{
  "id": 17932,
  "label": "generalized galactose epimerase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017692",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10498,
      "label": "galactose epimerase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18269
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009257"
    },
    {
      "id": 24856,
      "label": "disorder of galactose and fructose metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026462"
        ],
        "definition": "An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process."
      },
      "child_count": 8,
      "reference_id": "MONDO:0800152"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10498,
      "label": "galactose epimerase deficiency"
    },
    {
      "id": 24856,
      "label": "disorder of galactose and fructose metabolism"
    }
  ]
}