{
    "disease_id": "DOID:0110621",
    "recommended_name": {
        "id": "DOID:0110621",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110621",
        "name": "primary ciliary dyskinesia 17",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110621",
            "name": "CILD17",
            "description": ""
        },
        {
            "id": "DOID:0110621",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110621",
            "name": "primary ciliary dyskinesia 17 with or without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "primary ciliary dyskinesia 17",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene."
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "CCDC103 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "CILD17",
            "description": ""
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "ciliary dyskinesia, primary, type 17",
            "description": ""
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "primary ciliary dyskinesia 17",
            "description": ""
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "primary ciliary dyskinesia caused by mutation in CCDC103",
            "description": ""
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "primary ciliary dyskinesia type 17",
            "description": ""
        },
        {
            "id": "MONDO:0013854",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "name": "ciliary dyskinesia, primary, 17",
            "description": ""
        },
        {
            "id": "MIM:614679",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614679",
            "name": "Ciliary dyskinesia, primary, 17",
            "description": "Ciliary dyskinesia, primary, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110621"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110621",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110621",
            "categories": []
        },
        {
            "id": "MONDO:0013854",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013854",
            "categories": []
        },
        {
            "id": "MIM:614679",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614679",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DGB6-1",
            "uniprot_ac": "Q6DGB6",
            "uniprot_id": "DAA19_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 19",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 103",
                    "type": "synonym"
                },
                {
                    "name": "Protein schmalhans",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnaaf19",
                    "type": "recommended"
                },
                {
                    "name": "ccdc103",
                    "type": "synonym"
                },
                {
                    "name": "smh",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100838",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGB6-1",
            "evidence": [
                {
                    "id": "0110621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D9P2-1",
            "uniprot_ac": "Q9D9P2",
            "uniprot_id": "DAA19_MOUSE",
            "refseq_ac": "NP_082768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 19",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 103",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 103",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 103",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 19 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc103",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf19",
                    "type": "recommended"
                },
                {
                    "name": "1700039D13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc103",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D9P2-1",
            "evidence": [
                {
                    "id": "0110621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IW40-1",
            "uniprot_ac": "Q8IW40",
            "uniprot_id": "DAA19_HUMAN",
            "refseq_ac": "NP_001245324",
            "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 19",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 103",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 103",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 103",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 19 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF19",
                    "type": "recommended"
                },
                {
                    "name": "CCDC103",
                    "type": "synonym"
                },
                {
                    "name": "CILD17",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF19",
                    "type": "synonym"
                },
                {
                    "name": "PR46b",
                    "type": "synonym"
                },
                {
                    "name": "SMH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IW40-1",
            "evidence": [
                {
                    "id": "614679",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614679"
                },
                {
                    "id": "0110621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8H9-1",
            "uniprot_ac": "D3Z8H9",
            "uniprot_id": "D3Z8H9_RAT",
            "refseq_ac": "NP_001102519",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain containing 103",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 103",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 103",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf19",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc103",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf19",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562370",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8H9-1",
            "evidence": [
                {
                    "id": "0110621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8J9-1",
            "uniprot_ac": "A1Z8J9",
            "uniprot_id": "A1Z8J9_DROME",
            "refseq_ac": "NP_610675",
            "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 attachment factor N-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13202-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13202",
                    "type": "recommended"
                },
                {
                    "name": "CG13202",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13202",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13202",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8J9-1",
            "evidence": [
                {
                    "id": "0110621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110621"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110621"
}