{
    "disease_id": "DOID:0111346",
    "recommended_name": {
        "id": "DOID:0111346",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111346",
        "name": "epidermolysis bullosa simplex with mottled pigmentation",
        "description": "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111346",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111346",
            "name": "EBSMP",
            "description": ""
        },
        {
            "id": "DOID:0111346",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111346",
            "name": "Epidermolysis bullosa simplex-MP",
            "description": ""
        },
        {
            "id": "DOID:0111346",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111346",
            "name": "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "epidermolysis bullosa simplex with mottled pigmentation",
            "description": "Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation."
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "EBS-MP",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "epidermolysis bullosa simplex with mottled pigmentation; EBSMP",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "EBS with mottled pigmentation",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "EBSMP",
            "description": ""
        },
        {
            "id": "MONDO:0007556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007556",
            "name": "epidermolysis bullosa simplex with mottled pigmentation",
            "description": ""
        },
        {
            "id": "MIM:131960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131960",
            "name": "Epidermolysis bullosa simplex 2F, with mottled pigmentation",
            "description": "Epidermolysis bullosa simplex 2F, with mottled pigmentation"
        }
    ]
}