{
    "disease_id": "DOID:0080257", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033092", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033092", 
            "name": "ichthyosis, congenital, autosomal recessive 13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033092", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033092", 
            "name": "ARCI13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033092", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033092", 
            "name": "ichthyosis, congenital, autosomal recessive 13; ARCI13"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080257", 
        "description": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in  homozygous mutation in the SDR9C7 gene on chromosome 12q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080257", 
        "name": "autosomal recessive congenital ichthyosis 13"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080257#disease-associations", 
            "id": "0080257", 
            "database": "Alliance of Genome Resources"
        }
    ]
}