{
  "id": 14769,
  "label": "cutis laxa, autosomal dominant 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013751",
  "properties": {
    "xrefs": [
      "DOID:0070136",
      "GARD:0015802",
      "MEDGEN:482424",
      "OMIM:614434",
      "UMLS:C3280794"
    ],
    "synonyms": [
      "FBLN5 autosomal dominant cutis laxa",
      "autosomal dominant cutis laxa caused by mutation in FBLN5",
      "cutis laxa, autosomal dominant 2",
      "cutis laxa, autosomal dominant type 2",
      "ADCL2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19376,
      "label": "autosomal dominant cutis laxa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        23977
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070142",
          "GARD:0001639",
          "MEDGEN:120630",
          "MESH:C562627",
          "Orphanet:90348",
          "SCTID:111388003",
          "UMLS:C0268350",
          "icd11.foundation:720393698"
        ],
        "synonyms": [
          "ADCL",
          "cutis laxa, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019571"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19376,
      "label": "autosomal dominant cutis laxa"
    }
  ]
}