{
    "disease_id": "DOID:0111277",
    "recommended_name": {
        "id": "DOID:0111277",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111277",
        "name": "mitochondrial trifunctional protein deficiency",
        "description": "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111277",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111277",
            "name": "MTPD",
            "description": ""
        },
        {
            "id": "DOID:0111277",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111277",
            "name": "TFP deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111277",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111277",
            "name": "TFPD",
            "description": ""
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "mitochondrial trifunctional protein deficiency",
            "description": "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.."
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "mitochondrial trifunctional protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "trifunctional Protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "TFP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "MTPD",
            "description": ""
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "TFPD",
            "description": ""
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "trifunctional Protein deficiency with myopathy and neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0012172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012172",
            "name": "mitochondrial trifunctional PROTEIN deficiency; MTPD",
            "description": ""
        },
        {
            "id": "MIM:609015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609015",
            "name": "Mitochondrial trifunctional protein deficiency",
            "description": "Mitochondrial trifunctional protein deficiency"
        }
    ]
}