{
  "id": 2912,
  "label": "paraganglioma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000448",
  "properties": {
    "xrefs": [
      "DOID:0050773",
      "EFO:1000453",
      "GARD:0022770",
      "ICD9:239.7",
      "ICDO:8680/1",
      "MEDGEN:10571",
      "MESH:D010235",
      "NCIT:C3308",
      "ONCOTREE:PGNG",
      "SCTID:127027008",
      "UMLS:C0030421"
    ],
    "synonyms": [
      "Paraganglionic neoplasm",
      "Paraganglionic tumor",
      "Paraganglionic tumour",
      "neoplasm of paraganglion",
      "neoplasm of the paraganglion",
      "paraganglioma",
      "paragangliomas",
      "paraganglion neoplasm",
      "paraganglion tumor",
      "paraganglion tumour",
      "tumor of paraganglion",
      "tumor of the paraganglion",
      "tumour of paraganglion",
      "tumour of the paraganglion",
      "chemodectoma"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 4464,
      "label": "autonomic nervous system neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3525,
        3627,
        7694
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2621",
          "MEDGEN:231389",
          "NCIT:C5112",
          "UMLS:C1332356"
        ],
        "synonyms": [
          "autonomic nervous system neoplasm",
          "autonomic nervous system neoplasm (disease)",
          "autonomic nervous system neoplasms",
          "autonomic nervous system tumor",
          "autonomic nervous system tumour",
          "neoplasm of autonomic nervous system",
          "neoplasm of the autonomic nervous system",
          "tumor of autonomic nervous system",
          "tumor of the autonomic nervous system",
          "tumour of autonomic nervous system",
          "tumour of the autonomic nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system."
      },
      "child_count": 9,
      "reference_id": "MONDO:0002366"
    },
    {
      "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": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 7791,
      "label": "head and neck paraganglioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2912,
        7231
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000288",
          "GARD:0024345",
          "MEDGEN:232588",
          "NCIT:C5327",
          "UMLS:C1333944"
        ],
        "synonyms": [
          "craniocervical region paraganglioma",
          "head and neck paraganglioma",
          "paraganglioma of craniocervical region",
          "paraganglioma of head and neck",
          "paraganglioma of the head and neck"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas."
      },
      "child_count": 8,
      "reference_id": "MONDO:0006239"
    },
    {
      "id": 8675,
      "label": "pheochromocytoma/paraganglioma syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        2912,
        17682
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061219",
          "GARD:0010546",
          "MEDGEN:349380",
          "OMIM:115310",
          "UMLS:C1861848"
        ],
        "synonyms": [
          "SDHB paraganglioma",
          "SDHB-related tumor predisposition",
          "paraganglioma caused by mutation in SDHB",
          "paragangliomas 4",
          "paragangliomas type 4",
          "pheochromocytoma/paraganglioma syndrome 4",
          "PGL4",
          "SDHB-related hereditary paraganglioma-pheochromocytoma syndrome",
          "carotid body tumors and multiple extraadrenal Pheochromocytomas",
          "carotid body tumours and multiple extraadrenal Pheochromocytomas",
          "paraganglioma, familial malignant",
          "paragangliomas, hereditary extraadrenal",
          "pheochromocytoma, extraadrenal and cervical paraganglioma",
          "pheochromocytoma, extraadrenal, and cervical paraganglioma",
          "pheochromocytoma, familial extraadrenal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007273"
    },
    {
      "id": 9501,
      "label": "pheochromocytoma/paraganglioma syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        2912,
        17682
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061216",
          "GARD:0007324",
          "MEDGEN:488134",
          "OMIM:168000",
          "UMLS:C3494181"
        ],
        "synonyms": [
          "SDHD paraganglioma",
          "SDHD-related tumor predisposition",
          "paraganglioma caused by mutation in SDHD",
          "paragangliomas 1",
          "paragangliomas 1, with or without deafness",
          "paragangliomas type 1",
          "pheochromocytoma/paraganglioma syndrome 1",
          "PGL1",
          "Paragangliomata",
          "carotid body tumors",
          "carotid body tumours",
          "chemodectomas",
          "glomus jugulare tumors",
          "glomus jugulare tumours",
          "glomus tumors, familial, 1",
          "paraganglioma, carotid body",
          "paragangliomas with sensorineural hearing loss",
          "paragangliomas, familial nonchromaffin, 1",
          "paragangliomas, familial, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008192"
    },
    {
      "id": 12245,
      "label": "pheochromocytoma/paraganglioma syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        2912,
        4753,
        7836,
        17682,
        20310,
        20329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061217",
          "GARD:0010544",
          "MEDGEN:357076",
          "MESH:C566646",
          "OMIM:601650",
          "UMLS:C1866552"
        ],
        "synonyms": [
          "SDHAF2 paraganglioma",
          "SDHAF2-related tumor predisposition",
          "paraganglioma caused by mutation in SDHAF2",
          "paragangliomas 2",
          "paragangliomas type 2",
          "pheochromocytoma/paraganglioma syndrome 2",
          "PGL2",
          "SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)",
          "glomus tumors, familial, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011121"
    },
    {
      "id": 12641,
      "label": "pheochromocytoma/paraganglioma syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        2912,
        17682
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061218",
          "GARD:0010545",
          "MEDGEN:340200",
          "MESH:C565335",
          "OMIM:605373",
          "UMLS:C1854336"
        ],
        "synonyms": [
          "SDHC paraganglioma",
          "SDHC-related tumor predisposition",
          "paraganglioma caused by mutation in SDHC",
          "paragangliomas 3",
          "paragangliomas type 3",
          "pheochromocytoma/paraganglioma syndrome 3",
          "PGL3",
          "SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)",
          "glomus tumors, familial, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011544"
    },
    {
      "id": 14628,
      "label": "pheochromocytoma/paraganglioma syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2912,
        4753,
        7836,
        17682,
        20310,
        20329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061220",
          "GARD:0015763",
          "MEDGEN:481622",
          "OMIM:614165",
          "UMLS:C3279992"
        ],
        "synonyms": [
          "SDHA paraganglioma",
          "paraganglioma caused by mutation in SDHA",
          "paragangliomas 5",
          "paragangliomas type 5",
          "pheochromocytoma/paraganglioma syndrome 5",
          "PGL5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013602"
    },
    {
      "id": 17532,
      "label": "sporadic pheochromocytoma/secreting paraganglioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2912
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007385",
          "MEDGEN:1636854",
          "Orphanet:276621",
          "UMLS:C4707333"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017190"
    },
    {
      "id": 19531,
      "label": "non-secreting paraganglioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2912
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019248",
          "MEDGEN:1634671",
          "Orphanet:94080",
          "SCTID:764999002",
          "UMLS:C4707263"
        ],
        "synonyms": [
          "non-functioning paraganglioma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed."
      },
      "child_count": 1,
      "reference_id": "MONDO:0019788"
    },
    {
      "id": 20295,
      "label": "parasympathetic paraganglioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2912,
        23498
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025281",
          "ICDO:8682/1",
          "MEDGEN:90779",
          "NCIT:C4217",
          "UMLS:C0334416"
        ],
        "synonyms": [
          "paraganglioma of parasympathetic nervous system",
          "parasympathetic Extra-adrenal paraganglioma",
          "parasympathetic Paraganglionic neoplasm",
          "parasympathetic nervous system paraganglioma",
          "parasympathetic paraganglioma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas."
      },
      "child_count": 8,
      "reference_id": "MONDO:0021052"
    },
    {
      "id": 20313,
      "label": "sympathetic paraganglioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2912,
        7265,
        23497
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025286",
          "ICDO:8681/1",
          "MEDGEN:137758",
          "MESH:C531777",
          "NCIT:C4216",
          "SCTID:399343007",
          "UMLS:C0334415"
        ],
        "synonyms": [
          "Chromaffinoma",
          "chromaffin neoplasm",
          "chromaffin tumor",
          "chromaffin tumour",
          "paraganglioma of sympathetic nervous system",
          "sympathetic Paraganglionic neoplasm",
          "sympathetic nervous system paraganglioma",
          "sympathetic paraganglioma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension."
      },
      "child_count": 6,
      "reference_id": "MONDO:0021072"
    },
    {
      "id": 22425,
      "label": "pheochromocytoma/paraganglioma syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2912,
        17682
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061221",
          "GARD:0016354",
          "MEDGEN:1681559",
          "OMIM:618464",
          "UMLS:C5193112"
        ],
        "synonyms": [
          "paragangliomas 6",
          "pheochromocytoma/paraganglioma syndrome 6",
          "PARAGANGLIOMAS 6",
          "PGL6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032767"
    },
    {
      "id": 22428,
      "label": "pheochromocytoma/paraganglioma syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2912,
        17682
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061222",
          "GARD:0016356",
          "MEDGEN:1673088",
          "OMIM:618475",
          "UMLS:C5193116"
        ],
        "synonyms": [
          "paragangliomas 7",
          "pheochromocytoma/paraganglioma syndrome 7",
          "PARAGANGLIOMAS 7",
          "PGL7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032771"
    }
  ],
  "roots": [
    {
      "id": 4464,
      "label": "autonomic nervous system neoplasm"
    },
    {
      "id": 19314,
      "label": "neuroendocrine neoplasm"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}