{ "id": 7365, "label": "yolk sac tumor", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005744", "properties": { "xrefs": [ "DOID:1911", "EFO:0007252", "GARD:0000348", "ICDO:9071/3", "MEDGEN:41782", "MedDRA:10048251", "NANDO:2200069", "NCIT:C3011", "ONCOTREE:BYST", "Orphanet:876", "SCTID:404081005", "UMLS:C0014145" ], "synonyms": [ "endodermal sinus neoplasm", "endodermal sinus tumor", "hepatoid yolk sac tumor", "yolk SAC tumor, malignant", "yolk Sac neoplasm", "yolk Sac tumor", "yolk Sac tumor site unspecified", "yolk Sac tumour site unspecified", "yolk sac tumor", "infantile embryonal carcinoma" ], "definition": "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." }, "isLeaf": false, "isRoot": false, "child_count": 7, "parents": [ { "id": 5475, "label": "extragonadal nonseminomatous germ cell tumor", "isLeaf": false, "isRoot": false, "parents": [ 5094, 19983 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5677", "GARD:0023567", "MEDGEN:233662", "NCIT:C8885", "UMLS:C1334582" ], "synonyms": [ "cancer of extragonadal non-seminomatous germ cell", "cancer of the extragonadal non-seminomatous germ cell", "extragonadal non-seminomatous germ cell cancer", "extragonadal primary Nonseminoma", "malignant extragonadal Nonseminoma", "malignant extragonadal non-seminomatous germ cell neoplasm", "malignant extragonadal non-seminomatous germ cell tumor", "malignant extragonadal non-seminomatous germ cell tumour", "malignant neoplasm of extragonadal non-seminomatous germ cell", "malignant neoplasm of the extragonadal non-seminomatous germ cell", "malignant tumor of extragonadal non-seminomatous germ cell", "malignant tumor of the extragonadal non-seminomatous germ cell", "malignant tumour of extragonadal non-seminomatous germ cell", "malignant tumour of the extragonadal non-seminomatous germ cell", "primary malignant extragonadal Nonseminoma" ], "definition": "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." }, "child_count": 20, "reference_id": "MONDO:0003578" } ], "children": [ { "id": 4276, "label": "vaginal yolk sac tumor", "isLeaf": true, "isRoot": false, "parents": [ 7365, 16721 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1910", "GARD:0023076", "MEDGEN:234985", "NCIT:C6379", "ONCOTREE:VYST", "UMLS:C1336945" ], "synonyms": [ "vaginal endodermal sinus neoplasm", "vaginal endodermal sinus tumor", "vaginal endodermal sinus tumour", "vaginal yolk Sac neoplasm", "vaginal yolk Sac tumor", "vaginal yolk Sac tumour", "yolk sac tumor", "yolk sac tumour" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge." }, "child_count": 0, "reference_id": "MONDO:0002143" }, { "id": 5332, "label": "childhood endodermal sinus tumor", "isLeaf": false, "isRoot": false, "parents": [ 6283, 7365 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5342", "GARD:0023500", "MEDGEN:234139", "NCIT:C27364", "UMLS:C1333016" ], "synonyms": [ "childhood endodermal sinus neoplasm", "childhood endodermal sinus tumor", "pediatric yolk Sac tumor", "childhood yolk Sac neoplasm", "childhood yolk Sac tumor", "childhood yolk Sac tumour", "paediatric endodermal sinus neoplasm", "paediatric yolk Sac neoplasm", "pediatric endodermal sinus neoplasm", "pediatric yolk Sac neoplasm" ], "definition": "A yolk sac tumor that occurs during childhood." }, "child_count": 4, "reference_id": "MONDO:0003400" }, { "id": 5334, "label": "testicular yolk sac tumor", "isLeaf": false, "isRoot": false, "parents": [ 4887, 5335, 7365 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5344", "EFO:1000574", "GARD:0023502", "MEDGEN:79028", "NCIT:C8000", "ONCOTREE:TYST", "UMLS:C0279708" ], "synonyms": [ "testicular yolk Sac neoplasm", "testicular yolk sac tumor", "testis yolk sac tumor", "testis yolk sac tumour", "Orchidoblastoma", "endodermal sinus neoplasm of testis", "endodermal sinus neoplasm of the testis", "endodermal sinus tumor of testis", "endodermal sinus tumor of the testis", "endodermal sinus tumour of testis", "endodermal sinus tumour of the testis", "endodermal-sinus tumor", "endodermal-sinus tumour", "testicular endodermal sinus neoplasm", "testicular endodermal sinus tumor", "testicular endodermal sinus tumour", "yolk Sac neoplasm of testis", "yolk Sac neoplasm of the testis", "yolk Sac tumor of testis", "yolk Sac tumor of the testis", "yolk Sac tumour of testis", "yolk Sac tumour of the testis", "yolk sac tumor", "yolk sac tumour" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation." }, "child_count": 30, "reference_id": "MONDO:0003402" }, { "id": 5336, "label": "adult yolk sac tumor", "isLeaf": true, "isRoot": false, "parents": [ 7365, 23464 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5348", "GARD:0023504", "MEDGEN:231046", "NCIT:C27241", "UMLS:C1332221" ], "synonyms": [ "yolk Sac tumor", "yolk Sac tumour", "adult endodermal sinus neoplasm", "adult endodermal sinus tumor", "adult endodermal sinus tumour", "adult yolk Sac neoplasm", "adult yolk Sac tumor", "adult yolk Sac tumour", "yolk sac tumor of adults", "yolk sac tumour of adults" ], "definition": "A yolk sac tumor that occurs in an adult." }, "child_count": 0, "reference_id": "MONDO:0003404" }, { "id": 7870, "label": "ovarian yolk sac tumor", "isLeaf": false, "isRoot": false, "parents": [ 7365, 16723 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5350", "EFO:1000437", "GARD:0024374", "MEDGEN:83415", "NCIT:C8107", "ONCOTREE:OYST", "SCTID:254876005", "UMLS:C0346188" ], "synonyms": [ "endodermal sinus neoplasm of ovary", "endodermal sinus neoplasm of the ovary", "endodermal sinus tumor of ovary", "endodermal sinus tumor of the ovary", "endodermal sinus tumour of the ovary", "germ cell endodermal sinus neoplasm of ovary", "germ cell endodermal sinus neoplasm of the ovary", "germ cell endodermal sinus tumor of ovary", "germ cell endodermal sinus tumor of the ovary", "germ cell endodermal sinus tumour of ovary", "germ cell endodermal sinus tumour of the ovary", "ovarian endodermal sinus neoplasm", "ovarian endodermal sinus tumor", "ovarian germ cell endodermal sinus neoplasm", "ovarian germ cell endodermal sinus tumor", "ovarian germ cell endodermal sinus tumour", "ovarian yolk Sac neoplasm", "ovarian yolk sac tumor", "ovary yolk sac tumor", "ovary yolk sac tumour", "yolk Sac neoplasm of ovary", "yolk Sac neoplasm of the ovary", "yolk Sac tumor of ovary", "yolk Sac tumor of the ovary", "yolk Sac tumour of ovary", "yolk Sac tumour of the ovary", "yolk sac tumor", "yolk sac tumour" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." }, "child_count": 8, "reference_id": "MONDO:0006344" }, { "id": 17189, "label": "yolk sac tumor of central nervous system", "isLeaf": false, "isRoot": false, "parents": [ 7365 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020733", "MEDGEN:234492", "NCIT:C7011", "Orphanet:252006", "UMLS:C1337040", "icd11.foundation:1023155823" ], "synonyms": [ "CNS yolk Sac tumor", "CNS yolk Sac tumour", "central nervous system yolk Sac tumor", "central nervous system yolk Sac tumour", "endodermal sinus tumor of CNS", "endodermal sinus tumor of central nervous system", "endodermal sinus tumour of CNS", "endodermal sinus tumour of central nervous system", "intracranial endodermal sinus tumor", "intracranial endodermal sinus tumour", "intracranial yolk sac tumor", "intracranial yolk sac tumour", "yolk Sac tumor of CNS", "yolk Sac tumor of central nervous system", "yolk Sac tumor of the CNS", "yolk Sac tumor of the central nervous system", "yolk Sac tumour of CNS", "yolk Sac tumour of central nervous system", "yolk Sac tumour of the CNS", "yolk Sac tumour of the central nervous system", "yolk sac tumor of CNS", "yolk sac tumour of CNS" ], "definition": "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)" }, "child_count": 1, "reference_id": "MONDO:0016739" }, { "id": 21273, "label": "mediastinal yolk sac tumor", "isLeaf": true, "isRoot": false, "parents": [ 7365, 7838 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008258", "MEDGEN:233176", "NCIT:C6443", "UMLS:C1334683" ], "synonyms": [ "endodermal sinus neoplasm of mediastinum", "endodermal sinus neoplasm of the mediastinum", "endodermal sinus tumor of mediastinum", "endodermal sinus tumor of the mediastinum", "endodermal sinus tumour of mediastinum", "endodermal sinus tumour of the mediastinum", "mediastinal endodermal sinus neoplasm", "mediastinal endodermal sinus tumor", "mediastinal endodermal sinus tumour", "mediastinal yolk Sac neoplasm", "mediastinal yolk Sac tumor", "mediastinal yolk Sac tumour", "mediastinum yolk sac tumor", "mediastinum yolk sac tumour", "yolk Sac neoplasm of mediastinum", "yolk Sac neoplasm of the mediastinum", "yolk Sac tumor of mediastinum", "yolk Sac tumor of the mediastinum", "yolk Sac tumour of mediastinum", "yolk Sac tumour of the mediastinum", "EST", "mediastinal endodermal sinus tumors", "mediastinal endodermal sinus tumours" ], "definition": "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome." }, "child_count": 0, "reference_id": "MONDO:0023726" } ], "roots": [ { "id": 5475, "label": "extragonadal nonseminomatous germ cell tumor" } ] }