{
  "id": 10724,
  "label": "Krabbe disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009499",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6639,
      "label": "eye degenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9799",
          "ICD10CM:H44.5",
          "ICD9:360.2",
          "ICD9:360.20",
          "ICD9:360.29",
          "ICD9:360.4",
          "ICD9:360.40",
          "MEDGEN:509655",
          "SCTID:62585004",
          "UMLS:C0154777"
        ],
        "synonyms": [
          "degenerative disorder of eye",
          "eye neurodegenerative disease",
          "eyeball of camera-type eye neurodegenerative disease",
          "neurodegenerative disease of eyeball of camera-type eye",
          "degenerative disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A neurodegenerative disease that involves the eye."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004884"
    },
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    },
    {
      "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"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 16716,
      "label": "infantile Krabbe disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10724
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016089"
    },
    {
      "id": 16717,
      "label": "late-infantile/juvenile Krabbe disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020344",
          "Orphanet:206443",
          "SCTID:41142009"
        ],
        "synonyms": [
          "Krabbe disease, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016090"
    },
    {
      "id": 16718,
      "label": "adult Krabbe disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10724,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020345",
          "MEDGEN:120623",
          "NANDO:1200077",
          "NANDO:2201219",
          "Orphanet:206448",
          "UMLS:C0268252",
          "icd11.foundation:699668826"
        ],
        "synonyms": [
          "Krabbe disease of adults"
        ],
        "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 Krabbe disease that occurs in an adult."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016091"
    }
  ],
  "roots": [
    {
      "id": 6639,
      "label": "eye degenerative disorder"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 19116,
      "label": "sphingolipidosis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}