{
    "disease_id": "DOID:0110597",
    "recommended_name": {
        "id": "DOID:0110597",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110597",
        "name": "primary ciliary dyskinesia 22",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110597",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110597",
            "name": "CILD22",
            "description": ""
        },
        {
            "id": "DOID:0110597",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110597",
            "name": "primary ciliary dyskinesia 22 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0014192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "name": "primary ciliary dyskinesia 22",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene."
        },
        {
            "id": "MONDO:0014192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "name": "CILD22",
            "description": ""
        },
        {
            "id": "MONDO:0014192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "name": "ZMYND10 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0014192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "name": "ciliary dyskinesia, primary, type 22",
            "description": ""
        },
        {
            "id": "MONDO:0014192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "name": "primary ciliary dyskinesia caused by mutation in ZMYND10",
            "description": ""
        },
        {
            "id": "MONDO:0014192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "name": "primary ciliary dyskinesia type 22",
            "description": ""
        },
        {
            "id": "MONDO:0014192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "name": "ciliary dyskinesia, primary, 22",
            "description": ""
        },
        {
            "id": "MIM:615444",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615444",
            "name": "Ciliary dyskinesia, primary, 22",
            "description": "Ciliary dyskinesia, primary, 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110597"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110597",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110597",
            "categories": []
        },
        {
            "id": "MONDO:0014192",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014192",
            "categories": []
        },
        {
            "id": "MIM:615444",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615444",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QN74-1",
            "uniprot_ac": "F1QN74",
            "uniprot_id": "ZMY10_DANRE",
            "refseq_ac": "NP_956691",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 10",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zmynd10",
                    "type": "recommended"
                },
                {
                    "name": "zgc:63660",
                    "type": "synonym"
                },
                {
                    "name": "zmynd10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QN74-1",
            "evidence": [
                {
                    "id": "0110597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99ML0-1",
            "uniprot_ac": "Q99ML0",
            "uniprot_id": "ZMY10_MOUSE",
            "refseq_ac": "NP_444483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 10",
                    "type": "recommended"
                },
                {
                    "name": "Protein BLu",
                    "type": "synonym"
                },
                {
                    "name": "protein BLu",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zmynd10",
                    "type": "recommended"
                },
                {
                    "name": "Blu",
                    "type": "synonym"
                },
                {
                    "name": "Zmynd10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99ML0-1",
            "evidence": [
                {
                    "id": "0110597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75800-1",
            "uniprot_ac": "O75800",
            "uniprot_id": "ZMY10_HUMAN",
            "refseq_ac": "NP_001295308",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 10",
                    "type": "recommended"
                },
                {
                    "name": "Ciliary dyskinesia, primary, 22",
                    "type": "synonym"
                },
                {
                    "name": "Protein BLu",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 7",
                    "type": "synonym"
                },
                {
                    "name": "protein BLu",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor BLU",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZMYND10",
                    "type": "recommended"
                },
                {
                    "name": "BLU",
                    "type": "synonym"
                },
                {
                    "name": "CILD22",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF7",
                    "type": "synonym"
                },
                {
                    "name": "FLU",
                    "type": "synonym"
                },
                {
                    "name": "LUCA12.4",
                    "type": "synonym"
                },
                {
                    "name": "ZMYND10",
                    "type": "synonym"
                }
            ],
            "record_id": "O75800-1",
            "evidence": [
                {
                    "id": "615444",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615444"
                },
                {
                    "id": "0110597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AXZ5-1",
            "uniprot_ac": "Q6AXZ5",
            "uniprot_id": "ZMY10_RAT",
            "refseq_ac": "NP_001004284",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 10",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger MYND domain-containing protein 10",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, MYND domain-containing 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zmynd10",
                    "type": "recommended"
                },
                {
                    "name": "Zmynd10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AXZ5-1",
            "evidence": [
                {
                    "id": "0110597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU41-1",
            "uniprot_ac": "Q9VU41",
            "uniprot_id": "ZMY10_DROME",
            "refseq_ac": "NP_648625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger MYND domain-containing protein 10 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG11253-PA",
                    "type": "synonym"
                },
                {
                    "name": "ZMYND10 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Zmynd10-PA",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger MYND-type containing 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zmynd10",
                    "type": "recommended"
                },
                {
                    "name": "CG11253",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11253",
                    "type": "synonym"
                },
                {
                    "name": "Zmynd10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU41-1",
            "evidence": [
                {
                    "id": "0110597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110597"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110597"
}