{
  "id": 10522,
  "label": "multiple acyl-CoA dehydrogenase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009282",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2735,
      "label": "glutaric aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0003150",
          "HP:0003530",
          "ICD9:270.8",
          "MEDGEN:75695",
          "SCTID:28987007",
          "UMLS:C0268594"
        ],
        "synonyms": [
          "glutaric acidemia",
          "glutaric aciduria",
          "glutaric aciduria (disease)"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000129"
    },
    {
      "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": 17949,
      "label": "acyl-CoA dehydrogenase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021318",
          "MEDGEN:541378",
          "Orphanet:309120",
          "SCTID:82319005",
          "UMLS:C0268635"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017714"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    }
  ],
  "children": [
    {
      "id": 18425,
      "label": "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10522
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018332"
    },
    {
      "id": 18426,
      "label": "multiple acyl-CoA dehydrogenase deficiency, mild type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10522
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017627",
          "MEDGEN:1843108",
          "Orphanet:394532",
          "UMLS:C5680028"
        ],
        "synonyms": [
          "MAD deficiency, mild type",
          "MADD, mild type",
          "glutaric aciduria type 2, mild type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018333"
    },
    {
      "id": 24469,
      "label": "glutaric acidemia IIa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10522
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026345",
          "MEDGEN:479784",
          "UMLS:C3278154"
        ],
        "synonyms": [
          "ETFA deficiency",
          "GA2A",
          "glutaric acidemia 2A",
          "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700073"
    },
    {
      "id": 24470,
      "label": "glutaric acidemia IIb",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10522
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026346",
          "MEDGEN:479785",
          "UMLS:C3278155"
        ],
        "synonyms": [
          "ETFB deficiency",
          "GA2B",
          "glutaric acidemia 2B",
          "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700074"
    },
    {
      "id": 24472,
      "label": "glutaric acidemia IIc",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10522
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026348",
          "MEDGEN:479786",
          "UMLS:C3278156"
        ],
        "synonyms": [
          "ETFDH deficiency",
          "GA2C",
          "glutaric acidemia 2C",
          "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFDH"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700076"
    }
  ],
  "roots": [
    {
      "id": 2735,
      "label": "glutaric aciduria"
    },
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder"
    },
    {
      "id": 17949,
      "label": "acyl-CoA dehydrogenase deficiency"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    }
  ]
}