{
  "id": 18295,
  "label": "Gaucher disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018150",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 19116,
      "label": "sphingolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19108
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1927",
          "GARD:0007672",
          "MEDGEN:52453",
          "MESH:D013106",
          "NCIT:C117254",
          "Orphanet:79225",
          "SCTID:238028008",
          "UMLS:C0037899",
          "icd11.foundation:1875237176"
        ],
        "definition": "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease."
      },
      "child_count": 11,
      "reference_id": "MONDO:0019255"
    }
  ],
  "children": [
    {
      "id": 10506,
      "label": "Gaucher disease type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        18295,
        18454,
        18462,
        19753
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009265"
    },
    {
      "id": 10507,
      "label": "Gaucher disease type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18295
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009266"
    },
    {
      "id": 10508,
      "label": "Gaucher disease type III",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18295
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009267"
    },
    {
      "id": 10509,
      "label": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18295
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009268"
    },
    {
      "id": 13018,
      "label": "Gaucher disease perinatal lethal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110960",
          "GARD:0010675",
          "MEDGEN:374996",
          "MESH:C564306",
          "OMIM:608013",
          "Orphanet:85212",
          "SCTID:870313002",
          "UMLS:C1842704"
        ],
        "synonyms": [
          "Gaucher disease collodion type",
          "Gaucher disease perinatal lethal",
          "Gaucher disease, collodion type",
          "Gaucher disease, perinatal lethal",
          "Gaucher disease, perinatal-lethal form",
          "Gaucher's disease perinatal lethal",
          "fetal Gaucher disease",
          "foetal Gaucher disease",
          "perinatal lethal Gaucher disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011945"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 19116,
      "label": "sphingolipidosis"
    }
  ]
}