{
  "id": 9501,
  "label": "pheochromocytoma/paraganglioma syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008192",
  "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)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 2912,
      "label": "paraganglioma"
    },
    {
      "id": 17682,
      "label": "hereditary pheochromocytoma-paraganglioma"
    }
  ]
}