{
    "disease_id": "DOID:0110628",
    "recommended_name": {
        "id": "DOID:0110628",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110628",
        "name": "primary ciliary dyskinesia 24",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110628",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110628",
            "name": "primary ciliary dyskinesia 24 without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0110628",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110628",
            "name": "CILD24",
            "description": ""
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "primary ciliary dyskinesia 24",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene."
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "CILD24",
            "description": ""
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "RSPH1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "ciliary dyskinesia, primary, type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "primary ciliary dyskinesia 24",
            "description": ""
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "primary ciliary dyskinesia caused by mutation in RSPH1",
            "description": ""
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "primary ciliary dyskinesia type 24",
            "description": ""
        },
        {
            "id": "MONDO:0014202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "name": "ciliary dyskinesia, primary, 24",
            "description": ""
        },
        {
            "id": "MIM:615481",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615481",
            "name": "Ciliary dyskinesia, primary, 24",
            "description": "Ciliary dyskinesia, primary, 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110628"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110628",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110628",
            "categories": []
        },
        {
            "id": "MONDO:0014202",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014202",
            "categories": []
        },
        {
            "id": "MIM:615481",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615481",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7A0-1",
            "uniprot_ac": "A0ACD6B7A0",
            "uniprot_id": "A0ACD6B7A0_DANRE",
            "refseq_ac": "XP_021334546",
            "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 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "radial spoke head 1 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rsph1",
                    "type": "recommended"
                },
                {
                    "name": "rsph1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7A0-1",
            "evidence": [
                {
                    "id": "0110628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VIG3-1",
            "uniprot_ac": "Q8VIG3",
            "uniprot_id": "RSPH1_MOUSE",
            "refseq_ac": "NP_079566",
            "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 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Male meiotic metaphase chromosome-associated acidic protein",
                    "type": "synonym"
                },
                {
                    "name": "Meichroacidin",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific gene A2 protein",
                    "type": "synonym"
                },
                {
                    "name": "male meiotic metaphase chromosome-associated acidic protein",
                    "type": "synonym"
                },
                {
                    "name": "meichroacidin",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head 1 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific gene A2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph1",
                    "type": "recommended"
                },
                {
                    "name": "MCA",
                    "type": "synonym"
                },
                {
                    "name": "Rsph1",
                    "type": "synonym"
                },
                {
                    "name": "Tsga2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIG3-1",
            "evidence": [
                {
                    "id": "0110628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WYR4-1",
            "uniprot_ac": "Q8WYR4",
            "uniprot_id": "RSPH1_HUMAN",
            "refseq_ac": "NP_001273435",
            "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 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CT79",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 79",
                    "type": "synonym"
                },
                {
                    "name": "Male meiotic metaphase chromosome-associated acidic protein",
                    "type": "synonym"
                },
                {
                    "name": "Meichroacidin",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific gene A2 protein",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 79",
                    "type": "synonym"
                },
                {
                    "name": "male meiotic metaphase chromosome-associated acidic protein",
                    "type": "synonym"
                },
                {
                    "name": "meichroacidin",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head 1 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "testes specific gene A2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "testis specific A2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSPH1",
                    "type": "recommended"
                },
                {
                    "name": "CT79",
                    "type": "synonym"
                },
                {
                    "name": "RSP44",
                    "type": "synonym"
                },
                {
                    "name": "RSPH10A",
                    "type": "synonym"
                },
                {
                    "name": "RSPH1",
                    "type": "synonym"
                },
                {
                    "name": "TSA2",
                    "type": "synonym"
                },
                {
                    "name": "TSGA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WYR4-1",
            "evidence": [
                {
                    "id": "615481",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615481"
                },
                {
                    "id": "0110628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XFW9-1",
            "uniprot_ac": "Q5XFW9",
            "uniprot_id": "Q5XFW9_RAT",
            "refseq_ac": "NP_001012176",
            "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 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Male meiotic metaphase chromosome-associated acidic protein",
                    "type": "synonym"
                },
                {
                    "name": "Meichroacidin",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific gene A2 protein",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "testis specific gene A2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph1",
                    "type": "recommended"
                },
                {
                    "name": "Rsph1",
                    "type": "synonym"
                },
                {
                    "name": "Tsga2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XFW9-1",
            "evidence": [
                {
                    "id": "0110628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK29-1",
            "uniprot_ac": "Q9VK29",
            "uniprot_id": "Q9VK29_DROME",
            "refseq_ac": "NP_609609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5458-PA",
                    "type": "synonym"
                },
                {
                    "name": "Radial spoke head protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Rsph1-PA",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph1",
                    "type": "recommended"
                },
                {
                    "name": "CG5458",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5458",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5458",
                    "type": "synonym"
                },
                {
                    "name": "Rsph1",
                    "type": "synonym"
                },
                {
                    "name": "dRSPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK29-1",
            "evidence": [
                {
                    "id": "0110628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110628"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110628"
}