{
    "disease_id": "DOID:0060710",
    "recommended_name": {
        "id": "DOID:0060710",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060710",
        "name": "autosomal recessive congenital ichthyosis 2",
        "description": "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060710",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060710",
            "name": "ARCI2",
            "description": ""
        },
        {
            "id": "DOID:0060710",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060710",
            "name": "NCIE1",
            "description": ""
        },
        {
            "id": "DOID:0060710",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060710",
            "name": "nonbullous congenital ichthyosiform erythroderma 1",
            "description": ""
        },
        {
            "id": "DOID:0060710",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060710",
            "name": "BROCQ congenital ichthyosiform erythroderma nonbullous form",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "autosomal recessive congenital ichthyosis 2",
            "description": "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin."
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "Brocq congenital ichthyosiform erythroderma nonbullous form",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosis, congenital, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "NCIE",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosis, congenital, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "nonbullous congenital ichthyosiform erythroderma 1",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "NCIE1",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosis, congenital, autosomal recessive 2; ARCI2",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosiform erythroderma, congenital, nonbullous, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosiform erythroderma, Brocq congenital, nonbullous form",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosiform erythroderma, nonbullous congenital, 1, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "NBCIE",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "autosomal recessive congenital ichthyosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ichthyosiform erythroderma, nonbullous congenital, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "ARCI2",
            "description": ""
        },
        {
            "id": "MONDO:0009439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "name": "collodion baby, self-healing",
            "description": ""
        },
        {
            "id": "MIM:242100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242100",
            "name": "Ichthyosis, congenital, autosomal recessive 2",
            "description": "Ichthyosis, congenital, autosomal recessive 2"
        }
    ]
}