{
  "id": 19044,
  "label": "pyruvate dehydrogenase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019169",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19107,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:700",
          "GARD:0018887",
          "MEDGEN:1778113",
          "MESH:D028361",
          "NANDO:1200173",
          "NANDO:2100163",
          "Orphanet:68380",
          "UMLS:C1456275"
        ],
        "synonyms": [
          "mitochondrial disease",
          "mitochondrial genetic disorders",
          "mitochondrial metabolism disease"
        ],
        "definition": "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
      },
      "child_count": 42,
      "reference_id": "MONDO:0004069"
    },
    {
      "id": 17229,
      "label": "pyruvate metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059,
        19107,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020752",
          "MEDGEN:1842590",
          "Orphanet:254746",
          "UMLS:C0268192"
        ],
        "synonyms": [
          "inborn error of pyruvate metabolic process",
          "inborn pyruvate metabolic process disorder",
          "rare inborn error of pyruvate metabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process."
      },
      "child_count": 12,
      "reference_id": "MONDO:0016789"
    },
    {
      "id": 19082,
      "label": "inborn carbohydrate metabolic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        22979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2978",
          "GARD:0018946",
          "ICD9:271.8",
          "MEDGEN:2825",
          "MESH:D002239",
          "MedDRA:10061023",
          "NANDO:2100164",
          "NCIT:C97089",
          "Orphanet:79161",
          "UMLS:C0007001"
        ],
        "synonyms": [
          "carbohydrate metabolism disorder",
          "inborn carbohydrate metabolic process disorder",
          "inborn error of carbohydrate metabolic process",
          "rare inborn error of carbohydrate metabolic process",
          "carbohydrate metabolic disorder",
          "disorder of carbohydrate metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process."
      },
      "child_count": 36,
      "reference_id": "MONDO:0019214"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 10727,
      "label": "pyruvate dehydrogenase E2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19044
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009502"
    },
    {
      "id": 10728,
      "label": "pyruvate dehydrogenase E3-binding protein deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19044
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017237",
          "MEDGEN:343383",
          "MESH:C565447",
          "OMIM:245349",
          "Orphanet:255182",
          "UMLS:C1855553"
        ],
        "synonyms": [
          "2-oxoglutarate complex deficiency",
          "Glycine cleavage system L protein deficiency",
          "branched chain alpha-ketoacid dehydrogenase complex deficiency",
          "diaphorase deficiency",
          "dihydrolipoyl dehydrogenase deficiency",
          "lacticacidemia due to PDX1 deficiency",
          "lipoamide dehydrogenase deficiency",
          "pyruvate dehydrogenase E3-binding protein deficiency",
          "pyruvate dehydrogenase complex component E3 deficiency",
          "pyruvate dehydrogenase protein X component deficiency",
          "PDHXD",
          "lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex",
          "pyruvate dehydrogenase E3-binding PROTEIN deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009503"
    },
    {
      "id": 10753,
      "label": "pyruvate dehydrogenase E3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10784,
        18473,
        19044
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009529"
    },
    {
      "id": 11858,
      "label": "pyruvate dehydrogenase E1-alpha deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19044
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010717"
    },
    {
      "id": 13186,
      "label": "pyruvate dehydrogenase phosphatase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19044
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009888",
          "MEDGEN:332448",
          "MESH:C536258",
          "OMIM:608782",
          "Orphanet:79246",
          "UMLS:C1837429",
          "icd11.foundation:1709497558"
        ],
        "synonyms": [
          "PDH phosphatase deficiency",
          "pyruvate dehydrogenase phosphatase deficiency",
          "PDHPD",
          "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012120"
    },
    {
      "id": 14608,
      "label": "pyruvate dehydrogenase E1-beta deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19044
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013580"
    },
    {
      "id": 14780,
      "label": "lipoic acid synthetase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18473,
        19044
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012678",
          "MEDGEN:482517",
          "OMIM:614462",
          "Orphanet:401859",
          "UMLS:C3280887"
        ],
        "synonyms": [
          "HGCLAS",
          "PDHLD",
          "hyperglycinemia, lactic acidosis, and seizures",
          "pyruvate dehydrogenase lipoic acid synthetase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013762"
    }
  ],
  "roots": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder"
    },
    {
      "id": 17229,
      "label": "pyruvate metabolism disorder"
    },
    {
      "id": 19082,
      "label": "inborn carbohydrate metabolic disorder"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}