{
  "id": 10498,
  "label": "galactose epimerase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009257",
  "properties": {
    "xrefs": [
      "DOID:0111458",
      "GARD:0005392",
      "MEDGEN:199598",
      "NANDO:2200534",
      "OMIM:230350",
      "Orphanet:79238",
      "SCTID:8849004",
      "UMLS:C0751161"
    ],
    "synonyms": [
      "GALE deficiency",
      "GALE-D",
      "UDP-galactose-4-epimerase deficiency",
      "epimerase deficiency galactosemia",
      "galactose epimerase deficiency",
      "galactosemia type 3",
      "uridine diphosphate galactose-4-epimerase deficiency",
      "Gale deficiency",
      "galactosemia 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18269,
      "label": "galactosemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        17930
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9870",
          "GARD:0002424",
          "ICD10CM:E74.21",
          "ICD9:271.1",
          "MEDGEN:8943",
          "MESH:D005693",
          "MedDRA:10017604",
          "NCIT:C84723",
          "NORD:1170",
          "OMIMPS:230400",
          "Orphanet:352",
          "SCTID:190745006",
          "UMLS:C0016952"
        ],
        "synonyms": [
          "galactosemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018116"
    }
  ],
  "children": [
    {
      "id": 17931,
      "label": "erythrocyte galactose epimerase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10498,
        24856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017392",
          "MEDGEN:657805",
          "Orphanet:308473",
          "SCTID:297238008",
          "UMLS:C0574090"
        ],
        "synonyms": [
          "erythrocyte GALE deficiency",
          "erythrocyte GALE-D",
          "erythrocyte UDP-galactose-4-epimerase deficiency",
          "erythrocyte epimerase deficiency galactosemia",
          "erythrocyte uridine diphosphate galactose-4-epimerase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017691"
    },
    {
      "id": 17932,
      "label": "generalized galactose epimerase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10498,
        24856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017393",
          "MEDGEN:657804",
          "Orphanet:308487",
          "SCTID:297237003",
          "UMLS:C0574089"
        ],
        "synonyms": [
          "generalised GALE deficiency",
          "generalised GALE-D",
          "generalised UDP-galactose-4-epimerase deficiency",
          "generalised epimerase deficiency galactosemia",
          "generalised uridine diphosphate galactose-4-epimerase deficiency",
          "generalized GALE deficiency",
          "generalized GALE-D",
          "generalized UDP-galactose-4-epimerase deficiency",
          "generalized epimerase deficiency galactosemia",
          "generalized uridine diphosphate galactose-4-epimerase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017692"
    }
  ],
  "roots": [
    {
      "id": 18269,
      "label": "galactosemia"
    }
  ]
}