{
    "disease_id": "DOID:0080127",
    "recommended_name": {
        "id": "DOID:0080127",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080127",
        "name": "mitochondrial DNA depletion syndrome 8a",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080127",
            "name": "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome 8a",
            "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene."
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "RRM2B mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in RRM2B",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome type 8a",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "MTDPS8A",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "RRM2B-related mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "encephalomyopathic type with renal tubulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012792",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012792",
            "name": "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)",
            "description": ""
        },
        {
            "id": "MIM:612075",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612075",
            "name": "Mitochondrial DNA depletion syndrome 8A",
            "description": "Mitochondrial DNA depletion syndrome 8A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080127"
    ],
    "unlinked_id_list": []
}