{
    "disease_id": "DOID:0060735",
    "recommended_name": {
        "id": "DOID:0060735",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060735",
        "name": "generalized severe epidermolysis bullosa simplex 1A",
        "description": "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in the Keratin 14 (KRT14) gene on chromosome 17q21 either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases."
    },
    "synonyms": [
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "EBS-gen sev",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "EBSDM",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa herpetiformis Dowling-Meara type",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa simplex, herpetiformis",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "generalized severe epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa simplex Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex 1A, generalized severe",
            "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration."
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBS, generalised severe",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBS, generalized severe",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBSDM",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex 1A, generalized severe",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "generalised severe epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "Dowling-Meara type epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "EBS-DM",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex, Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex, generalised severe",
            "description": ""
        },
        {
            "id": "MIM:131760",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131760",
            "name": "Epidermolysis bullosa simplex 1A, generalized severe",
            "description": "Epidermolysis bullosa simplex 1A, generalized severe"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060735"
    ],
    "unlinked_id_list": []
}