{
    "disease_id": "DOID:0080258",
    "recommended_name": {
        "id": "DOID:0080258",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080258",
        "name": "autosomal recessive congenital ichthyosis 14",
        "description": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "name": "ichthyosis, congenital, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MONDO:0033091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "name": "ichthyosis, congenital, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MONDO:0033091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "name": "ARCI14",
            "description": ""
        },
        {
            "id": "MIM:617571",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617571",
            "name": "Ichthyosis, congenital, autosomal recessive 14",
            "description": "Ichthyosis, congenital, autosomal recessive 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080258"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080258",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080258",
            "categories": []
        },
        {
            "id": "MONDO:0033091",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033091",
            "categories": []
        },
        {
            "id": "MIM:617571",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617571",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F734-1",
            "uniprot_ac": "E7F734",
            "uniprot_id": "E7F734_DANRE",
            "refseq_ac": "XP_005156055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase family 2, cytosolic sulfotransferase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sult2st1",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd1140",
                    "type": "synonym"
                },
                {
                    "name": "sult2st1",
                    "type": "synonym"
                },
                {
                    "name": "sult2st",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F734-1",
            "evidence": [
                {
                    "id": "0080258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35400-1",
            "uniprot_ac": "O35400",
            "uniprot_id": "ST2B1_MOUSE",
            "refseq_ac": "NP_059493",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase 2B1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroxysteroid sulfotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "ST2B1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfotransferase family cytosolic 2B member 1",
                    "type": "synonym"
                },
                {
                    "name": "alcohol sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid sulfotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 2B1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 2B1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sult2b1",
                    "type": "recommended"
                },
                {
                    "name": "ST2B1",
                    "type": "synonym"
                },
                {
                    "name": "SULT2B",
                    "type": "synonym"
                },
                {
                    "name": "Sult2b1",
                    "type": "synonym"
                },
                {
                    "name": "Sult2b",
                    "type": "synonym"
                }
            ],
            "record_id": "O35400-1",
            "evidence": [
                {
                    "id": "0080258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00204-1",
            "uniprot_ac": "O00204",
            "uniprot_id": "ST2B1_HUMAN",
            "refseq_ac": "NP_004596",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase 2B1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroxysteroid sulfotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "ST2B1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfotransferase family 2B member 1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfotransferase family cytosolic 2B member 1",
                    "type": "synonym"
                },
                {
                    "name": "alcohol sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid sulfotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid sulfotransferase SULT2B1a",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 2B1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 2B1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase family, cytosolic, 2B, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SULT2B1",
                    "type": "recommended"
                },
                {
                    "name": "ARCI14",
                    "type": "synonym"
                },
                {
                    "name": "HSST2",
                    "type": "synonym"
                },
                {
                    "name": "SULT2B1",
                    "type": "synonym"
                }
            ],
            "record_id": "O00204-1",
            "evidence": [
                {
                    "id": "617571",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617571"
                },
                {
                    "id": "0080258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q29YR5-1",
            "uniprot_ac": "Q29YR5",
            "uniprot_id": "ST2B1_RAT",
            "refseq_ac": "NP_001034754",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfotransferase 2B1",
                    "type": "recommended"
                },
                {
                    "name": "2.8.2.2",
                    "type": "synonym"
                },
                {
                    "name": "Alcohol sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroxysteroid sulfotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "ST2B1",
                    "type": "synonym"
                },
                {
                    "name": "Sulfotransferase family cytosolic 2B member 1",
                    "type": "synonym"
                },
                {
                    "name": "alcohol sulfotransferase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid sulfotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 2B1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase family, cytosolic, 2B, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sult2b1",
                    "type": "recommended"
                },
                {
                    "name": "ST2B1",
                    "type": "synonym"
                },
                {
                    "name": "Sult2b1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q29YR5-1",
            "evidence": [
                {
                    "id": "0080258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KF40-1",
            "uniprot_ac": "A0A0B4KF40",
            "uniprot_id": "A0A0B4KF40_DROME",
            "refseq_ac": "NP_001261155",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "CG44167-PC",
                    "type": "synonym"
                },
                {
                    "name": "St3-PC",
                    "type": "synonym"
                },
                {
                    "name": "Sulfotransferase 3, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 3, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "St3",
                    "type": "recommended"
                },
                {
                    "name": "CG11293",
                    "type": "synonym"
                },
                {
                    "name": "CG44167",
                    "type": "synonym"
                },
                {
                    "name": "CG5431",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44167",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44167",
                    "type": "synonym"
                },
                {
                    "name": "St3",
                    "type": "synonym"
                },
                {
                    "name": "dmST3",
                    "type": "synonym"
                },
                {
                    "name": "st3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KF40-1",
            "evidence": [
                {
                    "id": "0080258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1L8-1",
            "uniprot_ac": "Q9W1L8",
            "uniprot_id": "Q9W1L8_DROME",
            "refseq_ac": "NP_611815",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.8.2.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5428-PB",
                    "type": "synonym"
                },
                {
                    "name": "St1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Sulfotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "sulfotransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "St1",
                    "type": "recommended"
                },
                {
                    "name": "CG5428",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5428",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5428",
                    "type": "synonym"
                },
                {
                    "name": "St1",
                    "type": "synonym"
                },
                {
                    "name": "dmST1",
                    "type": "synonym"
                },
                {
                    "name": "st1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1L8-1",
            "evidence": [
                {
                    "id": "0080258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080258"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080258"
}