{
  "id": 16716,
  "label": "infantile Krabbe disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016089",
  "properties": {
    "xrefs": [
      "GARD:0020343",
      "MEDGEN:148270",
      "NANDO:1200075",
      "NANDO:2201216",
      "Orphanet:206436",
      "SCTID:238030005",
      "UMLS:C0751273",
      "icd11.foundation:999546344"
    ],
    "synonyms": [
      "Krabbe disease, classic form",
      "Krabbe disease, early-onset",
      "early onset Krabbe disease",
      "early symptomatic Krabbe disease",
      "early-onset Krabbe disease",
      "infantile onset Krabbe disease",
      "infantile-onset Krabbe disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10724,
      "label": "Krabbe disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6639,
        18952,
        19116,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10587",
          "GARD:0006844",
          "ICD10CM:E75.23",
          "MEDGEN:44131",
          "MESH:D007965",
          "MedDRA:10023492",
          "NANDO:1200074",
          "NANDO:2200564",
          "NCIT:C61254",
          "NORD:1368",
          "OMIM:245200",
          "Orphanet:487",
          "SCTID:189979005",
          "SCTID:192782005",
          "UMLS:C0023521",
          "icd11.foundation:796317173"
        ],
        "synonyms": [
          "GALC deficiency",
          "GALC enzyme deficiency",
          "Krabbe disease",
          "Krabbe's leukodystrophy",
          "Leukodystrophy, Krabbe's",
          "diffuse globoid body sclerosis",
          "galactocerebrosidase deficiency",
          "galactosylceramidase deficiency",
          "galactosylceramide lipidosis",
          "globoid cell leukodystrophy",
          "globoid cell leukoencephalopathy",
          "later onset Krabbe disease",
          "later-onset Krabbe disease",
          "GLD",
          "Krabbe leukodystrophy",
          "galactosylceramide Beta-galactosidase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms."
      },
      "child_count": 12,
      "reference_id": "MONDO:0009499"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10724,
      "label": "Krabbe disease"
    }
  ]
}