritis due to granulomatosis with polyangiitis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
3 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Some |
2 |
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