{
    "disease_id": "DOID:0110085",
    "recommended_name": {
        "id": "DOID:0110085",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110085",
        "name": "asphyxiating thoracic dystrophy 1",
        "description": "An asphyxiating thoracic dystrophy associated with variation in the region 15q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110085",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110085",
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            "description": ""
        },
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            "id": "DOID:0110085",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110085",
            "name": "SRTD1",
            "description": ""
        },
        {
            "id": "DOID:0110085",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110085",
            "name": "short-rib thoracic dysplasia 1 with or without polydactyly",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008831",
            "name": "asphyxiating thoracic dystrophy 1",
            "description": "An asphyxiating thoracic dystrophy associated with variation in the region 15q13."
        },
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008831",
            "name": "ATD1",
            "description": ""
        },
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            "resource": "MONDO",
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            "description": ""
        },
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008831",
            "name": "asphyxiating thoracic dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0008831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008831",
            "name": "asphyxiating thoracic dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008831",
            "name": "short-rib thoracic dysplasia 1 with or without polydactyly",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110085"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110085",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110085",
            "categories": []
        },
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            "id": "MONDO:0008831",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008831",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M9PXA0",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "type": "recommended"
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                    "name": "ift140",
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            ],
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                }
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            "uniprot_ac": "E9PY46",
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                {
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                    "taxid": 10090,
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                    "reference_species": "Mus musculus [10090]"
                }
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                    "name": "WD and tetratricopeptide repeats protein 2",
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                    "name": "intraflagellar transport 140 homolog",
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                    "name": "intraflagellar transport protein 140 homolog isoform 1",
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                    "name": "intraflagellar transport protein 140 homolog",
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                    "name": "Ift140",
                    "type": "recommended"
                },
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                    "name": "Ift140",
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                    "name": "Tce5",
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                },
                {
                    "name": "WDTC2",
                    "type": "synonym"
                },
                {
                    "name": "Wdtc2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0590",
                    "type": "synonym"
                }
            ],
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                    "id": "0110085",
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                }
            ]
        },
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            "uniprot_canonical_ac": "F1LY69-1",
            "uniprot_ac": "F1LY69",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                {
                    "name": "Intraflagellar transport protein 140 homolog",
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                    "name": "intraflagellar transport protein 140 homolog",
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            ],
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                {
                    "name": "Ift140",
                    "type": "recommended"
                },
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                }
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                {
                    "id": "0110085",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KTZ4-1",
            "uniprot_ac": "Q7KTZ4",
            "uniprot_id": "Q7KTZ4_DROME",
            "refseq_ac": "NP_995608",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG11838-PB",
                    "type": "synonym"
                },
                {
                    "name": "Oseg3",
                    "type": "synonym"
                },
                {
                    "name": "Reduced mechanoreceptor potential A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "RempA",
                    "type": "synonym"
                },
                {
                    "name": "reduced mechanoreceptor potential A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "reduced mechanoreceptor potentials A",
                    "type": "synonym"
                },
                {
                    "name": "reduced mechanoreceptor potentials",
                    "type": "synonym"
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                {
                    "name": "rempA-PB",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "rempA",
                    "type": "recommended"
                },
                {
                    "name": "CG11838",
                    "type": "synonym"
                },
                {
                    "name": "CHE-11",
                    "type": "synonym"
                },
                {
                    "name": "Che-11",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11838",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11838",
                    "type": "synonym"
                },
                {
                    "name": "IFT140",
                    "type": "synonym"
                },
                {
                    "name": "IFT40",
                    "type": "synonym"
                },
                {
                    "name": "OSEG3",
                    "type": "synonym"
                },
                {
                    "name": "OSEG",
                    "type": "synonym"
                },
                {
                    "name": "Oseg3",
                    "type": "synonym"
                },
                {
                    "name": "REMPA",
                    "type": "synonym"
                },
                {
                    "name": "RempA",
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                },
                {
                    "name": "oseg3",
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                {
                    "name": "rempA",
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                {
                    "name": "remp",
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                }
            ],
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                    "id": "0110085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110085"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RY7-1",
            "uniprot_ac": "Q96RY7",
            "uniprot_id": "IF140_HUMAN",
            "refseq_ac": "NP_055529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Intraflagellar transport protein 140 homolog",
                    "type": "recommended"
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                {
                    "name": "WD and tetratricopeptide repeats protein 2",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 140 homolog",
                    "type": "synonym"
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                {
                    "name": "intraflagellar transport protein 140 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT140",
                    "type": "recommended"
                },
                {
                    "name": "CED5",
                    "type": "synonym"
                },
                {
                    "name": "IFT140",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0590",
                    "type": "synonym"
                },
                {
                    "name": "MZSDS",
                    "type": "synonym"
                },
                {
                    "name": "PKD9",
                    "type": "synonym"
                },
                {
                    "name": "RP80",
                    "type": "synonym"
                },
                {
                    "name": "SRTD9",
                    "type": "synonym"
                },
                {
                    "name": "WDTC2",
                    "type": "synonym"
                },
                {
                    "name": "c305C8.4",
                    "type": "synonym"
                },
                {
                    "name": "c380F5.1",
                    "type": "synonym"
                },
                {
                    "name": "gs114",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RY7-1",
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                    "id": "0110085",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110085"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110085"
}