{
  "id": 20303,
  "label": "neurofibromatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021061",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 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": 8458,
      "label": "NF2-related schwannomatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111252",
          "GARD:0007193",
          "ICD10CM:Q85.02",
          "ICD9:237.72",
          "MEDGEN:18014",
          "MedDRA:10000523",
          "MedDRA:10029271",
          "NANDO:1200227",
          "NCIT:C3274",
          "OMIM:101000",
          "Orphanet:637",
          "SCTID:92503002",
          "UMLS:C0027832",
          "icd11.foundation:14808714"
        ],
        "synonyms": [
          "acoustic neurofibromatosis",
          "NF2",
          "NF2-related schwannomatosis",
          "SWNV",
          "bilateral acoustic neurofibromatosis",
          "central neurofibromatosis",
          "full NF2",
          "full neurofibromatosis type 2",
          "neurofibromatosis 2",
          "neurofibromatosis type 2",
          "nonmosaic NF2-related schwannomatosis",
          "nonmosaic neurofibromatosis type 2",
          "acoustic Schwannomas, bilateral",
          "acoustic neurinoma bilateral",
          "acoustic neurinoma, bilateral",
          "acoustic schwannomas bilateral",
          "neurofibromatosis central type",
          "neurofibromatosis type II",
          "neurofibromatosis, central type",
          "neurofibromatosis, type 2",
          "neurofibromatosis, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007039"
    },
    {
      "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"
    },
    {
      "id": 9401,
      "label": "neurofibromatosis, type IV, of Riccardi",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024600",
          "MEDGEN:67393",
          "MESH:C537392",
          "OMIM:162270",
          "UMLS:C0220695"
        ],
        "synonyms": [
          "neurofibromatosis type 4",
          "neurofibromatosis type IV",
          "neurofibromatosis, type IV, of Riccardi",
          "type IV neurofibromatosis of Riccardi",
          "NF4",
          "Nf 4",
          "neurofibromatosis, atypical",
          "neurofibromatosis, type IV, of RICCARDI",
          "neurofibromatosis, variant form(S) of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008081"
    },
    {
      "id": 12161,
      "label": "neurofibromatosis-Noonan syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507,
        20302,
        20303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111683",
          "GARD:0000372",
          "MEDGEN:419089",
          "MESH:C537393",
          "OMIM:601321",
          "Orphanet:638",
          "SCTID:715344006",
          "UMLS:C2931482",
          "icd11.foundation:679913930"
        ],
        "synonyms": [
          "NFNS",
          "neurofibromatosis type 1-Noonan syndrome",
          "neurofibromatosis-Noonan syndrome",
          "Noonan neurofibromatosis syndrome",
          "Noonan-neurofibromatosis syndrome",
          "neurofibromatosis with Noonan phenotype"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011035"
    },
    {
      "id": 18894,
      "label": "neurofibromatosis type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507,
        20302,
        20303,
        20691
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018975"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}