{
  "id": 8720,
  "label": "chondrodysplasia punctata, tibial-metacarpal type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007322",
  "properties": {
    "xrefs": [
      "GARD:0016715",
      "ICD9:756.59",
      "MEDGEN:98147",
      "MESH:C562961",
      "NANDO:2201359",
      "OMIM:118651",
      "Orphanet:79346",
      "SCTID:254083002",
      "UMLS:C0432224",
      "icd11.foundation:1513713461"
    ],
    "synonyms": [
      "chondrodysplasia punctata, Mt type",
      "chondrodysplasia punctata, tibia-metacarpal type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8719,
      "label": "autosomal dominant chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        16531
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060293",
          "GARD:0001298",
          "MEDGEN:303176",
          "MESH:C563248",
          "OMIM:118650",
          "Orphanet:79344",
          "UMLS:C1442935"
        ],
        "synonyms": [
          "chondrodysplasia punctata Sheffield type",
          "chondrodysplasia punctata, Sheffield type",
          "chondrodysplasia punctata, autosomal dominant",
          "chondrodysplasia punctata due to vitamin K deficiency",
          "chondrodysplasia punctata due to warfarin teratogenicity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal dominant form of chondrodysplasia punctata."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007321"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8719,
      "label": "autosomal dominant chondrodysplasia punctata"
    }
  ]
}