{
    "disease_id": "DOID:0080778",
    "recommended_name": {
        "id": "DOID:0080778",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080778",
        "name": "transient infantile liver failure",
        "description": "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
            "description": "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia."
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "LFIT",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "transient infantile liver failure",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "liver failure, transient infantile",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "infantile liver failure caused by mutation in TRMU",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "liver failure, infantile, transient",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "TRMU infantile liver failure",
            "description": ""
        },
        {
            "id": "MONDO:0013111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013111",
            "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
            "description": ""
        },
        {
            "id": "MIM:613070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613070",
            "name": "Liver failure, infantile, transient",
            "description": "Liver failure, infantile, transient"
        }
    ]
}