{
  "id": 10507,
  "label": "Gaucher disease type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009266",
  "properties": {
    "xrefs": [
      "DOID:0110958",
      "GARD:0002442",
      "MEDGEN:78652",
      "NANDO:1200058",
      "NANDO:2201211",
      "OMIM:230900",
      "Orphanet:77260",
      "SCTID:12246008",
      "UMLS:C0268250"
    ],
    "synonyms": [
      "Gaucher disease type II",
      "Gaucher disease, acute neuronopathic type",
      "Gaucher's disease type II",
      "acute neuronopathic Gaucher disease",
      "infantile cerebral Gaucher disease",
      "Gaucher disease type 2",
      "Gaucher disease, infantile cerebral",
      "Gaucher disease, type 2",
      "Gaucher disease, type II",
      "Gd 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2."
  },
  "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"
    }
  ]
}