{
  "id": 24719,
  "label": "TMEM127-related tumor predisposition",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700345",
  "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."
  },
  "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": 3032,
      "label": "benign endocrine neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4223,
        6887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060089",
          "ICD9:227.8",
          "ICD9:227.9",
          "MEDGEN:87577",
          "NCIT:C4621",
          "SCTID:92085000",
          "UMLS:C0347524"
        ],
        "synonyms": [
          "benign endocrine gland neoplasm",
          "benign endocrine gland tumor",
          "benign endocrine gland tumour",
          "benign endocrine neoplasm",
          "benign endocrine tumor",
          "benign endocrine tumour",
          "benign neoplasm of endocrine gland",
          "benign neoplasm of the endocrine gland",
          "benign tumor of endocrine gland",
          "benign tumor of the endocrine gland",
          "benign tumour of endocrine gland",
          "benign tumour of the endocrine gland",
          "endocrine gland benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma."
      },
      "child_count": 28,
      "reference_id": "MONDO:0000627"
    },
    {
      "id": 9540,
      "label": "pheochromocytoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050771",
          "GARD:0015105",
          "MEDGEN:18419",
          "MESH:D010673",
          "OMIM:171300",
          "ONCOTREE:PHC",
          "UMLS:C0031511",
          "icd11.foundation:13029801"
        ],
        "synonyms": [
          "phaeochromocytoma",
          "pheochromocytoma",
          "pheochromocytoma, susceptibility to"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0008233"
    },
    {
      "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": 3032,
      "label": "benign endocrine neoplasm"
    },
    {
      "id": 9540,
      "label": "pheochromocytoma"
    },
    {
      "id": 17682,
      "label": "hereditary pheochromocytoma-paraganglioma"
    }
  ]
}