{
    "disease_id": "DOID:0110608",
    "recommended_name": {
        "id": "DOID:0110608",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110608",
        "name": "primary ciliary dyskinesia 19",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110608",
            "name": "CILD19",
            "description": ""
        },
        {
            "id": "DOID:0110608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110608",
            "name": "primary ciliary dyskinesia 19 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "primary ciliary dyskinesia 19",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene."
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "CILD19",
            "description": ""
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "LRRC6 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "ciliary dyskinesia, primary, type 19",
            "description": ""
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "primary ciliary dyskinesia 19",
            "description": ""
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "primary ciliary dyskinesia caused by mutation in LRRC6",
            "description": ""
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "primary ciliary dyskinesia type 19",
            "description": ""
        },
        {
            "id": "MONDO:0013979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "name": "ciliary dyskinesia, primary, 19",
            "description": ""
        },
        {
            "id": "MIM:614935",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614935",
            "name": "Ciliary dyskinesia, primary, 19",
            "description": "Ciliary dyskinesia, primary, 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110608"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110608",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110608",
            "categories": []
        },
        {
            "id": "MONDO:0013979",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013979",
            "categories": []
        },
        {
            "id": "MIM:614935",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614935",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B3DH20-1",
            "uniprot_ac": "B3DH20",
            "uniprot_id": "DAA11_DANRE",
            "refseq_ac": "NP_001002311",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "DNAAF11",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing 6-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Protein tilB homolog",
                    "type": "synonym"
                },
                {
                    "name": "Seahorse",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 11",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 6",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing 6 like",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing 6-like protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "protein TILB homolog",
                    "type": "synonym"
                },
                {
                    "name": "seahorse",
                    "type": "synonym"
                },
                {
                    "name": "unm tg238a",
                    "type": "synonym"
                },
                {
                    "name": "zar",
                    "type": "synonym"
                },
                {
                    "name": "zator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnaaf11",
                    "type": "recommended"
                },
                {
                    "name": "dnaaf11",
                    "type": "synonym"
                },
                {
                    "name": "lrrc6l",
                    "type": "synonym"
                },
                {
                    "name": "lrrc6",
                    "type": "synonym"
                }
            ],
            "record_id": "B3DH20-1",
            "evidence": [
                {
                    "id": "0110608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88978-1",
            "uniprot_ac": "O88978",
            "uniprot_id": "DAA11_MOUSE",
            "refseq_ac": "NP_062330",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 11",
                    "type": "recommended"
                },
                {
                    "name": "DNAAF11",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich testis-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein tilB homolog",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific leucine-rich repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 11",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 6 (testis)",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich testis-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "protein TILB homolog",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific leucine-rich repeat protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf11",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf11",
                    "type": "synonym"
                },
                {
                    "name": "LRTP",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc6",
                    "type": "synonym"
                },
                {
                    "name": "Lrtp",
                    "type": "synonym"
                },
                {
                    "name": "Mc2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88978-1",
            "evidence": [
                {
                    "id": "0110608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86X45-1",
            "uniprot_ac": "Q86X45",
            "uniprot_id": "DAA11_HUMAN",
            "refseq_ac": "NP_001308890",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "DNAAF11",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich testis-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein tilB homolog",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific leucine-rich repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 11 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 6",
                    "type": "synonym"
                },
                {
                    "name": "protein TILB homolog",
                    "type": "synonym"
                },
                {
                    "name": "seahorse",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific leucine-rich repeat protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF11",
                    "type": "recommended"
                },
                {
                    "name": "CILD19",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF11",
                    "type": "synonym"
                },
                {
                    "name": "LRRC6",
                    "type": "synonym"
                },
                {
                    "name": "LRTP",
                    "type": "synonym"
                },
                {
                    "name": "TSLRP",
                    "type": "synonym"
                },
                {
                    "name": "tilB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86X45-1",
            "evidence": [
                {
                    "id": "614935",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614935"
                },
                {
                    "id": "0110608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LV49-1",
            "uniprot_ac": "A0ABK0LV49",
            "uniprot_id": "A0ABK0LV49_RAT",
            "refseq_ac": "XP_038934705",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "dynein axonemal assembly factor 11 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf11",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf11",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc6",
                    "type": "synonym"
                },
                {
                    "name": "Lrtp",
                    "type": "synonym"
                },
                {
                    "name": "Tslrp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LV49-1",
            "evidence": [
                {
                    "id": "0110608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR52-1",
            "uniprot_ac": "Q9VR52",
            "uniprot_id": "TILB_DROME",
            "refseq_ac": "NP_608460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein tilB",
                    "type": "recommended"
                },
                {
                    "name": "CG14620-PA",
                    "type": "synonym"
                },
                {
                    "name": "TilB",
                    "type": "synonym"
                },
                {
                    "name": "Touch insensitive larva B protein",
                    "type": "synonym"
                },
                {
                    "name": "tilB-PA",
                    "type": "synonym"
                },
                {
                    "name": "touch insensitive larva B",
                    "type": "synonym"
                },
                {
                    "name": "touch insensitive larvaeB",
                    "type": "synonym"
                },
                {
                    "name": "touch-insensitive-larva-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tilB",
                    "type": "recommended"
                },
                {
                    "name": "CG14620",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14620",
                    "type": "synonym"
                },
                {
                    "name": "TilB",
                    "type": "synonym"
                },
                {
                    "name": "tilB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR52-1",
            "evidence": [
                {
                    "id": "0110608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110608"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110608"
}