{
  "id": 10753,
  "label": "pyruvate dehydrogenase E3 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009529",
  "properties": {
    "xrefs": [
      "DOID:0061204",
      "GARD:0003263",
      "MEDGEN:1805500",
      "OMIM:246900",
      "Orphanet:2394",
      "SCTID:29914000",
      "UMLS:C5574660"
    ],
    "synonyms": [
      "DLD deficiency",
      "E3-deficient maple syrup urine disease",
      "dihydrolipoamide dehydrogenase deficiency",
      "pyruvate dehydrogenase E3 deficiency",
      "DLDD",
      "Dld deficiency",
      "E3 deficiency",
      "lipoamide dehydrogenase deficiency, lactic acidosis due to",
      "maple syrup urine disease, type 3",
      "maple syrup urine disease, type III"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10784,
      "label": "maple syrup urine disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3084,
        19106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9269",
          "GARD:0003228",
          "ICD10CM:E71.0",
          "MEDGEN:6217",
          "MESH:D008375",
          "MedDRA:10026817",
          "NANDO:1200791",
          "NANDO:2200473",
          "NCIT:C34806",
          "NORD:1400",
          "OMIMPS:248600",
          "Orphanet:511",
          "SCTID:27718001",
          "UMLS:C0024776",
          "icd11.foundation:1623706568"
        ],
        "synonyms": [
          "BCKD deficiency",
          "BCKDH deficiency",
          "Ketoacidaemia",
          "MSUD",
          "branched chain ketoaciduria",
          "branched-chain 2-ketoacid dehydrogenase deficiency",
          "branched-chain ketoaciduria",
          "maple syrup urine disease",
          "maple syrup urine disease, type 1A",
          "maple syrup urine disease, type 1B",
          "maple syrup urine disease, type 2",
          "Keto acid decarboxylase deficiency",
          "branched-chain Alpha-Keto acid dehydrogenase deficiency",
          "maple syrup urine disease, Intermediate",
          "maple syrup urine disease, classic",
          "maple syrup urine disease, intermittent",
          "maple syrup urine disease, thiamine-responsive"
        ],
        "definition": "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death."
      },
      "child_count": 18,
      "reference_id": "MONDO:0009563"
    },
    {
      "id": 18473,
      "label": "inherited lipoic acid biosynthesis defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908,
        22984,
        23517,
        23664
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012679",
          "MEDGEN:1843250",
          "Orphanet:401854",
          "UMLS:C5680006"
        ],
        "synonyms": [
          "inborn error of lipoate biosynthetic process",
          "inborn lipoate biosynthetic process disorder",
          "lipoate biosynthesis defect",
          "rare inborn error of lipoate biosynthetic process",
          "lipoic acid biosynthesis defect",
          "lipoic acid biosynthesis defects"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018424"
    },
    {
      "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": 10784,
      "label": "maple syrup urine disease"
    },
    {
      "id": 18473,
      "label": "inherited lipoic acid biosynthesis defect"
    },
    {
      "id": 19044,
      "label": "pyruvate dehydrogenase deficiency"
    }
  ]
}