{
    "disease_id": "DOID:0080124",
    "recommended_name": {
        "id": "DOID:0080124",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080124",
        "name": "mitochondrial DNA depletion syndrome 5",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080124",
            "name": "succinate-CoA ligase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",
            "description": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA."
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "booth-Haworth-Dilling syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mitochondrial DNA depletion syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mitochondrial DNA depletion syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mitochondrial encephalomyopathy-aminoacidopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "MTDPS5",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "encephalomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012791",
            "name": "mitochondrial encephalomyopathy aminoacidopathy",
            "description": ""
        },
        {
            "id": "MIM:612073",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612073",
            "name": "Mitochondrial DNA depletion syndrome 5",
            "description": "Mitochondrial DNA depletion syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080124"
    ],
    "unlinked_id_list": []
}