{ "id": 6778, "label": "immune system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005046", "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." }, "isLeaf": false, "isRoot": false, "child_count": 47, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 3018, "label": "hypersensitivity reaction disease", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060056", "EFO:1002003", "MEDGEN:759636", "NCIT:C3114", "SCTID:473010000", "UMLS:C3532523" ], "synonyms": [ "allergic reaction", "sensitive", "sensitivity", "hypersensitive", "hypersensitivity", "hypersensitivity reaction" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." }, "child_count": 10, "reference_id": "MONDO:0000605" }, { "id": 3028, "label": "immune system cancer", "isLeaf": false, "isRoot": false, "parents": [ 6733, 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060083" ], "synonyms": [ "cancer of immune system", "immune system cancer", "malignant immune system neoplasm", "malignant neoplasm of immune system" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A malignant neoplasm involving the immune system" }, "child_count": 50, "reference_id": "MONDO:0000621" }, { "id": 3035, "label": "immune system organ benign neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6778, 6887 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060092" ], "synonyms": [ "immune organ benign neoplasm" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A benign neoplasm that involves the immune organ." }, "child_count": 6, "reference_id": "MONDO:0000630" }, { "id": 5177, "label": "bone marrow disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 6893, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4961", "GARD:0023414", "ICD9:289.9", "MEDGEN:892905", "MESH:D001855", "NCIT:C34433", "SCTID:127035006", "UMLS:C4021634" ], "synonyms": [ "bone marrow disease", "bone marrow disease or disorder", "bone marrow disorder", "disease of bone marrow", "disease or disorder of bone marrow", "disorder of bone marrow" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any disease of the bone marrow." }, "child_count": 21, "reference_id": "MONDO:0003225" }, { "id": 5325, "label": "thymus gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 6875, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:533", "GARD:0023497", "ICD9:254", "ICD9:254.9", "MEDGEN:57585", "NCIT:C26962", "SCTID:20673009", "UMLS:C0154199" ], "synonyms": [ "Thymus disorder", "disease of thymus", "disease or disorder of thymus", "disorder of thymus", "disorder of thymus gland", "thymus disease", "thymus disease or disorder", "thymus disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." }, "child_count": 9, "reference_id": "MONDO:0003393" }, { "id": 5658, "label": "inborn error of immunity", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:612", "GARD:0019813", "MEDGEN:585013", "MESH:D007153", "NANDO:1200320", "NANDO:2100204", "Orphanet:101997", "SCTID:58606001", "UMLS:C0398686" ], "synonyms": [ "IEI", "inborn errors of immunity", "primary immunodeficiency disease", "antibody deficiency syndrome", "antibody deficiency syndromes", "deficiency syndrome, antibody", "deficiency syndrome, immunologic", "deficiency syndrome, immunological", "deficiency syndromes, antibody", "deficiency syndromes, immunologic", "deficiency syndromes, immunological", "immune deficiency disorder", "immunodeficiency syndrome", "immunologic deficiency syndrome", "immunological deficiency syndrome", "immunological deficiency syndromes", "primary immunodeficiency", "syndrome, antibody deficiency", "syndrome, immunologic deficiency", "syndrome, immunological deficiency", "syndromes, antibody deficiency", "syndromes, immunologic deficiency", "syndromes, immunological deficiency" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disorder in which the immune system is unable to mount an adequate immune response." }, "child_count": 40, "reference_id": "MONDO:0003778" }, { "id": 6569, "label": "leukocyte disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9500", "ICD9:288", "ICD9:288.9", "MEDGEN:7325", "MESH:D007960", "SCTID:54097007", "UMLS:C0023510" ], "synonyms": [ "disease of leukocyte", "disease or disorder of leukocyte", "disorder of leukocyte", "disorder, leukocyte", "disorders, leukocyte", "leukocyte disease", "leukocyte disease or disorder", "leukocyte disorder", "white blood cell disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A disease involving leukocytes." }, "child_count": 46, "reference_id": "MONDO:0004805" }, { "id": 6811, "label": "psoriasis", "isLeaf": false, "isRoot": false, "parents": [ 4496, 6778, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8893", "EFO:0000676", "ICD10CM:L40", "ICD10WHO:L40", "ICD9:696", "ICD9:696.1", "ICD9:696.5", "ICD9:696.8", "MEDGEN:10997", "MESH:D011565", "NCIT:C3346", "OMIMPS:177900", "SCTID:9014002", "UMLS:C0033860", "icd11.foundation:63698555" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." }, "child_count": 9, "reference_id": "MONDO:0005083" }, { "id": 6822, "label": "spondyloarthropathy", "isLeaf": false, "isRoot": false, "parents": [ 6778, 8264 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1123", "EFO:0000706", "MEDGEN:181888", "NCIT:C116778", "UMLS:C0949691" ], "synonyms": [ "seronegative spondyloarthropathy", "spondyloarthritis", "spondylarthropathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis." }, "child_count": 6, "reference_id": "MONDO:0005095" }, { "id": 6896, "label": "aggressive insulitis", "isLeaf": true, "isRoot": false, "parents": [ 4104, 6778 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." }, "child_count": 0, "reference_id": "MONDO:0005175" }, { "id": 6897, "label": "benign insulitis", "isLeaf": true, "isRoot": false, "parents": [ 4104, 6778 ], "type_id": 0, "properties": { "xrefs": [ "PMID:20545565", "Wikipedia:Insulitis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." }, "child_count": 0, "reference_id": "MONDO:0005176" }, { "id": 6965, "label": "inflammatory bowel disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6756, 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050589", "EFO:0003767", "ICD9:558.9", "MEDGEN:43877", "MESH:D015212", "NANDO:2100259", "NCIT:C3138", "OMIMPS:266600", "SCTID:24526004", "UMLS:C0021390" ], "synonyms": [ "IBD", "autoimmune bowel disorder", "inflammatory bowel disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." }, "child_count": 120, "reference_id": "MONDO:0005265" }, { "id": 8586, "label": "autoimmune disease", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "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)." }, "child_count": 47, "reference_id": "MONDO:0007179" }, { "id": 9080, "label": "TNF receptor 1-associated periodic fever syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778, 18150 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090018", "GARD:0008457", "MEDGEN:226899", "MESH:C536657", "NANDO:1200472", "NANDO:2200433", "NCIT:C119051", "NORD:1804", "OMIM:142680", "Orphanet:32960", "SCTID:403833009", "UMLS:C1275126", "icd11.foundation:1869883509" ], "synonyms": [ "autosomal dominant familial periodic fever", "FHF", "Hibernian fever, familial", "TNF receptor 1-associated periodic fever syndrome", "TNF receptor 1-associated periodic syndrome", "TNF receptor-associated periodic syndrome", "TRAPS", "TRAPS syndrome", "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome", "familial Hibernian fever", "tumor necrosis factor receptor 1 associated periodic syndrome", "tumor necrosis factor receptor 1-associated periodic syndrome", "tumor necrosis factor receptor-associated periodic syndrome", "tumour necrosis factor receptor 1 associated periodic syndrome", "tumour necrosis factor receptor 1-associated periodic syndrome", "tumour necrosis factor receptor-associated periodic syndrome", "FPF", "periodic FEVER, familial, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." }, "child_count": 0, "reference_id": "MONDO:0007727" }, { "id": 10419, "label": "epidermodysplasia verruciformis", "isLeaf": false, "isRoot": false, "parents": [ 6778, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13777", "GARD:0006357", "ICD9:078.19", "ICD9:757.8", "MEDGEN:41831", "MESH:D004819", "MedDRA:10052339", "NANDO:2200768", "NCIT:C126877", "Orphanet:302", "SCTID:19138001", "UMLS:C0014522", "icd11.foundation:1191479808" ], "synonyms": [ "Lewandowsky-Lutz dysplasia", "Lewandowsky-Lutz syndrome", "Lutz-Lewandowsky epidermodysplasia verruciformis", "epidermodysplasia verruciformis", "EV", "ever" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." }, "child_count": 2, "reference_id": "MONDO:0009176" }, { "id": 10681, "label": "Vici syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6778, 7611, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060356", "GARD:0000448", "MEDGEN:340962", "MESH:C535566", "NCIT:C138174", "OMIM:242840", "Orphanet:1493", "SCTID:719824001", "UMLS:C1855772" ], "synonyms": [ "Dionisi-Vici-Sabetta-Gambarara syndrome", "Vici syndrome", "absent corpus callosum-cataract-immunodeficiency syndrome", "corpus callosum agenesis-cataract-immunodeficiency syndrome", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum", "Dionisi Vici Sabetta Gambarara syndrome", "VICIS", "absent corpus callosum cataract immunodeficiency", "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." }, "child_count": 0, "reference_id": "MONDO:0009452" }, { "id": 10939, "label": "proteosome-associated autoinflammatory syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6778, 7611, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050553", "DOID:0060913", "GARD:0013824", "ICD9:709.8", "MEDGEN:376827", "MESH:C538334", "NANDO:1200867", "NANDO:2200435", "OMIMPS:256040", "Orphanet:2615", "Orphanet:324977", "Orphanet:324999", "Orphanet:325004", "SCTID:702449004", "UMLS:C1850568" ], "synonyms": [ "ALDD", "ALDD syndrome", "CANDLE syndrome", "JMP syndrome", "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy", "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy", "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome", "NNS", "Nakajo Nishimura syndrome", "Nakajo syndrome", "Nakajo-Nishimura syndrome", "PRAAS", "autoinflammation, lipodystrophy, and dermatosis syndrome", "autoinflammation-lipodystrophy-dermatosis syndrome", "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature", "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome", "proteasome disability syndrome", "proteasome-associated autoinflammatory syndrome", "secondary hypertrophic osteoperiostosis with pernio", "amyotrophy fat tissue anomaly", "amyotrophy-fat tissue anomaly syndrome", "nodular erythema digital changes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 24, "reference_id": "MONDO:0009726" }, { "id": 11052, "label": "hyperimmunoglobulinemia D with periodic fever", "isLeaf": true, "isRoot": false, "parents": [ 6778, 17945 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081450", "GARD:0002788", "MEDGEN:140768", "NANDO:1200866", "NANDO:2200436", "OMIM:260920", "Orphanet:343", "UMLS:C0398691" ], "synonyms": [ "HIDS", "hyper-IgD syndrome", "hyperimmunoglobinemia D with recurrent fever", "hyperimmunoglobulinemia D syndrome", "partial mevalonate kinase deficiency", "hyper IgD syndrome", "hyperimmunoglobulinemia D and periodic fever syndrome", "periodic fever Dutch type", "periodic fever, Dutch type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." }, "child_count": 0, "reference_id": "MONDO:0009849" }, { "id": 11331, "label": "transcobalamin II deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6778, 17107, 19087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050818", "GARD:0012338", "ICD10CM:D51.2", "MEDGEN:137976", "NCIT:C142806", "OMIM:275350", "Orphanet:859", "SCTID:237934001", "UMLS:C0342701" ], "synonyms": [ "TCN2 deficiency", "inherited deficiency of transcobalamin", "transcobalamin II deficiency", "TC 2 deficiency", "Tcn2 deficiency", "transcobalamin 2 deficiency", "transcobalamin deficiency" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." }, "child_count": 0, "reference_id": "MONDO:0010149" }, { "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": 13171, "label": "granulomatosis with polyangiitis", "isLeaf": false, "isRoot": false, "parents": [ 4542, 6778, 16324 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12132", "EFO:0005297", "GARD:0007880", "ICD10CM:M31.3", "ICD9:446.4", "MEDGEN:811223", "MESH:D014890", "MedDRA:10047888", "NANDO:1200263", "NANDO:1201009", "NANDO:2200424", "NCIT:C123111", "NCIT:C3444", "NORD:1840", "OMIM:608710", "Orphanet:900", "SCTID:195353004", "UMLS:C3495801", "icd11.foundation:1020056159" ], "synonyms": [ "ANCA-associated vasculitis", "Wg", "GPA", "Wegener granulomatosis", "Wegener's granulomatosis", "Wegener's syndrome", "granulomatosis - Wegener's", "granulomatosis with polyangiitis", "necrotizing respiratory granulomatosis", "pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis", "Midline granulomatosis" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." }, "child_count": 3, "reference_id": "MONDO:0012105" }, { "id": 13899, "label": "autosomal recessive osteopetrosis 7", "isLeaf": true, "isRoot": false, "parents": [ 6778, 18939 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110946", "GARD:0010106", "MEDGEN:436770", "MESH:C567354", "OMIM:612301", "Orphanet:178389", "UMLS:C2676766" ], "synonyms": [ "OPTB7", "TNFRSF11A osteopetrosis (disease)", "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia", "autosomal recessive osteopetrosis type 7", "osteopetrosis (disease) caused by mutation in TNFRSF11A", "osteopetrosis, autosomal recessive type 7", "osteopetrosis-hypogammaglobulinemia syndrome", "osteopetrosis autosomal recessive 7", "osteopetrosis osteoclast-poor with hypogammaglobulinemia", "osteopetrosis, autosomal recessive 7", "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." }, "child_count": 0, "reference_id": "MONDO:0012859" }, { "id": 14751, "label": "graft versus host disease", "isLeaf": false, "isRoot": false, "parents": [ 6778, 24617 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081267", "GARD:0016642", "ICD10CM:D89.81", "ICD9:279.50", "MEDGEN:9082", "MESH:D006086", "MedDRA:10018651", "NCIT:C3063", "NORD:1203", "Orphanet:39812", "SCTID:234646005", "UMLS:C0018133", "icd11.foundation:437372167" ], "synonyms": [ "GVH", "GVHD", "GvHD", "disease, graft-versus-host", "disease, graft-vs-host", "diseases, graft-versus-host", "diseases, graft-vs-host", "graft versus host disease", "graft vs host disease", "graft vs. host disease", "graft-versus-host disease", "graft-versus-host-disease", "graft-vs-host disease", "runt disease", "disease, homologous wasting", "disease, runt", "graft-VS-host diseases", "graft-versus-host disease, resistance to", "graft-versus-host disease, susceptibility to", "graft-versus-host diseases", "homologous wasting disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." }, "child_count": 4, "reference_id": "MONDO:0013730" }, { "id": 15486, "label": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6778, 19734 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080209", "GARD:0017586", "MEDGEN:863609", "OMIM:616084", "Orphanet:369861", "UMLS:C4015172" ], "synonyms": [ "SIFD", "SIFD syndrome", "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay", "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." }, "child_count": 0, "reference_id": "MONDO:0014487" }, { "id": 15714, "label": "Roifman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778, 17206, 24283, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009163", "MEDGEN:375801", "MESH:C535866", "OMIM:300258", "OMIM:616651", "Orphanet:353298", "UMLS:C1846059" ], "synonyms": [ "RFMN", "Roifman syndrome", "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency", "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome", "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014722" }, { "id": 16767, "label": "cryopyrin-associated periodic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6778, 18150 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010927", "ICD9:759.89", "MEDGEN:412215", "MESH:D056587", "MedDRA:10068850", "NANDO:1200465", "NANDO:2200432", "NCIT:C84657", "Orphanet:208650", "SCTID:430079001", "UMLS:C2316212", "icd11.foundation:2139918612" ], "synonyms": [ "caps", "Cryopyrinopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)." }, "child_count": 6, "reference_id": "MONDO:0016168" }, { "id": 16887, "label": "anti-HLA hyperimmunization", "isLeaf": true, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000730", "MEDGEN:929703", "Orphanet:2194", "UMLS:C4304034" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion." }, "child_count": 0, "reference_id": "MONDO:0016351" }, { "id": 17994, "label": "acquired immunodeficiency", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021359", "MEDGEN:1843453", "Orphanet:310050", "UMLS:C0596032", "icd11.foundation:609223181" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0017769" }, { "id": 18010, "label": "erythroderma desquamativum", "isLeaf": true, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006878", "HGNC:1331", "MEDGEN:1790529", "MESH:C535512", "Orphanet:314", "UMLS:C5551904" ], "synonyms": [ "Leiner disease", "Leiner-Moussous desquamative erythroderma", "erythroderma desquamativa of Leiner", "erythroderma desquamativum of infancy", "generalised erythroderma, diarrhea, and failure to thrive", "generalized erythroderma, diarrhea, and failure to thrive" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017787" }, { "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": 18248, "label": "familial Mediterranean fever", "isLeaf": false, "isRoot": false, "parents": [ 6778, 18150 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2987", "GARD:0006421", "ICD9:277.31", "MEDGEN:45811", "MESH:D010505", "MedDRA:10016207", "NANDO:1200863", "NANDO:2200431", "NCIT:C84707", "NORD:1130", "Orphanet:342", "SCTID:12579009", "UMLS:C0031069", "icd11.foundation:1373335705" ], "synonyms": [ "FMF", "Fiebre mediterránea familiar", "benign paroxysmal peritonitis", "benign recurrent polyserositis", "familial paroxysmal polyserositis", "periodic disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." }, "child_count": 4, "reference_id": "MONDO:0018088" }, { "id": 18847, "label": "22q11.2 deletion syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6778, 6967, 16088, 20971 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:16", "GARD:0010299", "MedDRA:10012979", "MedDRA:10066430", "NANDO:1200339", "NANDO:1200688", "NANDO:2200712", "NORD:853", "Orphanet:567", "icd11.foundation:1868156761" ], "synonyms": [ "22q11DS", "Cayler cardiofacial syndrome", "Chromosome 22q11.2 Deletion Syndrome", "Sedlackova syndrome", "Shprintzen syndrome", "Takao syndrome", "catch 22", "conotruncal anomaly face syndrome", "microdeletion 22q11.2", "monosomy 22q11", "DiGeorge sequence", "DiGeorge syndrome", "VCFS", "velocardiofacial syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." }, "child_count": 20, "reference_id": "MONDO:0018923" }, { "id": 19294, "label": "T-cell large granular lymphocyte leukemia", "isLeaf": true, "isRoot": false, "parents": [ 2906, 3274, 6778, 7079 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050751", "GARD:0009812", "ICD9:204.80", "ICDO:9768/1", "ICDO:9831/1", "ICDO:9831/3", "MEDGEN:363038", "MedDRA:10065862", "NCIT:C4664", "ONCOTREE:TLGL", "Orphanet:86872", "SCTID:277569004", "UMLS:C1955861", "icd11.foundation:83430037" ], "synonyms": [ "LGLL", "T gamma lymphoproliferative disorder", "T-LGL", "T-LGL leukaemia", "T-LGL leukemia", "T-cell LGL leukaemia", "T-cell LGL leukemia", "T-cell large gran. lymph. leuk.", "T-cell large granular lymphocyte leukemia", "T-cell large granular lymphocytic leukaemia", "T-cell large granular lymphocytic leukemia", "T-gamma lymphoproliferative disorder", "Tgamma large granular lymphocyte leukaemia", "Tgamma large granular lymphocyte leukemia", "large cell granular lymphogenous leukaemia", "large cell granular lymphogenous leukemia", "large cell granular lymphoid leukaemia", "large cell granular lymphoid leukemia", "large granular lymphocytic leukemia", "large granular lymphocytosis", "leukemia, large granular LYMPHOCYTIC, malignant", "proliferation of large granular lymphocytes", "LGL leukaemia", "LGL leukemia", "TLGL", "large granular lymphocyte leukaemia", "large granular lymphocyte leukemia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." }, "child_count": 0, "reference_id": "MONDO:0019469" }, { "id": 19546, "label": "twin to twin transfusion syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3480, 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13576", "EFO:1001221", "GARD:0000325", "MEDGEN:777055", "MESH:D005330", "MedDRA:10058328", "NCIT:C113824", "NORD:2021", "Orphanet:95431", "SCTID:13404009", "UMLS:C2909036", "icd11.foundation:850604370" ], "synonyms": [ "Feto-fetal transfusion syndrome", "Twin Anemia Polycythemia Sequence", "Twin-Twin transfusion syndrome", "foetal blood loss from foetal haemorrhage into co-twin", "foetal haemorrhage into co-twin", "placental transfusion syndrome", "stuck Twin syndrome", "twin-to-twin transfusion syndrome", "Fetofetal transfusion syndrome", "TTTS", "fetal transfusion syndrome", "foetal transfusion syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" }, "child_count": 2, "reference_id": "MONDO:0019805" }, { "id": 20334, "label": "immunodeficiency disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6778 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:279.3", "MEDGEN:7034", "NANDO:2100204", "NCIT:C3131", "OMIMPS:300755", "SCTID:234532001", "UMLS:C0021051" ], "synonyms": [ "immuno-deficiency", "immunodeficiency", "immunodeficiency disorder", "immunodeficiency syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." }, "child_count": 190, "reference_id": "MONDO:0021094" }, { "id": 20510, "label": "immunoproliferative disorder", "isLeaf": true, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:203.80", "MEDGEN:7038", "MESH:D007160", "SCTID:127071007", "UMLS:C0021070" ], "synonyms": [ "immunoproliferative disorder", "Disorder, Immunoproliferative", "Disorders, Immunoproliferative", "Immunoproliferative Disorder", "Immunoproliferative Disorders", "Immunoproliferative disease", "Immunoproliferative disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." }, "child_count": 0, "reference_id": "MONDO:0021334" }, { "id": 21057, "label": "cytokine receptor deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "synonyms": [ "cytokine receptor activity disease", "disorder of cytokine receptor activity" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disease that has its basis in the disruption of cytokine receptor activity." }, "child_count": 0, "reference_id": "MONDO:0022919" }, { "id": 21517, "label": "immunodeficiency-related disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:232641", "NCIT:C35686", "UMLS:C1334159" ], "synonyms": [ "Immunodepression-related disorder", "Immunosuppression disorders", "Immunosuppression-related disorder", "immunodeficiency-related disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation." }, "child_count": 1, "reference_id": "MONDO:0024572" }, { "id": 21541, "label": "phagocytic cell dysfunction", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:585044", "SCTID:302874002", "UMLS:C0398732" ], "synonyms": [ "defective phagocytosis", "phagocytic cell dysfunction" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 7, "reference_id": "MONDO:0024627" }, { "id": 23244, "label": "thrombocytopenic purpura", "isLeaf": false, "isRoot": false, "parents": [ 4196, 4662, 6778, 19495 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025866", "MEDGEN:208992", "MESH:D011696", "NANDO:2100188", "NCIT:C26870", "SCTID:302873008", "UMLS:C0857305" ], "synonyms": [ "thrombocytopenic purpura", "purpura, thrombopenic", "purpuras, thrombocytopenic", "purpuras, thrombopenic", "thrombocytopenic purpuras", "thrombopenic purpura", "thrombopenic purpuras" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors." }, "child_count": 8, "reference_id": "MONDO:0043768" }, { "id": 23494, "label": "lymphoid system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:9829", "SCTID:111590001", "UMLS:C0024228" ], "synonyms": [ "disease of lymphoid system", "disease or disorder of lymphoid system", "disorder of lymphoid system", "lymphoid system disease", "lymphoid system disease or disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disease or disorder that involves the lymphoid system." }, "child_count": 5, "reference_id": "MONDO:0044986" }, { "id": 23927, "label": "immune reconstitution inflammatory syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778, 20399 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:D89.3", "MEDGEN:295297", "MESH:D054019", "NCIT:C125712", "UMLS:C1619738", "icd11.foundation:180703474" ], "synonyms": [ "IRD", "IRIS", "IRS", "immune reconstitution syndrome", "immune restoration disease", "immune reconstitution inflammatory syndrome associated with Kaposi sarcoma" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens." }, "child_count": 0, "reference_id": "MONDO:0100185" }, { "id": 23952, "label": "growth hormone insensitivity with immune dysregulation 1, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 6778, 7611, 23951 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080836", "GARD:0018311", "MEDGEN:1734133", "MESH:C537871", "NANDO:2200737", "OMIM:245590", "Orphanet:220465", "SCTID:724179008", "UMLS:C5435698" ], "synonyms": [ "Laron syndrome due to postreceptor defect", "Laron syndrome with immunodeficiency", "Laron-like syndrome", "growth hormone insensitivity due to postreceptor defect", "short stature due to STAT5b deficiency", "growth hormone insensitivity with immunodeficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0100211" }, { "id": 24382, "label": "cytokine release syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:D89.83", "MEDGEN:215297", "MESH:D000080424", "NCIT:C78251", "UMLS:C0948245" ], "synonyms": [ "CRS", "cytokine storm", "cytokine-associated toxicity" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening." }, "child_count": 0, "reference_id": "MONDO:0600008" }, { "id": 25111, "label": "early-onset autoimmunity-autoinflammation-immunodeficiency syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022465", "MEDGEN:1842754", "Orphanet:619948", "UMLS:C5680416" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850068" }, { "id": 25113, "label": "CADINS disease", "isLeaf": true, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022467", "MEDGEN:1842902", "Orphanet:619972", "UMLS:C5680417" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850070" }, { "id": 26176, "label": "autoinflammation, panniculitis, and dermatosis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061170", "OMIMPS:617099" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0975955" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }