{
  "id": 9228,
  "label": "Noonan syndrome with multiple lentigines",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007893",
  "properties": {
    "xrefs": [
      "DOID:14291",
      "GARD:0001100",
      "ICD9:709.09",
      "MEDGEN:104494",
      "MESH:D044542",
      "MedDRA:10062901",
      "NCIT:C84820",
      "NORD:1360",
      "OMIMPS:151100",
      "Orphanet:500",
      "SCTID:111306001",
      "UMLS:C0175704",
      "icd11.foundation:939197023"
    ],
    "synonyms": [
      "Cardiomyopathic lentiginosis",
      "LEOPARD syndrome",
      "Noonan syndrome with multiple lentigines",
      "familial multiple lentigines syndrome",
      "generalised lentiginosis",
      "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness",
      "Moynahan syndrome",
      "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 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": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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": 13731,
      "label": "LEOPARD syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9228
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080549",
          "GARD:0015518",
          "MEDGEN:370588",
          "MESH:C537117",
          "OMIM:611554",
          "UMLS:C1969056"
        ],
        "synonyms": [
          "LEOPARD syndrome 2",
          "Leopard syndrome type 2",
          "leopard syndrome 2",
          "LPRD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012691"
    },
    {
      "id": 14413,
      "label": "LEOPARD syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9228
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080550",
          "GARD:0015694",
          "MEDGEN:462321",
          "OMIM:613707",
          "UMLS:C3150971"
        ],
        "synonyms": [
          "BRAF Noonan syndrome with multiple lentigines",
          "LEOPARD syndrome 3",
          "Leopard syndrome type 3",
          "Noonan syndrome with multiple lentigines caused by mutation in BRAF",
          "leopard syndrome 3",
          "LPRD3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013380"
    },
    {
      "id": 23834,
      "label": "LEOPARD syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9228
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080548",
          "GARD:0026037",
          "MEDGEN:1631694",
          "OMIM:151100",
          "UMLS:C4551484"
        ],
        "synonyms": [
          "LEOPARD syndrome 1",
          "LEOPARD syndrome type 1",
          "LPRD1",
          "lentiginosis, cardiomyopathic",
          "multiple lentigines syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100082"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome"
    }
  ]
}