{
  "id": 18913,
  "label": "Noonan syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018997",
  "properties": {
    "xrefs": [
      "DOID:3490",
      "GARD:0010955",
      "ICD9:759.89",
      "MEDGEN:18073",
      "MESH:D009634",
      "MedDRA:10029748",
      "NANDO:1200680",
      "NANDO:2200413",
      "NCIT:C34854",
      "NORD:1513",
      "OMIMPS:163950",
      "Orphanet:648",
      "SCTID:205824006",
      "UMLS:C0028326",
      "icd11.foundation:1044395354"
    ],
    "synonyms": [
      "Noonan syndrome",
      "Noonan's syndrome",
      "Noonan-Ehmke syndrome",
      "Ullrich-Noonan syndrome",
      "pseudo-Ullrich-Turner syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065,
        19049
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050580",
          "GARD:0013057",
          "ICD10CM:Q82.0",
          "ICD9:757.0",
          "MEDGEN:140763",
          "OMIMPS:153100",
          "SCTID:254199006",
          "UMLS:C0398368"
        ],
        "synonyms": [
          "hereditary lymphedema",
          "lymphedema, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation."
      },
      "child_count": 84,
      "reference_id": "MONDO:0019313"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20302,
        20383,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019561",
          "MEDGEN:1826127",
          "MESH:C537846",
          "Orphanet:98733",
          "UMLS:C5681679"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0020297"
    }
  ],
  "children": [
    {
      "id": 9422,
      "label": "Noonan syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060578",
          "GARD:0007223",
          "MEDGEN:1638960",
          "NCIT:C75459",
          "OMIM:163950",
          "UMLS:C4551602"
        ],
        "synonyms": [
          "NS1",
          "Noonan syndrome 1",
          "Noonan syndrome type 1",
          "Male Turner syndrome",
          "Noonan syndrome",
          "Turner phenotype with normal karyotype",
          "female pseudo-Turner syndrome",
          "pterygium colli syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Noonan syndrome caused by mutations in the PTPN11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008104"
    },
    {
      "id": 12629,
      "label": "Noonan syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060580",
          "GARD:0010698",
          "MEDGEN:344290",
          "MESH:C548081",
          "NCIT:C176930",
          "OMIM:605275",
          "UMLS:C1854469"
        ],
        "synonyms": [
          "NS2",
          "Noonan syndrome 2",
          "Noonan syndrome type 2",
          "Noonan syndrome autosomal recessive",
          "Noonan syndrome, autosomal recessive",
          "autosomal recessive Noonan syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011531"
    },
    {
      "id": 13423,
      "label": "Noonan syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060581",
          "GARD:0009885",
          "MEDGEN:349931",
          "MESH:C537847",
          "NCIT:C176931",
          "OMIM:609942",
          "UMLS:C1860991"
        ],
        "synonyms": [
          "KRAS Noonan syndrome",
          "KRAS gene related Noonan syndrome",
          "NS3",
          "Noonan syndrome 3",
          "Noonan syndrome caused by mutation in KRAS",
          "Noonan syndrome type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012371"
    },
    {
      "id": 13595,
      "label": "Noonan syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060582",
          "GARD:0010699",
          "MEDGEN:339908",
          "MESH:C548082",
          "NCIT:C176932",
          "OMIM:610733",
          "UMLS:C1853120"
        ],
        "synonyms": [
          "NS4",
          "Noonan syndrome 4",
          "Noonan syndrome caused by mutation in SOS1",
          "Noonan syndrome type 4",
          "SOS1 Noonan syndrome",
          "SOS1 gene related Noonan syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012547"
    },
    {
      "id": 13730,
      "label": "Noonan syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060583",
          "GARD:0010700",
          "MEDGEN:370589",
          "MESH:C548083",
          "NCIT:C176933",
          "OMIM:611553",
          "UMLS:C1969057"
        ],
        "synonyms": [
          "NS5",
          "Noonan syndrome 5",
          "Noonan syndrome caused by mutation in RAF1",
          "Noonan syndrome type 5",
          "RAF1 Noonan syndrome",
          "RAF1 gene related Noonan syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012690"
    },
    {
      "id": 14222,
      "label": "Noonan syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060584",
          "GARD:0010701",
          "MEDGEN:413028",
          "MESH:C548084",
          "NCIT:C176934",
          "OMIM:613224",
          "UMLS:C2750732"
        ],
        "synonyms": [
          "NRAS Noonan syndrome",
          "NS6",
          "Noonan syndrome 6",
          "Noonan syndrome caused by mutation in NRAS",
          "Noonan syndrome type 6",
          "NRAS gene related Noonan syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013186"
    },
    {
      "id": 14412,
      "label": "Noonan syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060585",
          "GARD:0015693",
          "MEDGEN:462320",
          "NCIT:C176935",
          "OMIM:613706",
          "UMLS:C3150970"
        ],
        "synonyms": [
          "BRAF Noonan syndrome",
          "NS7",
          "Noonan syndrome 7",
          "Noonan syndrome caused by mutation in BRAF",
          "Noonan syndrome type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013379"
    },
    {
      "id": 15150,
      "label": "Noonan syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060586",
          "GARD:0015949",
          "MEDGEN:815563",
          "NCIT:C176936",
          "OMIM:615355",
          "UMLS:C3809233"
        ],
        "synonyms": [
          "NS8",
          "Noonan syndrome 8",
          "Noonan syndrome caused by mutation in RIT1",
          "Noonan syndrome type 8",
          "RIT1 Noonan syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014143"
    },
    {
      "id": 15686,
      "label": "Noonan syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060587",
          "GARD:0016137",
          "MEDGEN:896352",
          "NCIT:C176937",
          "OMIM:616559",
          "UMLS:C4225282"
        ],
        "synonyms": [
          "NS9",
          "Noonan syndrome 9",
          "Noonan syndrome caused by mutation in SOS2",
          "Noonan syndrome type 9",
          "SOS2 Noonan syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014691"
    },
    {
      "id": 15688,
      "label": "Noonan syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060588",
          "GARD:0016139",
          "MEDGEN:902892",
          "NCIT:C176938",
          "OMIM:616564",
          "UMLS:C4225280"
        ],
        "synonyms": [
          "LZTR1 Noonan syndrome",
          "NS10",
          "Noonan syndrome 10",
          "Noonan syndrome caused by mutation in LZTR1",
          "Noonan syndrome type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014693"
    },
    {
      "id": 21996,
      "label": "Noonan syndrome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025608",
          "MEDGEN:1807988",
          "OMIM:619745",
          "UMLS:C5676916"
        ],
        "synonyms": [
          "NS14",
          "Noonan syndrome 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030679"
    },
    {
      "id": 22443,
      "label": "Noonan syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112169",
          "GARD:0016357",
          "MEDGEN:1681177",
          "NCIT:C177119",
          "OMIM:618499",
          "UMLS:C5193130"
        ],
        "synonyms": [
          "NOONAN SYNDROME 11",
          "NS11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032786"
    },
    {
      "id": 22495,
      "label": "noonan syndrome 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112170",
          "GARD:0016369",
          "MEDGEN:1684730",
          "NCIT:C177120",
          "OMIM:618624",
          "UMLS:C5231432"
        ],
        "synonyms": [
          "NOONAN SYNDROME 12",
          "NS12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032839"
    },
    {
      "id": 22733,
      "label": "Noonan syndrome 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18913
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112161",
          "GARD:0016419",
          "MEDGEN:1761918",
          "NCIT:C177121",
          "OMIM:619087",
          "UMLS:C5436773"
        ],
        "synonyms": [
          "NS13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033669"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome"
    }
  ]
}