{
  "id": 10727,
  "label": "pyruvate dehydrogenase E2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009502",
  "properties": {
    "xrefs": [
      "GARD:0016712",
      "MEDGEN:343386",
      "MESH:C565448",
      "OMIM:245348",
      "Orphanet:79244",
      "UMLS:C1855565"
    ],
    "synonyms": [
      "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency",
      "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency",
      "pyruvate dehydrogenase E2 deficiency",
      "pyruvate dehydrogenase complex component E2 deficiency",
      "PDHDD",
      "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19044,
      "label": "pyruvate dehydrogenase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908,
        17229,
        19082,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3649",
          "GARD:0007513",
          "ICD9:277.89",
          "MEDGEN:19610",
          "NANDO:2200518",
          "NCIT:C103968",
          "NORD:1641",
          "OMIMPS:312170",
          "Orphanet:765",
          "SCTID:46683007",
          "UMLS:C0034345",
          "icd11.foundation:1124597954"
        ],
        "synonyms": [
          "PDH",
          "PDHC",
          "Pyruvate Dehydrogenase Complex Deficiency",
          "pyruvate decarboxylase deficiency",
          "pyruvate dehydrogenase complex deficiency",
          "pyruvate dehydrogenase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency."
      },
      "child_count": 28,
      "reference_id": "MONDO:0019169"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19044,
      "label": "pyruvate dehydrogenase deficiency"
    }
  ]
}