{
  "id": 24188,
  "label": "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100462",
  "properties": {
    "xrefs": [
      "GARD:0004133",
      "MEDGEN:777109",
      "OMIM:165800",
      "Orphanet:251262",
      "UMLS:C3665488"
    ],
    "synonyms": [
      "OD",
      "SSOAOD",
      "osteochondritis dissecans and short stature",
      "osteochondritis dissecans, short stature, and early-onset osteoarthritis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7060
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021667",
          "MEDGEN:1842788",
          "Orphanet:399380",
          "UMLS:C5680035"
        ],
        "synonyms": [
          "bone necrosis of genetic origin",
          "genetic osteonecrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of osteonecrosis that is caused by a modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018383"
    },
    {
      "id": 29322,
      "label": "ACAN-related short stature spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type."
      },
      "child_count": 6,
      "reference_id": "MONDO:1060149"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin"
    },
    {
      "id": 29322,
      "label": "ACAN-related short stature spectrum"
    }
  ]
}