{ "id": 8586, "label": "autoimmune disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0007179", "properties": { "xrefs": [ "DOID:417", "EFO:0005809", "ICD9:279.4", "ICD9:279.49", "ICD9:720", "MEDGEN:2135", "MESH:D001327", "NCIT:C2889", "OBI:1110054", "OMIM:109100", "SCTID:85828009", "UMLS:C0004364" ], "synonyms": [ "autoimmune disease", "autoimmune disease or disorder", "autoimmune disorder", "disease, autoimmune", "autoimmune hypersensitivity disease", "hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." }, "isLeaf": false, "isRoot": false, "child_count": 47, "parents": [ { "id": 6778, "label": "immune system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2914", "EFO:0000540", "ICD9:279", "ICD9:279.1", "ICD9:279.10", "ICD9:279.19", "ICD9:279.4", "ICD9:279.49", "ICD9:279.8", "ICD9:279.9", "MEDGEN:5759", "MESH:D007154", "NANDO:1100004", "NANDO:2100202", "NCIT:C3507", "SCTID:414029004", "UMLS:C0021053" ], "synonyms": [ "disease of immune system", "disease or disorder of immune system", "disorder of immune system", "immune disease", "immune disorder", "immune dysfunction", "immune system disease or disorder", "immune system disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disorder resulting from an abnormality in the immune system." }, "child_count": 47, "reference_id": "MONDO:0005046" } ], "children": [ { "id": 2772, "label": "autoimmune disease, multisystem, infantile-onset", "isLeaf": false, "isRoot": false, "parents": [ 5714, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061159", "OMIMPS:615952" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0000213" }, { "id": 2997, "label": "autoimmune disorder of endocrine system", "isLeaf": false, "isRoot": false, "parents": [ 6875, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060005", "ICD9:279.49", "MEDGEN:575099", "SCTID:237822008", "UMLS:C0342552" ], "synonyms": [ "endocrine system autoimmune disease", "endocrine system hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the endocrine system." }, "child_count": 26, "reference_id": "MONDO:0000569" }, { "id": 3002, "label": "autoimmune disorder of exocrine system", "isLeaf": false, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060029" ], "synonyms": [ "exocrine system autoimmune disease", "exocrine system hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the exocrine system." }, "child_count": 3, "reference_id": "MONDO:0000586" }, { "id": 3003, "label": "autoimmune disease of ear, nose and throat", "isLeaf": false, "isRoot": false, "parents": [ 8586, 21538 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060030" ], "synonyms": [ "autoimmune otorhinolaryngologic disease", "autoimmune disease of eyes, ear, nose and throat" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "An autoimmune form of otorhinolaryngologic disease." }, "child_count": 14, "reference_id": "MONDO:0000587" }, { "id": 3004, "label": "autoimmune disorder of gastrointestinal tract", "isLeaf": false, "isRoot": false, "parents": [ 6151, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060031" ], "synonyms": [ "alimentary part of gastrointestinal system autoimmune disease", "alimentary part of gastrointestinal system hypersensitivity reaction type II disease", "autoimmune disease of alimentary part of gastrointestinal system" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." }, "child_count": 14, "reference_id": "MONDO:0000588" }, { "id": 3005, "label": "autoimmune disorder of musculoskeletal system", "isLeaf": false, "isRoot": false, "parents": [ 4222, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060032" ], "synonyms": [ "musculoskeletal system autoimmune disease", "musculoskeletal system hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the musculoskeletal system." }, "child_count": 6, "reference_id": "MONDO:0000589" }, { "id": 3016, "label": "autoimmune disorder of blood", "isLeaf": false, "isRoot": false, "parents": [ 7217, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060050" ], "synonyms": [ "blood autoimmune disease", "blood hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the blood." }, "child_count": 4, "reference_id": "MONDO:0000602" }, { "id": 3017, "label": "autoimmune disorder of cardiovascular system", "isLeaf": false, "isRoot": false, "parents": [ 6736, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060051" ], "synonyms": [ "cardiovascular system autoimmune disease", "cardiovascular system hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the cardiovascular system." }, "child_count": 12, "reference_id": "MONDO:0000603" }, { "id": 3758, "label": "phacolytic glaucoma", "isLeaf": true, "isRoot": false, "parents": [ 3759, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12570", "ICD9:365.51", "MEDGEN:508901", "SCTID:32893002", "UMLS:C0152137", "icd11.foundation:1566213590" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens." }, "child_count": 0, "reference_id": "MONDO:0001553" }, { "id": 3825, "label": "Jaccoud syndrome", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13080", "ICD9:714.4", "MEDGEN:508877", "SCTID:84801008", "UMLS:C0152084" ], "synonyms": [ "Jaccoud's syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0001629" }, { "id": 4981, "label": "autoimmune disorder of the nervous system", "isLeaf": false, "isRoot": false, "parents": [ 6799, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:438", "MEDGEN:155946", "MESH:D020274", "NCIT:C99383", "UMLS:C0751871" ], "synonyms": [ "autoimmune disease of nervous system", "autoimmune disease, neurologic", "autoimmune diseases, nervous system", "autoimmune diseases, neurologic", "autoimmune disorders of the nervous system", "autoimmune disorders, nervous system", "autoimmune nervous system diseases", "autoimmune nervous system disorder", "disease, neurologic autoimmune", "diseases, neurologic autoimmune", "immune diseases, nervous system", "immune disorders, nervous system", "nervous system autoimmune disease", "nervous system autoimmune diseases", "nervous system hypersensitivity reaction type II disease", "nervous system immune diseases", "nervous system immune disorders", "neurologic autoimmune disease", "neurologic autoimmune diseases" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." }, "child_count": 8, "reference_id": "MONDO:0002977" }, { "id": 6454, "label": "lupus erythematosus", "isLeaf": false, "isRoot": false, "parents": [ 7203, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8857", "ICD10CM:L93", "ICD10WHO:L93", "ICD9:695.4", "MEDGEN:98043", "NCIT:C27153", "SCTID:200936003", "UMLS:C0409974", "icd11.foundation:1443317238" ], "synonyms": [ "lupus", "lupus erythematosus" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." }, "child_count": 6, "reference_id": "MONDO:0004670" }, { "id": 7102, "label": "anti-neutrophil antibody associated vasculitis", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0004826" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." }, "child_count": 0, "reference_id": "MONDO:0005435" }, { "id": 7222, "label": "cryoglobulinemia", "isLeaf": false, "isRoot": false, "parents": [ 4539, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2917", "EFO:0005846", "ICD10CM:D89.1", "ICD9:273.2", "MEDGEN:3673", "MESH:D003449", "NCIT:C26736", "SCTID:30911005", "UMLS:C0010403" ], "synonyms": [ "cryoglobulinemia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." }, "child_count": 2, "reference_id": "MONDO:0005576" }, { "id": 8166, "label": "CNS demyelinating autoimmune disease", "isLeaf": false, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000870", "MEDGEN:199756", "MESH:D020278", "UMLS:C0751873" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens." }, "child_count": 1, "reference_id": "MONDO:0006704" }, { "id": 8426, "label": "type III hypersensitivity disease", "isLeaf": false, "isRoot": false, "parents": [ 3018, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1557", "EFO:1001222", "MEDGEN:7021", "MESH:D007105", "MedDRA:10045265", "NCIT:C114346", "UMLS:C0020951" ], "synonyms": [ "disorder of type III hypersensitivity", "type 3 hypersensitivity reaction", "type III hypersensitivity", "type III hypersensitivity reaction", "hypersensitivity reaction type III disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." }, "child_count": 4, "reference_id": "MONDO:0007004" }, { "id": 9939, "label": "vitiligo", "isLeaf": false, "isRoot": false, "parents": [ 4496, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12306", "EFO:0004208", "ICD10CM:L80", "ICD10WHO:L80", "ICD9:709.01", "MEDGEN:22677", "MESH:D014820", "NCIT:C26915", "Orphanet:247871", "UMLS:C0042900", "icd11.foundation:1894744640" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." }, "child_count": 6, "reference_id": "MONDO:0008661" }, { "id": 10542, "label": "anti-glomerular basement membrane disease", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9808", "EFO:0007290", "GARD:0002551", "ICD9:446.21", "MEDGEN:140788", "MESH:D019867", "MedDRA:10018620", "NANDO:1200717", "NANDO:1200718", "NANDO:2200125", "NCIT:C84566", "NORD:1198", "OMIM:233450", "Orphanet:375", "SCTID:236432001", "UMLS:C0403529", "icd11.foundation:591736785" ], "synonyms": [ "Goodpasture Syndrome", "Goodpasture syndrome", "anti-GBM syndrome", "anti-glomerular basement membrane disease", "anti-glomerular basement membrane antibody disease", "glomerulonephritis - pulmonary haemorrhage", "glomerulonephritis - pulmonary hemorrhage", "pulmonary renal syndrome", "rapidly progressive glomerulonephritis with pulmonary haemorrhage", "rapidly progressive glomerulonephritis with pulmonary hemorrhage" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." }, "child_count": 0, "reference_id": "MONDO:0009303" }, { "id": 13626, "label": "autoimmune pulmonary alveolar proteinosis", "isLeaf": true, "isRoot": false, "parents": [ 3655, 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007499", "MEDGEN:410079", "MESH:C567049", "NANDO:1200747", "NANDO:1200748", "NORD:1633", "OMIM:610910", "Orphanet:747", "SCTID:707443007", "UMLS:C1970472", "icd11.foundation:676409940" ], "synonyms": [ "APAP", "Pulmonary Alveolar Proteinosis", "autoimmune PAP", "iPAP", "idiopathic PAP", "idiopathic pulmonary alveolar proteinosis", "PAP", "PAP acquired", "Pap, acquired", "acquired pulmonary alveolar proteinosis", "pulmonary alveolar lipoproteinosis acquired", "pulmonary alveolar lipoproteinosis, acquired", "pulmonary alveolar proteinosis acquired", "pulmonary alveolar proteinosis autoimmune", "pulmonary alveolar proteinosis, acquired", "pulmonary alveolar proteinosis, autoimmune" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." }, "child_count": 0, "reference_id": "MONDO:0012579" }, { "id": 14311, "label": "Reynolds syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004697", "MEDGEN:450547", "OMIM:613471", "Orphanet:779", "SCTID:715401008", "UMLS:C0748397", "icd11.foundation:1409844299" ], "synonyms": [ "Reynolds syndrome", "primary biliary cirrhosis and systemic scleroderma", "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." }, "child_count": 0, "reference_id": "MONDO:0013276" }, { "id": 17132, "label": "overlapping connective tissue disease", "isLeaf": false, "isRoot": false, "parents": [ 5762, 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020696", "MedDRA:10027754", "Orphanet:251312" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0016663" }, { "id": 17610, "label": "tempi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010962", "MEDGEN:886502", "NCIT:C121656", "Orphanet:284227", "SCTID:718614004", "UMLS:C3854394" ], "synonyms": [ "telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome", "telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." }, "child_count": 0, "reference_id": "MONDO:0017286" }, { "id": 17611, "label": "immunoglobulin G4-related sclerosing disease", "isLeaf": false, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080356", "GARD:0012521", "MEDGEN:473761", "MedDRA:10071569", "NANDO:1200923", "NANDO:1200924", "NCIT:C95992", "Orphanet:284264", "Orphanet:596448", "UMLS:C3203653", "icd11.foundation:99883782" ], "synonyms": [ "IgG4-RD", "IgG4-related disease", "IgG4-related sclerosing disease", "IgG4-related systemic disease", "immunoglobulin G4-related sclerosing disease", "IgG4-associated disease", "IgG4-positive multiorgan lymphoproliferative syndrome", "IgG4-related autoimmune disease", "IgG4-related systemic sclerosing disease", "IgG4-syndrome", "hyper-IgG4 disease", "multifocal fibrosclerosis", "multifocal idiopathic fibrosclerosis", "systemic IgG4-related plasmacytic syndrome", "systemic IgG4-related sclerosing syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." }, "child_count": 14, "reference_id": "MONDO:0017287" }, { "id": 17992, "label": "rheumatic fever", "isLeaf": true, "isRoot": false, "parents": [ 7203, 8586, 20720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1586", "EFO:1001160", "GARD:0005699", "ICD10CM:I00-I02", "ICD9:390", "ICD9:390-392", "MEDGEN:48448", "MESH:D012213", "MedDRA:10039054", "NCIT:C34984", "NORD:1668", "Orphanet:3099", "SCTID:58718002", "UMLS:C0035436" ], "synonyms": [ "ARF", "acute rheumatic fever", "inflammatory rheumatism" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." }, "child_count": 0, "reference_id": "MONDO:0017767" }, { "id": 18142, "label": "autoerythrocyte sensitization syndrome", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006481", "ICD9:287.2", "MEDGEN:90141", "MESH:C535645", "Orphanet:324636", "SCTID:275446004", "UMLS:C0301928" ], "synonyms": [ "GDS", "Gardner-Diamond syndrome", "painful bruising syndrome", "psychogenic purpura", "Autoerythrocyte sensitization", "Autoerythrocyte sensitization purpura" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017943" }, { "id": 18157, "label": "autoimmune lymphoproliferative syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4539, 8586, 17033, 20301 ], "type_id": 0, "properties": { "xrefs": [ "CSP:1560-5548", "DOID:6688", "GARD:0008686", "ICD10CM:D89.82", "MESH:D056735", "MedDRA:10069521", "NANDO:1200352", "NANDO:2200726", "NCIT:C37864", "Orphanet:3261", "icd11.foundation:1072688797" ], "synonyms": [ "ALPS", "ALPS (autoimmune lymphoproliferative syndrome)", "Canale-Smith syndrome", "FAS deficiency", "autoimmune lymphoproliferative syndrome type 1, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." }, "child_count": 36, "reference_id": "MONDO:0017979" }, { "id": 18439, "label": "secondary neonatal autoimmune disease", "isLeaf": false, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021643", "MEDGEN:1842254", "Orphanet:398091", "UMLS:C5680041" ], "synonyms": [ "Transplacentally acquired neonatal autoimmune disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0018356" }, { "id": 18722, "label": "euthyroid Graves orbitopathy", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081120", "GARD:0021940", "MEDGEN:1803712", "Orphanet:466682", "UMLS:C5680004" ], "synonyms": [ "euthyroid Graves ophthalmopathy" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018756" }, { "id": 18770, "label": "Kimura disease", "isLeaf": true, "isRoot": false, "parents": [ 4199, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7365", "EFO:1000722", "GARD:0006835", "MEDGEN:46183", "MESH:D000082242", "MESH:D000796", "MedDRA:10048640", "NCIT:C26867", "Orphanet:482", "UMLS:C0033838", "Wikipedia:Kimura's_disease", "icd11.foundation:1229046951" ], "synonyms": [ "Kimura's disease", "eosinophilic lymphogranuloma", "angiolymphoid hyperplasia with eosinophilia", "eosinophilic granuloma of soft tissue", "eosinophilic hyperplastic lymphogranuloma", "eosinophilic lymphofollicular granuloma", "eosinophilic lymphofolliculosis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." }, "child_count": 0, "reference_id": "MONDO:0018830" }, { "id": 18985, "label": "autoimmune thrombocytopenia", "isLeaf": false, "isRoot": false, "parents": [ 4196, 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018906", "MEDGEN:116621", "MedDRA:10050245", "Orphanet:71203", "SCTID:128091003", "UMLS:C0242584" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An autoimmune form of thrombocytopenia." }, "child_count": 4, "reference_id": "MONDO:0019098" }, { "id": 19177, "label": "autoimmune bullous skin disease", "isLeaf": false, "isRoot": false, "parents": [ 4496, 8092, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8502", "EFO:0008598", "GARD:0019028", "ICD9:694.8", "ICD9:694.9", "MEDGEN:1842418", "Orphanet:79669", "SCTID:7231009", "UMLS:C5681494" ], "synonyms": [ "bullous skin disease", "bullous dermatosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune disease characterized by blisters on the skin." }, "child_count": 33, "reference_id": "MONDO:0019337" }, { "id": 19180, "label": "scleroderma", "isLeaf": false, "isRoot": false, "parents": [ 7203, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:419", "EFO:1001993", "GARD:0018705", "HP:0100324", "MEDGEN:3770", "MedDRA:10039710", "NCIT:C26746", "Orphanet:801", "UMLS:C0011644" ], "synonyms": [ "scleroderma", "scleroderma (disease)" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Scleroderma is 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)." }, "child_count": 6, "reference_id": "MONDO:0019340" }, { "id": 19220, "label": "Susac syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8586 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001856", "GARD:0007713", "ICD9:348.39", "MEDGEN:439270", "MESH:D055955", "MedDRA:10071573", "NCIT:C116363", "NORD:1747", "Orphanet:838", "SCTID:702575003", "UMLS:C2717757", "icd11.foundation:1292480458" ], "synonyms": [ "RED-M", "Retinocochleocerebral vasculopathy", "SICRET syndrome", "retinopathy-encephalopathy-deafness associated with microangiopathy", "small infarctions of cochlear, retinal and encephalic tissue", "SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." }, "child_count": 0, "reference_id": "MONDO:0019390" }, { "id": 19337, "label": "undifferentiated connective tissue syndrome", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019097", "MEDGEN:592754", "MedDRA:10071575", "NCIT:C116776", "Orphanet:90002", "SCTID:239918008", "UMLS:C0409999" ], "synonyms": [ "UCTD", "undifferentiated connective tissue disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." }, "child_count": 0, "reference_id": "MONDO:0019527" }, { "id": 21708, "label": "type II hypersensitivity reaction disease", "isLeaf": true, "isRoot": false, "parents": [ 3018, 8586 ], "type_id": 0, "properties": { "synonyms": [ "disorder of type II hypersensitivity", "type II hypersensitivity disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disease that has its basis in the disruption of type II hypersensitivity." }, "child_count": 0, "reference_id": "MONDO:0025512" }, { "id": 21709, "label": "autoimmune urticaria", "isLeaf": true, "isRoot": false, "parents": [ 7148, 8586 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:708.8", "MEDGEN:725554", "SCTID:402397006", "UMLS:C1304191" ], "synonyms": [ "autoimmune urticaria", "autoimmune urticaria (disease)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune form of urticaria (disease)." }, "child_count": 0, "reference_id": "MONDO:0025513" }, { "id": 22007, "label": "autoimmune glomerulonephritis", "isLeaf": true, "isRoot": false, "parents": [ 4542, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0040094", "GARD:0025616", "MEDGEN:480533", "UMLS:C3278903" ], "synonyms": [ "autoimmune glomerulonephritis (disease)" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune form of glomerulonephritis (disease)." }, "child_count": 0, "reference_id": "MONDO:0030700" }, { "id": 24844, "label": "multisystem autoimmune disease due to IKAROS gain of function", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation." }, "child_count": 0, "reference_id": "MONDO:0800138" }, { "id": 24850, "label": "autoimmune pulmonary disease due to PD-1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli." }, "child_count": 0, "reference_id": "MONDO:0800144" }, { "id": 25140, "label": "non-specific autoimmune supratentorial encephalitis with characteristic antibodies", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022497", "MEDGEN:1842219", "Orphanet:624166", "UMLS:C5680408" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850102" }, { "id": 25141, "label": "non-specific autoimmune supratentorial encephalitis without characteristic antibodies", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022498", "MEDGEN:1843156", "Orphanet:624178", "UMLS:C5680409" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850103" }, { "id": 25143, "label": "non-specific autoimmune brainstem encephalitis with characteristic antibodies", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022500", "MEDGEN:1842903", "Orphanet:624199", "UMLS:C5680405" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850105" }, { "id": 25144, "label": "non-specific autoimmune brainstem encephalitis without characteristic antibodies", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022501", "MEDGEN:1843231", "Orphanet:624216", "UMLS:C5680407" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850106" }, { "id": 25146, "label": "non-specific autoimmune cerebellar ataxia with characteristic antibodies", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022503", "MEDGEN:1842300", "Orphanet:624259", "UMLS:C5680404" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850108" }, { "id": 25147, "label": "non-specific autoimmune cerebellar ataxia without characteristic antibodies", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022504", "MEDGEN:1843044", "Orphanet:624268", "UMLS:C5576703" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850109" }, { "id": 26135, "label": "autoimmune disease with susceptibility to mycobacterium tuberculosis", "isLeaf": true, "isRoot": false, "parents": [ 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061163", "MEDGEN:1875045", "OMIM:621004", "UMLS:C5975515" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975847" }, { "id": 29393, "label": "antiphospholipid syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2988", "EFO:0002689", "GARD:0005824", "ICD10CM:D68.61", "ICD9:279.49", "MEDGEN:38834", "MESH:D016736", "NCIT:C61283", "Orphanet:80", "SCTID:26843008", "UMLS:C0085278", "icd11.foundation:1173370808" ], "synonyms": [ "Hughes syndrome", "antiphospholipid antibody syndrome", "antiphospholipid syndrome", "familial lupus anticoagulant", "lupus anticoagulant, familial" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." }, "child_count": 8, "reference_id": "MONDO:8000010" } ], "roots": [ { "id": 6778, "label": "immune system disorder" } ] }