{
    "disease_id": "DOID:0080258",
    "recommended_name": {
        "id": "DOID:0080258",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080258",
        "name": "autosomal recessive congenital ichthyosis 14",
        "description": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "name": "ichthyosis, congenital, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MONDO:0033091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "name": "ichthyosis, congenital, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MONDO:0033091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "name": "ARCI14",
            "description": ""
        },
        {
            "id": "MONDO:0033091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "name": "autosomal recessive congenital ichthyosis 14",
            "description": ""
        },
        {
            "id": "MIM:617571",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617571",
            "name": "Ichthyosis, congenital, autosomal recessive 14",
            "description": "Ichthyosis, congenital, autosomal recessive 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080258"
    ],
    "unlinked_id_list": []
}