{
    "disease_id": "DOID:0060712",
    "recommended_name": {
        "id": "DOID:0060712",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060712",
        "name": "autosomal recessive congenital ichthyosis 4A",
        "description": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060712",
            "name": "ARCI4A",
            "description": ""
        },
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060712",
            "name": "ICR2B",
            "description": ""
        },
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060712",
            "name": "ichthyosis congenita IIB",
            "description": ""
        },
        {
            "id": "DOID:0060712",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060712",
            "name": "lamellar ichthyosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "autosomal recessive congenital ichthyosis 4A",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene."
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "autosomal recessive congenital ichthyosis type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis lamellar 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis congenita IIB",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, congenital, autosomal recessive type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "lamellar ichthyosis, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, lamellar, 2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, congenital, autosomal recessive 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "LI2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "lamellar ichthyosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ARCI4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, lamellar, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis, congenital, autosomal recessive 4A; ARCI4A",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ICR2B",
            "description": ""
        },
        {
            "id": "MONDO:0011026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011026",
            "name": "ichthyosis congenita 2B",
            "description": ""
        },
        {
            "id": "MIM:601277",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601277",
            "name": "Ichthyosis, congenital, autosomal recessive 4A",
            "description": "Ichthyosis, congenital, autosomal recessive 4A"
        }
    ]
}