{
    "disease_id": "DOID:0060642",
    "recommended_name": {
        "id": "DOID:0060642",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060642",
        "name": "recessive dystrophic epidermolysis bullosa",
        "description": "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060642",
            "name": "RDEB, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "DOID:0060642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060642",
            "name": "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis",
            "description": ""
        },
        {
            "id": "DOID:0060642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060642",
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "recessive dystrophic epidermolysis bullosa",
            "description": "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement."
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "EBD inversa",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB generalisata gravis",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB-sev gen",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, AR",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, autosomal recessive, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "severe generalised RDEB",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "severe generalised recessive dystrophic epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB, severe generalised",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "RDEB, severe generalized",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "recessive dystrophic epidermolysis bullosa, severe generalised",
            "description": ""
        },
        {
            "id": "MONDO:0009179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009179",
            "name": "recessive dystrophic epidermolysis bullosa, severe generalized",
            "description": ""
        },
        {
            "id": "MIM:226600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226600",
            "name": "Epidermolysis bullosa dystrophica, autosomal recessive",
            "description": "Epidermolysis bullosa dystrophica, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060642"
    ],
    "unlinked_id_list": []
}