{
    "disease_id": "DOID:0060717",
    "recommended_name": {
        "id": "DOID:0060717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060717",
        "name": "autosomal recessive congenital ichthyosis 8",
        "description": "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060717",
            "name": "ARCI8",
            "description": ""
        },
        {
            "id": "DOID:0060717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060717",
            "name": "lamellar ichthyosis 4",
            "description": ""
        },
        {
            "id": "DOID:0060717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060717",
            "name": "late-onset lamellar ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "autosomal recessive congenital ichthyosis 8",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene."
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ARCI8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "autosomal recessive congenital ichthyosis type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ichthyosis, congenital, autosomal recessive type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ichthyosis, congenital, autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MONDO:0013495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013495",
            "name": "ichthyosis, lamellar, 4",
            "description": ""
        },
        {
            "id": "MIM:613943",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613943",
            "name": "Ichthyosis, congenital, autosomal recessive 8",
            "description": "Ichthyosis, congenital, autosomal recessive 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060717"
    ],
    "unlinked_id_list": []
}