{ "id": 4223, "label": "endocrine gland neoplasm", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0002082", "properties": { "xrefs": [ "EFO:0003769", "ICD9:239.7", "MEDGEN:4044", "NCIT:C3010", "SCTID:387922007", "UMLS:C0014132" ], "synonyms": [ "endocrine gland neoplasm (disease)", "endocrine gland tumor", "endocrine gland tumour", "endocrine neoplasm", "endocrine system neoplasm", "endocrine system tumor", "endocrine system tumour", "endocrine tumor", "endocrine tumour", "neoplasm of endocrine gland", "tumor of endocrine gland", "tumour of endocrine gland", "malignant endocrine tumor", "malignant endocrine tumour" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." }, "isLeaf": false, "isRoot": false, "child_count": 14, "parents": [ { "id": 6798, "label": "neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 21214 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14566", "EFO:0000616", "HP:0002664", "ICD10CM:C00-D49", "ICD10CM:C7A-C7A", "ICD10CM:C7B-C7B", "ICD9:140-239", "ICD9:239.8", "ICD9:239.9", "MEDGEN:10294", "MESH:D009369", "NCIT:C3262", "ONCOTREE:OTHER", "SCTID:55342001", "UMLS:C0027651" ], "synonyms": [ "cell process disease", "disease of cellular proliferation", "neoplasia", "neoplasm", "neoplasm (disease)", "neoplastic disease", "neoplastic growth", "tumor", "tumor disease", "tumour", "tumour disease", "other neoplasm" ], "definition": "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." }, "child_count": 48, "reference_id": "MONDO:0005070" }, { "id": 6875, "label": "endocrine system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:28", "EFO:0001379", "ICD9:259.8", "ICD9:259.9", "MEDGEN:4043", "MESH:D004700", "NANDO:1100009", "NANDO:2100109", "NCIT:C3009", "SCTID:362969004", "UMLS:C0014130" ], "synonyms": [ "disease of endocrine system", "disease or disorder of endocrine system", "disorder of endocrine system", "endocrine disease", "endocrine disorder", "endocrine system disease", "endocrine system disease or disorder", "endocrine system disorder", "endocrinopathy", "thyroid or other glandular disorders" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the endocrine system." }, "child_count": 48, "reference_id": "MONDO:0005151" } ], "children": [ { "id": 3032, "label": "benign endocrine neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 6887 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060089", "ICD9:227.8", "ICD9:227.9", "MEDGEN:87577", "NCIT:C4621", "SCTID:92085000", "UMLS:C0347524" ], "synonyms": [ "benign endocrine gland neoplasm", "benign endocrine gland tumor", "benign endocrine gland tumour", "benign endocrine neoplasm", "benign endocrine tumor", "benign endocrine tumour", "benign neoplasm of endocrine gland", "benign neoplasm of the endocrine gland", "benign tumor of endocrine gland", "benign tumor of the endocrine gland", "benign tumour of endocrine gland", "benign tumour of the endocrine gland", "endocrine gland benign neoplasm" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." }, "child_count": 28, "reference_id": "MONDO:0000627" }, { "id": 6916, "label": "thymus neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 4440, 5325 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0002626", "GARD:0019767", "ICD9:239.89", "MEDGEN:811424", "NCIT:C3412", "ONCOTREE:THYMUS", "Orphanet:100100", "SCTID:127231009", "UMLS:C3714644" ], "synonyms": [ "Thymus neoplasm", "Thymus tumor", "Thymus tumour", "neoplasm of Thymus", "neoplasm of the Thymus", "neoplasm of thymus", "thymic neoplasm", "thymic tumor", "thymic tumour", "thymus neoplasm (disease)", "thymus tumor", "thymus tumour", "tumor of Thymus", "tumor of the Thymus", "tumor of thymus", "tumour of Thymus", "tumour of the Thymus", "tumour of thymus", "THYMUS" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." }, "child_count": 12, "reference_id": "MONDO:0005197" }, { "id": 7622, "label": "granulosa cell tumor", "isLeaf": false, "isRoot": false, "parents": [ 4223, 7639 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2999", "EFO:1000032", "MEDGEN:6676", "MESH:D006106", "NCIT:C3070", "ONCOTREE:GRCT", "UMLS:C0018206" ], "synonyms": [ "granulosa cell neoplasm", "granulosa cell neoplasm (disease)", "granulosa cell tumor", "granulosa cell tumor, adult type (morphologic abnormality)", "granulosa cell tumor, sarcomatoid", "neoplasm of granulosa cell", "tumor of granulosa cell", "tumour of granulosa cell", "GRCT", "granulosa cell tumor, undetermined" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms." }, "child_count": 4, "reference_id": "MONDO:0006036" }, { "id": 16048, "label": "thyroid tumor", "isLeaf": false, "isRoot": false, "parents": [ 4223, 5187 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003841", "GARD:0019762", "ICD9:239.7", "MEDGEN:21546", "NCIT:C3414", "ONCOTREE:THYROID", "Orphanet:100087", "SCTID:127018007", "UMLS:C0040136" ], "synonyms": [ "neoplasm of the thyroid", "neoplasm of the thyroid gland", "neoplasm of thyroid", "neoplasm of thyroid gland", "thyroid gland neoplasm", "thyroid gland neoplasm (disease)", "thyroid gland tumor", "thyroid gland tumour", "thyroid neoplasm", "thyroid neoplasms", "thyroid tumor", "tumor of the thyroid", "tumor of the thyroid gland", "tumor of thyroid", "tumor of thyroid gland", "tumour of the thyroid", "tumour of the thyroid gland", "tumour of thyroid", "tumour of thyroid gland", "THYROID" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant neoplasm affecting the thyroid gland." }, "child_count": 10, "reference_id": "MONDO:0015074" }, { "id": 17888, "label": "pituitary tumor", "isLeaf": false, "isRoot": false, "parents": [ 4223, 4759, 5314, 7638, 8247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021253", "ICD9:239.7", "MEDGEN:19326", "NCIT:C3330", "Orphanet:304055", "SCTID:127024001", "UMLS:C0032019" ], "synonyms": [ "neoplasm of pituitary", "neoplasm of pituitary gland", "neoplasm of the pituitary", "neoplasm of the pituitary gland", "pituitary gland neoplasm", "pituitary gland tumor", "pituitary gland tumour", "pituitary neoplasm", "pituitary tumor", "tumor of pituitary", "tumor of pituitary gland", "tumor of the pituitary", "tumor of the pituitary gland", "tumour of pituitary", "tumour of pituitary gland", "tumour of the pituitary", "tumour of the pituitary gland" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland." }, "child_count": 45, "reference_id": "MONDO:0017611" }, { "id": 18819, "label": "familial tumoral calcinosis", "isLeaf": false, "isRoot": false, "parents": [ 4198, 4223, 4258 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009385", "GARD:0010877", "MEDGEN:452340", "MedDRA:10059364", "Orphanet:53715", "UMLS:C0263628" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." }, "child_count": 15, "reference_id": "MONDO:0018891" }, { "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": 20310, "label": "malignant endocrine neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 6733 ], "type_id": 0, "properties": { "xrefs": [ "DOID:170", "ICD9:194.9", "MEDGEN:56319", "MESH:D004701", "NCIT:C3575", "UMLS:C0153658" ], "synonyms": [ "endocrine neoplasm", "Endocrine tumour", "cancer of endocrine gland", "endocrine cancer", "endocrine gland cancer", "endocrine neoplasm, malignant", "malignant endocrine gland neoplasm", "malignant endocrine gland tumor", "malignant endocrine gland tumour", "malignant endocrine neoplasm", "malignant endocrine tumor", "malignant endocrine tumour", "malignant neoplasm of endocrine gland", "malignant neoplasm of the endocrine gland", "malignant tumor of endocrine gland", "malignant tumor of the endocrine gland", "malignant tumour of the endocrine gland" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." }, "child_count": 32, "reference_id": "MONDO:0021069" }, { "id": 20358, "label": "non-functioning endocrine neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:458882", "NCIT:C94760", "UMLS:C2986656" ], "synonyms": [ "endocrine-inactive tumor", "endocrine-inactive tumour", "non-functioning endocrine neoplasm", "nonfunctional Endocrine neoplasm", "nonfunctioning tumor", "nonfunctioning tumour" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." }, "child_count": 3, "reference_id": "MONDO:0021119" }, { "id": 20359, "label": "functioning endocrine neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223 ], "type_id": 0, "properties": { "xrefs": [ "ICDO:8158/1", "MEDGEN:458881", "NCIT:C94759", "UMLS:C2986655" ], "synonyms": [ "functioning endocrine neoplasm", "functioning tumor", "functioning tumour" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." }, "child_count": 2, "reference_id": "MONDO:0021120" }, { "id": 20437, "label": "adrenal gland neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 7151 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003850", "GARD:0019765", "MEDGEN:1352", "NCIT:C2859", "ONCOTREE:ADRENAL_GLAND", "Orphanet:100091", "UMLS:C0001624" ], "synonyms": [ "adrenal gland neoplasm (disease)", "adrenal gland tumor", "adrenal gland tumour", "adrenal neoplasm", "adrenal neoplasms", "adrenal tumor", "adrenal tumour", "neoplasm of adrenal gland", "neoplasm of the adrenal gland", "tumor of adrenal gland", "tumor of the adrenal gland", "tumour of adrenal gland", "tumour of the adrenal gland", "ADRENAL_GLAND", "adrenal/paraganglial tumor", "adrenal/paraganglial tumour" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A neoplasm (disease) that involves the adrenal gland." }, "child_count": 16, "reference_id": "MONDO:0021227" }, { "id": 20442, "label": "pineal body neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 5067, 20429, 23822 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:237252", "NCIT:C3328", "ONCOTREE:PINT", "UMLS:C1412004" ], "synonyms": [ "neoplasm of pineal area", "neoplasm of pineal body", "neoplasm of pineal region", "neoplasm of the pineal area", "neoplasm of the pineal region", "pineal area neoplasm", "pineal area tumor", "pineal area tumour", "pineal body neoplasm (disease)", "pineal body tumor", "pineal body tumour", "pineal neoplasm", "pineal region neoplasm", "pineal region tumor", "pineal region tumour", "pineal tumor", "pineal tumour", "pinealoma", "tumor of pineal area", "tumor of pineal body", "tumor of pineal region", "tumor of the pineal area", "tumor of the pineal region", "tumour of pineal area", "tumour of pineal body", "tumour of pineal region", "tumour of the pineal area", "tumour of the pineal region" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A neoplasm (disease) that involves the pineal body." }, "child_count": 20, "reference_id": "MONDO:0021232" }, { "id": 20525, "label": "tumor of parathyroid gland", "isLeaf": false, "isRoot": false, "parents": [ 3463, 4223 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:239.7", "MEDGEN:10586", "NCIT:C3313", "SCTID:127020005", "UMLS:C0030521" ], "synonyms": [ "neoplasm of parathyroid", "neoplasm of parathyroid gland", "neoplasm of the parathyroid", "neoplasm of the parathyroid gland", "parathyroid gland neoplasm", "parathyroid gland neoplasm (disease)", "parathyroid gland tumor", "parathyroid gland tumour", "parathyroid neoplasm", "parathyroid tumor", "parathyroid tumour", "tumor of parathyroid", "tumor of parathyroid gland", "tumor of the parathyroid", "tumor of the parathyroid gland", "tumour of parathyroid", "tumour of the parathyroid", "tumour of the parathyroid gland" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A neoplasm (disease) that involves the parathyroid gland." }, "child_count": 6, "reference_id": "MONDO:0021360" }, { "id": 21432, "label": "liver and intrahepatic bile duct neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4223, 4585, 6878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:916", "MEDGEN:232599", "NCIT:C7103", "NCIT:C7106", "ONCOTREE:LIVER", "SCTID:126851005", "UMLS:C1333976" ], "synonyms": [ "epithelial hepatic and intrahepatic bile duct neoplasm", "hepatic and intrahepatic bile duct neoplasm", "liver and intrahepatic bile duct epithelial neoplasm", "liver and intrahepatic bile duct neoplasm", "liver neoplasm", "liver neoplasm (disease)", "liver tumor", "liver tumour", "neoplasm of liver", "tumor of liver", "tumour of liver" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." }, "child_count": 51, "reference_id": "MONDO:0024477" } ], "roots": [ { "id": 6798, "label": "neoplasm" }, { "id": 6875, "label": "endocrine system disorder" } ] }