{
    "disease_id": "DOID:0110605",
    "recommended_name": {
        "id": "DOID:0110605",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110605",
        "name": "primary ciliary dyskinesia 7",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110605",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110605",
            "name": "CILD7",
            "description": ""
        },
        {
            "id": "DOID:0110605",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110605",
            "name": "primary ciliary dyskinesia 7 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "primary ciliary dyskinesia 7",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene."
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "CILD7",
            "description": ""
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "DNAH11 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "ciliary dyskinesia, primary, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "primary ciliary dyskinesia 7",
            "description": ""
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "primary ciliary dyskinesia caused by mutation in DNAH11",
            "description": ""
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "primary ciliary dyskinesia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "name": "ciliary dyskinesia, primary, 7",
            "description": ""
        },
        {
            "id": "MIM:611884",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611884",
            "name": "Ciliary dyskinesia, primary, 7",
            "description": "Ciliary dyskinesia, primary, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110605"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110605",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110605",
            "categories": []
        },
        {
            "id": "MONDO:0012748",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012748",
            "categories": []
        },
        {
            "id": "MIM:611884",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611884",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9Q7N9-1",
            "uniprot_ac": "E9Q7N9",
            "uniprot_id": "E9Q7N9_MOUSE",
            "refseq_ac": "NP_034190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 11",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axon, heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "situs inversus viscerum",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah11",
                    "type": "recommended"
                },
                {
                    "name": "Dnah11",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc11",
                    "type": "synonym"
                },
                {
                    "name": "avc4",
                    "type": "synonym"
                },
                {
                    "name": "b2b1203Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1279Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1289Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1727Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b598Clo",
                    "type": "synonym"
                },
                {
                    "name": "iv",
                    "type": "synonym"
                },
                {
                    "name": "lrd",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q7N9-1",
            "evidence": [
                {
                    "id": "0110605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96DT5-1",
            "uniprot_ac": "Q96DT5",
            "uniprot_id": "DYH11_HUMAN",
            "refseq_ac": "NP_001264044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 11",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 11",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 11, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 11",
                    "type": "synonym"
                },
                {
                    "name": "dynein, ciliary, heavy chain 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH11",
                    "type": "recommended"
                },
                {
                    "name": "CILD7",
                    "type": "synonym"
                },
                {
                    "name": "DNAH11",
                    "type": "synonym"
                },
                {
                    "name": "DNAHBL",
                    "type": "synonym"
                },
                {
                    "name": "DNAHC11",
                    "type": "synonym"
                },
                {
                    "name": "DNHBL",
                    "type": "synonym"
                },
                {
                    "name": "DPL11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96DT5-1",
            "evidence": [
                {
                    "id": "611884",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611884"
                },
                {
                    "id": "0110605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62912-1",
            "uniprot_ac": "P62912",
            "uniprot_id": "RL32_RAT",
            "refseq_ac": "NP_037358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL32",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L32",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah11",
                    "type": "recommended"
                },
                {
                    "name": "Rpl32",
                    "type": "recommended"
                },
                {
                    "name": "Rpl32",
                    "type": "synonym"
                }
            ],
            "record_id": "P62912-1",
            "evidence": [
                {
                    "id": "0110605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88823-1",
            "uniprot_ac": "O88823",
            "uniprot_id": "JTB_RAT",
            "refseq_ac": "NP_062086",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein JTB",
                    "type": "recommended"
                },
                {
                    "name": "protein JTB precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein JTB-like",
                    "type": "synonym"
                },
                {
                    "name": "protein JTB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jtb",
                    "type": "recommended"
                },
                {
                    "name": "Jtb",
                    "type": "synonym"
                }
            ],
            "record_id": "O88823-1",
            "evidence": [
                {
                    "id": "0110605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KI05-1",
            "uniprot_ac": "Q0KI05",
            "uniprot_id": "Q0KI05_DROME",
            "refseq_ac": "NP_001036762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3339-PC",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3339",
                    "type": "recommended"
                },
                {
                    "name": "CG3339",
                    "type": "synonym"
                },
                {
                    "name": "DHC5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3339",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3339",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KI05-1",
            "evidence": [
                {
                    "id": "0110605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHJ4-1",
            "uniprot_ac": "A0A0B4KHJ4",
            "uniprot_id": "A0A0B4KHJ4_DROME",
            "refseq_ac": "NP_001262793",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3723-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dhc93AB-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dynein heavy chain at 93AB, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain at 93AB, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "dynein-related heavy chain polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhc93AB",
                    "type": "recommended"
                },
                {
                    "name": "CG3723",
                    "type": "synonym"
                },
                {
                    "name": "DHC4C",
                    "type": "synonym"
                },
                {
                    "name": "DHC",
                    "type": "synonym"
                },
                {
                    "name": "Dhc 93AB",
                    "type": "synonym"
                },
                {
                    "name": "Dhc93AB",
                    "type": "synonym"
                },
                {
                    "name": "Dhc",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3723",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3723",
                    "type": "synonym"
                },
                {
                    "name": "dhc93AB",
                    "type": "synonym"
                },
                {
                    "name": "dhc",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHJ4-1",
            "evidence": [
                {
                    "id": "0110605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110605"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110605"
}