{
  "id": 29221,
  "label": "dysplasia of the proximal femoral epiphyses",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1030002",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 20997,
      "label": "type 2 collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6394,
        18360,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019186",
          "HGNC:2200",
          "MEDGEN:419326",
          "MESH:C535964",
          "NANDO:2201016",
          "Orphanet:93421",
          "UMLS:C2931073"
        ],
        "synonyms": [
          "COL2A1 disease or disorder",
          "collagenopathy type 2 alpha 1",
          "disease or disorder caused by mutation in COL2A1",
          "COL2A1",
          "cartilage collagen",
          "collagen II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
      },
      "child_count": 56,
      "reference_id": "MONDO:0022800"
    }
  ],
  "children": [
    {
      "id": 9221,
      "label": "Legg-Calve-Perthes disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18460,
        18462,
        29221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14415",
          "GARD:0006874",
          "MEDGEN:730669",
          "MESH:D007873",
          "MedDRA:10034735",
          "NCIT:C34766",
          "NORD:1353",
          "OMIM:150600",
          "Orphanet:2380",
          "SCTID:15739006",
          "UMLS:C1442965"
        ],
        "synonyms": [
          "Legg Calvé Perthes Disease",
          "Legg-CALVE-Perthes disease",
          "Legg-Calve-Perthes disease",
          "Legg-Calve-Perthes symptom",
          "Legg-Calve-Perthes syndrome",
          "Legg-Calvé-Perthes disease",
          "Legg-Perthes disease",
          "Osteochondrosis of the capital femoral epiphysis",
          "Perthe's disease",
          "Perthes disease",
          "aseptic necrosis of the capital femoral epiphysis",
          "osteochondritis of the capital femoral epiphysis",
          "LCPD",
          "Lcp",
          "osteochondritis deformans"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007885"
    },
    {
      "id": 12597,
      "label": "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24324,
        29221
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011496"
    },
    {
      "id": 23557,
      "label": "avascular necrosis of femoral head, primary, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13192,
        29221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025946",
          "MEDGEN:1639295",
          "OMIM:608805",
          "UMLS:C4551562"
        ],
        "synonyms": [
          "avascular necrosis of femoral head, primary, 1",
          "avascular necrosis of the femoral head",
          "ANFH1",
          "Femoral head, avascular necrosis of",
          "femoral head, aseptic necrosis of",
          "ischaemic necrosis of femoral head",
          "ischemic necrosis of femoral head",
          "osteonecrosis of femoral head"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054550"
    }
  ],
  "roots": [
    {
      "id": 20997,
      "label": "type 2 collagenopathy"
    }
  ]
}