{
  "id": 11128,
  "label": "autosomal recessive inherited pseudoxanthoma elasticum",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009925",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 23842,
      "label": "inherited pseudoxanthoma elasticum"
    }
  ]
}