{
  "id": 14618,
  "label": "epiphyseal dysplasia, multiple, 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013591",
  "properties": {
    "xrefs": [
      "DOID:0070301",
      "GARD:0013376",
      "MEDGEN:436517",
      "OMIM:614135",
      "UMLS:C2675767"
    ],
    "synonyms": [
      "COL9A1 multiple epiphyseal dysplasia (disease)",
      "epiphyseal dysplasia, multiple, 6",
      "epiphyseal dysplasia, multiple, type 6",
      "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1",
      "EDM6",
      "multiple epiphyseal dysplasia 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16414,
      "label": "multiple epiphyseal dysplasia due to collagen 9 anomaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6394,
        17117,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070305",
          "GARD:0015024",
          "MEDGEN:1647610",
          "NANDO:2201016",
          "Orphanet:166002",
          "SCTID:766717008",
          "UMLS:C4707798",
          "icd11.foundation:741183905"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported."
      },
      "child_count": 9,
      "reference_id": "MONDO:0015627"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16414,
      "label": "multiple epiphyseal dysplasia due to collagen 9 anomaly"
    }
  ]
}