{
  "id": 12161,
  "label": "neurofibromatosis-Noonan syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011035",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    }
  ],
  "children": [
    {
      "id": 9949,
      "label": "Watson syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070483",
          "GARD:0005540",
          "ICD9:709.8",
          "MEDGEN:107817",
          "OMIM:193520",
          "Orphanet:3444",
          "SCTID:403820003",
          "UMLS:C0553586",
          "icd11.foundation:1674178232"
        ],
        "synonyms": [
          "Watson syndrome",
          "WTSN",
          "cafe-Au-lait Spots with pulmonic stenosis",
          "pulmonic stenosis with cafe-Au-lait Spots"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008672"
    }
  ],
  "roots": [
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 20302,
      "label": "RASopathy"
    },
    {
      "id": 20303,
      "label": "neurofibromatosis"
    }
  ]
}