{
  "id": 10403,
  "label": "Ehlers-Danlos syndrome, cardiac valvular type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009159",
  "properties": {
    "xrefs": [
      "DOID:0080730",
      "GARD:0012613",
      "MEDGEN:929458",
      "MESH:C536200",
      "OMIM:225320",
      "Orphanet:230851",
      "SCTID:720858001",
      "UMLS:C4303789",
      "icd11.foundation:531375176"
    ],
    "synonyms": [
      "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type",
      "EDS, cardiac valvular type",
      "EDSCV",
      "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form",
      "cardiac valvular form of Ehlers-Danlos syndrome",
      "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome",
      "cardiac-valvular EDS",
      "cardiac-valvular Ehlers-Danlos syndrome",
      "cvEDS",
      "Ehlers-Danlos syndrome, arthrochalasis type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    },
    {
      "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": 24272,
      "label": "cardiogenetic disease"
    },
    {
      "id": 24328,
      "label": "COL1A2-related Ehlers-Danlos syndrome"
    }
  ]
}