{
  "id": 17682,
  "label": "hereditary pheochromocytoma-paraganglioma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017366",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "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": 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"
    },
    {
      "id": 24719,
      "label": "TMEM127-related tumor predisposition",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        3032,
        9540,
        17682
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028019"
        ],
        "synonyms": [
          "TMEM127-related tumor predisposition"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the TMEM127 gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700345"
    },
    {
      "id": 24720,
      "label": "MAX-related tumor predisposition",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        3032,
        9540,
        17682
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028020"
        ],
        "synonyms": [
          "MAX-related tumor predisposition"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the MAX gene, characterized by an increased risk of pheochromocytoma and paraganglioma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700346"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 19314,
      "label": "neuroendocrine neoplasm"
    }
  ]
}