{
  "id": 16769,
  "label": "cutis laxa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016175",
  "properties": {
    "xrefs": [
      "DOID:3144",
      "GARD:0006227",
      "MEDGEN:8206",
      "MESH:D003483",
      "MedDRA:10011692",
      "NCIT:C84663",
      "NORD:1022",
      "Orphanet:209",
      "SCTID:58588007",
      "UMLS:C0010495",
      "icd11.foundation:1227401566"
    ],
    "synonyms": [
      "cutis laxa",
      "elastolysis",
      "generalised elastolysis",
      "generalized elastolysis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    }
  ],
  "children": [
    {
      "id": 16957,
      "label": "acquired cutis laxa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020586",
          "MEDGEN:590500",
          "Orphanet:228285",
          "SCTID:19726003",
          "UMLS:C0406549",
          "icd11.foundation:807277512"
        ],
        "synonyms": [
          "acquired cutis laxa",
          "cutis laxa acquisita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of cutis laxa that is acquired during the lifetime of the individual."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016446"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026092",
          "MEDGEN:609465",
          "OMIMPS:123700",
          "UMLS:C0432334"
        ],
        "synonyms": [
          "hereditary cutis laxa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of cutis laxa that is inherited."
      },
      "child_count": 28,
      "reference_id": "MONDO:0100237"
    }
  ],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    }
  ]
}