{
    "disease_id": "DOID:0110615",
    "recommended_name": {
        "id": "DOID:0110615",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110615",
        "name": "primary ciliary dyskinesia 25",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110615",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110615",
            "name": "CILD25",
            "description": ""
        },
        {
            "id": "DOID:0110615",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110615",
            "name": "primary ciliary dyskinesia 25 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "name": "primary ciliary dyskinesia 25",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene."
        },
        {
            "id": "MONDO:0014203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "name": "CILD25",
            "description": ""
        },
        {
            "id": "MONDO:0014203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "name": "DNAAF4 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "name": "ciliary dyskinesia, primary, type 25",
            "description": ""
        },
        {
            "id": "MONDO:0014203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "name": "primary ciliary dyskinesia caused by mutation in DNAAF4",
            "description": ""
        },
        {
            "id": "MONDO:0014203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "name": "primary ciliary dyskinesia type 25",
            "description": ""
        },
        {
            "id": "MONDO:0014203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "name": "ciliary dyskinesia, primary, 25",
            "description": ""
        },
        {
            "id": "MIM:615482",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615482",
            "name": "Ciliary dyskinesia, primary, 25",
            "description": "Ciliary dyskinesia, primary, 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110615"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110615",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110615",
            "categories": []
        },
        {
            "id": "MONDO:0014203",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014203",
            "categories": []
        },
        {
            "id": "MIM:615482",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615482",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R368-1",
            "uniprot_ac": "Q8R368",
            "uniprot_id": "DAAF4_MOUSE",
            "refseq_ac": "NP_080590",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "Dyslexia susceptibility 1 candidate gene 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 4, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dyslexia susceptibility 1 candidate 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dyslexia susceptibility 1 candidate gene 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf4",
                    "type": "recommended"
                },
                {
                    "name": "1700010I24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf4",
                    "type": "synonym"
                },
                {
                    "name": "Dyx1c1",
                    "type": "synonym"
                },
                {
                    "name": "EKN1",
                    "type": "synonym"
                },
                {
                    "name": "Ekn1",
                    "type": "synonym"
                },
                {
                    "name": "b2b811.1Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b811Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R368-1",
            "evidence": [
                {
                    "id": "0110615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXU2-1",
            "uniprot_ac": "Q8WXU2",
            "uniprot_id": "DAAF4_HUMAN",
            "refseq_ac": "NP_001028731",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "Dyslexia susceptibility 1 candidate gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 4, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "dyslexia susceptibility 1 candidate 1",
                    "type": "synonym"
                },
                {
                    "name": "dyslexia susceptibility 1 candidate gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF4",
                    "type": "recommended"
                },
                {
                    "name": "CILD25",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF4",
                    "type": "synonym"
                },
                {
                    "name": "DYX1C1",
                    "type": "synonym"
                },
                {
                    "name": "DYX1",
                    "type": "synonym"
                },
                {
                    "name": "DYXC1",
                    "type": "synonym"
                },
                {
                    "name": "EKN1",
                    "type": "synonym"
                },
                {
                    "name": "RD",
                    "type": "synonym"
                },
                {
                    "name": "pf23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXU2-1",
            "evidence": [
                {
                    "id": "615482",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615482"
                },
                {
                    "id": "0110615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5VJS5-1",
            "uniprot_ac": "Q5VJS5",
            "uniprot_id": "DAAF4_RAT",
            "refseq_ac": "NP_001007011",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Dyslexia susceptibility 1 candidate gene 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 4, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "dyslexia susceptibility 1 candidate 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dyslexia susceptibility 1 candidate gene 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf4",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf4",
                    "type": "synonym"
                },
                {
                    "name": "Dyx1c1",
                    "type": "synonym"
                },
                {
                    "name": "Edem2",
                    "type": "synonym"
                },
                {
                    "name": "Ekn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5VJS5-1",
            "evidence": [
                {
                    "id": "0110615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKJ5-1",
            "uniprot_ac": "Q9VKJ5",
            "uniprot_id": "Q9VKJ5_DROME",
            "refseq_ac": "NP_609491",
            "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 assembly factor 4",
                    "type": "recommended"
                },
                {
                    "name": "CG14921-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf4-PA",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf4",
                    "type": "recommended"
                },
                {
                    "name": "CG14921",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14921",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14921",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKJ5-1",
            "evidence": [
                {
                    "id": "0110615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110615"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110615"
}