{
  "id": 8594,
  "label": "nevoid basal cell carcinoma syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007187",
  "properties": {
    "xrefs": [
      "DOID:0070365",
      "DOID:2512",
      "GARD:0007166",
      "MEDGEN:2554",
      "MESH:D001478",
      "MedDRA:10062804",
      "NANDO:2200828",
      "NCIT:C2892",
      "NORD:1507",
      "OMIMPS:109400",
      "Orphanet:377",
      "SCTID:69408002",
      "UMLS:C0004779",
      "icd11.foundation:1012745138"
    ],
    "synonyms": [
      "Gorlin syndrome",
      "Gorlin-Goltz syndrome",
      "NBCCS",
      "basal cell nevus syndrome",
      "multiple basal cell carcinomas",
      "nevoid basal cell cancer syndrome",
      "nevoid basal cell carcinoma syndrome",
      "BCNS",
      "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 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": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:82706",
          "MESH:D020752",
          "NANDO:2100220",
          "NCIT:C84348",
          "SCTID:78572006",
          "UMLS:C0265316"
        ],
        "synonyms": [
          "neurocutaneous syndrome",
          "Phacomatoses",
          "Phacomatosis",
          "Phakomatoses",
          "neurocutaneous disorder",
          "neurocutaneous disorders",
          "neuroectodermal dysplasia",
          "neuroectodermal dysplasia syndrome",
          "neuroectodermal dysplasia syndromes",
          "phakomatosis",
          "syndrome, neurocutaneous",
          "syndrome, neuroectodermal dysplasia",
          "syndromes, neurocutaneous",
          "syndromes, neuroectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."
      },
      "child_count": 9,
      "reference_id": "MONDO:0042983"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 25848,
      "label": "basal cell nevus syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026952",
          "OMIM:109400"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958174"
    },
    {
      "id": 25863,
      "label": "basal cell nevus syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070366",
          "GARD:0026965",
          "MEDGEN:1841087",
          "OMIM:620343",
          "UMLS:C5830451"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958189"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}