{
  "id": 10499,
  "label": "classic galactosemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009258",
  "properties": {
    "xrefs": [
      "DOID:0111459",
      "GARD:0013639",
      "MEDGEN:82777",
      "NANDO:1200851",
      "NANDO:2200532",
      "OMIM:230400",
      "Orphanet:79239",
      "SCTID:10899004",
      "UMLS:C0268151",
      "icd11.foundation:2011000259"
    ],
    "synonyms": [
      "GALT deficiency",
      "classic galactosemia",
      "galactose-1-phosphate uridyltransferase deficiency",
      "galactosemia type 1",
      "classical galactosemia, homozygous duarte-type",
      "Galt deficiency",
      "galactose-1-phosphate uridylyltransferase deficiency",
      "galactosemia",
      "galactosemia, Duarte variant",
      "galactosemia, classic",
      "transferase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease."
  },
  "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": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    },
    {
      "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": 19578,
      "label": "inherited primary ovarian failure"
    },
    {
      "id": 24856,
      "label": "disorder of galactose and fructose metabolism"
    }
  ]
}