{
  "id": 14089,
  "label": "autosomal recessive cutis laxa type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013051",
  "properties": {
    "xrefs": [
      "DOID:0070137",
      "GARD:0001641",
      "MEDGEN:414526",
      "MESH:C567855",
      "OMIM:612940",
      "Orphanet:357064",
      "UMLS:C2751987"
    ],
    "synonyms": [
      "ARCL2, progeroid type",
      "ARCL2B",
      "PYCR1 autosomal recessive cutis laxa type 2",
      "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1",
      "autosomal recessive cutis laxa type 2, progeroid type",
      "autosomal recessive cutis laxa type 2B",
      "autosomal recessive cutis laxa type IIB",
      "cutis laxa with progeroid features",
      "cutis laxa, autosomal recessive type 2B",
      "cutis laxa, autosomal recessive, type 2B",
      "cutis laxa, autosomal recessive, type IIB"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported."
  },
  "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"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density.",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026427",
          "HP:0004349"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density."
      },
      "child_count": 34,
      "reference_id": "MONDO:0800064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19378,
      "label": "autosomal recessive cutis laxa type 2"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}