{
    "disease_id": "DOID:0111502",
    "recommended_name": {
        "id": "DOID:0111502",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111502",
        "name": "combined oxidative phosphorylation deficiency 6",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6",
            "description": ""
        },
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "COXPD6",
            "description": ""
        },
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "Mitochondrial encephalomyopathy due to COXPD6",
            "description": ""
        },
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "severe X-linked mitochondrial encephalomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "severe X-linked mitochondrial encephalomyopathy",
            "description": "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date."
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "combined oxidative phosphorylation deficiency 6, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "combined oxidative phosphorylation deficiency type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "mitochondrial encephalomyopathy due to COXPD6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "COXPD6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "combined oxidative phosphorylation deficiency 6",
            "description": ""
        },
        {
            "id": "MIM:300816",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300816",
            "name": "Combined oxidative phosphorylation deficiency 6",
            "description": "Combined oxidative phosphorylation deficiency 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111502"
    ],
    "unlinked_id_list": []
}