{
  "id": 29232,
  "label": "22q-related schwannomatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1030016",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9396,
      "label": "schwannomatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4599,
        4612,
        19140,
        19507,
        20303,
        23867
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 24,
      "reference_id": "MONDO:0008075"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9396,
      "label": "schwannomatosis"
    }
  ]
}