{
    "disease_id": "DOID:0060737",
    "recommended_name": {
        "id": "DOID:0060737",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060737",
        "name": "junctional epidermolysis bullosa Herlitz type",
        "description": "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in  mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa."
    },
    "synonyms": [
        {
            "id": "DOID:0060737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060737",
            "name": "Herlitz type epidermolysis bullosa junctionalis",
            "description": ""
        },
        {
            "id": "DOID:0060737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060737",
            "name": "Herlitz-Pearson-type epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "DOID:0060737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060737",
            "name": "JEB-H",
            "description": ""
        },
        {
            "id": "DOID:0060737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060737",
            "name": "JEB-Herlitz type",
            "description": ""
        },
        {
            "id": "DOID:0060737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060737",
            "name": "epidermolysis bullosa letalis",
            "description": ""
        },
        {
            "id": "DOID:0060737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060737",
            "name": "junctional epidermolysis bullosa, Herlitz-Pearson type",
            "description": ""
        },
        {
            "id": "DOID:0060737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060737",
            "name": "junctional epidermolysis bullosa generalisata gravis",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "junctional epidermolysis bullosa Herlitz type",
            "description": "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes."
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "Herlitz-Pearson-type epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "epidermolysis bullosa, junctional, Herlitz-Pearson type",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "epidermolysis bullosa, junctional, Herlitz type",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "junctional epidermolysis bullosa, Herlitz-Pearson type",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "epidermolysis bullosa Junctionalis, Herlitz type",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "junctional epidermolysis bullosa, generalized severe",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "epidermolysis bullosa letalis",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "junctional epidermolysis bullosa, Herlitz type",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "JEB-Herlitz type",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "JEB-H",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "Herlitz type epidermolysis bullosa junctionalis",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "junctional epidermolysis bullosa generalisata gravis",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "Herlitz-Pearson type epidermolysis bullosa",
            "description": ""
        },
        {
            "id": "MONDO:0009182",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009182",
            "name": "JEB, generalized severe",
            "description": ""
        },
        {
            "id": "MIM:226700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226700",
            "name": "Epidermolysis bullosa, junctional, Herlitz type",
            "description": "Epidermolysis bullosa, junctional, Herlitz type"
        }
    ]
}
