{
    "disease_id": "DOID:0061226",
    "recommended_name": {
        "id": "DOID:0061226",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061226",
        "name": "primary ciliary dyskinesia 55",
        "description": "A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "DOID:0061226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061226",
            "name": "Azoospermia-sinopulmonary infections syndrome",
            "description": ""
        },
        {
            "id": "DOID:0061226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061226",
            "name": "Sinusitis-infertility syndrome",
            "description": ""
        },
        {
            "id": "DOID:0061226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061226",
            "name": "young syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010220",
            "name": "Young syndrome",
            "description": "Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections."
        },
        {
            "id": "MONDO:0010220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010220",
            "name": "azoospermia-sinopulmonary infections syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010220",
            "name": "young syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010220",
            "name": "Barry Perkins Young syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010220",
            "name": "azoospermia obstructive and chronic sinopulmonary infections",
            "description": ""
        },
        {
            "id": "MIM:279000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/279000",
            "name": "Ciliary dyskinesia, primary, 55",
            "description": "Ciliary dyskinesia, primary, 55"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061226"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061226",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061226",
            "categories": []
        },
        {
            "id": "MONDO:0010220",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010220",
            "categories": []
        },
        {
            "id": "MIM:279000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/279000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RQR0-1",
            "uniprot_ac": "A0A8M1RQR0",
            "uniprot_id": "A0A8M1RQR0_DANRE",
            "refseq_ac": "XP_002660420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 221",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 221",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap221",
                    "type": "recommended"
                },
                {
                    "name": "cfap221",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RQR0-1",
            "evidence": [
                {
                    "id": "0061226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A9Q751-1",
            "uniprot_ac": "A9Q751",
            "uniprot_id": "PCDP1_MOUSE",
            "refseq_ac": "NP_001108546",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 221",
                    "type": "recommended"
                },
                {
                    "name": "Primary ciliary dyskinesia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 221",
                    "type": "synonym"
                },
                {
                    "name": "primary ciliary dyskinesia protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap221",
                    "type": "recommended"
                },
                {
                    "name": "Cfap221",
                    "type": "synonym"
                },
                {
                    "name": "Gm101",
                    "type": "synonym"
                },
                {
                    "name": "Pcdp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A9Q751-1",
            "evidence": [
                {
                    "id": "0061226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G0U5-1",
            "uniprot_ac": "Q4G0U5",
            "uniprot_id": "PCDP1_HUMAN",
            "refseq_ac": "NP_001257978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 221",
                    "type": "recommended"
                },
                {
                    "name": "Primary ciliary dyskinesia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 221",
                    "type": "synonym"
                },
                {
                    "name": "flagellar associated protein 221 homolog",
                    "type": "synonym"
                },
                {
                    "name": "primary ciliary dyskinesia 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "primary ciliary dyskinesia protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP221",
                    "type": "recommended"
                },
                {
                    "name": "CFAP221",
                    "type": "synonym"
                },
                {
                    "name": "CILD55",
                    "type": "synonym"
                },
                {
                    "name": "FAP221",
                    "type": "synonym"
                },
                {
                    "name": "PCDP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G0U5-1",
            "evidence": [
                {
                    "id": "279000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/279000"
                },
                {
                    "id": "0061226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K0U0-1",
            "uniprot_ac": "A0A0G2K0U0",
            "uniprot_id": "A0A0G2K0U0_RAT",
            "refseq_ac": "NP_001416544",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia and flagella associated protein 221",
                    "type": "synonym"
                },
                {
                    "name": "cilia and flagella associated protein 221",
                    "type": "synonym"
                },
                {
                    "name": "primary ciliary dyskinesia protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap221",
                    "type": "recommended"
                },
                {
                    "name": "Cfap221",
                    "type": "synonym"
                },
                {
                    "name": "Pcdp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K0U0-1",
            "evidence": [
                {
                    "id": "0061226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061226"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061226"
}