{
    "disease_id": "DOID:0110632",
    "recommended_name": {
        "id": "DOID:0110632",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110632",
        "name": "megaconial type congenital muscular dystrophy",
        "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110632",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110632",
            "name": "congenital megaconial myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110632",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110632",
            "name": "megaconial congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110632",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110632",
            "name": "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect",
            "description": ""
        },
        {
            "id": "DOID:0110632",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110632",
            "name": "congenital muscular dystrophy with mitochondrial structural abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "megaconial type congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "muscular dystrophy, congenital, with mitochondrial structural abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "muscular dystrophy, congenital, megaconial type",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "megaconial congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "congenital muscular dystrophy with mitochondrial structural abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "muscular dystrophy, congenital, megaconial type; MDCMC",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "MDCMC",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "congenital megaconial myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011246",
            "name": "megaconial congnital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MIM:602541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602541",
            "name": "Muscular dystrophy, congenital, megaconial type",
            "description": "Muscular dystrophy, congenital, megaconial type"
        }
    ]
}