{ "id": 20702, "label": "uterine corpus neuroendocrine neoplasm", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0021650", "properties": { "xrefs": [ "GARD:0025347", "MEDGEN:925580", "NCIT:C126771", "UMLS:C4288048" ], "synonyms": [ "body of uterus NET", "body of uterus neuroendocrine neoplasm", "body of uterus neuroendocrine tumor", "body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade", "body of uterus neuroendocrine tumour", "neuroendocrine neoplasm of body of uterus", "uterine corpus neuroendocrine neoplasm", "uterine corpus neuroendocrine tumor", "uterine corpus neuroendocrine tumour" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." }, "isLeaf": false, "isRoot": false, "child_count": 2, "parents": [ { "id": 19314, "label": "neuroendocrine neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223 ], "type_id": 0, "properties": { "xrefs": [ "DOID:169", "EFO:1001901", "GARD:0009316", "ICD9:209", "ICD9:209-209", "ICD9:239.7", "MEDGEN:64652", "MESH:D018358", "NCIT:C188218", "NCIT:C3809", "Orphanet:877", "SCTID:255046005", "UMLS:C0206754" ], "synonyms": [ "APUDoma", "neuroendocrine neoplasm", "neuroendocrine tumor", "neuroendocrine tumour" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion)." }, "child_count": 14, "reference_id": "MONDO:0019496" }, { "id": 20461, "label": "corpus uteri neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 20520 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:226810", "NCIT:C6300", "SCTID:126909004", "UMLS:C1263777" ], "synonyms": [ "body of uterus neoplasm", "body of uterus neoplasm (disease)", "body of uterus tumor", "body of uterus tumour", "corpus uteri tumor", "corpus uteri tumour", "neoplasm of body of uterus", "neoplasm of corpus uteri", "neoplasm of the body of uterus", "neoplasm of the corpus uteri", "neoplasm of the uterine body", "neoplasm of the uterine corpus", "neoplasm of uterine body", "neoplasm of uterine corpus", "tumor of body of uterus", "tumor of corpus uteri", "tumor of the corpus uteri", "tumor of the uterine body", "tumor of the uterine corpus", "tumor of uterine body", "tumor of uterine corpus", "tumour of body of uterus", "tumour of corpus uteri", "tumour of the corpus uteri", "tumour of the uterine body", "tumour of the uterine corpus", "tumour of uterine body", "tumour of uterine corpus", "uterine body neoplasm", "uterine body tumor", "uterine body tumour", "uterine corpus neoplasm", "uterine corpus tumor", "uterine corpus tumour" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A neoplasm (disease) that involves the body of uterus." }, "child_count": 6, "reference_id": "MONDO:0021254" } ], "children": [ { "id": 16832, "label": "high-grade neuroendocrine carcinoma of the corpus uteri", "isLeaf": true, "isRoot": false, "parents": [ 7594, 20310, 20702 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020482", "MEDGEN:1664315", "Orphanet:213731", "UMLS:C4751234" ], "synonyms": [ "high-grade neuroendocrine carcinoma of the uterine corpus", "poorly differentiated neuroendocrine carcinoma of the corpus uteri", "poorly differentiated neuroendocrine carcinoma of the endometrium" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." }, "child_count": 0, "reference_id": "MONDO:0016269" }, { "id": 16833, "label": "low-grade neuroendocrine tumor of the corpus uteri", "isLeaf": true, "isRoot": false, "parents": [ 7594, 20310, 20702 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020483", "MEDGEN:1672976", "NCIT:C126773", "Orphanet:213736", "UMLS:C5190779" ], "synonyms": [ "low-grade neuroendocrine tumor of the uterine corpus", "low-grade neuroendocrine tumour of the uterine corpus", "well-differentiated neuroendocrine neoplasm of the endometrium", "well-differentiated neuroendocrine tumor of the corpus uteri", "well-differentiated neuroendocrine tumor of the endometrium", "well-differentiated neuroendocrine tumour of the corpus uteri", "well-differentiated neuroendocrine tumour of the endometrium" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." }, "child_count": 0, "reference_id": "MONDO:0016270" } ], "roots": [ { "id": 19314, "label": "neuroendocrine neoplasm" }, { "id": 20461, "label": "corpus uteri neoplasm" } ] }