{
  "id": 18307,
  "label": "autosomal recessive cutis laxa type 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018163",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    },
    {
      "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": [
    {
      "id": 11386,
      "label": "wrinkly skin syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18307
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010208"
    }
  ],
  "roots": [
    {
      "id": 19378,
      "label": "autosomal recessive cutis laxa type 2"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}