{
  "id": 23107,
  "label": "neurocutaneous syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0042983",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [
    {
      "id": 3921,
      "label": "tuberous sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16218,
        23107,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13515",
          "GARD:0007830",
          "ICD10CM:Q85.1",
          "ICD9:759.5",
          "MEDGEN:22518",
          "MESH:D014402",
          "MedDRA:10045138",
          "NANDO:1200607",
          "NANDO:2200826",
          "NCIT:C3424",
          "NORD:1802",
          "OMIMPS:191100",
          "Orphanet:805",
          "SCTID:7199000",
          "UMLS:C0041341",
          "icd11.foundation:1903085809"
        ],
        "synonyms": [
          "Bourneville disease",
          "Bourneville syndrome",
          "Bourneville's disease",
          "Bourneville's syndrome",
          "TSC",
          "epiloia",
          "tuberous sclerosis",
          "tuberous sclerosis complex",
          "tuberous sclerosis syndrome",
          "adenoma sebaceum",
          "adenoma sebaceum syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade."
      },
      "child_count": 8,
      "reference_id": "MONDO:0001734"
    },
    {
      "id": 8594,
      "label": "nevoid basal cell carcinoma syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16218,
        19507,
        23107,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 10,
      "reference_id": "MONDO:0007187"
    },
    {
      "id": 9792,
      "label": "Sturge-Weber syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        23107,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111563",
          "GARD:0007706",
          "ICD9:759.6",
          "MEDGEN:21361",
          "MESH:D013341",
          "MedDRA:10042265",
          "MedDRA:10057653",
          "NANDO:1200606",
          "NANDO:2200830",
          "NCIT:C3391",
          "NORD:1741",
          "OMIM:185300",
          "Orphanet:3205",
          "SCTID:19886006",
          "UMLS:C0038505",
          "icd11.foundation:1173035836"
        ],
        "synonyms": [
          "SWS",
          "Sturge Weber Syndrome",
          "Sturge Weber syndrome",
          "Sturge-Weber disease",
          "Sturge-Weber syndrome",
          "Sturge-Weber syndrome, somatic, mosaic",
          "Sturge-Weber-Dimitri syndrome",
          "Sturge-Weber-Krabbe angiomatosis",
          "Sturge-Weber-Krabbe syndrome",
          "encephalofacial angiomatosis",
          "encephalotrigeminal angiomatosis",
          "encephalotrigeminal syndrome",
          "SWS type I - Facial and leptomeningeal angiomas",
          "SWS type II - Facial angioma alone, no CNS involvement",
          "SWS type III - isolated leptomeningeal angiomas",
          "fourth phacomatosis",
          "leptomeningeal angiomatosis",
          "meningeal capillary angiomatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008501"
    },
    {
      "id": 9944,
      "label": "von Hippel-Lindau disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        23107,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14175",
          "GARD:0007855",
          "ICD9:759.6",
          "MEDGEN:42458",
          "MESH:D006623",
          "MedDRA:10047716",
          "NANDO:2200408",
          "NANDO:2200829",
          "NCIT:C3105",
          "NORD:1830",
          "OMIM:193300",
          "Orphanet:892",
          "SCTID:46659004",
          "UMLS:C0019562",
          "icd11.foundation:1985408165"
        ],
        "synonyms": [
          "Lindau disease",
          "VHL",
          "VHL-related von Hippel-Lindau disease",
          "Von Hippel-Lindau syndrome",
          "Von Hippel-Lindau syndrome (VHL)",
          "cerebroretinal angiomatosis",
          "familial cerebelloretinal angiomatosis",
          "von Hippel-Lindau disease",
          "von Hippel-Lindau syndrome",
          "von Hippel-Lindau syndrome, modifier of",
          "VHL syndrome",
          "Von Hippel Lindau disease",
          "Von Hippel-Lindau syndrome, Modifiers of"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008667"
    },
    {
      "id": 10799,
      "label": "neurocutaneous melanocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3049,
        6801,
        23107,
        23867,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007186",
          "MEDGEN:154259",
          "MESH:C537387",
          "NANDO:2200827",
          "NCIT:C175215",
          "OMIM:249400",
          "Orphanet:2481",
          "UMLS:C0544862",
          "icd11.foundation:403221860"
        ],
        "synonyms": [
          "NCM",
          "neurocutaneous melanosis",
          "neurocutaneous melanosis, somatic",
          "NCMS",
          "Neuromelanosis",
          "melanosis, neurocutaneous",
          "neurocutaneous melanosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009578"
    },
    {
      "id": 17636,
      "label": "phakomatosis pigmentokeratotica",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3049,
        6801,
        19507,
        23107,
        23867,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004311",
          "MEDGEN:419860",
          "MESH:C537893",
          "Orphanet:2874",
          "SCTID:723455009",
          "UMLS:C2931658",
          "icd11.foundation:960559196"
        ],
        "synonyms": [
          "Phacomatosis pigmentokeratotica",
          "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017317"
    },
    {
      "id": 17637,
      "label": "phakomatosis pigmentovascularis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        19140,
        19507,
        23107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004312",
          "ICD9:709.09",
          "MEDGEN:220888",
          "MESH:C537894",
          "Orphanet:2875",
          "SCTID:403545005",
          "UMLS:C1274879",
          "icd11.foundation:1768130414"
        ],
        "synonyms": [
          "phakomatosis pigmentovascularis",
          "port-wine stain with oculocutaneous melanosis",
          "PPv",
          "Phacomatosis pigmentovascularis",
          "association of cutaneous vascular malformations and different pigmentary disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0017318"
    },
    {
      "id": 18820,
      "label": "Wyburn-Mason syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5091,
        16257,
        19142,
        20682,
        23107,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007900",
          "MEDGEN:120534",
          "MESH:C536752",
          "MedDRA:10048661",
          "NORD:1863",
          "Orphanet:53719",
          "SCTID:6729006",
          "UMLS:C0265321"
        ],
        "synonyms": [
          "CAMS2",
          "Cerebrofacial arteriovenous metameric syndrome type 2",
          "bonnet-Dechaume-Blanc syndrome",
          "Wyburn Mason syndrome",
          "Wyburn Mason's syndrome",
          "arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes",
          "bonnet-Decaume-Blanc syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018892"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}