{
  "id": 14777,
  "label": "melanoma, cutaneous malignant, susceptibility to, 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013759",
  "properties": {
    "xrefs": [
      "GARD:0027852",
      "MEDGEN:463554",
      "OMIM:614456",
      "Orphanet:293822",
      "UMLS:C3152204"
    ],
    "synonyms": [
      "MITF-related melanoma and renal cell carcinoma predisposition syndrome",
      "melanoma, cutaneous malignant, susceptibility to, 8",
      "melanoma, cutaneous malignant, susceptibility to, type 8",
      "CMM8",
      "melanoma and renal cell carcinoma, susceptibility to",
      "susceptibility to cutaneous malignant melanoma 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 21418,
      "label": "susceptibility to familial cutaneous melanoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027916",
          "MEDGEN:1388845",
          "OMIMPS:155600",
          "UMLS:C4511622"
        ],
        "synonyms": [
          "hereditary cutaneous melanoma (disease)",
          "melanoma, cutaneous malignant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 10,
      "reference_id": "MONDO:0024462"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 21418,
      "label": "susceptibility to familial cutaneous melanoma"
    }
  ]
}