{
  "id": 20145,
  "label": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020741",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11146,
      "label": "pyridoxine-dependent epilepsy"
    }
  ]
}