{
    "disease_id": "DOID:4644", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "KRT14-related epidermolysis bullosa simplex"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "epidermolysis bullosa simplex, autosomal recessive 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "epidermolysis bullosa simplex, autosomal recessive K14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "KRT14-related autosomal recessive epidermolysis bullosa simplex"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "EBS-AR KRT14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "epidermolysis bullosa simplex, autosomal recessive type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "EBS, autosomal recessive K14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "KRT14-related autosomal recessive EBS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "EBSB1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010976", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010976", 
            "name": "epidermolysis bullosa simplex, autosomal recessive 1; EBSB1"
        }, 
        {
            "url": "https://www.omim.org/entry/601001", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:601001", 
            "name": "Epidermolysis bullosa simplex, autosomal recessive 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:4644", 
        "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", 
        "resource": "Disease Ontology", 
        "id": "DOID:4644", 
        "name": "epidermolysis bullosa simplex"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/601001", 
            "id": "601001", 
            "database": "MIM"
        }
    ]
}