{
    "disease_id": "DOID:0060735",
    "recommended_name": {
        "id": "DOID:0060735",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060735",
        "name": "epidermolysis bullosa simplex Dowling-Meara type",
        "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 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": "http://disease-ontology.org/term/DOID:0060735",
            "name": "EBS-gen sev",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060735",
            "name": "EBSDM",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa herpetiformis Dowling-Meara type",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060735",
            "name": "epidermolysis bullosa simplex, herpetiformis",
            "description": ""
        },
        {
            "id": "DOID:0060735",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060735",
            "name": "generalized severe epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex Dowling-Meara type",
            "description": "Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) 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-DM",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "generalized severe epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex, generalized 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": "epidermolysis bullosa simplex, herpetiformis",
            "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": "Dowling-Meara type epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa herpetiformis, Dowling-Meara type",
            "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": "EBS-gen sev",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa herpetiformis Dowling-Meara type",
            "description": ""
        },
        {
            "id": "MONDO:0007550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007550",
            "name": "epidermolysis bullosa simplex, Dowling-Meara type; EBSDM",
            "description": ""
        },
        {
            "id": "MIM:131760",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131760",
            "name": "Epidermolysis bullosa simplex, Dowling-Meara type",
            "description": "Epidermolysis bullosa simplex, Dowling-Meara type"
        }
    ]
}