{
  "id": 10509,
  "label": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009268",
  "properties": {
    "xrefs": [
      "DOID:0112250",
      "GARD:0012504",
      "MEDGEN:341563",
      "MESH:C565553",
      "OMIM:231005",
      "Orphanet:2072",
      "SCTID:1156813002",
      "UMLS:C1856476"
    ],
    "synonyms": [
      "Gaucher disease type 3C",
      "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",
      "Gaucher-like disease",
      "cardiovascular Gaucher disease",
      "Gaucher disease - ophthalmoplegia - cardiovascular calcification",
      "Gaucher disease, type 3C",
      "Gaucher disease, type IIIC",
      "pseudo Gaucher disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18295,
      "label": "Gaucher disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        19116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1926",
          "GARD:0008233",
          "ICD10CM:E75.22",
          "MEDGEN:42164",
          "MESH:D005776",
          "MedDRA:10018048",
          "NANDO:1200056",
          "NANDO:2200562",
          "NCIT:C61268",
          "NORD:1177",
          "Orphanet:355",
          "SCTID:190794006",
          "UMLS:C0017205",
          "icd11.foundation:1923566939"
        ],
        "synonyms": [
          "Gaucher disease",
          "Gaucher syndrome",
          "acid beta-glucosidase deficiency",
          "glucocerebrosidase deficiency",
          "glucocerebrosidosis",
          "glucosylceramidase deficiency",
          "glucosylceramide beta-glucosidase deficiency",
          "lipoid histiocytosis (kerasin type)",
          "acute cerebral Gaucher disease",
          "Gaucher splenomegaly",
          "cerebroside lipidosis syndrome",
          "glucosyl cerebroside lipidosis",
          "kerasin histiocytosis",
          "kerasin lipoidosis",
          "sphingolipidosis 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0018150"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18295,
      "label": "Gaucher disease"
    }
  ]
}