{ "id": 19503, "label": "autoinflammatory syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019751", "properties": { "xrefs": [ "DOID:0051000", "ICD10CM:M04-M04", "MEDGEN:855741", "MedDRA:10072220", "NANDO:2100156", "NCIT:C119050", "Orphanet:93665", "UMLS:C3890737" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." }, "isLeaf": false, "isRoot": false, "child_count": 37, "parents": [ { "id": 4370, "label": "syndromic disease", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "child_count": 1182, "reference_id": "MONDO:0002254" }, { "id": 7203, "label": "rheumatic disorder", "isLeaf": false, "isRoot": false, "parents": [ 5762 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1575", "EFO:0005755", "ICD9:729.0", "MEDGEN:3157", "MESH:D012216", "NANDO:2100151", "NANDO:2100152", "NCIT:C27204", "SCTID:396332003", "UMLS:C0009326", "Wikipedia:Rheumatism" ], "synonyms": [ "rheumatic disease", "rheumatologic disorder", "collagen disease", "collagen vascular disease", "connective tissue disease", "disease, rheumatic", "diseases, rheumatic", "enthesopathies", "enthesopathy", "inflammatory rheumatism", "musculoskeletal pain disorder", "rheumatism" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." }, "child_count": 30, "reference_id": "MONDO:0005554" } ], "children": [ { "id": 8714, "label": "cherubism", "isLeaf": false, "isRoot": false, "parents": [ 2903, 6893, 16089, 16218, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1856", "GARD:0006036", "ICD9:526.89", "MEDGEN:40219", "MESH:D002636", "MedDRA:10070535", "NANDO:2200444", "NCIT:C84630", "OMIM:118400", "Orphanet:184", "SCTID:76098004", "UMLS:C0008029", "icd11.foundation:1729261719" ], "synonyms": [ "CRBM", "cherubism", "familial fibrous dysplasia of the jaws", "familial multilocular cystic disease of the jaws", "Crbm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." }, "child_count": 6, "reference_id": "MONDO:0007315" }, { "id": 11021, "label": "chronic recurrent multifocal osteomyelitis", "isLeaf": false, "isRoot": false, "parents": [ 6951, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060645", "GARD:0006108", "HP:0002754", "ICD10CM:M86.3", "MEDGEN:140822", "MESH:C535456", "NANDO:1200869", "NANDO:2200438", "NCIT:C119042", "OMIMPS:609628", "Orphanet:324964", "SCTID:240151005", "UMLS:C0410422", "icd11.foundation:1256384247" ], "synonyms": [ "CNO/CRMO", "CRMO", "NBO", "chronic multifocal osteomyelitis", "chronic recurrent multifocal osteomyelitis", "chronic recurrent multifocal osteomyelitis (disease)", "non-bacterial osteomyelitis", "CMO", "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis", "multifocal osteomyelitis, chronic", "osteomyelitis, chronic multifocal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." }, "child_count": 9, "reference_id": "MONDO:0009813" }, { "id": 11045, "label": "Pelger-Huet-like anomaly and episodic fever with abdominal pain", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061077", "GARD:0024698", "MEDGEN:376692", "MESH:C564899", "OMIM:260570", "UMLS:C1850054" ], "synonyms": [ "Pelger-Huet-like anomaly and episodic fever with abdominal pain", "immunodeficiency 108 with autoinflammation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε." }, "child_count": 0, "reference_id": "MONDO:0009842" }, { "id": 12566, "label": "pyogenic arthritis-pyoderma gangrenosum-acne syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080519", "GARD:0009176", "MEDGEN:346801", "MESH:C536253", "NANDO:1200868", "NANDO:2200437", "NCIT:C119055", "OMIM:604416", "Orphanet:69126", "SCTID:724015007", "UMLS:C1858361" ], "synonyms": [ "FRA", "PAPA", "familial recurrent arthritis", "fra", "papa", "papa syndrome", "Papas", "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne", "pyogenic arthritis, pyoderma gangrenosum and acne", "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." }, "child_count": 0, "reference_id": "MONDO:0011462" }, { "id": 14651, "label": "psoriasis 14, pustular", "isLeaf": true, "isRoot": false, "parents": [ 19129, 19503, 21247, 24217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080474", "GARD:0017679", "ICD9:696.1", "MEDGEN:581114", "NANDO:1200244", "NANDO:2200452", "NCIT:C119057", "OMIM:614204", "Orphanet:163931", "Orphanet:404546", "SCTID:83839005", "UMLS:C0392439" ], "synonyms": [ "palmoplantar pustulosis", "DITRA", "IL36RN psoriasis", "Interleukin 36 receptor antagonist deficiency", "PSORP", "PSORS14", "acrodermatitis continua of Hallopeau", "acrodermatitis continua suppurativa of Hallopeau", "deficiency of IL-36R antagonist", "deficiency of IL-36Ra", "deficiency of the interleukin-36 receptor antagonist", "familial generalised pustular psoriasis", "psoriasis 14, pustular", "psoriasis caused by mutation in IL36RN", "GPP", "generalised pustular psoriasis", "generalized pustular psoriasis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." }, "child_count": 0, "reference_id": "MONDO:0013626" }, { "id": 14955, "label": "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070615", "GARD:0017486", "MEDGEN:766875", "NANDO:2200442", "NANDO:2200451", "OMIM:614878", "Orphanet:324530", "UMLS:C3553961" ], "synonyms": [ "APLAID", "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013944" }, { "id": 16077, "label": "periodic fever syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019812", "MEDGEN:855463", "MedDRA:10034533", "NCIT:C118240", "Orphanet:101995", "UMLS:C3889979" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Fevers of unknown etiology recurring over months or years." }, "child_count": 3, "reference_id": "MONDO:0015137" }, { "id": 17130, "label": "infantile onset panniculitis with uveitis and systemic granulomatosis", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020694", "MEDGEN:1670295", "Orphanet:251304", "UMLS:C4750785", "icd11.foundation:1145994427" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0016661" }, { "id": 17131, "label": "idiopathic recurrent pericarditis", "isLeaf": true, "isRoot": false, "parents": [ 19503, 24405 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020695", "MEDGEN:1642945", "Orphanet:251307", "SCTID:766704005", "UMLS:C4707790" ], "synonyms": [ "idiopathic relapsing pericarditis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." }, "child_count": 0, "reference_id": "MONDO:0016662" }, { "id": 17651, "label": "pyoderma gangrenosum-acne-suppurative hidradenitis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021139", "MEDGEN:1681766", "Orphanet:289478", "UMLS:C5191642" ], "synonyms": [ "pash syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017332" }, { "id": 17718, "label": "neonatal inflammatory skin and bowel disease", "isLeaf": false, "isRoot": false, "parents": [ 6965, 19129, 19503, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017355", "MEDGEN:1648296", "OMIMPS:614328", "Orphanet:294023", "UMLS:C4751120" ], "synonyms": [ "inflammatory skin and bowel disease, neonatal" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." }, "child_count": 10, "reference_id": "MONDO:0017411" }, { "id": 18151, "label": "magic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013371", "MEDGEN:590513", "Orphanet:324972", "UMLS:C0406568" ], "synonyms": [ "mouth and genital ulcers with inflamed cartilage" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017958" }, { "id": 18168, "label": "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis", "isLeaf": true, "isRoot": false, "parents": [ 4502, 6778, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017494", "MEDGEN:1720168", "Orphanet:329173", "UMLS:C5394674" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017992" }, { "id": 18401, "label": "Schnitzler syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4371", "EFO:1001165", "GARD:0012390", "ICD9:708.8", "MEDGEN:141892", "MESH:D019873", "MedDRA:10062908", "NORD:1696", "Orphanet:37748", "SCTID:402415001", "UMLS:C0524988", "icd11.foundation:1867840545" ], "synonyms": [ "chronic urticaria with gammopathy", "chronic urticaria with macroglobulinemia", "chronic urticaria with gammapathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." }, "child_count": 0, "reference_id": "MONDO:0018304" }, { "id": 18557, "label": "PFAPA syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081451", "GARD:0005657", "MEDGEN:909507", "NCIT:C116917", "Orphanet:42642", "SCTID:717231003", "UMLS:C4082167" ], "synonyms": [ "Marshall syndrome with periodic fever", "PFAPA", "periodic fever, aphthous stomatitis, pharyngitis and adenitis", "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome", "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome", "Marshall syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." }, "child_count": 0, "reference_id": "MONDO:0018540" }, { "id": 18765, "label": "pyoderma gangrenosum", "isLeaf": false, "isRoot": false, "parents": [ 4929, 19503 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8553", "GARD:0007510", "ICD10CM:L88", "ICD10WHO:L88", "ICD9:686.01", "MEDGEN:43224", "MESH:D017511", "MedDRA:10037635", "NANDO:2200437", "NORD:1638", "Orphanet:48104", "SCTID:74578003", "UMLS:C0085652", "icd11.foundation:2120746218" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." }, "child_count": 8, "reference_id": "MONDO:0018824" }, { "id": 19127, "label": "SAPHO syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13677", "EFO:1001164", "GARD:0007606", "ICD9:706.1", "MEDGEN:120490", "MESH:D020083", "MedDRA:10051316", "NCIT:C119049", "Orphanet:793", "SCTID:60684003", "UMLS:C0263859", "icd11.foundation:1901494067" ], "synonyms": [ "PPHS", "Pustulo-psoriatic hyperostotic Spondyloarthritis", "synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome", "synovitis-acne-pustulosis-hyperostosis-osteitis syndrome", "acquired hyperostosis syndrome", "synovitis acne pustulosis hyperostosis osteitis", "synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." }, "child_count": 0, "reference_id": "MONDO:0019266" }, { "id": 19178, "label": "sarcoidosis", "isLeaf": false, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11335", "GARD:0007607", "ICD10CM:D86", "ICD10WHO:D86", "MEDGEN:48554", "MESH:D012507", "MedDRA:10039486", "NANDO:1200415", "NCIT:C34995", "NORD:1690", "Orphanet:797", "SCTID:31541009", "UMLS:C0036202", "icd11.foundation:330792642" ], "synonyms": [ "Besnier-Boeck-Schaumann disease", "Boeck sarcoid", "Boeck's sarcoid", "Boeck's sarcoidosis", "Darier-Roussy sarcoid", "besnier-Boeck-Schaumann syndrome", "sarcoid", "sarcoidosis", "benign lymphogranulomatosis of Schaumann", "lupus pernio of Besnier", "miliary lupoid of boeck" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." }, "child_count": 8, "reference_id": "MONDO:0019338" }, { "id": 19191, "label": "adult-onset Still disease", "isLeaf": true, "isRoot": false, "parents": [ 7223, 19503 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14256", "EFO:0007135", "GARD:0000436", "ICD10CM:M06.1", "ICD9:714.2", "ICD9:759.89", "MEDGEN:39007", "MESH:D016706", "MedDRA:10058493", "MedDRA:10064056", "NANDO:1200282", "NORD:737", "Orphanet:829", "SCTID:239920006", "SCTID:68190001", "UMLS:C0085253", "icd11.foundation:549009522" ], "synonyms": [ "AOSD", "Adult-Onset Still's Disease", "Wissler-Fanconi syndrome", "adult-onset Still disease", "adult-onset Still's disease", "Still's disease adult onset", "adult Still's disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." }, "child_count": 0, "reference_id": "MONDO:0019355" }, { "id": 19261, "label": "systemic-onset juvenile idiopathic arthritis", "isLeaf": true, "isRoot": false, "parents": [ 12534, 19503 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001999", "GARD:0010966", "MEDGEN:346934", "MESH:C565798", "NANDO:1200470", "NANDO:2201055", "NCIT:C119031", "Orphanet:85414", "SCTID:201796004", "UMLS:C1858558", "icd11.foundation:504387587" ], "synonyms": [ "SoJIA", "Still disease", "sJIA", "systemic polyarthritis", "systemic-onset JIA", "Still's disease (formerly)", "systemic juvenile idiopathic arthritis", "systemic onset juvenile idiopathic arthritis", "systemic onset juvenile rheumatoid arthritis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." }, "child_count": 0, "reference_id": "MONDO:0019434" }, { "id": 21744, "label": "VEXAS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080828", "GARD:0015001", "MEDGEN:1765785", "NCIT:C181924", "OMIM:301054", "Orphanet:596753", "UMLS:C5435753" ], "synonyms": [ "VEXAS", "VEXAS syndrome, somatic", "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death." }, "child_count": 0, "reference_id": "MONDO:0026777" }, { "id": 22238, "label": "autoinflammatory syndrome, familial, Behcet-like", "isLeaf": false, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025698", "OMIMPS:616744" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0031384" }, { "id": 22845, "label": "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022273", "ICD10CM:D89.8", "MEDGEN:1799987", "Orphanet:566067", "UMLS:C5568564" ], "synonyms": [ "CAIN" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported." }, "child_count": 0, "reference_id": "MONDO:0035437" }, { "id": 24659, "label": "type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021957", "MEDGEN:1712223", "Orphanet:477647", "UMLS:C5394397" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response." }, "child_count": 9, "reference_id": "MONDO:0700264" }, { "id": 24835, "label": "autoinflammatory disease, X-linked", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026447", "MEDGEN:1811268", "OMIM:301081", "Orphanet:699605", "UMLS:C5676885" ], "synonyms": [ "NEMO deleted exon 5 syndrome", "autoinflammatory syndrome, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy." }, "child_count": 0, "reference_id": "MONDO:0800129" }, { "id": 24836, "label": "autoinflammatory syndrome with immunodeficiency", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026448", "MEDGEN:1784363", "OMIM:619375", "UMLS:C5543547" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance." }, "child_count": 0, "reference_id": "MONDO:0800130" }, { "id": 24843, "label": "early-onset pulmonary and cutaneous vasculitis", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026453" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis." }, "child_count": 0, "reference_id": "MONDO:0800137" }, { "id": 24854, "label": "autoinflammatory syndrome due to TBK1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026460" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene." }, "child_count": 0, "reference_id": "MONDO:0800148" }, { "id": 25103, "label": "F12-associated cold autoinflammatory syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022454", "MEDGEN:1843368", "Orphanet:617919", "UMLS:C5681829" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850053" }, { "id": 25108, "label": "neonatal-onset severe multisystemic autoinflammatory disease with increased IL18", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022462", "MEDGEN:1863412", "Orphanet:619363", "UMLS:C5925147" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850065" }, { "id": 25109, "label": "SAMD9L-associated autoinflammatory syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022463", "MEDGEN:1842521", "Orphanet:619367", "UMLS:C5680414" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850066" }, { "id": 25593, "label": "autoinflammatory syndrome of childhood", "isLeaf": false, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1842803", "Orphanet:319719", "UMLS:C5680962" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0957018" }, { "id": 25638, "label": "autoinflammatory disease, systemic, with vasculitis", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026806", "MEDGEN:1841161", "OMIM:620376", "UMLS:C5830525" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957271" }, { "id": 25665, "label": "granulomatous autoinflammatory syndrome of childhood", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021460", "MEDGEN:1842911", "Orphanet:324950", "UMLS:C5680954" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957405" }, { "id": 25697, "label": "autoinflammatory disease, multisystem, with immune dysregulation, X-linked", "isLeaf": false, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026852", "MEDGEN:1840213", "OMIM:301109", "UMLS:C5829577" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0957494" }, { "id": 25940, "label": "PAPASH syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027017", "MEDGEN:1853140", "Orphanet:641380", "UMLS:C5816787" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently." }, "child_count": 0, "reference_id": "MONDO:0958343" }, { "id": 29259, "label": "Sharpin-related autoinflammatory syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027236" ], "synonyms": [ "sharpenia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory disease in which the cause of the disease is a variation in the Sharpin gene." }, "child_count": 0, "reference_id": "MONDO:1040029" } ], "roots": [ { "id": 4370, "label": "syndromic disease" }, { "id": 7203, "label": "rheumatic disorder" } ] }