{
    "disease_id": "DOID:0111856",
    "recommended_name": {
        "id": "DOID:0111856",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111856",
        "name": "primary ciliary dyskinesia 43",
        "description": "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111856",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111856",
            "name": "primary ciliary dyskinesia 43 with or without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0111856",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111856",
            "name": "CILD43",
            "description": ""
        },
        {
            "id": "MONDO:0032874",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032874",
            "name": "ciliary dyskinesia, primary, 43",
            "description": ""
        },
        {
            "id": "MONDO:0032874",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032874",
            "name": "CILD43",
            "description": ""
        },
        {
            "id": "MIM:618699",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618699",
            "name": "Ciliary dyskinesia, primary, 43",
            "description": "Ciliary dyskinesia, primary, 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111856"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111856",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111856",
            "categories": []
        },
        {
            "id": "MONDO:0032874",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032874",
            "categories": []
        },
        {
            "id": "MIM:618699",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618699",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R8Z9-1",
            "uniprot_ac": "F1R8Z9",
            "uniprot_id": "FXJ1B_DANRE",
            "refseq_ac": "NP_001008648",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein J1-B",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box protein J1-B",
                    "type": "synonym"
                },
                {
                    "name": "foxj1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxj1b",
                    "type": "recommended"
                },
                {
                    "name": "fj67h07",
                    "type": "synonym"
                },
                {
                    "name": "foxj1.2",
                    "type": "synonym"
                },
                {
                    "name": "foxj1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj67h07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101713",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R8Z9-1",
            "evidence": [
                {
                    "id": "0111856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QDF8-1",
            "uniprot_ac": "F1QDF8",
            "uniprot_id": "FXJ1A_DANRE",
            "refseq_ac": "NP_001070174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein J1-A",
                    "type": "recommended"
                },
                {
                    "name": "forkhead box protein J1-A",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box transcription factor J1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxj1a",
                    "type": "recommended"
                },
                {
                    "name": "foxj1a",
                    "type": "synonym"
                },
                {
                    "name": "foxj1",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5134",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153050",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QDF8-1",
            "evidence": [
                {
                    "id": "0111856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61660-1",
            "uniprot_ac": "Q61660",
            "uniprot_id": "FOXJ1_MOUSE",
            "refseq_ac": "NP_032266",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein J1",
                    "type": "recommended"
                },
                {
                    "name": "HFH-4",
                    "type": "synonym"
                },
                {
                    "name": "HNF-3/forkhead homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 3 forkhead homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein J1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL13",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 3 forkhead homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxj1",
                    "type": "recommended"
                },
                {
                    "name": "FKHL-13",
                    "type": "synonym"
                },
                {
                    "name": "Foxj1",
                    "type": "synonym"
                },
                {
                    "name": "HFH-4",
                    "type": "synonym"
                },
                {
                    "name": "Hfh4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61660-1",
            "evidence": [
                {
                    "id": "0111856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92949-1",
            "uniprot_ac": "Q92949",
            "uniprot_id": "FOXJ1_HUMAN",
            "refseq_ac": "NP_001445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein J1",
                    "type": "recommended"
                },
                {
                    "name": "Forkhead-related protein FKHL13",
                    "type": "synonym"
                },
                {
                    "name": "HFH-4",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 3 forkhead homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "fork head homologue 4",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein J1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead transcription factor HFH-4",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-like 13",
                    "type": "synonym"
                },
                {
                    "name": "forkhead-related protein FKHL13",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 3 forkhead homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXJ1",
                    "type": "recommended"
                },
                {
                    "name": "CILD43",
                    "type": "synonym"
                },
                {
                    "name": "FKHL13",
                    "type": "synonym"
                },
                {
                    "name": "FOXJ1",
                    "type": "synonym"
                },
                {
                    "name": "HFH-4",
                    "type": "synonym"
                },
                {
                    "name": "HFH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92949-1",
            "evidence": [
                {
                    "id": "618699",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618699"
                },
                {
                    "id": "0111856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25364-1",
            "uniprot_ac": "P25364",
            "uniprot_id": "HCM1_YEAST",
            "refseq_ac": "NP_009991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead transcription factor HCM1",
                    "type": "recommended"
                },
                {
                    "name": "Hcm1p",
                    "type": "synonym"
                },
                {
                    "name": "High-copy suppressor of calmodulin protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HCM1",
                    "type": "recommended"
                },
                {
                    "name": "HCM1",
                    "type": "synonym"
                },
                {
                    "name": "YCR65W",
                    "type": "synonym"
                },
                {
                    "name": "YCR902",
                    "type": "synonym"
                }
            ],
            "record_id": "P25364-1",
            "evidence": [
                {
                    "id": "0111856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111856"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63247-1",
            "uniprot_ac": "Q63247",
            "uniprot_id": "FOXJ1_RAT",
            "refseq_ac": "NP_446284",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein J1",
                    "type": "recommended"
                },
                {
                    "name": "HFH-4",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 3 forkhead homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein J1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 3 forkhead homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxj1",
                    "type": "recommended"
                },
                {
                    "name": "AABR07030823.1",
                    "type": "synonym"
                },
                {
                    "name": "Foxj1",
                    "type": "synonym"
                },
                {
                    "name": "Hfh-4",
                    "type": "synonym"
                },
                {
                    "name": "Hfh4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63247-1",
            "evidence": [
                {
                    "id": "0111856",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111856"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111856"
}