{
    "disease_id": "DOID:0110603",
    "recommended_name": {
        "id": "DOID:0110603",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110603",
        "name": "primary ciliary dyskinesia 32",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110603",
            "name": "CILD32",
            "description": ""
        },
        {
            "id": "DOID:0110603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110603",
            "name": "primary ciliary dyskinesia 32 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "name": "primary ciliary dyskinesia 32",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene."
        },
        {
            "id": "MONDO:0014657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "name": "CILD32",
            "description": ""
        },
        {
            "id": "MONDO:0014657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "name": "RSPH3 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "name": "ciliary dyskinesia, primary, type 32",
            "description": ""
        },
        {
            "id": "MONDO:0014657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "name": "primary ciliary dyskinesia caused by mutation in RSPH3",
            "description": ""
        },
        {
            "id": "MONDO:0014657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "name": "primary ciliary dyskinesia type 32",
            "description": ""
        },
        {
            "id": "MONDO:0014657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "name": "ciliary dyskinesia, primary, 32",
            "description": ""
        },
        {
            "id": "MIM:616481",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616481",
            "name": "Ciliary dyskinesia, primary, 32",
            "description": "Ciliary dyskinesia, primary, 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110603"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110603",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110603",
            "categories": []
        },
        {
            "id": "MONDO:0014657",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014657",
            "categories": []
        },
        {
            "id": "MIM:616481",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616481",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QPC4-1",
            "uniprot_ac": "F1QPC4",
            "uniprot_id": "F1QPC4_DANRE",
            "refseq_ac": "NP_001082864",
            "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 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "novel radial spoke domain containing protein",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spokehead-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rsph3",
                    "type": "recommended"
                },
                {
                    "name": "rshl2",
                    "type": "synonym"
                },
                {
                    "name": "rsph3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-122h15.2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QPC4-1",
            "evidence": [
                {
                    "id": "0110603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UFY4-1",
            "uniprot_ac": "Q3UFY4",
            "uniprot_id": "RSH3A_MOUSE",
            "refseq_ac": "NP_080065",
            "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 3 homolog A",
                    "type": "recommended"
                },
                {
                    "name": "A-kinase anchor protein RSPH3A",
                    "type": "synonym"
                },
                {
                    "name": "Radial spoke head-like protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 3 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head-like protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "radial spokehead-like 2A",
                    "type": "synonym"
                },
                {
                    "name": "radial spokehead-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph3a",
                    "type": "recommended"
                },
                {
                    "name": "1700012G05Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930524H12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rshl2a",
                    "type": "synonym"
                },
                {
                    "name": "Rshl2",
                    "type": "synonym"
                },
                {
                    "name": "Rsph3a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UFY4-1",
            "evidence": [
                {
                    "id": "0110603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DA80-1",
            "uniprot_ac": "Q9DA80",
            "uniprot_id": "RSH3B_MOUSE",
            "refseq_ac": "NP_001077414",
            "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 3 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "A-kinase anchor protein RSPH3B",
                    "type": "synonym"
                },
                {
                    "name": "Radial spoke head-like protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 3 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head-like protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "radial spokehead-like 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph3b",
                    "type": "recommended"
                },
                {
                    "name": "Rshl2b",
                    "type": "synonym"
                },
                {
                    "name": "Rshl2",
                    "type": "synonym"
                },
                {
                    "name": "Rsph3b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DA80-1",
            "evidence": [
                {
                    "id": "0110603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UC2-1",
            "uniprot_ac": "Q86UC2",
            "uniprot_id": "RSPH3_HUMAN",
            "refseq_ac": "NP_001333347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radial spoke head protein 3 homolog",
                    "type": "recommended"
                },
                {
                    "name": "A-kinase anchor protein RSPH3",
                    "type": "synonym"
                },
                {
                    "name": "Radial spoke head-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 3 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSPH3",
                    "type": "recommended"
                },
                {
                    "name": "CILD32",
                    "type": "synonym"
                },
                {
                    "name": "RSHL2",
                    "type": "synonym"
                },
                {
                    "name": "RSP3",
                    "type": "synonym"
                },
                {
                    "name": "RSPH3",
                    "type": "synonym"
                },
                {
                    "name": "dJ111C20.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UC2-1",
            "evidence": [
                {
                    "id": "616481",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616481"
                },
                {
                    "id": "0110603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LRY1-1",
            "uniprot_ac": "F1LRY1",
            "uniprot_id": "F1LRY1_RAT",
            "refseq_ac": "XP_006227972",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radial spoke head 3",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 3 homolog isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph3",
                    "type": "recommended"
                },
                {
                    "name": "Rshl2",
                    "type": "synonym"
                },
                {
                    "name": "Rsph3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LRY1-1",
            "evidence": [
                {
                    "id": "0110603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRY7-1",
            "uniprot_ac": "Q9VRY7",
            "uniprot_id": "Q9VRY7_DROME",
            "refseq_ac": "NP_648059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32392-PB",
                    "type": "synonym"
                },
                {
                    "name": "Radial spoke head protein 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rsph3-PB",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 3, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph3",
                    "type": "recommended"
                },
                {
                    "name": "CG10099",
                    "type": "synonym"
                },
                {
                    "name": "CG14912",
                    "type": "synonym"
                },
                {
                    "name": "CG32392",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32392",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32392",
                    "type": "synonym"
                },
                {
                    "name": "Rsph3",
                    "type": "synonym"
                },
                {
                    "name": "dRSPH3",
                    "type": "synonym"
                },
                {
                    "name": "rsp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRY7-1",
            "evidence": [
                {
                    "id": "0110603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110603"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110603"
}