{
    "disease_id": "DOID:0090017", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "Epidermolysa bullosa simplex and limb girdle muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "EBSMD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "epidermolysis bullosa simplex - limb girdle muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "epidermolysis bullosa simplex with muscular dystrophy; EBSMD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "Epidermolysa bullosa simplex with muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "EBS-MD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "MD-EBS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "epidermolysis bullosa simplex and limb-girdle muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009181", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009181", 
            "name": "MDEBS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090017", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090017", 
            "name": "limb-girdle muscular dystrophy with epidermolysis bullosa simplex"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090017", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090017", 
            "name": "epidermolysis bullosa simplex and limb-girdle muscular dystrophy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090017", 
        "description": "An syndrome characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090017", 
        "name": "epidermolysis bullosa simplex with muscular dystrophy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090017#disease-associations", 
            "id": "0090017", 
            "database": "Alliance of Genome Resources"
        }
    ]
}