{
    "disease_id": "DOID:0111467",
    "recommended_name": {
        "id": "DOID:0111467",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111467",
        "name": "combined oxidative phosphorylation deficiency 13",
        "description": "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111467",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111467",
            "name": "COXPD13",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation defect type 13",
            "description": "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive."
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation deficiency 13",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation deficiency 13; COXPD13",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "PNPT1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "COXPD13",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in PNPT1",
            "description": ""
        },
        {
            "id": "MONDO:0013977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013977",
            "name": "combined oxidative phosphorylation deficiency type 13",
            "description": ""
        },
        {
            "id": "MIM:614932",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614932",
            "name": "Combined oxidative phosphorylation deficiency 13",
            "description": "Combined oxidative phosphorylation deficiency 13"
        }
    ]
}