{
    "disease_id": "DOID:0111929",
    "recommended_name": {
        "id": "DOID:0111929",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111929",
        "name": "spermatogenic failure 24",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111929",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111929",
            "name": "SPGF24",
            "description": ""
        },
        {
            "id": "MONDO:0054728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054728",
            "name": "spermatogenic failure 24",
            "description": ""
        },
        {
            "id": "MONDO:0054728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054728",
            "name": "spermatogenic failure 24",
            "description": ""
        },
        {
            "id": "MONDO:0054728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054728",
            "name": "SPGF24",
            "description": ""
        },
        {
            "id": "MIM:617959",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617959",
            "name": "Spermatogenic failure 24",
            "description": "Spermatogenic failure 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111929"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111929",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111929",
            "categories": []
        },
        {
            "id": "MONDO:0054728",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054728",
            "categories": []
        },
        {
            "id": "MIM:617959",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617959",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BH53-1",
            "uniprot_ac": "Q8BH53",
            "uniprot_id": "CFA69_MOUSE",
            "refseq_ac": "NP_766035",
            "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 69",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 69",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap69",
                    "type": "recommended"
                },
                {
                    "name": "4921525K03",
                    "type": "synonym"
                },
                {
                    "name": "A330021E22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap69",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH53-1",
            "evidence": [
                {
                    "id": "0111929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111929"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5D8W1-1",
            "uniprot_ac": "A5D8W1",
            "uniprot_id": "CFA69_HUMAN",
            "refseq_ac": "NP_001034795",
            "glycoprotein": "yes",
            "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 69",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 69 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP69",
                    "type": "recommended"
                },
                {
                    "name": "C7orf63",
                    "type": "synonym"
                },
                {
                    "name": "CFAP69",
                    "type": "synonym"
                },
                {
                    "name": "FAP69",
                    "type": "synonym"
                },
                {
                    "name": "SPGF24",
                    "type": "synonym"
                }
            ],
            "record_id": "A5D8W1-1",
            "evidence": [
                {
                    "id": "617959",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617959"
                },
                {
                    "id": "0111929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111929"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LTX0-1",
            "uniprot_ac": "A0ABK0LTX0",
            "uniprot_id": "A0ABK0LTX0_RAT",
            "refseq_ac": "",
            "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 69",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap69",
                    "type": "recommended"
                },
                {
                    "name": "LOC100910867",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LTX0-1",
            "evidence": [
                {
                    "id": "0111929",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111929"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111929"
}