{
    "disease_id": "DOID:0111346", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007556", 
            "name": "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007556", 
            "name": "EBS-MP"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007556", 
            "name": "epidermolysis bullosa simplex with mottled pigmentation; EBSMP"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007556", 
            "name": "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007556", 
            "name": "EBS with mottled pigmentation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007556", 
            "name": "EBSMP"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111346", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111346", 
            "name": "EBSMP"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111346", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111346", 
            "name": "Epidermolysis bullosa simplex-MP"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111346", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111346", 
            "name": "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111346", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111346", 
        "name": "epidermolysis bullosa simplex with mottled pigmentation"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111346#disease-associations", 
            "id": "0111346", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
