{
  "id": 19372,
  "label": "Ehlers-Danlos syndrome, classic type, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019567",
  "properties": {
    "xrefs": [
      "DOID:14720",
      "GARD:0025140",
      "MEDGEN:78660",
      "MESH:C536194",
      "NCIT:C125696",
      "OMIM:130000",
      "Orphanet:90309",
      "SCTID:83470009",
      "UMLS:C0268335"
    ],
    "synonyms": [
      "EDS I",
      "EDSCL1",
      "Ehlers-Danlos syndrome, classic type, 1",
      "Ehlers-Danlos syndrome, type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8904,
      "label": "Ehlers-Danlos syndrome, classic type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002088",
          "MEDGEN:909864",
          "NANDO:1200646",
          "NANDO:2201256",
          "Orphanet:287",
          "SCTID:715318006",
          "UMLS:C4225429"
        ],
        "synonyms": [
          "EDS, classic type",
          "Ehlers-Danlos syndrome classic type",
          "Ehlers-Danlos syndrome, classic type",
          "EDS I",
          "EDS I, formerly",
          "EDS II",
          "EDS II, formerly",
          "Ehlers Danlos syndrome, mild classic type",
          "Ehlers Danlos syndrome, mild classic type, formerly",
          "Ehlers Danlos syndrome, mitis type",
          "Ehlers Danlos syndrome, mitis type, formerly",
          "Ehlers-Danlos syndrome classical type",
          "Ehlers-Danlos syndrome type 1 (formerly)",
          "Ehlers-Danlos syndrome type 2",
          "Ehlers-Danlos syndrome type 2 (formerly)",
          "Ehlers-Danlos syndrome, gravis type",
          "Ehlers-Danlos syndrome, gravis type, formerly",
          "Ehlers-Danlos syndrome, severe classic type",
          "Ehlers-Danlos syndrome, severe classic type, formerly",
          "Ehlers-Danlos syndrome, type I",
          "Ehlers-Danlos syndrome, type I, formerly",
          "Ehlers-Danlos syndrome, type II",
          "Ehlers-Danlos syndrome, type II, formerly",
          "classic Ehlers-Danlos syndrome",
          "classical Ehlers-Danlos syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007522"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8904,
      "label": "Ehlers-Danlos syndrome, classic type"
    }
  ]
}