{
  "id": 10278,
  "label": "Costello syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009026",
  "properties": {
    "xrefs": [
      "DOID:0050469",
      "GARD:0001550",
      "ICD9:799.89",
      "MEDGEN:108454",
      "MESH:D056685",
      "MedDRA:10067380",
      "NANDO:1200463",
      "NANDO:2200971",
      "NCIT:C84652",
      "NORD:1011",
      "OMIM:218040",
      "Orphanet:3071",
      "SCTID:309776008",
      "UMLS:C0587248",
      "icd11.foundation:1946512039"
    ],
    "synonyms": [
      "Costello syndrome",
      "FCS syndrome",
      "congenital myopathy with excess of muscle spindles",
      "faciocutaneoskeletal syndrome",
      "CSTLO",
      "myopathy, congenital, with excess of muscle spindles"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 19780,
      "label": "Noonan syndrome and Noonan-related syndrome"
    }
  ]
}