{
    "disease_id": "DOID:0060710",
    "recommended_name": {
        "id": "DOID:0060710",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0060710",
            "name": "ARCI2",
            "description": ""
        },
        {
            "id": "DOID:0060710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060710",
            "name": "NCIE1",
            "description": ""
        },
        {
            "id": "DOID:0060710",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060710",
            "name": "nonbullous congenital ichthyosiform erythroderma 1",
            "description": ""
        },
        {
            "id": "DOID:0060710",
            "resource": "Disease Ontology",
            "url": "https://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": "ARCI2",
            "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": "ichthyosis, congenital, autosomal recessive type 2",
            "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": "NCIE",
            "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, congenital, nonbullous, 1",
            "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": "ichthyosis, congenital, autosomal recessive 2",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060710"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060710",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060710",
            "categories": []
        },
        {
            "id": "MONDO:0009439",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009439",
            "categories": []
        },
        {
            "id": "MIM:242100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/242100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YX78-1",
            "uniprot_ac": "A0A8M6YX78",
            "uniprot_id": "A0A8M6YX78_DANRE",
            "refseq_ac": "XP_017208558",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroperoxide isomerase ALOXE3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-17e16.9",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-17e16.9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YX78-1",
            "evidence": [
                {
                    "id": "0060710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060710"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QKM3-1",
            "uniprot_ac": "F1QKM3",
            "uniprot_id": "F1QKM3_DANRE",
            "refseq_ac": "NP_001070178",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.13.11.12",
                    "type": "synonym"
                },
                {
                    "name": "ALOX4b",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein LOC767741",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC767741",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zgc:152891",
                    "type": "recommended"
                },
                {
                    "name": "zgc:153926",
                    "type": "recommended"
                },
                {
                    "name": "alox12b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi89d03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152891",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153926",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QKM3-1",
            "evidence": [
                {
                    "id": "0060710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060710"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70582-1",
            "uniprot_ac": "O70582",
            "uniprot_id": "LX12B_MOUSE",
            "refseq_ac": "NP_033789",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arachidonate 12-lipoxygenase, 12R-type",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.-",
                    "type": "synonym"
                },
                {
                    "name": "12R-LOX",
                    "type": "synonym"
                },
                {
                    "name": "12R-lipoxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 12",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 2",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate 12-lipoxygenase, 12R-type",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 12",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alox12b",
                    "type": "recommended"
                },
                {
                    "name": "12R-LOX",
                    "type": "synonym"
                },
                {
                    "name": "Alox12b",
                    "type": "synonym"
                },
                {
                    "name": "Aloxe2",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX2",
                    "type": "synonym"
                }
            ],
            "record_id": "O70582-1",
            "evidence": [
                {
                    "id": "0060710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060710"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75342-1",
            "uniprot_ac": "O75342",
            "uniprot_id": "LX12B_HUMAN",
            "refseq_ac": "NP_001130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arachidonate 12-lipoxygenase, 12R-type",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.-",
                    "type": "synonym"
                },
                {
                    "name": "12R-LOX",
                    "type": "synonym"
                },
                {
                    "name": "12R-lipoxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 12",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate 12-lipoxygenase, 12R-type",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALOX12B",
                    "type": "recommended"
                },
                {
                    "name": "12R-LOX",
                    "type": "synonym"
                },
                {
                    "name": "ALOX12B",
                    "type": "synonym"
                },
                {
                    "name": "ARCI2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75342-1",
            "evidence": [
                {
                    "id": "242100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/242100"
                },
                {
                    "id": "0060710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060710"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2KMM4-1",
            "uniprot_ac": "Q2KMM4",
            "uniprot_id": "LX12B_RAT",
            "refseq_ac": "NP_001034466",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arachidonate 12-lipoxygenase, 12R-type",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.-",
                    "type": "synonym"
                },
                {
                    "name": "12R-LOX",
                    "type": "synonym"
                },
                {
                    "name": "12R-lipoxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 12",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate 12-lipoxygenase, 12R-type",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alox12b",
                    "type": "recommended"
                },
                {
                    "name": "Alox12b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2KMM4-1",
            "evidence": [
                {
                    "id": "0060710",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060710"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060710"
}