{
  "id": 25859,
  "label": "mitochondrial trifunctional protein deficiency 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0958185",
  "properties": {
    "xrefs": [
      "DOID:0060999",
      "GARD:0026962",
      "MEDGEN:1841010",
      "OMIM:620300",
      "UMLS:C5830374"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13235,
      "label": "mitochondrial trifunctional protein deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        10856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111277",
          "GARD:0003684",
          "ICD9:277.85",
          "MEDGEN:370665",
          "MESH:C566945",
          "NANDO:1200974",
          "NANDO:2200515",
          "NANDO:2201147",
          "NCIT:C98991",
          "OMIMPS:609015",
          "Orphanet:746",
          "SCTID:237999008",
          "UMLS:C1969443",
          "icd11.foundation:1018083832"
        ],
        "synonyms": [
          "TFP deficiency",
          "TFPD",
          "mitochondrial trifunctional protein deficiency",
          "MTPD",
          "mitochondrial trifunctional PROTEIN deficiency",
          "trifunctional Protein deficiency",
          "trifunctional Protein deficiency with myopathy and neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.."
      },
      "child_count": 4,
      "reference_id": "MONDO:0012172"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13235,
      "label": "mitochondrial trifunctional protein deficiency"
    }
  ]
}