{
  "id": 18269,
  "label": "galactosemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018116",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 17930,
      "label": "disorder of galactose metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021308",
          "MEDGEN:575203",
          "Orphanet:308467",
          "SCTID:237963003",
          "UMLS:C0342745",
          "icd11.foundation:1462194012"
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0017690"
    }
  ],
  "children": [
    {
      "id": 10496,
      "label": "galactokinase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18269,
        24856
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009255"
    },
    {
      "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": 10499,
      "label": "classic galactosemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18269,
        19578,
        24856
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009258"
    },
    {
      "id": 21854,
      "label": "galactosemia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18269,
        24856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060969",
          "GARD:0018005",
          "MEDGEN:1718159",
          "OMIM:618881",
          "Orphanet:570422",
          "UMLS:C5394377"
        ],
        "synonyms": [
          "GALAC4",
          "GALACTOSEMIA IV",
          "Galactose Mutarotase Deficiency",
          "galactosemia iv",
          "GALM mutarotase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030105"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 17930,
      "label": "disorder of galactose metabolism"
    }
  ]
}