{
    "disease_id": "DOID:0110599",
    "recommended_name": {
        "id": "DOID:0110599",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110599",
        "name": "primary ciliary dyskinesia 3",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110599",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110599",
            "name": "CILD3",
            "description": ""
        },
        {
            "id": "DOID:0110599",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110599",
            "name": "primary ciliary dyskinesia 3 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "primary ciliary dyskinesia 3",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene."
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "CILD3",
            "description": ""
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "DNAH5 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "ciliary dyskinesia, primary, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "primary ciliary dyskinesia 3",
            "description": ""
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "primary ciliary dyskinesia caused by mutation in DNAH5",
            "description": ""
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "primary ciliary dyskinesia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "name": "ciliary dyskinesia, primary, 3",
            "description": ""
        },
        {
            "id": "MIM:608644",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608644",
            "name": "Ciliary dyskinesia, primary, 3",
            "description": "Ciliary dyskinesia, primary, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110599"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110599",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110599",
            "categories": []
        },
        {
            "id": "MONDO:0012085",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012085",
            "categories": []
        },
        {
            "id": "MIM:608644",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608644",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HIQ6-1",
            "uniprot_ac": "A0AC58HIQ6",
            "uniprot_id": "A0AC58HIQ6_DANRE",
            "refseq_ac": "XP_073781887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnah5",
                    "type": "recommended"
                },
                {
                    "name": "dnah5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HIQ6-1",
            "evidence": [
                {
                    "id": "0110599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHE6-1",
            "uniprot_ac": "Q8VHE6",
            "uniprot_id": "DYH5_MOUSE",
            "refseq_ac": "NP_579943",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 5",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 5, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axon, heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "mDNAH5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah5",
                    "type": "recommended"
                },
                {
                    "name": "Dnah5",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc5",
                    "type": "synonym"
                },
                {
                    "name": "Mdnah5",
                    "type": "synonym"
                },
                {
                    "name": "b2b1134Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1154Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1537Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1565Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b3491Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b601Clo",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1603",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHE6-1",
            "evidence": [
                {
                    "id": "0110599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TE73-1",
            "uniprot_ac": "Q8TE73",
            "uniprot_id": "DYH5_HUMAN",
            "refseq_ac": "NP_001360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 5",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 5, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH5",
                    "type": "recommended"
                },
                {
                    "name": "CILD3",
                    "type": "synonym"
                },
                {
                    "name": "DNAH5",
                    "type": "synonym"
                },
                {
                    "name": "DNAHC5",
                    "type": "synonym"
                },
                {
                    "name": "HL1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1603",
                    "type": "synonym"
                },
                {
                    "name": "KTGNR",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TE73-1",
            "evidence": [
                {
                    "id": "608644",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608644"
                },
                {
                    "id": "0110599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R8U1-1",
            "uniprot_ac": "M0R8U1",
            "uniprot_id": "DYH5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 5",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah5",
                    "type": "recommended"
                }
            ],
            "record_id": "M0R8U1-1",
            "evidence": [
                {
                    "id": "0110599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63142-1",
            "uniprot_ac": "P63142",
            "uniprot_id": "KCNA2_RAT",
            "refseq_ac": "NP_037102",
            "glycoprotein": "yes",
            "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 A member 2",
                    "type": "recommended"
                },
                {
                    "name": "Potassium (K+) channel protein alpha 2, voltage dependent",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage gated channel shaker related subfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "RAK",
                    "type": "synonym"
                },
                {
                    "name": "RBK2",
                    "type": "synonym"
                },
                {
                    "name": "RCK5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker related subfamily A, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcna2",
                    "type": "recommended"
                },
                {
                    "name": "BK2",
                    "type": "synonym"
                },
                {
                    "name": "Kcna2",
                    "type": "synonym"
                },
                {
                    "name": "NGK1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63142-1",
            "evidence": [
                {
                    "id": "0110599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LH20-1",
            "uniprot_ac": "A0A0B4LH20",
            "uniprot_id": "A0A0B4LH20_DROME",
            "refseq_ac": "NP_001287256",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9492-PG",
                    "type": "synonym"
                },
                {
                    "name": "Dhc1-PG",
                    "type": "synonym"
                },
                {
                    "name": "Dynein heavy chain 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 1, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhc1",
                    "type": "recommended"
                },
                {
                    "name": "CG9492",
                    "type": "synonym"
                },
                {
                    "name": "DHC3B",
                    "type": "synonym"
                },
                {
                    "name": "Dhc1",
                    "type": "synonym"
                },
                {
                    "name": "DmDhc1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9492",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9492",
                    "type": "synonym"
                },
                {
                    "name": "Dnah5",
                    "type": "synonym"
                },
                {
                    "name": "dnah5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LH20-1",
            "evidence": [
                {
                    "id": "0110599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110599"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110599"
}