{
  "id": 13458,
  "label": "pyridoxal phosphate-responsive seizures",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012407",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 19101,
      "label": "inborn disorder of pyridoxine metabolism"
    },
    {
      "id": 23787,
      "label": "metabolic epilepsy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}