{
  "id": 22072,
  "label": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030855",
  "properties": {
    "xrefs": [
      "GARD:0018317",
      "MEDGEN:1751229",
      "OMIM:619120",
      "UMLS:C5436847"
    ],
    "synonyms": [
      "OIEDS Syndrome 2",
      "OIEDS2",
      "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16980,
      "label": "Ehlers-Danlos/osteogenesis imperfecta syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017156",
          "MEDGEN:1386497",
          "MESH:C565178",
          "OMIMPS:619115",
          "Orphanet:230857",
          "UMLS:C4518787"
        ],
        "synonyms": [
          "EDS/OI syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016470"
    },
    {
      "id": 24328,
      "label": "COL1A2-related Ehlers-Danlos syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027289"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Ehler-Danlos syndrome caused by any variant in the COL1A2 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100606"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16980,
      "label": "Ehlers-Danlos/osteogenesis imperfecta syndrome"
    },
    {
      "id": 24328,
      "label": "COL1A2-related Ehlers-Danlos syndrome"
    }
  ]
}