{
    "disease_id": "DOID:0111852",
    "recommended_name": {
        "id": "DOID:0111852",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111852",
        "name": "primary ciliary dyskinesia 38",
        "description": "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111852",
            "name": "primary ciliary dyskinesia 38 with or without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0111852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111852",
            "name": "CILD38",
            "description": ""
        },
        {
            "id": "MONDO:0054843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054843",
            "name": "ciliary dyskinesia, primary, 38",
            "description": ""
        },
        {
            "id": "MONDO:0054843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054843",
            "name": "CILD38",
            "description": ""
        },
        {
            "id": "MIM:618063",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618063",
            "name": "Ciliary dyskinesia, primary, 38",
            "description": "Ciliary dyskinesia, primary, 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111852"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111852",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111852",
            "categories": []
        },
        {
            "id": "MONDO:0054843",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054843",
            "categories": []
        },
        {
            "id": "MIM:618063",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618063",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "I3ITQ2-1",
            "uniprot_ac": "I3ITQ2",
            "uniprot_id": "I3ITQ2_DANRE",
            "refseq_ac": "NP_001070813",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 300",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 300",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap300",
                    "type": "recommended"
                },
                {
                    "name": "bZ1P14.7",
                    "type": "synonym"
                },
                {
                    "name": "cfap300",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1p14.7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153619",
                    "type": "synonym"
                }
            ],
            "record_id": "I3ITQ2-1",
            "evidence": [
                {
                    "id": "0111852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CC70-1",
            "uniprot_ac": "Q8CC70",
            "uniprot_id": "CF300_MOUSE",
            "refseq_ac": "NP_950182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 300",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 300 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C11orf70 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap300",
                    "type": "recommended"
                },
                {
                    "name": "9230110C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap300",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CC70-1",
            "evidence": [
                {
                    "id": "0111852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BRQ4-1",
            "uniprot_ac": "Q9BRQ4",
            "uniprot_id": "CF300_HUMAN",
            "refseq_ac": "NP_116319",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 300",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 300 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 17",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C11orf70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP300",
                    "type": "recommended"
                },
                {
                    "name": "C11orf70",
                    "type": "synonym"
                },
                {
                    "name": "CFAP300",
                    "type": "synonym"
                },
                {
                    "name": "CILD38",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF17",
                    "type": "synonym"
                },
                {
                    "name": "FBB5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BRQ4-1",
            "evidence": [
                {
                    "id": "618063",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618063"
                },
                {
                    "id": "0111852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FQ4-1",
            "uniprot_ac": "Q68FQ4",
            "uniprot_id": "CF300_RAT",
            "refseq_ac": "NP_001034263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 300",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 300",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C11orf70 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap300",
                    "type": "recommended"
                },
                {
                    "name": "Cfap300",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FQ4-1",
            "evidence": [
                {
                    "id": "0111852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111852"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111852"
}