{
  "id": 11386,
  "label": "wrinkly skin syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010208",
  "properties": {
    "xrefs": [
      "DOID:0112171",
      "GARD:0000273",
      "ICD9:259.8",
      "MEDGEN:98030",
      "MESH:C536750",
      "OMIM:278250",
      "Orphanet:2834",
      "SCTID:238875009",
      "UMLS:C0406587",
      "icd11.foundation:638767040"
    ],
    "synonyms": [
      "WSS",
      "wrinkled skin syndrome",
      "wrinkly skin syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18307,
      "label": "autosomal recessive cutis laxa type 2A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19378,
        23867,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070134",
          "GARD:0001638",
          "MEDGEN:82795",
          "OMIM:219200",
          "Orphanet:357058",
          "UMLS:C0268355"
        ],
        "synonyms": [
          "ARCL2A",
          "autosomal recessive cutis laxa type 2A",
          "cutis laxa with Joint laxity and retarded development",
          "cutis laxa with bone dystrophy",
          "cutis laxa with congenital disorder of glycosylation",
          "cutis laxa with growth and developmental delay",
          "cutis laxa, autosomal recessive type 2A",
          "cutis laxa, autosomal recessive, type 2A",
          "cutis laxa, autosomal recessive, type IIA",
          "cutis laxa, debre type"
        ],
        "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 that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018163"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18307,
      "label": "autosomal recessive cutis laxa type 2A"
    }
  ]
}