{
    "disease_id": "DOID:0060715",
    "recommended_name": {
        "id": "DOID:0060715",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060715",
        "name": "autosomal recessive congenital ichthyosis 6",
        "description": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "DOID:0060715",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060715",
            "name": "ARCI6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "autosomal recessive congenital ichthyosis 6",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene."
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "ARCI6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "autosomal recessive congenital ichthyosis type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "ichthyosis, congenital, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "ichthyosis, congenital, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0012847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012847",
            "name": "ichthyosis, congenital, autosomal recessive, Nipal4-related",
            "description": ""
        },
        {
            "id": "MIM:612281",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612281",
            "name": "Ichthyosis, congenital, autosomal recessive 6",
            "description": "Ichthyosis, congenital, autosomal recessive 6"
        }
    ]
}