{
    "disease_id": "DOID:0110622",
    "recommended_name": {
        "id": "DOID:0110622",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110622",
        "name": "primary ciliary dyskinesia 9",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110622",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110622",
            "name": "CILD9",
            "description": ""
        },
        {
            "id": "DOID:0110622",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110622",
            "name": "primary ciliary dyskinesia 9 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "primary ciliary dyskinesia 9",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene."
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "CILD9",
            "description": ""
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "DNAI2 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "ciliary dyskinesia, primary, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "primary ciliary dyskinesia 9",
            "description": ""
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "primary ciliary dyskinesia caused by mutation in DNAI2",
            "description": ""
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "primary ciliary dyskinesia type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "name": "ciliary dyskinesia, primary, 9",
            "description": ""
        },
        {
            "id": "MIM:612444",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612444",
            "name": "Ciliary dyskinesia, primary, 9",
            "description": "Ciliary dyskinesia, primary, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110622"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110622",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110622",
            "categories": []
        },
        {
            "id": "MONDO:0012906",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012906",
            "categories": []
        },
        {
            "id": "MIM:612444",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612444",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B2H1-1",
            "uniprot_ac": "A0A8M2B2H1",
            "uniprot_id": "A0A8M2B2H1_DANRE",
            "refseq_ac": "XP_005156459",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnai2b",
                    "type": "recommended"
                },
                {
                    "name": "dnai2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B2H1-1",
            "evidence": [
                {
                    "id": "0110622",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110622"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AC93-1",
            "uniprot_ac": "A2AC93",
            "uniprot_id": "DNAI2_MOUSE",
            "refseq_ac": "NP_001030050",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal intermediate chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal dynein intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein intermediate chain 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, intermediate polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnai2",
                    "type": "recommended"
                },
                {
                    "name": "C030015H18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnai2",
                    "type": "synonym"
                },
                {
                    "name": "Dnaic2",
                    "type": "synonym"
                },
                {
                    "name": "Gm728",
                    "type": "synonym"
                },
                {
                    "name": "b2b3405Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AC93-1",
            "evidence": [
                {
                    "id": "0110622",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110622"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZS0-1",
            "uniprot_ac": "Q9GZS0",
            "uniprot_id": "DNAI2_HUMAN",
            "refseq_ac": "NP_001166281",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal intermediate chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal dynein intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, intermediate polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAI2",
                    "type": "recommended"
                },
                {
                    "name": "CILD9",
                    "type": "synonym"
                },
                {
                    "name": "DIC2",
                    "type": "synonym"
                },
                {
                    "name": "DNAI2",
                    "type": "synonym"
                },
                {
                    "name": "oda6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZS0-1",
            "evidence": [
                {
                    "id": "612444",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612444"
                },
                {
                    "id": "0110622",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110622"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HC9-1",
            "uniprot_ac": "Q66HC9",
            "uniprot_id": "DNAI2_RAT",
            "refseq_ac": "NP_001007727",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal intermediate chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal dynein intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein intermediate chain 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, intermediate polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnai2",
                    "type": "recommended"
                },
                {
                    "name": "Dnai2",
                    "type": "synonym"
                },
                {
                    "name": "Dnaic2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HC9-1",
            "evidence": [
                {
                    "id": "0110622",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110622"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3L0-1",
            "uniprot_ac": "Q9W3L0",
            "uniprot_id": "Q9W3L0_DROME",
            "refseq_ac": "NP_572435",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein intermediate chain 3, ciliary",
                    "type": "recommended"
                },
                {
                    "name": "CG1571-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1571",
                    "type": "recommended"
                },
                {
                    "name": "CG1571",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1571",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1571",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3L0-1",
            "evidence": [
                {
                    "id": "0110622",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110622"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PC80-1",
            "uniprot_ac": "M9PC80",
            "uniprot_id": "M9PC80_DROME",
            "refseq_ac": "NP_001261723",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6053-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dnai2-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dynein, axonemal, intermediate chain 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, intermediate chain 2, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnai2",
                    "type": "recommended"
                },
                {
                    "name": "CG6053",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6053",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6053",
                    "type": "synonym"
                },
                {
                    "name": "Dnai2",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PC80-1",
            "evidence": [
                {
                    "id": "0110622",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110622"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJY4-1",
            "uniprot_ac": "Q9VJY4",
            "uniprot_id": "Q9VJY4_DROME",
            "refseq_ac": "NP_001285898",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein intermediate chain 3, ciliary",
                    "type": "recommended"
                },
                {
                    "name": "CG10859-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10859",
                    "type": "recommended"
                },
                {
                    "name": "CG10859",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10859",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10859",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJY4-1",
            "evidence": [
                {
                    "id": "0110622",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110622"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110622"
}