{ "id": 20301, "label": "neoplastic syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0021058", "properties": { "xrefs": [ "MEDGEN:362147", "NCIT:C54705", "UMLS:C1882062" ], "synonyms": [ "cancer-related syndrome", "neoplastic syndrome", "tumor syndrome", "tumour syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." }, "isLeaf": false, "isRoot": false, "child_count": 11, "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": 21214, "label": "neoplastic disease or syndrome", "isLeaf": false, "isRoot": false, "parents": [ 23519 ], "type_id": 0, "properties": { "synonyms": [ "neoplastic disease", "neoplastic disorder" ], "definition": "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." }, "child_count": 3, "reference_id": "MONDO:0023370" } ], "children": [ { "id": 12529, "label": "Carney triad", "isLeaf": true, "isRoot": false, "parents": [ 16050, 20301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010924", "MEDGEN:388099", "MESH:C565803", "NCIT:C94833", "OMIM:604287", "Orphanet:139411", "SCTID:733492003", "UMLS:C1858592", "icd11.foundation:1771169701" ], "synonyms": [ "Carney triad", "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." }, "child_count": 0, "reference_id": "MONDO:0011424" }, { "id": 16218, "label": "hereditary neoplastic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 20011, 20301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019921", "MEDGEN:14326", "MESH:D009386", "NCIT:C3266", "Orphanet:140162", "SCTID:699346009", "UMLS:C0027672" ], "synonyms": [ "cancer syndrome, hereditary", "cancer syndromes, hereditary", "familial neoplastic syndrome", "familial tumor syndrome", "familial tumour syndrome", "hereditary cancer syndrome", "hereditary cancer syndromes", "hereditary neoplastic syndrome", "hereditary neoplastic syndromes", "hereditary tumor syndrome", "hereditary tumour syndrome", "inherited cancer syndrome", "inherited cancer-predisposing syndrome", "neoplastic syndrome, hereditary", "syndrome, hereditary cancer", "syndrome, hereditary neoplastic", "syndromes, hereditary cancer", "syndromes, hereditary neoplastic" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The inherited predisposition toward getting a tumor." }, "child_count": 351, "reference_id": "MONDO:0015356" }, { "id": 18020, "label": "Meigs syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3047, 20301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021372", "ICD9:629.89", "MEDGEN:6287", "MESH:D008539", "MedDRA:10027139", "NCIT:C3223", "Orphanet:314451", "SCTID:63402005", "UMLS:C0025184", "icd11.foundation:1050919535" ], "synonyms": [ "Demons-Meigs syndrome", "Meigs' syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." }, "child_count": 0, "reference_id": "MONDO:0017799" }, { "id": 18028, "label": "growing teratoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 20301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021380", "MEDGEN:856083", "NCIT:C118370", "Orphanet:314613", "UMLS:C3891714" ], "synonyms": [ "GTS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment." }, "child_count": 0, "reference_id": "MONDO:0017807" }, { "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": 18812, "label": "myelodysplastic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16513, 20301 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050908", "EFO:0000198", "GARD:0007132", "ICD10CM:D46", "ICD9:238.7", "ICD9:238.75", "ICDO:9989/3", "MEDGEN:483005", "MedDRA:10028532", "NANDO:2100003", "NANDO:2200019", "NCIT:C3247", "NORD:1480", "OMIM:614286", "ONCOTREE:MDS", "Orphanet:52688", "SCTID:109995007", "UMLS:C3463824" ], "synonyms": [ "MDS", "MDS, unclassifiable", "MDS-U", "Myelodysplastic Syndromes", "dysmyelopoietic syndrome", "hematopoeitic - myelodysplastic syndrome (MDS)", "myelodysplasia", "myelodysplastic neoplasm", "myelodysplastic syndrome", "myelodysplastic syndrome, somatic", "myelodysplastic syndrome, unclassifiable", "myelodysplastic syndrome/neoplasm", "myelodysplastic syndromes", "oligoblastic leukaemia", "oligoblastic leukemia", "preleukemia", "smoldering leukemia", "smouldering leukaemia", "myelodysplastic syndrome, susceptibility to" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" }, "child_count": 16, "reference_id": "MONDO:0018881" }, { "id": 19402, "label": "Zollinger-Ellison syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3954, 20301 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050782", "EFO:0007549", "GARD:0007918", "HP:0002044", "MEDGEN:53129", "MESH:D015043", "MedDRA:10017852", "NCIT:C3453", "NORD:1877", "Orphanet:913", "SCTID:302824004", "SCTID:53132006", "UMLS:C0043515", "icd11.foundation:375645550" ], "synonyms": [ "Zollinger Ellison syndrome", "Zollinger-Ellison syndrome", "Zollinger-Ellison syndrome (disease)", "Z E syndrome", "Z-E syndrome", "ZES", "gastrinoma", "pancreatic ulcerogenic tumor syndrome", "pancreatic ulcerogenic tumour syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." }, "child_count": 0, "reference_id": "MONDO:0019610" }, { "id": 21575, "label": "Pancoast syndrome", "isLeaf": true, "isRoot": false, "parents": [ 20301, 21606 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025455", "MEDGEN:10553", "MESH:D010178", "NCIT:C55815", "SCTID:278065000", "UMLS:C0030271" ], "synonyms": [ "Pancoast syndrome", "Pancoast's syndrome", "Pancoast tumor", "Pancoast tumour", "Pancoasts syndrome", "superior pulmonary sulcus syndrome", "syndrome, Pancoast", "syndrome, Pancoast's", "tumor, Pancoast" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent." }, "child_count": 0, "reference_id": "MONDO:0024674" }, { "id": 23215, "label": "ectopic ACTH secretion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7151, 20301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025861", "ICD10CM:E24.3", "MEDGEN:103", "MESH:D000182", "NANDO:2200351", "NCIT:C4387", "SCTID:626004", "UMLS:C0001231" ], "synonyms": [ "ectopic ACTH secretion", "ectopic ACTH secretion syndrome", "ectopic ACTH syndrome", "hypercortisolism due to nonpituitary tumor", "hypercortisolism due to nonpituitary tumour", "ACTH syndromes, ectopic", "ectopic ACTH secretion causing Cushing's syndrome", "ectopic ACTH syndromes", "syndrome, ectopic ACTH", "syndromes, ectopic ACTH" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)" }, "child_count": 0, "reference_id": "MONDO:0043472" }, { "id": 23255, "label": "tumor lysis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6795, 20301 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025870", "ICD10CM:E88.3", "MEDGEN:52890", "MESH:D015275", "NCIT:C3425", "SCTID:277605001", "UMLS:C0041364" ], "synonyms": [ "tumor lysis syndrome", "syndrome, tumor lysis", "syndrome, tumour lysis", "syndromes, tumor lysis", "syndromes, tumour lysis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death." }, "child_count": 0, "reference_id": "MONDO:0043875" }, { "id": 23552, "label": "ectopic hormone secretion syndrome associated with neoplasia", "isLeaf": false, "isRoot": false, "parents": [ 20301 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:208863", "NCIT:C4065", "UMLS:C0851689" ], "synonyms": [ "ectopic hormone secretion syndrome associated with neoplasia", "neoplasm associated ectopic hormone secretion syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." }, "child_count": 1, "reference_id": "MONDO:0045072" } ], "roots": [ { "id": 4370, "label": "syndromic disease" }, { "id": 21214, "label": "neoplastic disease or syndrome" } ] }