{
  "id": 14772,
  "label": "cutis laxa, autosomal recessive, type 1B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013754",
  "properties": {
    "xrefs": [
      "DOID:0070133",
      "GARD:0015804",
      "MEDGEN:482428",
      "OMIM:614437",
      "UMLS:C3280798"
    ],
    "synonyms": [
      "ARCL1B",
      "autosomal recessive cutis laxa type IB",
      "cutis laxa, autosomal recessive, type IB"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
  },
  "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"
    }
  ]
}