{
  "id": 13312,
  "label": "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012253",
  "properties": {
    "xrefs": [
      "GARD:0017015",
      "MEDGEN:324484",
      "MESH:C563736",
      "OMIM:609324",
      "Orphanet:166029",
      "UMLS:C1836315"
    ],
    "synonyms": [
      "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12721",
          "GARD:0010756",
          "HP:0002654",
          "ICD9:756.56",
          "MEDGEN:6461",
          "MedDRA:10028197",
          "NORD:1468",
          "OMIMPS:132400",
          "Orphanet:251",
          "SCTID:59708000",
          "UMLS:C0026760",
          "icd11.foundation:2009123831"
        ],
        "synonyms": [
          "Dominant Multiple Epiphyseal Dysplasia",
          "EDM",
          "MED",
          "Polyepiphyseal dysplasia",
          "multiple epiphyseal dysplasia",
          "multiple epiphyseal dysplasia (disease)",
          "polyepiphyseal dysplasia",
          "epiphyseal dysplasia, multiple"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6."
      },
      "child_count": 10,
      "reference_id": "MONDO:0016648"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia"
    }
  ]
}