{
  "id": 11709,
  "label": "X-linked chondrodysplasia punctata 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010555",
  "properties": {
    "xrefs": [
      "GARD:0001296",
      "MEDGEN:777171",
      "NANDO:2201356",
      "NANDO:2201360",
      "OMIM:302950",
      "Orphanet:79345",
      "UMLS:C3669395"
    ],
    "synonyms": [
      "ARSE X-linked chondrodysplasia punctata",
      "X-linked chondrodysplasia punctata 1",
      "X-linked chondrodysplasia punctata caused by mutation in ARSE",
      "X-linked chondrodysplasia punctata caused by mutation in arse",
      "arse X-linked chondrodysplasia punctata",
      "brachytelephalangic chondrodysplasia punctata",
      "chondrodysplasia punctata, X-linked recessive, X-linked recessive",
      "CDPX1",
      "CPXR",
      "Cpxr",
      "arylsulfatase E deficiency",
      "chondrodysplasia punctata 1 X-linked recessive",
      "chondrodysplasia punctata 1, X-linked recessive",
      "chondrodysplasia punctata brachytelephalangic",
      "chondrodysplasia punctata, Brachytelephalangic",
      "chondrodysplasia punctata, brachytelephalangic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11710,
      "label": "X-linked chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16531,
        19104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060292",
          "GARD:0024737",
          "MEDGEN:538019",
          "UMLS:C0263627"
        ],
        "synonyms": [
          "CPXD",
          "chondrodysplasia punctata, X-linked",
          "X-linked dominant chondrodysplasia punctata",
          "chondrodysplasia punctata, X-linked dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "X-linked form of chondrodysplasia punctata."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010556"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11710,
      "label": "X-linked chondrodysplasia punctata"
    }
  ]
}