{
  "id": 13552,
  "label": "camptodactyly-tall stature-scoliosis-hearing loss syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012504",
  "properties": {
    "xrefs": [
      "DOID:0111160",
      "GARD:0010012",
      "MEDGEN:355844",
      "MESH:C537975",
      "OMIM:610474",
      "Orphanet:85164",
      "UMLS:C1864852"
    ],
    "synonyms": [
      "CATSHL syndrome",
      "CATSHLS",
      "camptodactyly, tall stature, and hearing loss syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2905,
      "label": "autosomal genetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050739",
          "ICD9:758.5",
          "MEDGEN:539205",
          "SCTID:1899006",
          "UMLS:C0265384"
        ],
        "synonyms": [
          "autosomal hereditary disorder",
          "autosomal inherited disease",
          "autosomal inherited disorder"
        ],
        "definition": "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000429"
    },
    {
      "id": 19469,
      "label": "FGFR3-related chondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019185",
          "MEDGEN:1842866",
          "Orphanet:93420",
          "UMLS:C5681604"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0019685"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2905,
      "label": "autosomal genetic disease"
    },
    {
      "id": 19469,
      "label": "FGFR3-related chondrodysplasia"
    }
  ]
}