{
    "disease_id": "DOID:0060738",
    "recommended_name": {
        "id": "DOID:0060738",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060738",
        "name": "junctional epidermolysis bullosa non-Herlitz type",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060738",
            "name": "junctional epidermolysis bullosa generalisata mitis",
            "description": ""
        },
        {
            "id": "DOID:0060738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060738",
            "name": "GABEB",
            "description": ""
        },
        {
            "id": "DOID:0060738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060738",
            "name": "JEB-nH gen",
            "description": ""
        },
        {
            "id": "DOID:0060738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060738",
            "name": "JEN-nH",
            "description": ""
        },
        {
            "id": "DOID:0060738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060738",
            "name": "generalized atrophic benign epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "DOID:0060738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060738",
            "name": "junctional epidermolysis bullosa, Disentis type",
            "description": ""
        },
        {
            "id": "DOID:0060738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060738",
            "name": "generalized junctional epidermolysis bullosa, non-Herlitz type",
            "description": ""
        },
        {
            "id": "MONDO:0009180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009180",
            "name": "junctional epidermolysis bullosa, non-Herlitz type",
            "description": "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia."
        },
        {
            "id": "MONDO:0009180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009180",
            "name": "JEN-nH",
            "description": ""
        },
        {
            "id": "MONDO:0009180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009180",
            "name": "JEB-nH",
            "description": ""
        },
        {
            "id": "MONDO:0009180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009180",
            "name": "epidermolysis bullosa, generalised atrophic benign",
            "description": ""
        },
        {
            "id": "MIM:226650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226650",
            "name": "Epidermolysis bullosa, junctional 1A, intermediate",
            "description": "Epidermolysis bullosa, junctional 1A, intermediate"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060738"
    ],
    "unlinked_id_list": []
}