{
    "disease_id": "DOID:0060711",
    "recommended_name": {
        "id": "DOID:0060711",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060711",
        "name": "autosomal recessive congenital ichthyosis 3",
        "description": "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060711",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060711",
            "name": "ARCI3",
            "description": ""
        },
        {
            "id": "DOID:0060711",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060711",
            "name": "lamellar ichthyosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0011680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011680",
            "name": "autosomal recessive congenital ichthyosis 3",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene."
        },
        {
            "id": "MONDO:0011680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011680",
            "name": "ARCI3",
            "description": ""
        },
        {
            "id": "MONDO:0011680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011680",
            "name": "autosomal recessive congenital ichthyosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011680",
            "name": "ichthyosis, congenital, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011680",
            "name": "ichthyosis, congenital, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0011680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011680",
            "name": "ichthyosis, lamellar, 5",
            "description": ""
        },
        {
            "id": "MIM:606545",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606545",
            "name": "Ichthyosis, congenital, autosomal recessive 3",
            "description": "Ichthyosis, congenital, autosomal recessive 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060711"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060711",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060711",
            "categories": []
        },
        {
            "id": "MONDO:0011680",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011680",
            "categories": []
        },
        {
            "id": "MIM:606545",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606545",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0060711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060711"
                }
            ]
        },
        {
            "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": "0060711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WV07-1",
            "uniprot_ac": "Q9WV07",
            "uniprot_id": "LOXE3_MOUSE",
            "refseq_ac": "NP_035916",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroperoxide isomerase ALOXE3",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.4.4.7",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aloxe3",
                    "type": "recommended"
                },
                {
                    "name": "Aloxe3",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WV07-1",
            "evidence": [
                {
                    "id": "0060711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYJ1-1",
            "uniprot_ac": "Q9BYJ1",
            "uniprot_id": "LOXE3_HUMAN",
            "refseq_ac": "NP_001159432",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroperoxide isomerase ALOXE3",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.4.4.7",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal lipoxygenase-3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Lamellar ichthyosis 5",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal lipoxygenase",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALOXE3",
                    "type": "recommended"
                },
                {
                    "name": "ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "ARCI3",
                    "type": "synonym"
                },
                {
                    "name": "E-LOX",
                    "type": "synonym"
                },
                {
                    "name": "LI5",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYJ1-1",
            "evidence": [
                {
                    "id": "606545",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606545"
                },
                {
                    "id": "0060711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZKX9-1",
            "uniprot_ac": "D3ZKX9",
            "uniprot_id": "LOXE3_RAT",
            "refseq_ac": "NP_001099263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroperoxide isomerase ALOXE3",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.4.4.7",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aloxe3",
                    "type": "recommended"
                },
                {
                    "name": "Aloxe3",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZKX9-1",
            "evidence": [
                {
                    "id": "0060711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060711"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060711"
}