{
  "id": 21754,
  "label": "autosomal recessive cutis laxa type 2C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0027462",
  "properties": {
    "xrefs": [
      "DOID:0070140",
      "GARD:0025499",
      "MEDGEN:1385755",
      "OMIM:617402",
      "UMLS:C4479387"
    ],
    "synonyms": [
      "ARCL2C",
      "autosomal recessive cutis laxa type IIC",
      "cutis laxa, autosomal recessive, type 2C",
      "cutis laxa, autosomal recessive, type IIC"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19378,
      "label": "autosomal recessive cutis laxa type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16198,
        17672,
        18360,
        23977
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019134",
          "MEDGEN:609467",
          "Orphanet:90350",
          "UMLS:C0432337"
        ],
        "synonyms": [
          "ARCL2",
          "cutis laxa with joint laxity and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)."
      },
      "child_count": 20,
      "reference_id": "MONDO:0019573"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19378,
      "label": "autosomal recessive cutis laxa type 2"
    }
  ]
}