{
  "id": 8574,
  "label": "atelosteogenesis type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007167",
  "properties": {
    "xrefs": [
      "GARD:0009287",
      "MEDGEN:82701",
      "MESH:C535396",
      "OMIM:108720",
      "Orphanet:1190",
      "SCTID:725141006",
      "UMLS:C0265283",
      "icd11.foundation:449799342"
    ],
    "synonyms": [
      "AO1",
      "AOI",
      "atelosteogenesis type 1",
      "giant cell chondrodysplasia",
      "spondylo-humero-femoral dysplasia",
      "atelosteogenesis, type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2887,
      "label": "atelosteogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050648",
          "MEDGEN:1806597",
          "OMIMPS:108720",
          "SCTID:43814000",
          "UMLS:C5574658"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000389"
    },
    {
      "id": 29336,
      "label": "FLNB-associated autosomal dominant filamin related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028175"
        ],
        "synonyms": [
          "FLNB-associated autosomal dominant filamin related bone disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal dominant filamin related bone disorder in which the cause of the disease is a variation in FLNB gene."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060173"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2887,
      "label": "atelosteogenesis"
    },
    {
      "id": 29336,
      "label": "FLNB-associated autosomal dominant filamin related bone disorder"
    }
  ]
}