{
  "id": 18425,
  "label": "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018332",
  "properties": {
    "xrefs": [
      "GARD:0017626",
      "MEDGEN:1842925",
      "Orphanet:394529",
      "UMLS:C5680029"
    ],
    "synonyms": [
      "MAD deficiency, severe neonatal type",
      "MADD, severe neonatal type",
      "glutaric aciduria type 2, severe neonatal type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10522,
      "label": "multiple acyl-CoA dehydrogenase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2735,
        5908,
        17949,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060358",
          "GARD:0006523",
          "ICD10CM:E71.313",
          "MEDGEN:75696",
          "NANDO:1200801",
          "NANDO:2200502",
          "NCIT:C84907",
          "NORD:1192",
          "OMIM:231680",
          "Orphanet:26791",
          "UMLS:C0268596",
          "icd11.foundation:977130875"
        ],
        "synonyms": [
          "Glutaric Aciduria Type II",
          "MAD deficiency",
          "MADD",
          "electron transfer flavoprotein deficiency",
          "glutaric acidemia type 2",
          "glutaric acidemia type II",
          "glutaric aciduria type 2",
          "glutaric aciduria, type 2",
          "multiple acyl Coenzyme A dehydrogenase deficiency",
          "multiple acyl-CoA dehydrogenase deficiency",
          "Etfa deficiency",
          "Etfb deficiency",
          "Etfdh deficiency",
          "glutaric acidemia 2A",
          "glutaric acidemia 2B",
          "glutaric acidemia 2C",
          "glutaric acidemia IIA",
          "glutaric acidemia IIB",
          "glutaric acidemia IIC",
          "EMA",
          "Ga 2",
          "ethylmalonic-Adipicaciduria",
          "glutaric acidemia 2",
          "glutaric aciduria 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure."
      },
      "child_count": 20,
      "reference_id": "MONDO:0009282"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10522,
      "label": "multiple acyl-CoA dehydrogenase deficiency"
    }
  ]
}