{
  "id": 19376,
  "label": "autosomal dominant cutis laxa",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019571",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8802,
      "label": "cutis laxa, autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19376
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070130",
          "GARD:0015055",
          "MEDGEN:478169",
          "OMIM:123700",
          "UMLS:C3276539"
        ],
        "synonyms": [
          "cutis laxa, autosomal dominant",
          "ADCL1",
          "ELN autosomal dominant cutis laxa",
          "autosomal dominant cutis laxa caused by mutation in ELN",
          "cutis laxa, autosomal dominant 1",
          "cutis laxa, autosomal dominant type 1",
          "autosomal dominant cutis laxa 1"
        ],
        "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 ELN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007411"
    },
    {
      "id": 14769,
      "label": "cutis laxa, autosomal dominant 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19376
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013751"
    },
    {
      "id": 15700,
      "label": "cutis laxa, autosomal dominant 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16198,
        19376,
        23875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070131",
          "GARD:0016143",
          "MEDGEN:899774",
          "OMIM:616603",
          "UMLS:C4225268"
        ],
        "synonyms": [
          "ADCL3",
          "cutis laxa, autosomal dominant 3",
          "cutis laxa, autosomal dominant type 3",
          "autosomal dominant cutis laxa 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014706"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 23977,
      "label": "inherited cutis laxa"
    }
  ]
}