{
    "disease_id": "DOID:0111491",
    "recommended_name": {
        "id": "DOID:0111491",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111491",
        "name": "combined oxidative phosphorylation deficiency 15",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111491",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111491",
            "name": "COXPD15",
            "description": ""
        },
        {
            "id": "MONDO:0013987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013987",
            "name": "combined oxidative phosphorylation defect type 15",
            "description": "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported."
        },
        {
            "id": "MONDO:0013987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013987",
            "name": "COXPD15",
            "description": ""
        },
        {
            "id": "MONDO:0013987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013987",
            "name": "MTFMT combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013987",
            "name": "combined oxidative phosphorylation defect type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013987",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MTFMT",
            "description": ""
        },
        {
            "id": "MONDO:0013987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013987",
            "name": "combined oxidative phosphorylation deficiency type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013987",
            "name": "combined oxidative phosphorylation deficiency 15",
            "description": ""
        },
        {
            "id": "MIM:614947",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614947",
            "name": "Combined oxidative phosphorylation deficiency 15",
            "description": "Combined oxidative phosphorylation deficiency 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111491"
    ],
    "unlinked_id_list": []
}