{
    "disease_id": "DOID:0060877",
    "recommended_name": {
        "id": "DOID:0060877",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060877",
        "name": "bullous congenital ichthyosiform erythroderma",
        "description": "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060877",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060877",
            "name": "bullous type ichthyosis",
            "description": ""
        },
        {
            "id": "DOID:0060877",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060877",
            "name": "ichthyosis bullosa of Siemens",
            "description": ""
        },
        {
            "id": "DOID:0060877",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060877",
            "name": "superficial epidermolytic ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "ichthyosis bullosa of Siemens",
            "description": "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth."
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "ichthyosis bullosa of Siemens",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "SEI",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "IBS",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "bullous type of ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "superficial epidermolytic ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "ichthyosis bullosa of Siemens; IBS",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "ichthyosis exfoliativa",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "bullous type ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0007813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007813",
            "name": "ichthyosis, bullous type",
            "description": ""
        },
        {
            "id": "MIM:146800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/146800",
            "name": "Ichthyosis bullosa of Siemens",
            "description": "Ichthyosis bullosa of Siemens"
        }
    ]
}