{
  "id": 23842,
  "label": "inherited pseudoxanthoma elasticum",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100091",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 21341,
      "label": "pseudoxanthoma elasticum (inherited or acquired)",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0024308"
    }
  ],
  "children": [
    {
      "id": 9637,
      "label": "pseudoxanthoma elasticum, forme fruste",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        23842
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010104",
          "MEDGEN:357280",
          "OMIM:177850",
          "UMLS:C1867450"
        ],
        "synonyms": [
          "pseudoxanthoma elasticum, forme fruste",
          "pseudoxanthoma elasticum, heterozygous"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An autosomal dominant form of PXE."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008333"
    },
    {
      "id": 11128,
      "label": "autosomal recessive inherited pseudoxanthoma elasticum",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        21247,
        23842
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2738",
          "GARD:0024699",
          "ICD9:757.39",
          "MESH:D011561",
          "MedDRA:10037150",
          "NCIT:C85036",
          "NORD:1629",
          "OMIM:264800",
          "Orphanet:758",
          "SCTID:402782006",
          "SCTID:72744008",
          "icd11.foundation:1516160852"
        ],
        "synonyms": [
          "AR inherited pseudoxanthoma elasticum",
          "Gronblad-Strandberg syndrome",
          "Gronblad-Strandberg-Touraine syndrome",
          "PXE",
          "Pseudoxanthoma Elasticum",
          "Gronblad Strandberg syndrome",
          "PXE, modifier of severity of",
          "pseudoxanthoma elasticum",
          "pseudoxanthoma elasticum, modifier of severity of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An autosomal recessive form of PXE."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009925"
    }
  ],
  "roots": [
    {
      "id": 21341,
      "label": "pseudoxanthoma elasticum (inherited or acquired)"
    }
  ]
}