{
    "disease_id": "DOID:0080224", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "generalized dominant dystrophic epidermolysis bullosa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "epidermolysis bullosa dystrophica, Pasini type (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "epidermolysis bullosa dystrophica, Pasini type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "epidermolysis bullosa dystrophica, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "dystrophic epidermolysis bullosa, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "dominant dystrophic epidermolysis bullosa, generalized"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "epidermolysis bullosa dystrophica, Cockayne-Touraine type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "dominant dystrophic epidermolysis bullosa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "DDEB, generalized"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "epidermolysis bullosa dystrophica with subcorneal Cleavage"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "DDEB, Pasini and Cockayne-Touraine types"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "epidermolysis bullosa dystrophica, autosomal dominant; DDEB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "DDEB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "Albopapuloid dominant dystrophic epidermolysis bullosa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007549", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007549", 
            "name": "DDEB-gen"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080224", 
        "description": "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080224", 
        "name": "autosomal dominant dystrophic epidermolysis bullosa"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080224#disease-associations", 
            "id": "0080224", 
            "database": "Alliance of Genome Resources"
        }
    ]
}