{
    "disease_id": "DOID:0060736",
    "recommended_name": {
        "id": "DOID:0060736",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060736",
        "name": "epidermolysis bullosa simplex Ogna type",
        "description": "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060736",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060736",
            "name": "EBS-O",
            "description": ""
        },
        {
            "id": "DOID:0060736",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060736",
            "name": "EBS-Og",
            "description": ""
        },
        {
            "id": "DOID:0060736",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060736",
            "name": "EBSOG",
            "description": ""
        },
        {
            "id": "MONDO:0007555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007555",
            "name": "epidermolysis bullosa simplex 5A, Ogna type",
            "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering."
        },
        {
            "id": "MONDO:0007555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007555",
            "name": "EBS-O",
            "description": ""
        },
        {
            "id": "MONDO:0007555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007555",
            "name": "EBS-Og",
            "description": ""
        },
        {
            "id": "MONDO:0007555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007555",
            "name": "EBSOG",
            "description": ""
        },
        {
            "id": "MONDO:0007555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007555",
            "name": "epidermolysis bullosa simplex 5A, Ogna type",
            "description": ""
        },
        {
            "id": "MONDO:0007555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007555",
            "name": "epidermolysis bullosa simplex, Ogna type",
            "description": ""
        },
        {
            "id": "MIM:131950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131950",
            "name": "Epidermolysis bullosa simplex 5A, Ogna type",
            "description": "Epidermolysis bullosa simplex 5A, Ogna type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060736"
    ],
    "unlinked_id_list": []
}