{
    "disease_id": "DOID:0110594",
    "recommended_name": {
        "id": "DOID:0110594",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110594",
        "name": "primary ciliary dyskinesia 1",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110594",
            "name": "CILD1",
            "description": ""
        },
        {
            "id": "DOID:0110594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110594",
            "name": "primary ciliary dyskinesia 1 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "primary ciliary dyskinesia 1",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene."
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "CILD1",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "DNAI1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "ciliary dyskinesia, primary, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "primary ciliary dyskinesia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "primary ciliary dyskinesia caused by mutation in DNAI1",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "primary ciliary dyskinesia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "PCD",
            "description": ""
        },
        {
            "id": "MONDO:0009484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "name": "ciliary dyskinesia, primary, 1",
            "description": ""
        },
        {
            "id": "MIM:244400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/244400",
            "name": "Kartagener syndrome",
            "description": "Kartagener syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110594"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110594",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110594",
            "categories": []
        },
        {
            "id": "MONDO:0009484",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009484",
            "categories": []
        },
        {
            "id": "MIM:244400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/244400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C0M8-1",
            "uniprot_ac": "Q8C0M8",
            "uniprot_id": "DNAI1_MOUSE",
            "refseq_ac": "NP_780347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal intermediate chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein intermediate chain 1, axonemal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnai1",
                    "type": "recommended"
                },
                {
                    "name": "1110066F04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnai1",
                    "type": "synonym"
                },
                {
                    "name": "Dnaic1",
                    "type": "synonym"
                },
                {
                    "name": "b2b1526Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C0M8-1",
            "evidence": [
                {
                    "id": "0110594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI46-1",
            "uniprot_ac": "Q9UI46",
            "uniprot_id": "DNAI1_HUMAN",
            "refseq_ac": "NP_001268357",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, intermediate polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "immotile cilia syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 87P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAI1",
                    "type": "recommended"
                },
                {
                    "name": "CILD1",
                    "type": "synonym"
                },
                {
                    "name": "DIC1",
                    "type": "synonym"
                },
                {
                    "name": "DNAI1",
                    "type": "synonym"
                },
                {
                    "name": "ICS1",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                },
                {
                    "name": "oda6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI46-1",
            "evidence": [
                {
                    "id": "244400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/244400"
                },
                {
                    "id": "0110594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIL8-1",
            "uniprot_ac": "Q5XIL8",
            "uniprot_id": "DNAI1_RAT",
            "refseq_ac": "NP_001019513",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein intermediate chain 1, axonemal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnai1",
                    "type": "recommended"
                },
                {
                    "name": "Dnai1",
                    "type": "synonym"
                },
                {
                    "name": "Dnaic1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIL8-1",
            "evidence": [
                {
                    "id": "0110594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15387-1",
            "uniprot_ac": "P15387",
            "uniprot_id": "KCNB1_RAT",
            "refseq_ac": "NP_037318",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily B member 1",
                    "type": "recommended"
                },
                {
                    "name": "DRK1",
                    "type": "synonym"
                },
                {
                    "name": "Delayed rectifier potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "delayed rectifier potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shab-related subfamily B, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage gated channel, Shab-related subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily B member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnb1",
                    "type": "recommended"
                },
                {
                    "name": "DRK1PC",
                    "type": "synonym"
                },
                {
                    "name": "Kcnb1",
                    "type": "synonym"
                },
                {
                    "name": "Kcr1-1",
                    "type": "synonym"
                },
                {
                    "name": "Kv2.1",
                    "type": "synonym"
                },
                {
                    "name": "Shab",
                    "type": "synonym"
                }
            ],
            "record_id": "P15387-1",
            "evidence": [
                {
                    "id": "0110594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LG18-1",
            "uniprot_ac": "A0A0B4LG18",
            "uniprot_id": "A0A0B4LG18_DROME",
            "refseq_ac": "NP_001286657",
            "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 2, ciliary",
                    "type": "recommended"
                },
                {
                    "name": "CG9313-PB",
                    "type": "synonym"
                },
                {
                    "name": "dynein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9313",
                    "type": "recommended"
                },
                {
                    "name": "CG9313",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9313",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9313",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LG18-1",
            "evidence": [
                {
                    "id": "0110594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110594"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110594"
}