{
  "id": 8907,
  "label": "Ehlers-Danlos syndrome, arthrochalasia type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007525",
  "properties": {
    "xrefs": [
      "DOID:0080727",
      "GARD:0002084",
      "MEDGEN:1645042",
      "MESH:C562625",
      "NANDO:1200650",
      "NANDO:2201260",
      "NCIT:C125701",
      "Orphanet:1899",
      "SCTID:4170004",
      "UMLS:C4551623"
    ],
    "synonyms": [
      "EDS VII",
      "Ehlers-Danlos syndrome type 7",
      "Ehlers-Danlos syndrome, arthrochalasia type",
      "Ehlers-Danlos syndrome, type VII",
      "EDS 7A",
      "EDS 7B",
      "AEDS",
      "EDS VII, mutant procollagen type",
      "EDS7A (formerly)",
      "EDSARTH1",
      "Ehlers-Danlos syndrome type 7A (formerly)",
      "Ehlers-Danlos syndrome, arthrochalasia type, 1",
      "Ehlers-Danlos syndrome, type VII, autosomal dominant",
      "Ehlers-Danlos syndrome, type VIIA, autosomal dominant",
      "arthrochalasia EDS",
      "arthrochalasia Ehlers-Danlos syndrome",
      "arthrochalasis multiplex congenita"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 19970,
      "label": "Ehlers-Danlos syndrome type 7A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8907
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025168",
          "MEDGEN:854083",
          "OMIM:130060",
          "Orphanet:99875",
          "UMLS:C3508773",
          "icd11.foundation:165998215"
        ],
        "synonyms": [
          "EDS VIIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020521"
    },
    {
      "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"
    }
  ]
}