{
  "id": 10508,
  "label": "Gaucher disease type III",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009267",
  "properties": {
    "xrefs": [
      "DOID:0110959",
      "GARD:0002443",
      "MEDGEN:78653",
      "NANDO:1200059",
      "NANDO:2201212",
      "OMIM:231000",
      "Orphanet:77261",
      "SCTID:5963005",
      "UMLS:C0268251"
    ],
    "synonyms": [
      "Gaucher disease type III",
      "Gaucher disease, Subacute neuronopathic type",
      "Gaucher disease, chronic neuronopathic type",
      "Gaucher disease, juvenile and adult, cerebral",
      "Gaucher disease, subacute neuronopathic type",
      "Gaucher's disease type III",
      "cerebral juvenile and adult form of Gaucher disease",
      "chronic neuronopathic Gaucher disease",
      "Gaucher disease type 3",
      "Gaucher disease, Norrbottnian type",
      "Gaucher disease, type 3",
      "Gaucher disease, type 3A",
      "Gaucher disease, type 3B",
      "Gaucher disease, type III",
      "Gd 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1."
  },
  "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"
    }
  ]
}