{
    "disease_id": "DOID:0080511",
    "recommended_name": {
        "id": "DOID:0080511",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080511",
        "name": "generalized intermediate epidermolysis bullosa simplex 1B",
        "description": "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy and has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080511",
            "name": "epidermolysis bullosa simplex generalized type",
            "description": ""
        },
        {
            "id": "DOID:0080511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080511",
            "name": "epidermolysis bullosa simplex Koebner type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex 1B, generalized intermediate",
            "description": "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction."
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "EBS, generalised intermediate",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "EBS, generalized intermediate",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex 1B, generalized intermediate",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex, Kobner type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex, Koebner type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex, Kbner type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "generalised EBS, non-Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "generalised epidermolysis bullosa simplex, non-Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "generalized EBS, non-Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "generalized epidermolysis bullosa simplex, non-Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "EBS, generalised",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "EBS-K",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex, generalised",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex, generalised intermediate",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex, generalised non-Dowling-Meara",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "epidermolysis bullosa simplex, generalized non-Dowling-Meara",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "generalised EBS",
            "description": ""
        },
        {
            "id": "MONDO:0007554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007554",
            "name": "generalized EBS",
            "description": ""
        },
        {
            "id": "MIM:131900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131900",
            "name": "Epidermolysis bullosa simplex 1B, generalized intermediate",
            "description": "Epidermolysis bullosa simplex 1B, generalized intermediate"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080511"
    ],
    "unlinked_id_list": []
}