{
    "disease_id": "DOID:0110613",
    "recommended_name": {
        "id": "DOID:0110613",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110613",
        "name": "primary ciliary dyskinesia 16",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110613",
            "name": "primary ciliary dyskinesia 16 with or without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0110613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110613",
            "name": "CILD16",
            "description": ""
        },
        {
            "id": "MONDO:0013525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "name": "primary ciliary dyskinesia 16",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene."
        },
        {
            "id": "MONDO:0013525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "name": "CILD16",
            "description": ""
        },
        {
            "id": "MONDO:0013525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "name": "DNAL1 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "name": "ciliary dyskinesia, primary, type 16",
            "description": ""
        },
        {
            "id": "MONDO:0013525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "name": "primary ciliary dyskinesia caused by mutation in DNAL1",
            "description": ""
        },
        {
            "id": "MONDO:0013525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "name": "primary ciliary dyskinesia type 16",
            "description": ""
        },
        {
            "id": "MONDO:0013525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "name": "ciliary dyskinesia, primary, 16",
            "description": ""
        },
        {
            "id": "MIM:614017",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614017",
            "name": "Ciliary dyskinesia, primary, 16",
            "description": "Ciliary dyskinesia, primary, 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110613"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110613",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110613",
            "categories": []
        },
        {
            "id": "MONDO:0013525",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013525",
            "categories": []
        },
        {
            "id": "MIM:614017",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614017",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DHB1-1",
            "uniprot_ac": "Q6DHB1",
            "uniprot_id": "DNAL1_DANRE",
            "refseq_ac": "NP_001003442",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "dynein axonemal light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein light chain 1, axonemal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnal1",
                    "type": "recommended"
                },
                {
                    "name": "dnal1",
                    "type": "synonym"
                },
                {
                    "name": "fc89a04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc89a04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92542",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DHB1-1",
            "evidence": [
                {
                    "id": "0110613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05A62-1",
            "uniprot_ac": "Q05A62",
            "uniprot_id": "DNAL1_MOUSE",
            "refseq_ac": "NP_001333457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "dynein axonemal light chain 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein light chain 1, axonemal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnal1",
                    "type": "recommended"
                },
                {
                    "name": "1700010H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnal1",
                    "type": "synonym"
                },
                {
                    "name": "Dnalc1",
                    "type": "synonym"
                },
                {
                    "name": "E330027P08Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05A62-1",
            "evidence": [
                {
                    "id": "0110613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4LDG9-1",
            "uniprot_ac": "Q4LDG9",
            "uniprot_id": "DNAL1_HUMAN",
            "refseq_ac": "NP_001188295",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "LC1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal light chain 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAL1",
                    "type": "recommended"
                },
                {
                    "name": "C14orf168",
                    "type": "synonym"
                },
                {
                    "name": "CILD16",
                    "type": "synonym"
                },
                {
                    "name": "DNAL1",
                    "type": "synonym"
                },
                {
                    "name": "LC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4LDG9-1",
            "evidence": [
                {
                    "id": "614017",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614017"
                },
                {
                    "id": "0110613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJZ0-1",
            "uniprot_ac": "A0A096MJZ0",
            "uniprot_id": "DNAL1_RAT",
            "refseq_ac": "NP_001102947",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "LC1",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal light chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein light chain 1, axonemal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnal1",
                    "type": "recommended"
                },
                {
                    "name": "Dnal1",
                    "type": "synonym"
                },
                {
                    "name": "Dnalc1",
                    "type": "synonym"
                },
                {
                    "name": "LC1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MJZ0-1",
            "evidence": [
                {
                    "id": "0110613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3Q0-1",
            "uniprot_ac": "Q9V3Q0",
            "uniprot_id": "Q9V3Q0_DROME",
            "refseq_ac": "NP_001246039",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "CG10839-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BG:DS07486.2",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS07486.2",
                    "type": "synonym"
                },
                {
                    "name": "CG10839",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10839",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10839",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3Q0-1",
            "evidence": [
                {
                    "id": "0110613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7U2-1",
            "uniprot_ac": "A1Z7U2",
            "uniprot_id": "A1Z7U2_DROME",
            "refseq_ac": "NP_610483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal light chain 1",
                    "type": "recommended"
                },
                {
                    "name": "CG8800-PA",
                    "type": "synonym"
                },
                {
                    "name": "ODA light chain",
                    "type": "synonym"
                },
                {
                    "name": "ODA-Dnal1-PA",
                    "type": "synonym"
                },
                {
                    "name": "outer dynein arm dynein axonemal light chain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ODA-Dnal1",
                    "type": "recommended"
                },
                {
                    "name": "CG8800",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8800",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8800",
                    "type": "synonym"
                },
                {
                    "name": "ODA-Dnal1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7U2-1",
            "evidence": [
                {
                    "id": "0110613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110613"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110613"
}