{
  "id": 6394,
  "label": "collagenopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0004603",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5762,
      "label": "connective tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:65",
          "EFO:1001986",
          "MEDGEN:1098",
          "MESH:D003240",
          "NANDO:2100172",
          "NCIT:C26729",
          "SCTID:105969002",
          "UMLS:C0009782"
        ],
        "synonyms": [
          "connective tissue disease",
          "connective tissue disease or disorder",
          "connective tissue diseases",
          "connective tissue disorder",
          "connective tissue disorders",
          "disease of connective tissue",
          "disease or disorder of connective tissue",
          "disease, connective tissue",
          "disorder of connective tissue",
          "primary disorder of connective tissue",
          "tissue disease, connective"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A disease involving the connective tissue."
      },
      "child_count": 16,
      "reference_id": "MONDO:0003900"
    }
  ],
  "children": [
    {
      "id": 6567,
      "label": "disseminated eosinophilic collagen disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6394,
        16456
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9499",
          "GARD:0024109",
          "ICD9:710.8",
          "MEDGEN:538043",
          "SCTID:423486005",
          "UMLS:C0263662"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0004803"
    },
    {
      "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"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 5762,
      "label": "connective tissue disorder"
    }
  ]
}