{
  "id": 10496,
  "label": "galactokinase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009255",
  "properties": {
    "xrefs": [
      "DOID:14695",
      "GARD:0002422",
      "MEDGEN:120614",
      "NANDO:2200533",
      "NCIT:C114767",
      "OMIM:230200",
      "Orphanet:79237",
      "SCTID:124302001",
      "UMLS:C0268155",
      "icd11.foundation:1173858031"
    ],
    "synonyms": [
      "GALK deficiency",
      "GALK-D",
      "galactokinase deficiency",
      "galactokinase deficiency galactosemia",
      "galactokinase deficiency with cataracts",
      "galactosemia type 2",
      "Galk deficiency",
      "galactosemia 2",
      "hereditary galactokinase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "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": 18269,
      "label": "galactosemia"
    },
    {
      "id": 24856,
      "label": "disorder of galactose and fructose metabolism"
    }
  ]
}