{
  "id": 18894,
  "label": "neurofibromatosis type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018975",
  "properties": {
    "xrefs": [
      "DECIPHER:15",
      "DOID:0111253",
      "GARD:0007866",
      "ICD10CM:Q85.01",
      "ICD9:237.71",
      "MEDGEN:18013",
      "MESH:C538607",
      "MESH:D009456",
      "MedDRA:10047712",
      "NANDO:1200225",
      "NANDO:1200226",
      "NANDO:2100287",
      "NANDO:2201003",
      "NCIT:C3273",
      "NORD:1502",
      "OMIM:162200",
      "Orphanet:636",
      "SCTID:92824003",
      "UMLS:C0027831",
      "icd11.foundation:337970533"
    ],
    "synonyms": [
      "neurofibromatosis",
      "NF1",
      "Neurofibromatosis 1",
      "Nf1-Microdeletion syndrome",
      "neurofibromatosis 1",
      "neurofibromatosis type 1",
      "neurofibromatosis type i",
      "neurofibromatosis, type 1",
      "nonmosaic NF1",
      "nonmosaic neurofibromatosis type 1",
      "peripheral neurofibromatosis",
      "Recklinghausen's disease",
      "Von Recklinghausen disease",
      "neurofibromatosis type 1 microdeletion syndrome",
      "neurofibromatosis, peripheral type",
      "neurofibromatosis, type I",
      "type 1 neurofibromatosis",
      "von Reklinghausen disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 20302,
      "label": "RASopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080690",
          "EFO:1001502",
          "GARD:0022213",
          "MEDGEN:1792298",
          "NCIT:C179667",
          "Orphanet:536391",
          "UMLS:C5555857"
        ],
        "synonyms": [
          "RASopathy",
          "Ras protein signal transduction disease",
          "disorder of Ras protein signal transduction"
        ],
        "definition": "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."
      },
      "child_count": 8,
      "reference_id": "MONDO:0021060"
    },
    {
      "id": 20303,
      "label": "neurofibromatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16218,
        23107,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8712",
          "EFO:0008514",
          "GARD:0010420",
          "ICD10CM:Q85.0",
          "ICD9:237.7",
          "ICD9:237.70",
          "ICDO:9540/1",
          "MEDGEN:58149",
          "MESH:D017253",
          "NANDO:1200225",
          "NANDO:1200226",
          "NANDO:1200227",
          "NANDO:2201003",
          "NCIT:C6727",
          "SCTID:19133005",
          "UMLS:C0162678"
        ],
        "synonyms": [
          "Recklinghausen's neurofibromatosis",
          "acoustic neurofibromatosis",
          "central Neurofibromatosis",
          "neurofibromatosis",
          "neurofibromatosis syndrome",
          "peripheral Neurofibromatosis",
          "type IV neurofibromatosis of riccardi",
          "von Reklinghausen disease",
          "neurofibromatosis type 2",
          "neurofibromatosis type 4",
          "neurofibromatosis type IV"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist."
      },
      "child_count": 20,
      "reference_id": "MONDO:0021061"
    },
    {
      "id": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    }
  ],
  "children": [
    {
      "id": 9398,
      "label": "neurofibromatosis, familial spinal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18894
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070482",
          "GARD:0024599",
          "MEDGEN:320296",
          "MESH:C563523",
          "OMIM:162210",
          "UMLS:C1834235"
        ],
        "synonyms": [
          "neurofibromatosis, familial spinal",
          "Fsnf"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008078"
    },
    {
      "id": 14390,
      "label": "chromosome 17q11.2 deletion syndrome, 1.4Mb",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17334,
        18894
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060403",
          "GARD:0005408",
          "MEDGEN:1726802",
          "MESH:C563524",
          "OMIM:613675",
          "Orphanet:137634",
          "Orphanet:97685",
          "SCTID:722122000",
          "UMLS:C5401456"
        ],
        "synonyms": [
          "17q11 microdeletion syndrome",
          "Del(17)(q11)",
          "MMFD",
          "NF1 microdeletion syndrome",
          "NF1 microduplication syndrome",
          "RNF135-related overgrowth syndrome",
          "Van Asperen syndrome",
          "chromosome 17q11.2 deletion syndrome",
          "chromosome 17q11.2 deletion syndrome, 1.4-MB",
          "macrocephaly, macrosomia, and facial dysmorphism syndrome",
          "monosomy 17q11",
          "neurofibromatosis 1 microdeletion syndrome",
          "neurofibromatosis type 1 microdeletion syndrome",
          "overgrowth-macrocephaly-facial dysmorphism syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013357"
    },
    {
      "id": 18341,
      "label": "neurofibromatosis type 1 due to NF1 mutation or intragenic deletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18894
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017570",
          "MEDGEN:1842855",
          "Orphanet:363700",
          "UMLS:C5779636"
        ],
        "synonyms": [
          "Von Recklinghausen disease due to NF1 mutation or intragenic deletion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018208"
    }
  ],
  "roots": [
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 20302,
      "label": "RASopathy"
    },
    {
      "id": 20303,
      "label": "neurofibromatosis"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    }
  ]
}