{
  "id": 2762,
  "label": "GLUT1 deficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000188",
  "properties": {
    "xrefs": [
      "DOID:0070560",
      "GARD:0022724",
      "MEDGEN:337833",
      "NANDO:1200799",
      "OMIMPS:606777",
      "UMLS:C1847501"
    ],
    "synonyms": [
      "GLUT1 deficiency syndrome",
      "GLUT1DS"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epileptic encephalopathy resulting from impaired glucose transport into the brain."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19082,
      "label": "inborn carbohydrate metabolic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        22979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2978",
          "GARD:0018946",
          "ICD9:271.8",
          "MEDGEN:2825",
          "MESH:D002239",
          "MedDRA:10061023",
          "NANDO:2100164",
          "NCIT:C97089",
          "Orphanet:79161",
          "UMLS:C0007001"
        ],
        "synonyms": [
          "carbohydrate metabolism disorder",
          "inborn carbohydrate metabolic process disorder",
          "inborn error of carbohydrate metabolic process",
          "rare inborn error of carbohydrate metabolic process",
          "carbohydrate metabolic disorder",
          "disorder of carbohydrate metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process."
      },
      "child_count": 36,
      "reference_id": "MONDO:0019214"
    },
    {
      "id": 23511,
      "label": "carbohydrate transport disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        22979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:541226",
          "SCTID:54905006",
          "UMLS:C0268173"
        ],
        "synonyms": [
          "carbohydrate transport disease",
          "disorder of carbohydrate transport"
        ],
        "definition": "A disease that has its basis in the disruption of carbohydrate transport."
      },
      "child_count": 2,
      "reference_id": "MONDO:0045015"
    },
    {
      "id": 23787,
      "label": "metabolic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1843497",
          "UMLS:C4524099"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100033"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 12811,
      "label": "encephalopathy due to GLUT1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2762,
        19091
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070561",
          "GARD:0009265",
          "MEDGEN:1645412",
          "MESH:C536830",
          "NANDO:1200799",
          "NANDO:2200545",
          "NORD:1188",
          "OMIM:606777",
          "Orphanet:71277",
          "UMLS:C4551966",
          "icd11.foundation:1231079185"
        ],
        "synonyms": [
          "De Vivo disease",
          "GLUT1 deficiency syndrome 1, infantile onset, severe",
          "GLUT1 deficiency syndrome type 1",
          "GLUT1-DS",
          "Glucose Transporter Type 1 Deficiency Syndrome",
          "encephalopathy due to GLUT1 deficiency",
          "glucose transporter type 1 deficiency",
          "glut-1 deficiency syndrome",
          "G1D",
          "GLUT1 DS",
          "GLUT1 deficiency syndrome",
          "GLUT1 deficiency syndrome 1",
          "GLUT1 deficiency syndrome 1, autosomal recessive",
          "GLUT1DS1",
          "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included",
          "glucose Transport defect, blood-brain barrier",
          "glucose transport defect, blood-brain barrier",
          "glucose transporter Protein syndrome",
          "glucose transporter protein syndrome",
          "glucose transporter type 1 deficiency syndrome",
          "glucose transporter type1 (glut-1) deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011724"
    },
    {
      "id": 13845,
      "label": "childhood onset GLUT1 deficiency syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2762,
        16273,
        17944
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090045",
          "GARD:0010541",
          "MEDGEN:330866",
          "MESH:C564288",
          "NANDO:1200531",
          "OMIM:612126",
          "Orphanet:98811",
          "SCTID:724072002",
          "UMLS:C1842534"
        ],
        "synonyms": [
          "DYT18",
          "GLUT1 deficiency syndrome 2, childhood onset",
          "GLUT1 deficiency syndrome type 2",
          "PED",
          "PxMD-SLC2A1",
          "childhood onset GLUT1 deficiency syndrome 2",
          "childhood onset GLUT1 deficiency syndrome type 2",
          "dystonia 18",
          "paroxysmal exercise-induced dystonia",
          "ped",
          "DYT-SLC2A1",
          "GLUT1 deficiency syndrome 2",
          "GLUT1DS2",
          "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia",
          "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia",
          "paroxysmal exertion-induced dyskinesia",
          "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia",
          "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia",
          "ped with or without epilepsy and/or hemolytic Anaemia",
          "ped with or without epilepsy and/or hemolytic Anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012805"
    }
  ],
  "roots": [
    {
      "id": 19082,
      "label": "inborn carbohydrate metabolic disorder"
    },
    {
      "id": 23511,
      "label": "carbohydrate transport disease"
    },
    {
      "id": 23787,
      "label": "metabolic epilepsy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}