{
    "disease_id": "DOID:0060656",
    "recommended_name": {
        "id": "DOID:0060656",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060656",
        "name": "autosomal recessive congenital ichthyosis 1",
        "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 TGM1 gene on chromosome 14q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060656",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060656",
            "name": "ARCI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis 1",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene."
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, lamellar, 1, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "lamellar ichthyosis, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "lamellar exfoliation of newborn",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, lamellar, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "LI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive 1; ARCI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "bathing suit ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis congenita 2",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "desquamation of newborn",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ARCI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "collodion baby, self-healing",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis lamellar 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "collodion fetus",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MIM:242300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242300",
            "name": "Ichthyosis, congenital, autosomal recessive 1",
            "description": "Ichthyosis, congenital, autosomal recessive 1"
        }
    ]
}