{
  "id": 14780,
  "label": "lipoic acid synthetase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013762",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18473,
      "label": "inherited lipoic acid biosynthesis defect"
    },
    {
      "id": 19044,
      "label": "pyruvate dehydrogenase deficiency"
    }
  ]
}