{
    "disease_id": "DOID:0110601",
    "recommended_name": {
        "id": "DOID:0110601",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110601",
        "name": "primary ciliary dyskinesia 12",
        "description": "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110601",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110601",
            "name": "CILD12",
            "description": ""
        },
        {
            "id": "DOID:0110601",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110601",
            "name": "primary ciliary dyskinesia 12 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0012979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "name": "primary ciliary dyskinesia 12",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene."
        },
        {
            "id": "MONDO:0012979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "name": "CILD12",
            "description": ""
        },
        {
            "id": "MONDO:0012979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "name": "RSPH9 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "name": "ciliary dyskinesia, primary, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "name": "primary ciliary dyskinesia caused by mutation in RSPH9",
            "description": ""
        },
        {
            "id": "MONDO:0012979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "name": "primary ciliary dyskinesia type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "name": "ciliary dyskinesia, primary, 12",
            "description": ""
        },
        {
            "id": "MIM:612650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612650",
            "name": "Ciliary dyskinesia, primary, 12",
            "description": "Ciliary dyskinesia, primary, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110601"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110601",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110601",
            "categories": []
        },
        {
            "id": "MONDO:0012979",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012979",
            "categories": []
        },
        {
            "id": "MIM:612650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5TYW6-1",
            "uniprot_ac": "Q5TYW6",
            "uniprot_id": "RSPH9_DANRE",
            "refseq_ac": "NP_001025284",
            "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 9 homolog",
                    "type": "recommended"
                },
                {
                    "name": "radial spoke head 9 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 9 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rsph9",
                    "type": "recommended"
                },
                {
                    "name": "rsph9",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-117l16.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123211",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TYW6-1",
            "evidence": [
                {
                    "id": "0110601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D9V4-1",
            "uniprot_ac": "Q9D9V4",
            "uniprot_id": "RSPH9_MOUSE",
            "refseq_ac": "NP_083614",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radial spoke head protein 9 homolog",
                    "type": "recommended"
                },
                {
                    "name": "radial spoke head protein 9 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph9",
                    "type": "recommended"
                },
                {
                    "name": "1700027N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rsph9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D9V4-1",
            "evidence": [
                {
                    "id": "0110601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H1X1-1",
            "uniprot_ac": "Q9H1X1",
            "uniprot_id": "RSPH9_HUMAN",
            "refseq_ac": "NP_001180270",
            "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 9 homolog",
                    "type": "recommended"
                },
                {
                    "name": "radial spoke head 9 homolog",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 9 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "radial spoke head protein 9 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSPH9",
                    "type": "recommended"
                },
                {
                    "name": "C6orf206",
                    "type": "synonym"
                },
                {
                    "name": "CILD12",
                    "type": "synonym"
                },
                {
                    "name": "MRPS18AL1",
                    "type": "synonym"
                },
                {
                    "name": "RSPH9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H1X1-1",
            "evidence": [
                {
                    "id": "612650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612650"
                },
                {
                    "id": "0110601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110601"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KAI9-1",
            "uniprot_ac": "A0A0G2KAI9",
            "uniprot_id": "A0A0G2KAI9_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 protein 9 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Rsph9",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2KAI9-1",
            "evidence": [
                {
                    "id": "0110601",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110601"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110601"
}