{
    "disease_id": "DOID:0080129",
    "recommended_name": {
        "id": "DOID:0080129",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080129",
        "name": "mitochondrial DNA depletion syndrome 11",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080129",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080129",
            "name": "progressive external ophthalmoplegia-myopathy-emaciation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "mitochondrial DNA depletion syndrome 11",
            "description": "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported."
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "MTDPS11",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "PEO-myopathy-emaciation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in MGME1",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "mtDNA maintenance syndrome due to MGME1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "mitochondrial DNA depletion syndrome type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "mitochondrial DNA maintenance syndrome due to MGME1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "mitochondrial DNA depletion syndrome 11; MTDPS11",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "progressive external ophthalmoplegia-myopathy-emaciation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "MGME1 mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014039",
            "name": "mitochondrial DNA depletion syndrome 11",
            "description": ""
        },
        {
            "id": "MIM:615084",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615084",
            "name": "Mitochondrial DNA depletion syndrome 11",
            "description": "Mitochondrial DNA depletion syndrome 11"
        }
    ]
}