{
    "disease_id": "DOID:0110617",
    "recommended_name": {
        "id": "DOID:0110617",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110617",
        "name": "primary ciliary dyskinesia 5",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110617",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110617",
            "name": "CILD5",
            "description": ""
        },
        {
            "id": "DOID:0110617",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110617",
            "name": "primary ciliary dyskinesia 5 without situs inversus",
            "description": ""
        },
        {
            "id": "MONDO:0012088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "name": "primary ciliary dyskinesia 5",
            "description": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene."
        },
        {
            "id": "MONDO:0012088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "name": "CILD5",
            "description": ""
        },
        {
            "id": "MONDO:0012088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "name": "HYDIN primary ciliary dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "name": "ciliary dyskinesia, primary, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "name": "primary ciliary dyskinesia caused by mutation in HYDIN",
            "description": ""
        },
        {
            "id": "MONDO:0012088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "name": "primary ciliary dyskinesia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "name": "ciliary dyskinesia, primary, 5",
            "description": ""
        },
        {
            "id": "MIM:608647",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608647",
            "name": "Ciliary dyskinesia, primary, 5",
            "description": "Ciliary dyskinesia, primary, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110617"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110617",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110617",
            "categories": []
        },
        {
            "id": "MONDO:0012088",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012088",
            "categories": []
        },
        {
            "id": "MIM:608647",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608647",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HTI8-1",
            "uniprot_ac": "A0AC58HTI8",
            "uniprot_id": "A0AC58HTI8_DANRE",
            "refseq_ac": "XP_073785286",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydrocephalus-inducing protein homolog isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "hydrocephalus-inducing protein homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hydin",
                    "type": "recommended"
                },
                {
                    "name": "hydin",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-245p7.3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-22b10.1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-22b10.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HTI8-1",
            "evidence": [
                {
                    "id": "0110617",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110617"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80W93-1",
            "uniprot_ac": "Q80W93",
            "uniprot_id": "HYDIN_MOUSE",
            "refseq_ac": "NP_766504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Axonemal central pair apparatus protein HYDIN",
                    "type": "recommended"
                },
                {
                    "name": "Hydrocephalus-inducing protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Hy-3",
                    "type": "synonym"
                },
                {
                    "name": "hydrocephalus 3",
                    "type": "synonym"
                },
                {
                    "name": "hydrocephalus-inducing protein",
                    "type": "synonym"
                },
                {
                    "name": "protein Hy-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hydin",
                    "type": "recommended"
                },
                {
                    "name": "1700034M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930545D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932703P14",
                    "type": "synonym"
                },
                {
                    "name": "672398",
                    "type": "synonym"
                },
                {
                    "name": "A830061H17",
                    "type": "synonym"
                },
                {
                    "name": "AC069308.21gm4",
                    "type": "synonym"
                },
                {
                    "name": "Gm9558",
                    "type": "synonym"
                },
                {
                    "name": "Hy3",
                    "type": "synonym"
                },
                {
                    "name": "Hydin",
                    "type": "synonym"
                },
                {
                    "name": "hy-3",
                    "type": "synonym"
                },
                {
                    "name": "hy3",
                    "type": "synonym"
                },
                {
                    "name": "hyrh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80W93-1",
            "evidence": [
                {
                    "id": "0110617",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110617"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G0P3-1",
            "uniprot_ac": "Q4G0P3",
            "uniprot_id": "HYDIN_HUMAN",
            "refseq_ac": "NP_001185471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Axonemal central pair apparatus protein HYDIN",
                    "type": "recommended"
                },
                {
                    "name": "Hydrocephalus-inducing protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "hydrocephalus-inducing protein homolog isoform c",
                    "type": "synonym"
                },
                {
                    "name": "hydrocephalus-inducing protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HYDIN",
                    "type": "recommended"
                },
                {
                    "name": "CILD5",
                    "type": "synonym"
                },
                {
                    "name": "HYDIN1",
                    "type": "synonym"
                },
                {
                    "name": "HYDIN",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1864",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R31",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G0P3-1",
            "evidence": [
                {
                    "id": "608647",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608647"
                },
                {
                    "id": "0110617",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110617"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LSN6-1",
            "uniprot_ac": "F1LSN6",
            "uniprot_id": "F1LSN6_RAT",
            "refseq_ac": "XP_038954160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydin, axonemal central pair apparatus protein",
                    "type": "synonym"
                },
                {
                    "name": "hydrocephalus-inducing protein homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hydin",
                    "type": "recommended"
                },
                {
                    "name": "Hydin",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LSN6-1",
            "evidence": [
                {
                    "id": "0110617",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110617"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110617"
}