{
  "id": 21341,
  "label": "pseudoxanthoma elasticum (inherited or acquired)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024308",
  "properties": {
    "xrefs": [
      "ICD9:757.39",
      "MEDGEN:18733",
      "NANDO:1200643",
      "SCTID:252246005",
      "UMLS:C0033847"
    ],
    "synonyms": [
      "PXE",
      "pseudoxanthoma elasticum"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    }
  ],
  "children": [
    {
      "id": 16952,
      "label": "acquired pseudoxanthoma elasticum",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020581",
          "ICD9:757.39",
          "MEDGEN:698082",
          "Orphanet:228247",
          "SCTID:403401007",
          "UMLS:C1274759",
          "icd11.foundation:2017339816"
        ],
        "synonyms": [
          "acquired Gronblad-Strandberg-Touraine syndrome",
          "acquired PXE",
          "acquired pseudoxanthoma elasticum",
          "acquired pseudoxanthoma elasticum (inherited or acquired)",
          "localised acquired cutaneous pseudoxanthoma elasticum",
          "localized acquired cutaneous pseudoxanthoma elasticum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016441"
    },
    {
      "id": 23842,
      "label": "inherited pseudoxanthoma elasticum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009643",
          "MEDGEN:697574",
          "UMLS:C1274225"
        ],
        "synonyms": [
          "inherited Gronblad Strandberg syndrome",
          "inherited PXE"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100091"
    }
  ],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    }
  ]
}