{
  "id": 10303,
  "label": "cutis laxa, autosomal recessive, type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009052",
  "properties": {
    "xrefs": [
      "DOID:0070135",
      "GARD:0015157",
      "MEDGEN:1846304",
      "MESH:C562628",
      "OMIM:219100",
      "SCTID:59451000",
      "UMLS:C5848058"
    ],
    "synonyms": [
      "ARCL1",
      "ARCL1A",
      "autosomal recessive cutis laxa type IA",
      "cutis laxa, autosomal recessive",
      "cutis laxa, autosomal recessive, type IA"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19377,
      "label": "autosomal recessive cutis laxa type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        23977
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070144",
          "GARD:0008480",
          "MEDGEN:78663",
          "MESH:C536225",
          "Orphanet:90349",
          "PMID:19401719",
          "SCTID:254222002",
          "UMLS:C0268351"
        ],
        "synonyms": [
          "ARCL1",
          "autosomal recessive cutis laxa type 1",
          "autosomal recessive cutis laxa with severe systemic involvement",
          "autosomal recessive cutis laxa, pulmonary emphysema type",
          "autosomal recessive cutis laxa type I",
          "cutis laxa, autosomal recessive type 1",
          "cutis laxa, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019572"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19377,
      "label": "autosomal recessive cutis laxa type 1"
    }
  ]
}