{
  "id": 23787,
  "label": "metabolic epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100033",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6761,
      "label": "epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1826",
          "EFO:0000474",
          "ICD10CM:G40",
          "ICD10WHO:G40",
          "ICD9:345",
          "ICD9:345.8",
          "ICD9:345.80",
          "ICD9:345.9",
          "ICD9:345.90",
          "ICD9:345.91",
          "MEDGEN:4506",
          "MESH:D004827",
          "NCIT:C3020",
          "SCTID:84757009",
          "UMLS:C0014544",
          "birnlex:12718"
        ],
        "synonyms": [
          "epilepsy",
          "seizure disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions."
      },
      "child_count": 13,
      "reference_id": "MONDO:0005027"
    }
  ],
  "children": [
    {
      "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": 11146,
      "label": "pyridoxine-dependent epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19101,
        23787,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080768",
          "GARD:0009298",
          "MEDGEN:340341",
          "MESH:C536254",
          "NORD:1639",
          "Orphanet:3006",
          "SCTID:734434007",
          "UMLS:C1849508"
        ],
        "synonyms": [
          "antiquitin deficiency",
          "pyridoxine-dependent epilepsy",
          "vitamin B6-dependent seizures",
          "AASA dehydrogenase deficiency",
          "EPD",
          "Epd",
          "epilepsy, pyridoxine-dependent",
          "pyridoxine dependency",
          "pyridoxine dependency with seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009945"
    },
    {
      "id": 13458,
      "label": "pyridoxal phosphate-responsive seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19101,
        23787,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111329",
          "GARD:0010730",
          "MEDGEN:350498",
          "MESH:C566449",
          "OMIM:610090",
          "Orphanet:79096",
          "SCTID:724576005",
          "UMLS:C1864723",
          "icd11.foundation:1632334328",
          "icd11.foundation:604024463"
        ],
        "synonyms": [
          "PNPO deficiency",
          "PNPO-related neonatal epileptic encephalopathy",
          "pyridox(am)ine 5’-phosphate oxidase deficiency",
          "pyridoxal phosphate-dependent seizures",
          "pyridoxamine 5'-phosphate oxidase deficiency",
          "pyridoxine 5' phosphate oxidase deficiency",
          "PNPOD",
          "Pnpo deficiency",
          "epileptic encephalopathy, neonatal, Pnpo-related",
          "pyridoxal 5'-phosphate-dependent epilepsy",
          "pyridoxamine 5-prime-phosphate oxidase deficiency",
          "pyridoxine-5'-phosphate oxidase deficiency",
          "seizures, pyridoxine-resistant, PLP-sensitive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012407"
    },
    {
      "id": 19067,
      "label": "folinic acid-responsive seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19114,
        23787,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018938",
          "MEDGEN:908191",
          "Orphanet:79097",
          "SCTID:717276003",
          "UMLS:C4273952",
          "icd11.foundation:723504178"
        ],
        "synonyms": [
          "Folinic acid responsive seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019197"
    }
  ],
  "roots": [
    {
      "id": 6761,
      "label": "epilepsy"
    }
  ]
}