{
  "id": 10506,
  "label": "Gaucher disease type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009265",
  "properties": {
    "xrefs": [
      "DOID:0110957",
      "GARD:0002441",
      "MEDGEN:409531",
      "NANDO:1200057",
      "NANDO:2201210",
      "OMIM:230800",
      "Orphanet:77259",
      "SCTID:62201009",
      "UMLS:C1961835"
    ],
    "synonyms": [
      "Gaucher disease type I",
      "Gaucher disease, noncerebral juvenile",
      "Gaucher's disease type I",
      "Gba deficiency",
      "acid Beta-glucosidase deficiency",
      "non-cerebral juvenile Gaucher disease",
      "Gaucher disease type 1",
      "Gaucher disease, type 1",
      "Gaucher disease, type I",
      "Gd 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16880,
      "label": "familial restrictive cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6919,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020532",
          "ICD9:425.4",
          "MEDGEN:468561",
          "OMIMPS:115210",
          "Orphanet:217635",
          "SCTID:233878008",
          "UMLS:C0340429"
        ],
        "synonyms": [
          "hereditary restrictive cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0016340"
    },
    {
      "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"
    },
    {
      "id": 18454,
      "label": "secondary avascular necrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021659",
          "MEDGEN:1842971",
          "Orphanet:399169",
          "UMLS:C5680036"
        ],
        "synonyms": [
          "secondary AVN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018374"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7060
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021667",
          "MEDGEN:1842788",
          "Orphanet:399380",
          "UMLS:C5680035"
        ],
        "synonyms": [
          "bone necrosis of genetic origin",
          "genetic osteonecrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of osteonecrosis that is caused by a modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018383"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        19108,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10742",
          "GARD:0019491",
          "ICD9:330.1",
          "MEDGEN:1825994",
          "Orphanet:98544",
          "SCTID:16517004",
          "UMLS:C5681730"
        ],
        "synonyms": [
          "cerebral lipidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0020143"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16880,
      "label": "familial restrictive cardiomyopathy"
    },
    {
      "id": 18295,
      "label": "Gaucher disease"
    },
    {
      "id": 18454,
      "label": "secondary avascular necrosis"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia"
    }
  ]
}