{
    "disease_id": "DOID:0110604",
    "recommended_name": {
        "id": "DOID:0110604",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110604",
        "name": "primary ciliary dyskinesia 18",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110604",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110604",
            "name": "primary ciliary dyskinesia 18 with or without situs inversus",
            "description": ""
        },
        {
            "id": "DOID:0110604",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110604",
            "name": "CILD18",
            "description": ""
        },
        {
            "id": "MONDO:0013940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "name": "primary ciliary dyskinesia 18",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene."
        },
        {
            "id": "MONDO:0013940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "name": "CILD18",
            "description": ""
        },
        {
            "id": "MONDO:0013940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "name": "DNAAF5 primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0013940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "name": "ciliary dyskinesia, primary, type 18",
            "description": ""
        },
        {
            "id": "MONDO:0013940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "name": "primary ciliary dyskinesia caused by mutation in DNAAF5",
            "description": ""
        },
        {
            "id": "MONDO:0013940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "name": "primary ciliary dyskinesia type 18",
            "description": ""
        },
        {
            "id": "MONDO:0013940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "name": "ciliary dyskinesia, primary, 18",
            "description": ""
        },
        {
            "id": "MIM:614874",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614874",
            "name": "Ciliary dyskinesia, primary, 18",
            "description": "Ciliary dyskinesia, primary, 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110604"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110604",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110604",
            "categories": []
        },
        {
            "id": "MONDO:0013940",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013940",
            "categories": []
        },
        {
            "id": "MIM:614874",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614874",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B9EJR8-1",
            "uniprot_ac": "B9EJR8",
            "uniprot_id": "DAAF5_MOUSE",
            "refseq_ac": "NP_001074734",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "HEAT repeat-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 5, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 5 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf5",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf5",
                    "type": "synonym"
                },
                {
                    "name": "Heatr2",
                    "type": "synonym"
                }
            ],
            "record_id": "B9EJR8-1",
            "evidence": [
                {
                    "id": "0110604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110604"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86Y56-1",
            "uniprot_ac": "Q86Y56",
            "uniprot_id": "DAAF5_HUMAN",
            "refseq_ac": "NP_060272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 5",
                    "type": "recommended"
                },
                {
                    "name": "HEAT repeat containing 2",
                    "type": "synonym"
                },
                {
                    "name": "HEAT repeat-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 5, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAAF5",
                    "type": "recommended"
                },
                {
                    "name": "CILD18",
                    "type": "synonym"
                },
                {
                    "name": "DNAAF5",
                    "type": "synonym"
                },
                {
                    "name": "HEATR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86Y56-1",
            "evidence": [
                {
                    "id": "614874",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614874"
                },
                {
                    "id": "0110604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110604"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LDA6-1",
            "uniprot_ac": "A0ABK0LDA6",
            "uniprot_id": "A0ABK0LDA6_RAT",
            "refseq_ac": "NP_001128329",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal assembly factor 5",
                    "type": "recommended"
                },
                {
                    "name": "HEAT repeat containing 2",
                    "type": "synonym"
                },
                {
                    "name": "HEAT repeat-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein assembly factor 5, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf5",
                    "type": "recommended"
                },
                {
                    "name": "Dnaaf5",
                    "type": "synonym"
                },
                {
                    "name": "Heatr2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LDA6-1",
            "evidence": [
                {
                    "id": "0110604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110604"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INF7-1",
            "uniprot_ac": "Q8INF7",
            "uniprot_id": "DAAF5_DROME",
            "refseq_ac": "NP_731905",
            "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 axonemal assembly factor 5",
                    "type": "recommended"
                },
                {
                    "name": "CG31320-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf5-PA",
                    "type": "synonym"
                },
                {
                    "name": "HEAT repeat containing 2",
                    "type": "synonym"
                },
                {
                    "name": "HEAT repeat-containing protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "fried",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnaaf5",
                    "type": "recommended"
                },
                {
                    "name": "CG31320",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31320",
                    "type": "synonym"
                },
                {
                    "name": "Dnaaf5",
                    "type": "synonym"
                },
                {
                    "name": "HEATR2",
                    "type": "synonym"
                },
                {
                    "name": "Heatr2",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs27f03",
                    "type": "synonym"
                },
                {
                    "name": "fried",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INF7-1",
            "evidence": [
                {
                    "id": "0110604",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110604"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110604"
}