{
  "id": 19237,
  "label": "Astley-Kendall dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019408",
  "properties": {
    "xrefs": [
      "GARD:0019050",
      "MEDGEN:224886",
      "MESH:C535392",
      "NANDO:2201362",
      "Orphanet:85175",
      "SCTID:389263004",
      "UMLS:C1300228",
      "icd11.foundation:1367227076"
    ],
    "synonyms": [
      "Astley-Kendall syndrome",
      "short limbed dwarfism with extensive stippling"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19476,
      "label": "chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2581",
          "GARD:0008542",
          "ICD10CM:Q77.3",
          "ICD9:756.59",
          "MEDGEN:3052",
          "MESH:D002806",
          "NANDO:2201017",
          "NCIT:C84632",
          "Orphanet:93442",
          "SCTID:360507004",
          "UMLS:C0008445",
          "icd11.foundation:1923035846"
        ],
        "synonyms": [
          "CDP",
          "chondrodysplasia calcificans congenita",
          "chondrodysplasia punctata (stippled epiphyses) Group",
          "chondrodysplasia punctata congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019701"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19476,
      "label": "chondrodysplasia punctata"
    }
  ]
}