{
  "id": 24328,
  "label": "COL1A2-related Ehlers-Danlos syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100606",
  "properties": {
    "xrefs": [
      "GARD:0027289"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Ehler-Danlos syndrome caused by any variant in the COL1A2 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13359",
          "GARD:0006322",
          "ICD10CM:Q79.6",
          "ICD9:756.83",
          "MEDGEN:41720",
          "MESH:D004535",
          "MedDRA:10014316",
          "NANDO:1200645",
          "NANDO:2200607",
          "NCIT:C34568",
          "NORD:1080",
          "OMIMPS:130000",
          "Orphanet:98249",
          "SCTID:398114001",
          "UMLS:C0013720",
          "icd11.foundation:1122707206"
        ],
        "synonyms": [
          "Danlos Disease, Ehlers",
          "Danlos disease",
          "Disease, Ehlers Danlos",
          "Disease, Ehlers-Danlos",
          "Dystrophia mesodermalis congenita",
          "EDS",
          "Ehler Danlos Syndrome",
          "Ehlers Danlos Disease",
          "Ehlers Danlos Syndrome",
          "Ehlers Danlos syndrome",
          "Ehlers-Danlos Disease",
          "Ehlers-Danlos syndromes",
          "Fibrodysplasia elastica generalisata",
          "Hereditary collagen dysplasia",
          "Meekeren-Ehlers-Danlos syndrome",
          "Syndrome, Ehlers-Danlos",
          "danlos ehlers syndrome",
          "elastic skin",
          "skin elastic",
          "ED syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."
      },
      "child_count": 75,
      "reference_id": "MONDO:0020066"
    }
  ],
  "children": [
    {
      "id": 10403,
      "label": "Ehlers-Danlos syndrome, cardiac valvular type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24272,
        24328
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009159"
    },
    {
      "id": 22072,
      "label": "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16980,
        24328
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030855"
    },
    {
      "id": 22993,
      "label": "Ehlers-Danlos syndrome, arthrochalasia type, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8907,
        24328
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080728",
          "GARD:0016256",
          "GTR:AN1112503",
          "GTR:AN1112965",
          "GTR:AN1112966",
          "GTR:AN1112967",
          "MESH:C565061",
          "OMIM:617821",
          "Orphanet:99876",
          "icd11.foundation:380846833"
        ],
        "synonyms": [
          "EDS 7B",
          "EDS VIIB",
          "EDSARTH2",
          "Ehlers-Danlos syndrome type 7B",
          "Ehlers-Danlos syndrome, arthrochalasia type, 2",
          "Ehlers-Danlos syndrome, type VIIb, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0040501"
    }
  ],
  "roots": [
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    }
  ]
}