{
    "disease_id": "DOID:0110632", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "muscular dystrophy, congenital, with mitochondrial structural abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "muscular dystrophy, congenital, megaconial type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "megaconial congenital muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "congenital muscular dystrophy with mitochondrial structural abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "muscular dystrophy, congenital, megaconial type; MDCMC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "MDCMC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "congenital megaconial myopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011246", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011246", 
            "name": "megaconial congnital muscular dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110632", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110632", 
            "name": "congenital megaconial myopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110632", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110632", 
            "name": "megaconial congenital muscular dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110632", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110632", 
            "name": "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110632", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110632", 
            "name": "congenital muscular dystrophy with mitochondrial structural abnormalities"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110632", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110632", 
        "name": "megaconial type congenital muscular dystrophy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110632#disease-associations", 
            "id": "0110632", 
            "database": "Alliance of Genome Resources"
        }
    ]
}