{
    "disease_id": "DOID:0080128",
    "recommended_name": {
        "id": "DOID:0080128",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080128",
        "name": "mitochondrial DNA depletion syndrome 9",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11."
    },
    "synonyms": [
        {
            "id": "DOID:0080128",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080128",
            "name": "fatal infantile lactic acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "mitochondrial DNA depletion syndrome 9",
            "description": "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated."
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "lactic acidosis, fatal infantile, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "MTDPS9",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "lactic acidosis, fatal infantile",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "lactic acidosis congenital infantile",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria); MTDPS9",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "mitochondrial DNA depletion syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "SUCLG1 mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1",
            "description": ""
        },
        {
            "id": "MONDO:0009504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009504",
            "name": "fatal infantile lactic acidosis with methylmalonic aciduria",
            "description": ""
        },
        {
            "id": "MIM:245400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/245400",
            "name": "Mitochondrial DNA depletion syndrome 9",
            "description": "Mitochondrial DNA depletion syndrome 9"
        }
    ]
}