{
    "disease_id": "DOID:0111469",
    "recommended_name": {
        "id": "DOID:0111469",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111469",
        "name": "combined oxidative phosphorylation deficiency 16",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111469",
            "name": "COXPD16",
            "description": ""
        },
        {
            "id": "DOID:0111469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111469",
            "name": "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency",
            "description": "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life."
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "COXPD16",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "MRPL44 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation defect type 16",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MRPL44",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation deficiency type 16",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation deficiency 16",
            "description": ""
        },
        {
            "id": "MIM:615395",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615395",
            "name": "Combined oxidative phosphorylation deficiency 16",
            "description": "Combined oxidative phosphorylation deficiency 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111469"
    ],
    "unlinked_id_list": []
}