{
  "id": 14887,
  "label": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013875",
  "properties": {
    "xrefs": [
      "DOID:0110001",
      "GARD:0012963",
      "MEDGEN:873604",
      "OMIM:614739",
      "Orphanet:352328",
      "SCTID:711409002",
      "UMLS:C4040739"
    ],
    "synonyms": [
      "3-methylglutaconic aciduria caused by mutation in SERAC1",
      "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
      "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome",
      "MEGDEL",
      "MEGDEL syndrome",
      "MGCA6",
      "SERAC1 3-methylglutaconic aciduria",
      "3-MGCA type IV (formerly)",
      "3-MGCA-4 (formerly)",
      "3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome",
      "3-Methylglutaconic aciduria, type 6",
      "3-methylglutaconic aciduria type VI",
      "SERAC1 defect"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 17675,
      "label": "3-methylglutaconic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060336",
          "GARD:0012966",
          "ICD10CM:E71.111",
          "MEDGEN:777186",
          "MESH:C579867",
          "NANDO:1200989",
          "NANDO:2200496",
          "NCIT:C98678",
          "OMIMPS:250950",
          "Orphanet:289902",
          "SCTID:237950009",
          "UMLS:C3696376",
          "icd11.foundation:1008261602"
        ],
        "definition": "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017359"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021516",
          "MEDGEN:1843236",
          "Orphanet:352301",
          "UMLS:C5680990"
        ]
      },
      "child_count": 17,
      "reference_id": "MONDO:0018117"
    },
    {
      "id": 24273,
      "label": "SERAC1-related neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100548"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder"
    },
    {
      "id": 17675,
      "label": "3-methylglutaconic aciduria"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    },
    {
      "id": 24273,
      "label": "SERAC1-related neurological disorder"
    }
  ]
}