{
  "id": 11146,
  "label": "pyridoxine-dependent epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009945",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19101,
      "label": "inborn disorder of pyridoxine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19112
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018966",
          "MEDGEN:1842882",
          "Orphanet:79192",
          "UMLS:C5681285",
          "icd11.foundation:1860570911"
        ],
        "synonyms": [
          "inborn error of pyridoxine metabolic process",
          "inborn pyridoxine metabolic process disorder",
          "rare inborn error of pyridoxine metabolic process",
          "disorder of pyridoxine metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019237"
    },
    {
      "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": 15981,
      "label": "epilepsy, early-onset, vitamin B6-dependent",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11146,
        25736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080769",
          "GARD:0025048",
          "MEDGEN:934599",
          "OMIM:617290",
          "UMLS:C4310632"
        ],
        "synonyms": [
          "EPVB6D",
          "epilepsy, early-onset, vitamin B6-dependent",
          "epilepsy, early-onset, vitamin B6-dependent; EPVB6D"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015005"
    },
    {
      "id": 20145,
      "label": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11146
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070519",
          "GARD:0025233",
          "OMIM:266100"
        ],
        "synonyms": [
          "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",
          "AASA dehydrogenase deficiency",
          "EPD",
          "Epd",
          "epilepsy, pyridoxine-dependent",
          "pyridoxine dependency with seizures",
          "pyridoxine-dependent epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020741"
    }
  ],
  "roots": [
    {
      "id": 19101,
      "label": "inborn disorder of pyridoxine metabolism"
    },
    {
      "id": 23787,
      "label": "metabolic epilepsy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}