{
    "disease_id": "DOID:0080124", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial DNA depletion syndrome type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "encephalomyopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "MTDPS5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial encephalomyopathy aminoacidopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); MTDPS5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "booth-Haworth-Dilling syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial encephalomyopathy-aminoacidopathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012791", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012791", 
            "name": "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080124", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080124", 
            "name": "succinate-CoA ligase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080124", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080124", 
        "name": "mitochondrial DNA depletion syndrome 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080124#disease-associations", 
            "id": "0080124", 
            "database": "Alliance of Genome Resources"
        }
    ]
}