{
  "id": 21418,
  "label": "susceptibility to familial cutaneous melanoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024462",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "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"
    }
  ],
  "children": [
    {
      "id": 9291,
      "label": "melanoma, cutaneous malignant, susceptibility to, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027782",
          "MEDGEN:320506",
          "OMIM:155600",
          "SCTID:254819008",
          "UMLS:C1835047"
        ],
        "synonyms": [
          "melanoma, cutaneous malignant, 1",
          "melanoma, cutaneous malignant, susceptibility to, 1",
          "melanoma, malignant, somatic",
          "B-K Mole syndrome",
          "CMM1",
          "dysplastic Nevus syndrome, hereditary",
          "familial atypical Mole-malignant melanoma syndrome",
          "melanoma, cutaneous malignant",
          "melanoma, familial",
          "melanoma, malignant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007963"
    },
    {
      "id": 9292,
      "label": "melanoma, cutaneous malignant, susceptibility to, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        21418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10041",
          "GARD:0027783",
          "MEDGEN:331891",
          "MESH:D004416",
          "NCIT:C7584",
          "OMIM:155601",
          "UMLS:C1835044"
        ],
        "synonyms": [
          "Atypical Mole syndrome",
          "B-K Mole syndrome",
          "dysplastic nevus syndrome",
          "familial dysplastic nevi",
          "melanoma, cutaneous malignant, 2",
          "melanoma, cutaneous malignant, susceptibility to, 2",
          "melanoma, cutaneous malignant, susceptibility to, type 2",
          "CMM2",
          "susceptibility to cutaneous malignant melanoma 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0007964"
    },
    {
      "id": 13026,
      "label": "melanoma, cutaneous malignant, susceptibility to, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027809",
          "MEDGEN:334129",
          "OMIM:608035",
          "UMLS:C1842643"
        ],
        "synonyms": [
          "CMM4",
          "melanoma, cutaneous malignant, 4",
          "melanoma, cutaneous malignant, susceptibility to, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011954"
    },
    {
      "id": 13246,
      "label": "melanoma, cutaneous malignant, susceptibility to, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027812",
          "MEDGEN:373202",
          "OMIM:609048",
          "UMLS:C1836892"
        ],
        "synonyms": [
          "melanoma, cutaneous malignant, 3",
          "melanoma, cutaneous malignant, susceptibility to, 3",
          "melanoma, cutaneous malignant, susceptibility to, type 3",
          "CMM3",
          "susceptibility to cutaneous malignant melanoma 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012183"
    },
    {
      "id": 13882,
      "label": "melanoma, cutaneous malignant, susceptibility to, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027820",
          "MEDGEN:394200",
          "OMIM:612263",
          "UMLS:C2677089"
        ],
        "synonyms": [
          "CMM7",
          "melanoma, cutaneous malignant, 7",
          "melanoma, cutaneous malignant, susceptibility to, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012842"
    },
    {
      "id": 14170,
      "label": "melanoma, cutaneous malignant, susceptibility to, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027844",
          "MEDGEN:416516",
          "OMIM:613099",
          "UMLS:C2751295"
        ],
        "synonyms": [
          "melanoma, cutaneous malignant, 5",
          "melanoma, cutaneous malignant, susceptibility to, 5",
          "melanoma, cutaneous malignant, susceptibility to, type 5",
          "CMM5",
          "susceptibility to cutaneous malignant melanoma 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013133"
    },
    {
      "id": 14540,
      "label": "melanoma, cutaneous malignant, susceptibility to, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027848",
          "MEDGEN:462767",
          "OMIM:613972",
          "UMLS:C3151417"
        ],
        "synonyms": [
          "melanoma, cutaneous malignant, 6",
          "melanoma, cutaneous malignant, susceptibility to, 6",
          "melanoma, cutaneous malignant, susceptibility to, type 6",
          "CMM6",
          "susceptibility to cutaneous malignant melanoma 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013510"
    },
    {
      "id": 14777,
      "label": "melanoma, cutaneous malignant, susceptibility to, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013759"
    },
    {
      "id": 15065,
      "label": "melanoma, cutaneous malignant, susceptibility to, 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418,
        23982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027856",
          "MEDGEN:767488",
          "OMIM:615134",
          "UMLS:C3554574"
        ],
        "synonyms": [
          "melanoma, cutaneous malignant, 9",
          "melanoma, cutaneous malignant, susceptibility to, 9",
          "melanoma, cutaneous malignant, susceptibility to, type 9",
          "CMM9",
          "susceptibility to cutaneous malignant melanoma 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014056"
    },
    {
      "id": 15370,
      "label": "tumor predisposition syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21418,
        23982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018582",
          "MEDGEN:862913",
          "OMIM:615848",
          "OMIM:616568",
          "UMLS:C4014476"
        ],
        "synonyms": [
          "CMM10",
          "GLM9",
          "POT1 tumor predisposition",
          "POT1-TPD",
          "POT1-related tumor predisposition syndrome",
          "glioma susceptibility 9",
          "glioma susceptibility type 9",
          "malignant glioma caused by mutation in POT1",
          "melanoma, cutaneous malignant, susceptibility to, 10",
          "melanoma, cutaneous malignant, susceptibility to, type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any hereditary cancer predisposition due to variation(s) in the POT1 gene, which confers a predisposition to development of various types of benign and malignant neoplasms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014368"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    }
  ]
}