{
    "disease_id": "DOID:0111851",
    "recommended_name": {
        "id": "DOID:0111851",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111851",
        "name": "primary ciliary dyskinesia 44",
        "description": "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111851",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111851",
            "name": "CILD44",
            "description": ""
        },
        {
            "id": "DOID:0111851",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111851",
            "name": "primary ciliary dyskinesia 44 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0032914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032914",
            "name": "ciliary dyskinesia, primary, 44",
            "description": ""
        },
        {
            "id": "MONDO:0032914",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032914",
            "name": "CILD44",
            "description": ""
        },
        {
            "id": "MIM:618781",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618781",
            "name": "Ciliary dyskinesia, primary, 44",
            "description": "Ciliary dyskinesia, primary, 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111851"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111851",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111851",
            "categories": []
        },
        {
            "id": "MONDO:0032914",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032914",
            "categories": []
        },
        {
            "id": "MIM:618781",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618781",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AJH8-1",
            "uniprot_ac": "A0A8M3AJH8",
            "uniprot_id": "A0A8M3AJH8_DANRE",
            "refseq_ac": "XP_009290963",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek10",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nek10",
                    "type": "recommended"
                },
                {
                    "name": "nek10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AJH8-1",
            "evidence": [
                {
                    "id": "0111851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111851"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UGM2-1",
            "uniprot_ac": "Q3UGM2",
            "uniprot_id": "NEK10_MOUSE",
            "refseq_ac": "NP_001182158",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek10",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek10",
                    "type": "recommended"
                },
                {
                    "name": "Gm282",
                    "type": "synonym"
                },
                {
                    "name": "Nek10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UGM2-1",
            "evidence": [
                {
                    "id": "0111851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111851"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZWH5-1",
            "uniprot_ac": "Q6ZWH5",
            "uniprot_id": "NEK10_HUMAN",
            "refseq_ac": "NP_001026911",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek10",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NIMA (never in mitosis gene a)- related kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "NimA-related protein kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "never in mitosis A-related kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "nimA-related protein kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Nek10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEK10",
                    "type": "recommended"
                },
                {
                    "name": "CILD44",
                    "type": "synonym"
                },
                {
                    "name": "NEK10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZWH5-1",
            "evidence": [
                {
                    "id": "618781",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618781"
                },
                {
                    "id": "0111851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111851"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L6W2-1",
            "uniprot_ac": "A0ABK0L6W2",
            "uniprot_id": "A0ABK0L6W2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Nek10",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Never in mitosis A-related kinase 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nek10",
                    "type": "recommended"
                },
                {
                    "name": "RGD1564342",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L6W2-1",
            "evidence": [
                {
                    "id": "0111851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111851"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111851"
}