{
  "id": 13235,
  "label": "mitochondrial trifunctional protein deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012172",
  "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.."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3146",
          "GARD:0021314",
          "ICD9:272.8",
          "ICD9:272.9",
          "MEDGEN:57587",
          "MedDRA:10061227",
          "NCIT:C97092",
          "Orphanet:309005",
          "SCTID:267431006",
          "SCTID:402788005",
          "UMLS:C0154251"
        ],
        "synonyms": [
          "disorder of lipid metabolism",
          "dyslipidaemia",
          "dyslipidemia",
          "lipid metabolism disorder",
          "fatty acid metabolism disorder"
        ],
        "definition": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."
      },
      "child_count": 29,
      "reference_id": "MONDO:0002525"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    }
  ],
  "children": [
    {
      "id": 25855,
      "label": "mitochondrial trifunctional protein deficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070619",
          "GARD:0026958",
          "OMIM:609015"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958181"
    },
    {
      "id": 25859,
      "label": "mitochondrial trifunctional protein deficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060999",
          "GARD:0026962",
          "MEDGEN:1841010",
          "OMIM:620300",
          "UMLS:C5830374"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958185"
    }
  ],
  "roots": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    }
  ]
}