{
  "id": 12597,
  "label": "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011496",
  "properties": {
    "xrefs": [
      "GARD:0016812",
      "ICD9:755.63",
      "MEDGEN:609409",
      "MESH:C565740",
      "NANDO:2201352",
      "OMIM:604864",
      "Orphanet:93279",
      "SCTID:254064009",
      "UMLS:C0432214",
      "icd11.foundation:690266690"
    ],
    "synonyms": [
      "Namaqualand hip dysplasia",
      "OSCDP",
      "osteoarthritis with mild chondrodysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24324,
      "label": "COL2A1-related spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206,
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027287"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes."
      },
      "child_count": 12,
      "reference_id": "MONDO:0100602"
    },
    {
      "id": 29221,
      "label": "dysplasia of the proximal femoral epiphyses",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027112",
          "MEDGEN:481394",
          "UMLS:C3279764"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1."
      },
      "child_count": 3,
      "reference_id": "MONDO:1030002"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24324,
      "label": "COL2A1-related spondyloepiphyseal dysplasia"
    },
    {
      "id": 29221,
      "label": "dysplasia of the proximal femoral epiphyses"
    }
  ]
}