{
    "disease_id": "DOID:0090017",
    "recommended_name": {
        "id": "DOID:0090017",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090017",
        "name": "epidermolysis bullosa simplex with muscular dystrophy",
        "description": "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0090017",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090017",
            "name": "limb-girdle muscular dystrophy with epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "DOID:0090017",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090017",
            "name": "epidermolysis bullosa simplex and limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex 5B, with muscular dystrophy",
            "description": "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy."
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "EBS-MD",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex 5B, with muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex and limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex with muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "limb-girdle muscular dystrophy with epidermolysis bullosa simplex",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "EBSMD",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "Epidermolysa bullosa simplex and limb girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "Epidermolysa bullosa simplex with muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "MD-EBS",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "MDEBS",
            "description": ""
        },
        {
            "id": "MONDO:0009181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009181",
            "name": "epidermolysis bullosa simplex - limb girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MIM:226670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226670",
            "name": "Epidermolysis bullosa simplex 5B, with muscular dystrophy",
            "description": "Epidermolysis bullosa simplex 5B, with muscular dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090017"
    ],
    "unlinked_id_list": []
}