{
  "id": 9396,
  "label": "schwannomatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008075",
  "properties": {
    "xrefs": [
      "DOID:3204",
      "GARD:0004768",
      "ICD10CM:Q85.03",
      "ICD9:237.73",
      "ICDO:9560/1",
      "MEDGEN:234775",
      "NCIT:C6557",
      "OMIMPS:162091",
      "Orphanet:93921",
      "UMLS:C1335929"
    ],
    "synonyms": [
      "NF3",
      "Neurinomatosis",
      "Schwannomatosis",
      "neurilemmomatosis",
      "neurofibromatosis type 3",
      "schwannomatosis",
      "schwannomatosis, NEC",
      "schwannomatosis, NOS",
      "congenital cutaneous neurilemmomatosis",
      "neurilemmomatosis congenital cutaneous",
      "neurilemmomatosis, congenital cutaneous",
      "neurinoma"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4599,
      "label": "skin neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6798,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3165",
          "EFO:0004198",
          "ICD9:239.2",
          "MEDGEN:19993",
          "MESH:D012878",
          "NCIT:C3372",
          "ONCOTREE:SKIN",
          "SCTID:126488004",
          "UMLS:C0037286"
        ],
        "synonyms": [
          "neoplasm of skin",
          "neoplasm of the skin",
          "neoplasm of zone of skin",
          "skin neoplasm",
          "skin neoplasms",
          "skin tumor",
          "skin tumour",
          "tumor of skin",
          "tumor of the skin",
          "tumor of zone of skin",
          "tumour of skin",
          "tumour of the skin",
          "tumour of zone of skin",
          "zone of skin neoplasm",
          "zone of skin neoplasm (disease)",
          "zone of skin tumor",
          "zone of skin tumour",
          "skin",
          "skin benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma."
      },
      "child_count": 34,
      "reference_id": "MONDO:0002531"
    },
    {
      "id": 4612,
      "label": "schwannoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4613,
        17200,
        20693
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3192",
          "DOID:955",
          "EFO:0000693",
          "GARD:0004767",
          "ICD9:215.9",
          "ICDO:9560/0",
          "MEDGEN:45053",
          "MedDRA:10029234",
          "MedDRA:10029235",
          "NANDO:2200103",
          "NCIT:C3269",
          "ONCOTREE:SCHW",
          "Orphanet:252164",
          "SCTID:404022001",
          "UMLS:C0027809",
          "icd11.foundation:378766741"
        ],
        "synonyms": [
          "benign neurilemmoma",
          "benign schwannoma",
          "neurilemmoma",
          "neurinoma",
          "peripheral fibroblastoma",
          "schwannoma",
          "schwannoma (WHO grade I)",
          "schwannoma, benign",
          "SCHW",
          "neurolemmoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported."
      },
      "child_count": 30,
      "reference_id": "MONDO:0002546"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0000953",
          "ICD9:709.09",
          "MEDGEN:57992",
          "Orphanet:79375",
          "SCTID:49765009",
          "UMLS:C0162834"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0019289"
    },
    {
      "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": 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": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 9400,
      "label": "neurofibromatosis, type III, mixed central and peripheral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9396
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015094",
          "MEDGEN:419422",
          "MESH:C537389",
          "OMIM:162260",
          "SCTID:254240003",
          "UMLS:C2931480"
        ],
        "synonyms": [
          "neurofibromatosis, type III, mixed central and peripheral",
          "NF3A",
          "Nf 3",
          "neurofibromas, palmar cutaneous",
          "neurofibromatosis, type III, Riccardi type",
          "neurofibromatosis, type III, of Riccardi"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008080"
    },
    {
      "id": 15303,
      "label": "LZTR1-related schwannomatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9396
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070481",
          "GARD:0016000",
          "MEDGEN:816613",
          "NCIT:C186704",
          "OMIM:615670",
          "UMLS:C3810283"
        ],
        "synonyms": [
          "Schwannomatosis type 2",
          "schwannomatosis 2",
          "SWNTS2",
          "schwannomatosis-2, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014299"
    },
    {
      "id": 21463,
      "label": "SMARCB1-related schwannomatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9396
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070480",
          "GARD:0025408",
          "MEDGEN:887689",
          "NCIT:C186703",
          "OMIM:162091",
          "UMLS:C4048809"
        ],
        "synonyms": [
          "SWNTS1",
          "schwannomatosis 1",
          "schwannomatosis, somatic",
          "neurilemmomatosis, congenital cutaneous",
          "schwannomatosis-1, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024517"
    },
    {
      "id": 29232,
      "label": "22q-related schwannomatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9396
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028140"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A schwannomatosis that causes a predisposition to develop multiple schwannoma. It is diagnosed when an individual does not meet criteria for NF2-related schwannomatosis, SMARCB1-related schwannomatosis, or LTZR1-related schwannomatosis and both of the following molecular features exist: a loss of heterozygosity (LOH) of the same chromosome 22q markers in two anatomically distinct tumors or hybrid nerve sheath tumors and a different NF2 pathogenic variant in each tumor which cannot be detected in unaffected tissue."
      },
      "child_count": 0,
      "reference_id": "MONDO:1030016"
    }
  ],
  "roots": [
    {
      "id": 4599,
      "label": "skin neoplasm"
    },
    {
      "id": 4612,
      "label": "schwannoma"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 20303,
      "label": "neurofibromatosis"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}