{
    "disease_id": "DOID:0070300",
    "recommended_name": {
        "id": "DOID:0070300",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070300",
        "name": "multiple epiphyseal dysplasia 4",
        "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "EDM4",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "MED4",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "Polyepiphyseal dysplasia type 4",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "multiple epiphyseal dysplasia with clubfoot",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "rMED",
            "description": ""
        },
        {
            "id": "DOID:0070300",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "name": "multiple epiphyseal dysplasia with bilateral patellae",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia type 4",
            "description": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum."
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "EDM4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "MED4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "Polyepiphyseal dysplasia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "Recessive Multiple Epiphyseal Dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "SLC26A2 multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "autosomal recessive multiple epiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "epiphyseal dysplasia, multiple, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "rMED",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "epiphyseal dysplasia multiple 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "epiphyseal dysplasia, multiple, 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia 4",
            "description": ""
        },
        {
            "id": "MONDO:0009189",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "name": "multiple epiphyseal dysplasia with double-layered patella",
            "description": ""
        },
        {
            "id": "MIM:226900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226900",
            "name": "Multiple epiphyseal dysplasia 4",
            "description": "Multiple epiphyseal dysplasia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070300"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070300",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070300",
            "categories": []
        },
        {
            "id": "MONDO:0009189",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009189",
            "categories": []
        },
        {
            "id": "MIM:226900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/226900",
            "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": "0009189",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009189"
                },
                {
                    "id": "226900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/226900"
                },
                {
                    "id": "0070300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070300"
                }
            ]
        },
        {
            "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": "0070300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070300"
                }
            ]
        },
        {
            "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": "0070300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070300"
                }
            ]
        },
        {
            "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": "0070300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070300"
                }
            ]
        },
        {
            "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": "0070300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070300"
                }
            ]
        },
        {
            "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": "0070300",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070300"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070300"
}