{
    "disease_id": "DOID:0080055",
    "recommended_name": {
        "id": "DOID:0080055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080055",
        "name": "achondrogenesis type IB",
        "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen."
    },
    "synonyms": [
        {
            "id": "DOID:0080055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080055",
            "name": "achondrogenesis Fraccaro type",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis type IB",
            "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage."
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis Ib",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis type IB",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis, Parenti-Fraccaro type",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "ACG1B",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "Fraccaro achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis, type IB",
            "description": ""
        },
        {
            "id": "MIM:600972",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600972",
            "name": "Achondrogenesis 1B",
            "description": "Achondrogenesis 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080055",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080055",
            "categories": []
        },
        {
            "id": "MONDO:0010966",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "categories": []
        },
        {
            "id": "MIM:600972",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600972",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P50443-1",
            "uniprot_ac": "P50443",
            "uniprot_id": "S26A2_HUMAN",
            "refseq_ac": "NP_000103",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfate transporter",
                    "type": "recommended"
                },
                {
                    "name": "Diastrophic dysplasia protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 2",
                    "type": "synonym"
                },
                {
                    "name": "diastrophic dysplasia protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (sulfate transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfate anion transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sulfate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC26A2",
                    "type": "recommended"
                },
                {
                    "name": "D5S1708",
                    "type": "synonym"
                },
                {
                    "name": "DTDST",
                    "type": "synonym"
                },
                {
                    "name": "DTD",
                    "type": "synonym"
                },
                {
                    "name": "EDM4",
                    "type": "synonym"
                },
                {
                    "name": "MST153",
                    "type": "synonym"
                },
                {
                    "name": "MSTP157",
                    "type": "synonym"
                },
                {
                    "name": "SLC26A2",
                    "type": "synonym"
                }
            ],
            "record_id": "P50443-1",
            "evidence": [
                {
                    "id": "1836",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/1836#disease"
                },
                {
                    "id": "0010966",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010966"
                },
                {
                    "id": "600972",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600972"
                },
                {
                    "id": "0080055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F9I7-1",
            "uniprot_ac": "E7F9I7",
            "uniprot_id": "E7F9I7_DANRE",
            "refseq_ac": "XP_005173217",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sulfate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc26a2",
                    "type": "recommended"
                },
                {
                    "name": "slc26a2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F9I7-1",
            "evidence": [
                {
                    "id": "0080055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62273-1",
            "uniprot_ac": "Q62273",
            "uniprot_id": "S26A2_MOUSE",
            "refseq_ac": "NP_031911",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfate transporter",
                    "type": "recommended"
                },
                {
                    "name": "Diastrophic dysplasia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ST-OB",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 2",
                    "type": "synonym"
                },
                {
                    "name": "diastrophic dysplasia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 member 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a2",
                    "type": "recommended"
                },
                {
                    "name": "Dtdst",
                    "type": "synonym"
                },
                {
                    "name": "Dtd",
                    "type": "synonym"
                },
                {
                    "name": "ST-OB",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62273-1",
            "evidence": [
                {
                    "id": "0080055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53394-1",
            "uniprot_ac": "P53394",
            "uniprot_id": "SULX_YEAST",
            "refseq_ac": "NP_015328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative sulfate transporter YPR003C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPZ3C",
                    "type": "synonym"
                },
                {
                    "name": "YP9723.03C",
                    "type": "synonym"
                }
            ],
            "record_id": "P53394-1",
            "evidence": [
                {
                    "id": "0080055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70531-1",
            "uniprot_ac": "O70531",
            "uniprot_id": "S26A2_RAT",
            "refseq_ac": "NP_476468",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfate transporter",
                    "type": "recommended"
                },
                {
                    "name": "Diastrophic dysplasia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 26 member 2",
                    "type": "synonym"
                },
                {
                    "name": "diastrophic dysplasia protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (sulfate transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a2",
                    "type": "recommended"
                },
                {
                    "name": "Dtdst",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a2",
                    "type": "synonym"
                }
            ],
            "record_id": "O70531-1",
            "evidence": [
                {
                    "id": "0080055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVM6-1",
            "uniprot_ac": "Q9VVM6",
            "uniprot_id": "Q9VVM6_DROME",
            "refseq_ac": "NP_649024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5485-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "CG5485",
                    "type": "synonym"
                },
                {
                    "name": "CG5845",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a5",
                    "type": "synonym"
                },
                {
                    "name": "dPrestin",
                    "type": "synonym"
                },
                {
                    "name": "dpres",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVM6-1",
            "evidence": [
                {
                    "id": "0080055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080055"
}