{
    "disease_id": "DOID:0110602",
    "recommended_name": {
        "id": "DOID:0110602",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110602",
        "name": "primary ciliary dyskinesia 11",
        "description": "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110602",
            "name": "CILD11",
            "description": ""
        },
        {
            "id": "DOID:0110602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110602",
            "name": "primary ciliary dyskinesia 11 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "primary ciliary dyskinesia 11",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene."
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "CILD11",
            "description": ""
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "RSPH4A primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "ciliary dyskinesia, primary, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "primary ciliary dyskinesia 11",
            "description": ""
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "primary ciliary dyskinesia caused by mutation in RSPH4A",
            "description": ""
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "primary ciliary dyskinesia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0012978",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "name": "ciliary dyskinesia, primary, 11",
            "description": ""
        },
        {
            "id": "MIM:612649",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612649",
            "name": "Ciliary dyskinesia, primary, 11",
            "description": "Ciliary dyskinesia, primary, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110602"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110602",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110602",
            "categories": []
        },
        {
            "id": "MONDO:0012978",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012978",
            "categories": []
        },
        {
            "id": "MIM:612649",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612649",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1QHY3-1",
            "uniprot_ac": "A0A8M1QHY3",
            "uniprot_id": "A0A8M1QHY3_DANRE",
            "refseq_ac": "XP_001923770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radial spoke head protein 4 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 4 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rsph4a",
                    "type": "recommended"
                },
                {
                    "name": "rsph4a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1QHY3-1",
            "evidence": [
                {
                    "id": "0110602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BYM7-1",
            "uniprot_ac": "Q8BYM7",
            "uniprot_id": "RSH4A_MOUSE",
            "refseq_ac": "NP_001156429",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radial spoke head protein 4 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Radial spoke head-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 4 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "radial spokehead-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph4a",
                    "type": "recommended"
                },
                {
                    "name": "A230081C05",
                    "type": "synonym"
                },
                {
                    "name": "Rshl3",
                    "type": "synonym"
                },
                {
                    "name": "Rsph4a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYM7-1",
            "evidence": [
                {
                    "id": "0110602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TD94-1",
            "uniprot_ac": "Q5TD94",
            "uniprot_id": "RSH4A_HUMAN",
            "refseq_ac": "NP_001010892",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radial spoke head protein 4 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "Radial spoke head-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head 4 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 4 homolog A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 4 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "radial spokehead-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSPH4A",
                    "type": "recommended"
                },
                {
                    "name": "CILD11",
                    "type": "synonym"
                },
                {
                    "name": "RSHL3",
                    "type": "synonym"
                },
                {
                    "name": "RSPH4A",
                    "type": "synonym"
                },
                {
                    "name": "RSPH6B",
                    "type": "synonym"
                },
                {
                    "name": "dJ412I7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TD94-1",
            "evidence": [
                {
                    "id": "612649",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612649"
                },
                {
                    "id": "0110602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8S8-1",
            "uniprot_ac": "D4A8S8",
            "uniprot_id": "D4A8S8_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": "Radial spoke head component 4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph4a",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A8S8-1",
            "evidence": [
                {
                    "id": "0110602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1D3-1",
            "uniprot_ac": "Q9W1D3",
            "uniprot_id": "Q9W1D3_DROME",
            "refseq_ac": "NP_611869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3121-PA",
                    "type": "synonym"
                },
                {
                    "name": "Radial spoke head protein 4a",
                    "type": "synonym"
                },
                {
                    "name": "Rsph4a-PA",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph4a",
                    "type": "recommended"
                },
                {
                    "name": "CG3121",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3121",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3121",
                    "type": "synonym"
                },
                {
                    "name": "Rsph4a",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.109",
                    "type": "synonym"
                },
                {
                    "name": "dRSPH4a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1D3-1",
            "evidence": [
                {
                    "id": "0110602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110602"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110602"
}