{
    "disease_id": "DOID:0110086",
    "recommended_name": {
        "id": "DOID:0110086",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110086",
        "name": "asphyxiating thoracic dystrophy 2",
        "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110086",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110086",
            "name": "short-rib thoracic dysplasia 2 with or without polydactyly",
            "description": ""
        },
        {
            "id": "DOID:0110086",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110086",
            "name": "ATD2",
            "description": ""
        },
        {
            "id": "DOID:0110086",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110086",
            "name": "SRTD2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "asphyxiating thoracic dystrophy 2",
            "description": "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene."
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "ATD2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "IFT80 Jeune syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "Jeune syndrome caused by mutation in IFT80",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "SRTD2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "asphyxiating thoracic dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "asphyxiating thoracic dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "name": "short-rib thoracic dysplasia 2 with or without polydactyly",
            "description": ""
        },
        {
            "id": "MIM:611263",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611263",
            "name": "Short-rib thoracic dysplasia 2 with or without polydactyly",
            "description": "Short-rib thoracic dysplasia 2 with or without polydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110086"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110086",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110086",
            "categories": []
        },
        {
            "id": "MONDO:0012644",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012644",
            "categories": []
        },
        {
            "id": "MIM:611263",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611263",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K057-1",
            "uniprot_ac": "Q8K057",
            "uniprot_id": "IFT80_MOUSE",
            "refseq_ac": "NP_080917",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 80 homolog",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 56",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 56",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 80 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 80 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift80",
                    "type": "recommended"
                },
                {
                    "name": "4921524P20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ift80",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1374",
                    "type": "synonym"
                },
                {
                    "name": "Wdr56",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1374",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K057-1",
            "evidence": [
                {
                    "id": "0110086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2H3-1",
            "uniprot_ac": "Q9P2H3",
            "uniprot_id": "IFT80_HUMAN",
            "refseq_ac": "NP_001177170",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 80 homolog",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 56",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 56",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 80 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 80 homolog isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT80",
                    "type": "recommended"
                },
                {
                    "name": "ATD2",
                    "type": "synonym"
                },
                {
                    "name": "CFAP167",
                    "type": "synonym"
                },
                {
                    "name": "FAP167",
                    "type": "synonym"
                },
                {
                    "name": "IFT80",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1374",
                    "type": "synonym"
                },
                {
                    "name": "SRTD2",
                    "type": "synonym"
                },
                {
                    "name": "WDR56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2H3-1",
            "evidence": [
                {
                    "id": "611263",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611263"
                },
                {
                    "id": "0110086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HB3-1",
            "uniprot_ac": "Q66HB3",
            "uniprot_id": "IFT80_RAT",
            "refseq_ac": "NP_001013933",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 80 homolog",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 56",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 56",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 80 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 80 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 80 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift80",
                    "type": "recommended"
                },
                {
                    "name": "Ift80",
                    "type": "synonym"
                },
                {
                    "name": "RGD1312006",
                    "type": "synonym"
                },
                {
                    "name": "Wdr56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HB3-1",
            "evidence": [
                {
                    "id": "0110086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110086"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VII8-1",
            "uniprot_ac": "Q9VII8",
            "uniprot_id": "Q9VII8_DROME",
            "refseq_ac": "NP_610064",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9333-PB",
                    "type": "synonym"
                },
                {
                    "name": "Oseg5-PB",
                    "type": "synonym"
                },
                {
                    "name": "Outer segment 5",
                    "type": "synonym"
                },
                {
                    "name": "outer segment 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oseg5",
                    "type": "recommended"
                },
                {
                    "name": "CG9333",
                    "type": "synonym"
                },
                {
                    "name": "CHE-2",
                    "type": "synonym"
                },
                {
                    "name": "Che-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9333",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9333",
                    "type": "synonym"
                },
                {
                    "name": "IFT80",
                    "type": "synonym"
                },
                {
                    "name": "OSEG5",
                    "type": "synonym"
                },
                {
                    "name": "OSEG",
                    "type": "synonym"
                },
                {
                    "name": "Oseg5",
                    "type": "synonym"
                },
                {
                    "name": "oseg5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VII8-1",
            "evidence": [
                {
                    "id": "0110086",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110086"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110086"
}