{
    "disease_id": "DOID:0111853",
    "recommended_name": {
        "id": "DOID:0111853",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111853",
        "name": "primary ciliary dyskinesia 40",
        "description": "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111853",
            "name": "CILD40",
            "description": ""
        },
        {
            "id": "DOID:0111853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111853",
            "name": "primary ciliary dyskinesia 40 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0032664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032664",
            "name": "ciliary dyskinesia, primary, 40",
            "description": ""
        },
        {
            "id": "MONDO:0032664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032664",
            "name": "CILD40",
            "description": ""
        },
        {
            "id": "MIM:618300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618300",
            "name": "Ciliary dyskinesia, primary, 40",
            "description": "Ciliary dyskinesia, primary, 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111853"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111853",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111853",
            "categories": []
        },
        {
            "id": "MONDO:0032664",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032664",
            "categories": []
        },
        {
            "id": "MIM:618300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A7H0-1",
            "uniprot_ac": "A0AB13A7H0",
            "uniprot_id": "A0AB13A7H0_DANRE",
            "refseq_ac": "NP_001353479",
            "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 17",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 17",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 17",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnah9",
                    "type": "recommended"
                },
                {
                    "name": "Lrdr",
                    "type": "synonym"
                },
                {
                    "name": "dnah9",
                    "type": "synonym"
                },
                {
                    "name": "dnahc11",
                    "type": "synonym"
                },
                {
                    "name": "fj30b09",
                    "type": "synonym"
                },
                {
                    "name": "lrdr1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj30b09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63607",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A7H0-1",
            "evidence": [
                {
                    "id": "0111853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1AR51-1",
            "uniprot_ac": "B1AR51",
            "uniprot_id": "B1AR51_MOUSE",
            "refseq_ac": "NP_001093103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein, axonemal, heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah9",
                    "type": "recommended"
                },
                {
                    "name": "9030022M04",
                    "type": "synonym"
                },
                {
                    "name": "A230091C01",
                    "type": "synonym"
                },
                {
                    "name": "C230051G16",
                    "type": "synonym"
                },
                {
                    "name": "D11Ertd686e",
                    "type": "synonym"
                },
                {
                    "name": "Dnah9",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc9",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0357",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AR51-1",
            "evidence": [
                {
                    "id": "0111853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYC9-1",
            "uniprot_ac": "Q9NYC9",
            "uniprot_id": "DYH9_HUMAN",
            "refseq_ac": "NP_001363",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "DNAH9 variant protein",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 9",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 9 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH9",
                    "type": "recommended"
                },
                {
                    "name": "CILD40",
                    "type": "synonym"
                },
                {
                    "name": "DNAH17L",
                    "type": "synonym"
                },
                {
                    "name": "DNAH9",
                    "type": "synonym"
                },
                {
                    "name": "DNEL1",
                    "type": "synonym"
                },
                {
                    "name": "DYH9",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc9",
                    "type": "synonym"
                },
                {
                    "name": "HL-20",
                    "type": "synonym"
                },
                {
                    "name": "HL20",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0357",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYC9-1",
            "evidence": [
                {
                    "id": "618300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618300"
                },
                {
                    "id": "0111853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A869-1",
            "uniprot_ac": "A0A8I6A869",
            "uniprot_id": "A0A8I6A869_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 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah9",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6A869-1",
            "evidence": [
                {
                    "id": "0111853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19024-1",
            "uniprot_ac": "P19024",
            "uniprot_id": "KCNA5_RAT",
            "refseq_ac": "NP_037104",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "Potassium (K+) channel protein alpha 5",
                    "type": "synonym"
                },
                {
                    "name": "RCK7",
                    "type": "synonym"
                },
                {
                    "name": "RK4",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker related subfamily A, member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, member 5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcna5",
                    "type": "recommended"
                },
                {
                    "name": "Kcna5",
                    "type": "synonym"
                },
                {
                    "name": "Kv1.5",
                    "type": "synonym"
                },
                {
                    "name": "Kv1",
                    "type": "synonym"
                }
            ],
            "record_id": "P19024-1",
            "evidence": [
                {
                    "id": "0111853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KI05-1",
            "uniprot_ac": "Q0KI05",
            "uniprot_id": "Q0KI05_DROME",
            "refseq_ac": "NP_001036762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3339-PC",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3339",
                    "type": "recommended"
                },
                {
                    "name": "CG3339",
                    "type": "synonym"
                },
                {
                    "name": "DHC5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3339",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3339",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KI05-1",
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                {
                    "id": "0111853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHJ4-1",
            "uniprot_ac": "A0A0B4KHJ4",
            "uniprot_id": "A0A0B4KHJ4_DROME",
            "refseq_ac": "NP_001262793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3723-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dhc93AB-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dynein heavy chain at 93AB, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain at 93AB, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "dynein-related heavy chain polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhc93AB",
                    "type": "recommended"
                },
                {
                    "name": "CG3723",
                    "type": "synonym"
                },
                {
                    "name": "DHC4C",
                    "type": "synonym"
                },
                {
                    "name": "DHC",
                    "type": "synonym"
                },
                {
                    "name": "Dhc 93AB",
                    "type": "synonym"
                },
                {
                    "name": "Dhc93AB",
                    "type": "synonym"
                },
                {
                    "name": "Dhc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3723",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3723",
                    "type": "synonym"
                },
                {
                    "name": "dhc93AB",
                    "type": "synonym"
                },
                {
                    "name": "dhc",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHJ4-1",
            "evidence": [
                {
                    "id": "0111853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111853"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111853"
}