{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "MTDPS11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "PEO-myopathy-emaciation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "mitochondrial DNA depletion syndrome caused by mutation in MGME1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "mtDNA maintenance syndrome due to MGME1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "mitochondrial DNA depletion syndrome type 11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "mitochondrial DNA maintenance syndrome due to MGME1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "mitochondrial DNA depletion syndrome 11; MTDPS11"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "progressive external ophthalmoplegia-myopathy-emaciation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014039", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014039", 
            "name": "MGME1 mitochondrial DNA depletion syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080129", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080129", 
            "name": "progressive external ophthalmoplegia-myopathy-emaciation syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080129", 
        "description": "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080129", 
        "name": "mitochondrial DNA depletion syndrome 11"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/615084", 
            "id": "615084", 
            "database": "MIM"
        }
    ]
}