| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset extended oligoarthritis there is involvement of additional joints after the first six months of the disease, resulting in more than four joints being ultimately affected. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Juvenile idiopathic arthritis, undifferentiated arthritis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Polyarticular juvenile idiopathic arthritis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Juvenile seronegative polyarthritis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Acute polyarticular juvenile idiopathic arthritis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare inflammatory rheumatic disease characterised by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Polyarticular juvenile idiopathic arthritis |
Pathological process (attribute) |
False |
Autoimmune process |
Inferred relationship |
Some |
4 |
| Limbic encephalitis with neurexin-3 antibodies (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Juvenile psoriatic arthritis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Erythema multiforme due to bacterial infection (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Juvenile arthritis in ulcerative colitis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Juvenile arthritis of inflammatory bowel disease |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Juvenile arthritis in Crohn's disease (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
3 |
| Juvenile spondyloarthropathy (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Late onset polyarticular juvenile chronic arthritis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Diffuse interstitial rheumatoid disease of lung |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Autoimmune hypopituitarism (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Autoimmune male infertility |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Immunoglobulin G4 related hypophysitis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histopathological features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings and might be without systemic involvement or serum IgG4 elevation. Clinical manifestations are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| IgG4-related sclerosing cholangitis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune pancreatitis type 2 (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoantibody negative autoimmune hepatitis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Type 1 autoimmune pancreatitis with extrapancreatic involvement (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Myasthenia gravis in remission |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Autoimmune generalized polymyoclonus |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune interstitial keratitis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune retinitis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Concentric alopecia areata |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Alopecia areata (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Alopecia universalis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Diffuse alopecia areata |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Ophiasis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Circumscribed alopecia areata of scalp (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Circumscribed alopecia areata of eyelashes/eyebrows (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Circumscribed alopecia areata of beard area (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Circumscribed alopecia areata of limbs (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Circumscribed alopecia areata of trunk (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
3 |
| Alopecia areata of eyebrow (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Alopecia areata of eyelash |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with immunoglobulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Inflammation of lacrimal gland due to Graves' disease (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| 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. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
4 |
| A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE). |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune subepidermal bullous dermatosis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Dermatitis herpetiformis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Hydroa herpetiformis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Oral mucosal involvement by dermatitis herpetiformis (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Erythema multiforme major (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Erythema multiforme major (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune bullous dermatosis due to drug |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune primary ovarian failure |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Autoimmune thrombotic thrombocytopenic purpura (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
11 |
| Pretibial pemphigoid (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune inflammation of nerve (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune inflammation of brachial plexus (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune inflammation of nerve root and/or plexus (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune peripheral motor neuropathy (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune sensory ganglionopathy (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune disorder of autonomic nervous system (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune encephalitis caused by N-methyl-D-aspartate receptor antibody (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune cerebellar degeneration |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune acquired autonomic encephalomyelitis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune acquired autonomic encephalomyelitis |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Autoimmune inflammation of cerebellum (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune movement disorder |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Brachial variant of chronic immune demyelinating polyradiculoneuropathy (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Brachial variant of chronic immune demyelinating polyradiculoneuropathy (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Autoimmune sensorimotor neuropathy |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune sensory disorder of nerve (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune disorder of spinal cord (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Disorder of autonomic nerve due to Guillain-Barre Syndrome (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Autoimmune disorder of autonomic nerve (disorder) |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Limited autoimmune autonomic neuropathy |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare IgG4-related disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells, and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| A rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and sometimes other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract. The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction, which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms. |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
| Coup de sabre scleroderma |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
2 |
| Linear scleroderma |
Pathological process (attribute) |
True |
Autoimmune process |
Inferred relationship |
Some |
1 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]