{
    "disease_id": "DOID:0080127", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "Mngie, Rrm2B-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "RRM2B-related mitochondrial DNA depletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "RRM2B mitochondrial DNA depletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "MTDPS8A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial DNA depletion syndrome 8B (Mngie type)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "encephalomyopathic type with renal tubulopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial DNA depletion syndrome type 8a"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial DNA depletion syndrome caused by mutation in RRM2B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012792", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012792", 
            "name": "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080127", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080127", 
            "name": "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080127", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080127", 
        "name": "mitochondrial DNA depletion syndrome 8a"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080127#disease-associations", 
            "id": "0080127", 
            "database": "Alliance of Genome Resources"
        }
    ]
}