{
  "id": 16414,
  "label": "multiple epiphyseal dysplasia due to collagen 9 anomaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015627",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6394,
      "label": "collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5762
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0004603"
    },
    {
      "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"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [
    {
      "id": 11980,
      "label": "epiphyseal dysplasia, multiple, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16414
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070298",
          "GARD:0009791",
          "MEDGEN:333092",
          "MESH:C535502",
          "OMIM:600204",
          "UMLS:C1838429"
        ],
        "synonyms": [
          "COL9A2 multiple epiphyseal dysplasia (disease)",
          "epiphyseal dysplasia, multiple, 2",
          "epiphyseal dysplasia, multiple, type 2",
          "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2",
          "EDM2",
          "epiphyseal dysplasia multiple 2",
          "multiple epiphyseal dysplasia 2"
        ],
        "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 COL9A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010844"
    },
    {
      "id": 12093,
      "label": "epiphyseal dysplasia, multiple, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16414
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070304",
          "GARD:0009792",
          "MEDGEN:322091",
          "MESH:C535503",
          "OMIM:600969",
          "UMLS:C1832998"
        ],
        "synonyms": [
          "COL9A3 multiple epiphyseal dysplasia (disease)",
          "epiphyseal dysplasia, multiple, 3",
          "epiphyseal dysplasia, multiple, 3, with or without myopathy",
          "epiphyseal dysplasia, multiple, type 3",
          "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3",
          "EDM3",
          "epiphyseal dysplasia multiple 3",
          "epiphyseal dysplasia, multiple, 3, with myopathy",
          "multiple epiphyseal dysplasia 3"
        ],
        "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 COL9A3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010964"
    },
    {
      "id": 14618,
      "label": "epiphyseal dysplasia, multiple, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16414
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013591"
    }
  ],
  "roots": [
    {
      "id": 6394,
      "label": "collagenopathy"
    },
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}