{
    "disease_id": "DOID:0111850",
    "recommended_name": {
        "id": "DOID:0111850",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111850",
        "name": "primary ciliary dyskinesia 36",
        "description": "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111850",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111850",
            "name": "CILD36",
            "description": ""
        },
        {
            "id": "DOID:0111850",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111850",
            "name": "X-linked primary ciliary dyskinesia 36",
            "description": ""
        },
        {
            "id": "MONDO:0010517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "name": "ciliary dyskinesia, primary, 36, X-linked",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene."
        },
        {
            "id": "MONDO:0010517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "name": "CILD36",
            "description": ""
        },
        {
            "id": "MONDO:0010517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "name": "PIH1D3 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0010517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "name": "ciliary dyskinesia, primary, 36, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "name": "ciliary dyskinesia, primary, 36, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "name": "ciliary dyskinesia, primary, 36, X-linked; CILD36",
            "description": ""
        },
        {
            "id": "MONDO:0010517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "name": "primary ciliary dyskinesia caused by mutation in PIH1D3",
            "description": ""
        },
        {
            "id": "MIM:300991",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300991",
            "name": "Ciliary dyskinesia, primary, 36, X-linked",
            "description": "Ciliary dyskinesia, primary, 36, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111850"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111850",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111850",
            "categories": []
        },
        {
            "id": "MONDO:0010517",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010517",
            "categories": []
        },
        {
            "id": "MIM:300991",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300991",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3KNI6-1",
            "uniprot_ac": "Q3KNI6",
            "uniprot_id": "DAAF6_MOUSE",
            "refseq_ac": "NP_083338",
            "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 6",
                    "type": "recommended"
                },
                {
                    "name": "PIH1 domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "PIH1 domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 6, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 6",
                    "type": "synonym"
                },
                {
                    "name": "protein PIH1D3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf6",
                    "type": "recommended"
                },
                {
                    "name": "4930521A18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf6rt",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf6",
                    "type": "synonym"
                },
                {
                    "name": "Pih1d3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3KNI6-1",
            "evidence": [
                {
                    "id": "0111850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQM4-1",
            "uniprot_ac": "Q9NQM4",
            "uniprot_id": "DAAF6_HUMAN",
            "refseq_ac": "NP_001162625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 6",
                    "type": "recommended"
                },
                {
                    "name": "PIH1 domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "PIH1 domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sarcoma antigen NY-SAR-97",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 6, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 6",
                    "type": "synonym"
                },
                {
                    "name": "protein PIH1D3",
                    "type": "synonym"
                },
                {
                    "name": "sarcoma antigen NY-SAR-97",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF6",
                    "type": "recommended"
                },
                {
                    "name": "CILD36",
                    "type": "synonym"
                },
                {
                    "name": "CXorf41",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF6",
                    "type": "synonym"
                },
                {
                    "name": "NYSAR97",
                    "type": "synonym"
                },
                {
                    "name": "PIH1D3",
                    "type": "synonym"
                },
                {
                    "name": "TWISTER",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQM4-1",
            "evidence": [
                {
                    "id": "300991",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300991"
                },
                {
                    "id": "0111850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111850"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUG3-1",
            "uniprot_ac": "Q9VUG3",
            "uniprot_id": "Q9VUG3_DROME",
            "refseq_ac": "NP_648712",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5048-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf6-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dynein axonemal assembly factor 6",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf6",
                    "type": "recommended"
                },
                {
                    "name": "CG5048",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5048",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5048",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf6",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUG3-1",
            "evidence": [
                {
                    "id": "0111850",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111850"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111850"
}