{
    "disease_id": "DOID:0060642", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "RDEB, Hallopeau-Siemens type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "RDEB generalisata gravis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "dystrophic epidermolysis bullosa, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "epidermolysis bullosa dystrophica, Hallopeau-Siemens type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "RDEB, severe generalized"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "epidermolysis bullosa dystrophica, autosomal recessive; RDEB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "epidermolysis bullosa dystrophica inversa, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "severe generalized RDEB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "RDEB-sev gen"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "RDEB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "recessive dystrophic epidermolysis bullosa, severe generalized"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "severe generalized recessive dystrophic epidermolysis bullosa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009179", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009179", 
            "name": "epidermolysis bullosa dystrophica, autosomal recessive"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060642", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060642", 
            "name": "RDEB, Hallopeau-Siemens type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060642", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060642", 
            "name": "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060642", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060642", 
            "name": "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060642", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060642", 
        "name": "recessive dystrophic epidermolysis bullosa"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060642#disease-associations", 
            "id": "0060642", 
            "database": "Alliance of Genome Resources"
        }
    ]
}