{
  "id": 14608,
  "label": "pyruvate dehydrogenase E1-beta deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013580",
  "properties": {
    "xrefs": [
      "GARD:0017236",
      "MEDGEN:481471",
      "MESH:C566729",
      "OMIM:614111",
      "Orphanet:255138",
      "UMLS:C3279841"
    ],
    "synonyms": [
      "PDHBD",
      "pyruvate dehydrogenase E1-beta deficiency",
      "pyruvate dehydrogenase complex E1 component subunit beta deficiency",
      "pyruvate dehydrogenase E1-BETA deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia."
  },
  "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"
    }
  ]
}