{
    "disease_id": "DOID:0060738", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "junctional epidermolysis bullosa, non-Herlitz type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "JEB-nH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "epidermolysis bullosa Junctionalis, progressive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "JEB-I"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "epidermolysis bullosa, generalized atrophic benign"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "epidermolysis bullosa Junctionalis, severe Nonlethal"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "junctional epidermolysis bullosa inversa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "epidermolysis bullosa, junctional, non-Herlitz type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "JEN-nH"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "epidermolysis bullosa Junctionalis, Disentis type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "epidermolysis bullosa, junctional, Localisata variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009180", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009180", 
            "name": "epidermolysis bullosa Junctionalis, non-Herlitz type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060738", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060738", 
            "name": "junctional epidermolysis bullosa generalisata mitis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060738", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060738", 
            "name": "GABEB"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060738", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060738", 
            "name": "JEB-nH gen"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060738", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060738", 
            "name": "JEN-nH"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060738", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060738", 
            "name": "generalized atrophic benign epidermolysis bullosa"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060738", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060738", 
            "name": "junctional epidermolysis bullosa, Disentis type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060738", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060738", 
            "name": "generalized junctional epidermolysis bullosa, non-Herlitz type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060738", 
        "description": "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060738", 
        "name": "junctional epidermolysis bullosa non-Herlitz type"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060738#disease-associations", 
            "id": "0060738", 
            "database": "Alliance of Genome Resources"
        }
    ]
}