{
  "id": 11858,
  "label": "pyruvate dehydrogenase E1-alpha deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010717",
  "properties": {
    "xrefs": [
      "GARD:0004620",
      "ICD9:277.6",
      "MEDGEN:326486",
      "MESH:C564071",
      "OMIM:312170",
      "Orphanet:79243",
      "SCTID:124593001",
      "UMLS:C1839413"
    ],
    "synonyms": [
      "pyruvate decarboxylase deficiency",
      "PDHAD",
      "pyruvate dehydrogenase E1-alpha deficiency",
      "pyruvate dehydrogenase complex E1 component subunit alpha deficiency",
      "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant",
      "PDH deficiency",
      "ataxia with lactic acidosis 1",
      "ataxia, intermittent, with abnormal pyruvate metabolism",
      "ataxia, intermittent, with pyruvate dehydrogenase deficiency",
      "ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency",
      "lactic acidemia, thiamine-responsive",
      "pyruvate dehydrogenase Complex deficiency",
      "pyruvate dehydrogenase E1-ALPHA deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction."
  },
  "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"
    }
  ]
}