{
    "disease_id": "DOID:0111277", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012172", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012172", 
            "name": "trifunctional Protein deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012172", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012172", 
            "name": "TFP deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012172", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012172", 
            "name": "MTPD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012172", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012172", 
            "name": "TFPD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012172", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012172", 
            "name": "trifunctional Protein deficiency with myopathy and neuropathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012172", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012172", 
            "name": "mitochondrial trifunctional PROTEIN deficiency; MTPD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111277", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111277", 
            "name": "MTPD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111277", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111277", 
            "name": "TFP deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111277", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111277", 
            "name": "TFPD"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111277", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111277", 
        "name": "mitochondrial trifunctional protein deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111277#disease-associations", 
            "id": "0111277", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
