{
  "id": 12811,
  "label": "encephalopathy due to GLUT1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011724",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2762,
      "label": "GLUT1 deficiency syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082,
        23511,
        23787,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000188"
    },
    {
      "id": 19091,
      "label": "glucose transport disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17944,
        23511
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018957",
          "MEDGEN:1842427",
          "Orphanet:79178",
          "UMLS:C5389835"
        ],
        "synonyms": [
          "inborn error of glucose transport",
          "rare inborn error of glucose transport"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of glucose transport."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019226"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2762,
      "label": "GLUT1 deficiency syndrome"
    },
    {
      "id": 19091,
      "label": "glucose transport disorder"
    }
  ]
}