{
    "disease_id": "DOID:0110618",
    "recommended_name": {
        "id": "DOID:0110618",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110618",
        "name": "primary ciliary dyskinesia 13",
        "description": "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110618",
            "name": "CILD13",
            "description": ""
        },
        {
            "id": "DOID:0110618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110618",
            "name": "primary ciliary dyskinesia 13 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia 13",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene."
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "CILD13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "DNAAF1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "ciliary dyskinesia, primary, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia 13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia caused by mutation in DNAAF1",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "primary ciliary dyskinesia type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "name": "ciliary dyskinesia, primary, 13",
            "description": ""
        },
        {
            "id": "MIM:613193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613193",
            "name": "Ciliary dyskinesia, primary, 13",
            "description": "Ciliary dyskinesia, primary, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110618"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110618",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110618",
            "categories": []
        },
        {
            "id": "MONDO:0013174",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013174",
            "categories": []
        },
        {
            "id": "MIM:613193",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613193",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV84-1",
            "uniprot_ac": "Q7ZV84",
            "uniprot_id": "DAAF1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnaaf1",
                    "type": "recommended"
                },
                {
                    "name": "lrrc50",
                    "type": "synonym"
                },
                {
                    "name": "swt",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56169",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV84-1",
            "evidence": [
                {
                    "id": "0110618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110618"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D2H9-1",
            "uniprot_ac": "Q9D2H9",
            "uniprot_id": "DAAF1_MOUSE",
            "refseq_ac": "NP_080924",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 50",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 1, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf1",
                    "type": "recommended"
                },
                {
                    "name": "4930457P18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf1",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc50",
                    "type": "synonym"
                },
                {
                    "name": "m4Bei",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D2H9-1",
            "evidence": [
                {
                    "id": "0110618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110618"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEP3-1",
            "uniprot_ac": "Q8NEP3",
            "uniprot_id": "DAAF1_HUMAN",
            "refseq_ac": "NP_001305685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 50",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 1, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 50",
                    "type": "synonym"
                },
                {
                    "name": "outer row dynein assembly 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 110",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF1",
                    "type": "recommended"
                },
                {
                    "name": "CILD13",
                    "type": "synonym"
                },
                {
                    "name": "DAU1",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF1",
                    "type": "synonym"
                },
                {
                    "name": "LRRC50",
                    "type": "synonym"
                },
                {
                    "name": "ODA7",
                    "type": "synonym"
                },
                {
                    "name": "swt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEP3-1",
            "evidence": [
                {
                    "id": "613193",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613193"
                },
                {
                    "id": "0110618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110618"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYH9-1",
            "uniprot_ac": "Q6AYH9",
            "uniprot_id": "DAAF1_RAT",
            "refseq_ac": "NP_001014176",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 50",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 1, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 50",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf1",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf1",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc50",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310542",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYH9-1",
            "evidence": [
                {
                    "id": "0110618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110618"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INT5-1",
            "uniprot_ac": "Q8INT5",
            "uniprot_id": "DAAF1_DROME",
            "refseq_ac": "NP_724335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG31623-PA",
                    "type": "synonym"
                },
                {
                    "name": "Defective transmitter-recycling protein",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 50 homolog",
                    "type": "synonym"
                },
                {
                    "name": "defective transmitter release",
                    "type": "synonym"
                },
                {
                    "name": "dtr-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dtr",
                    "type": "recommended"
                },
                {
                    "name": "CG31623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31623",
                    "type": "synonym"
                },
                {
                    "name": "Dtr",
                    "type": "synonym"
                },
                {
                    "name": "dtr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INT5-1",
            "evidence": [
                {
                    "id": "0110618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110618"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110618"
}