{
    "disease_id": "DOID:0080224",
    "recommended_name": {
        "id": "DOID:0080224",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080224",
        "name": "autosomal dominant dystrophic epidermolysis bullosa",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "generalized dominant dystrophic epidermolysis bullosa",
            "description": "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails."
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "DDEB, Pasini and Cockayne-Touraine types",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "DDEB, generalised",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "DDEB, generalized",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "DDEB-gen",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "epidermolysis bullosa dystrophica, AD",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "DDEB",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "dominant dystrophic epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "dominant dystrophic epidermolysis bullosa, generalised",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "dominant dystrophic epidermolysis bullosa, generalized",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "epidermolysis bullosa dystrophica, Pasini type (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0007549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007549",
            "name": "epidermolysis bullosa dystrophica, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:131750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131750",
            "name": "Epidermolysis bullosa dystrophica, autosomal dominant",
            "description": "Epidermolysis bullosa dystrophica, autosomal dominant"
        }
    ],
    "children": [
        {
            "id": "DOID:0111347",
            "label": "epidermolysis bullosa with congenital localized absence of skin and deformity of nails",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080224",
        "DOID:0111347"
    ],
    "unlinked_id_list": []
}