{
    "disease_id": "DOID:0050648",
    "recommended_name": {
        "id": "DOID:0050648",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050648",
        "name": "atelosteogenesis",
        "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns."
    },
    "synonyms": [
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis type I",
            "description": "A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings."
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "AO1",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "AOI",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "giant cell chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "spondylo-humero-femoral dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "name": "atelosteogenesis, type I",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis type III",
            "description": "A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings."
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "AO3",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "AOIII",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "name": "atelosteogenesis, type III",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis type II",
            "description": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene."
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "AO2",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "AOII",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis type II",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "neonatal osseous dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis II",
            "description": ""
        },
        {
            "id": "MONDO:0009727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "name": "atelosteogenesis, type II",
            "description": ""
        },
        {
            "id": "MIM:108720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108720",
            "name": "Atelosteogenesis 1",
            "description": "Atelosteogenesis 1"
        },
        {
            "id": "MIM:108721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108721",
            "name": "Atelosteogenesis 3",
            "description": "Atelosteogenesis 3"
        },
        {
            "id": "MIM:256050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256050",
            "name": "Atelosteogenesis 2",
            "description": "Atelosteogenesis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050648"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050648",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050648",
            "categories": []
        },
        {
            "id": "MONDO:0007167",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007167",
            "categories": []
        },
        {
            "id": "MONDO:0007168",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007168",
            "categories": []
        },
        {
            "id": "MONDO:0009727",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009727",
            "categories": []
        },
        {
            "id": "MIM:108720",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108720",
            "categories": []
        },
        {
            "id": "MIM:108721",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108721",
            "categories": []
        },
        {
            "id": "MIM:256050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256050",
            "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": "0009727",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009727"
                },
                {
                    "id": "256050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256050"
                },
                {
                    "id": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QGL5-1",
            "uniprot_ac": "F1QGL5",
            "uniprot_id": "F1QGL5_DANRE",
            "refseq_ac": "XP_021325608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flnbb",
                    "type": "recommended"
                },
                {
                    "name": "flnbb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QGL5-1",
            "evidence": [
                {
                    "id": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "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": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80X90-1",
            "uniprot_ac": "Q80X90",
            "uniprot_id": "FLNB_MOUSE",
            "refseq_ac": "NP_001074896",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 278",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform a",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnb",
                    "type": "recommended"
                },
                {
                    "name": "Fln-b",
                    "type": "synonym"
                },
                {
                    "name": "Flnb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80X90-1",
            "evidence": [
                {
                    "id": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "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": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75369-1",
            "uniprot_ac": "O75369",
            "uniprot_id": "FLNB_HUMAN",
            "refseq_ac": "NP_001157789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-B",
                    "type": "recommended"
                },
                {
                    "name": "ABP-278",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "Fh1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "Larsen syndrome 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Truncated ABP",
                    "type": "synonym"
                },
                {
                    "name": "Truncated actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 278",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "filamin B, beta",
                    "type": "synonym"
                },
                {
                    "name": "filamin homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid autoantigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLNB",
                    "type": "recommended"
                },
                {
                    "name": "ABP-278",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "FH1",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "FLN1L",
                    "type": "synonym"
                },
                {
                    "name": "FLN3",
                    "type": "synonym"
                },
                {
                    "name": "FLNB",
                    "type": "synonym"
                },
                {
                    "name": "LRS1",
                    "type": "synonym"
                },
                {
                    "name": "TABP",
                    "type": "synonym"
                },
                {
                    "name": "TAP",
                    "type": "synonym"
                }
            ],
            "record_id": "O75369-1",
            "evidence": [
                {
                    "id": "108720",
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                    "url": "https://www.omim.org/entry/108720"
                },
                {
                    "id": "108721",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108721"
                },
                {
                    "id": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "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": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JXT8-1",
            "uniprot_ac": "A0A0G2JXT8",
            "uniprot_id": "A0A0G2JXT8_RAT",
            "refseq_ac": "NP_001418475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin B",
                    "type": "synonym"
                },
                {
                    "name": "filamin B, beta",
                    "type": "synonym"
                },
                {
                    "name": "filamin, beta",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnb",
                    "type": "recommended"
                },
                {
                    "name": "Flnb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JXT8-1",
            "evidence": [
                {
                    "id": "0050648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050648"
                }
            ]
        },
        {
            "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",
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            ],
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                    "name": "SE",
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                    "name": "Squalene epoxidase",
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                {
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                {
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                {
                    "name": "cher-PK",
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                {
                    "name": "cherrio",
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                {
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                    "name": "filamin isoform B",
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                    "name": "Cher",
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                    "name": "Dmel\\CG3937",
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                    "name": "Dmel_CG3937",
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                    "name": "cheerio",
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                    "name": "dFil",
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                    "name": "joy",
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                {
                    "name": "Prestin",
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                    "name": "CG5845",
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                    "name": "Slc26a5",
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                    "name": "dpres",
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        }
    ],
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050648"
}