{
  "id": 14628,
  "label": "pheochromocytoma/paraganglioma syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013602",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2912,
      "label": "paraganglioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4464,
        19314,
        20691,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 48,
      "reference_id": "MONDO:0000448"
    },
    {
      "id": 4753,
      "label": "central nervous system cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7479,
        7694
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3620",
          "EFO:0000326",
          "GARD:0027614",
          "ICD9:239.7",
          "MEDGEN:87593",
          "MESH:D016543",
          "NANDO:2100007",
          "NCIT:C4627",
          "SCTID:126951006",
          "UMLS:C0348374"
        ],
        "synonyms": [
          "CNS neoplasm",
          "central nervous system tumor",
          "central nervous system tumour",
          "CNS cancer",
          "CNS malignant neoplasms",
          "CNS neoplasms, malignant",
          "cancer of CNS",
          "cancer of central nervous system",
          "cancer of the CNS",
          "cancer of the central nervous system",
          "central nervous system cancer",
          "central nervous system neoplasms, malignant",
          "central nervous system tumours",
          "malignant CNS neoplasm",
          "malignant CNS neoplasms",
          "malignant CNS tumor",
          "malignant CNS tumour",
          "malignant central nervous system neoplasm",
          "malignant central nervous system tumor",
          "malignant central nervous system tumour",
          "malignant neoplasm of CNS",
          "malignant neoplasm of central nervous system",
          "malignant neoplasm of the CNS",
          "malignant neoplasm of the central nervous system",
          "malignant tumor of CNS",
          "malignant tumor of central nervous system",
          "malignant tumor of the CNS",
          "malignant tumor of the central nervous system",
          "malignant tumour of CNS",
          "malignant tumour of central nervous system",
          "malignant tumour of the CNS",
          "malignant tumour of the central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A malignant neoplasm involving the central nervous system"
      },
      "child_count": 40,
      "reference_id": "MONDO:0002714"
    },
    {
      "id": 7836,
      "label": "malignant urinary system neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6733,
        20307
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3996",
          "EFO:1000363",
          "ICD10CM:C64-C68",
          "ICD9:189.9",
          "MEDGEN:738719",
          "NCIT:C192668",
          "NCIT:C9297",
          "SCTID:448233000",
          "UMLS:C1644719"
        ],
        "synonyms": [
          "cancer of renal system",
          "malignant neoplasm of renal system",
          "malignant renal system neoplasm",
          "malignant urinary system neoplasm",
          "malignant urinary tract neoplasm",
          "renal system cancer",
          "urinary system cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas."
      },
      "child_count": 20,
      "reference_id": "MONDO:0006295"
    },
    {
      "id": 17682,
      "label": "hereditary pheochromocytoma-paraganglioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        19314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011984",
          "MEDGEN:895844",
          "OMIMPS:168000",
          "Orphanet:29072",
          "UMLS:C4274332"
        ],
        "synonyms": [
          "familial pheochromocytoma-paraganglioma",
          "hereditary paraganglioma-pheochromocytoma syndrome",
          "hereditary pheochromocytoma-paraganglioma",
          "SDHx-related paraganglioma-pheochromocytoma",
          "hereditary paraganglioma-pheochromocytoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Neoplasm predisposition characterized by an increased risk of paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla)."
      },
      "child_count": 18,
      "reference_id": "MONDO:0017366"
    },
    {
      "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": 20329,
      "label": "peripheral nervous system cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3627,
        7479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:171.9",
          "MEDGEN:155556",
          "NCIT:C4961",
          "SCTID:254986007",
          "UMLS:C0751428"
        ],
        "synonyms": [
          "cancer of peripheral nervous system",
          "malignant PNS neoplasm",
          "malignant PNS tumor",
          "malignant PNS tumour",
          "malignant neoplasm of PNS",
          "malignant neoplasm of peripheral nerve",
          "malignant neoplasm of peripheral nervous system",
          "malignant neoplasm of the PNS",
          "malignant neoplasm of the peripheral nerve",
          "malignant neoplasm of the peripheral nervous system",
          "malignant neoplasms, peripheral nerve",
          "malignant peripheral nerve neoplasm",
          "malignant peripheral nerve tumor",
          "malignant peripheral nerve tumour",
          "malignant peripheral nervous system neoplasm",
          "malignant peripheral nervous system tumor",
          "malignant peripheral nervous system tumour",
          "malignant tumor of PNS",
          "malignant tumor of peripheral nerve",
          "malignant tumor of peripheral nervous system",
          "malignant tumor of the PNS",
          "malignant tumor of the peripheral nerve",
          "malignant tumor of the peripheral nervous system",
          "malignant tumour of PNS",
          "malignant tumour of peripheral nerve",
          "malignant tumour of peripheral nervous system",
          "malignant tumour of the PNS",
          "malignant tumour of the peripheral nerve",
          "malignant tumour of the peripheral nervous system",
          "peripheral nervous system cancer",
          "peripheral nervous system neoplasms, malignant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location"
      },
      "child_count": 36,
      "reference_id": "MONDO:0021089"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2912,
      "label": "paraganglioma"
    },
    {
      "id": 4753,
      "label": "central nervous system cancer"
    },
    {
      "id": 7836,
      "label": "malignant urinary system neoplasm"
    },
    {
      "id": 17682,
      "label": "hereditary pheochromocytoma-paraganglioma"
    },
    {
      "id": 20310,
      "label": "malignant endocrine neoplasm"
    },
    {
      "id": 20329,
      "label": "peripheral nervous system cancer"
    }
  ]
}