{
    "disease_id": "DOID:0070170",
    "recommended_name": {
        "id": "DOID:0070170",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070170",
        "name": "spermatogenic failure 19",
        "description": "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070170",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070170",
            "name": "SPGF19",
            "description": ""
        },
        {
            "id": "MONDO:0054723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054723",
            "name": "spermatogenic failure 19",
            "description": ""
        },
        {
            "id": "MONDO:0054723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054723",
            "name": "spermatogenic failure 19",
            "description": ""
        },
        {
            "id": "MONDO:0054723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054723",
            "name": "SPGF19",
            "description": ""
        },
        {
            "id": "MIM:617592",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617592",
            "name": "Spermatogenic failure 19",
            "description": "Spermatogenic failure 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070170"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070170",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070170",
            "categories": []
        },
        {
            "id": "MONDO:0054723",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054723",
            "categories": []
        },
        {
            "id": "MIM:617592",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617592",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TBN9-1",
            "uniprot_ac": "A0A8N7TBN9",
            "uniprot_id": "A0A8N7TBN9_DANRE",
            "refseq_ac": "XP_697139",
            "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 43",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap43",
                    "type": "recommended"
                },
                {
                    "name": "cfap43",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TBN9-1",
            "evidence": [
                {
                    "id": "0070170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q7R9-1",
            "uniprot_ac": "E9Q7R9",
            "uniprot_id": "CFA43_MOUSE",
            "refseq_ac": "NP_081835",
            "glycoprotein": "yes",
            "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 43",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 96",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap43",
                    "type": "recommended"
                },
                {
                    "name": "4632415N18Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930428C11Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930463G05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap43",
                    "type": "synonym"
                },
                {
                    "name": "D19Ertd652e",
                    "type": "synonym"
                },
                {
                    "name": "Wdr96",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q7R9-1",
            "evidence": [
                {
                    "id": "0070170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NDM7-1",
            "uniprot_ac": "Q8NDM7",
            "uniprot_id": "CFA43_HUMAN",
            "refseq_ac": "NP_079421",
            "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 43",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 96",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 96",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein C10orf79",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP43",
                    "type": "recommended"
                },
                {
                    "name": "C10orf79",
                    "type": "synonym"
                },
                {
                    "name": "CFAP43",
                    "type": "synonym"
                },
                {
                    "name": "HYDNP1",
                    "type": "synonym"
                },
                {
                    "name": "SPGF19",
                    "type": "synonym"
                },
                {
                    "name": "WDR96",
                    "type": "synonym"
                },
                {
                    "name": "bA373N18.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NDM7-1",
            "evidence": [
                {
                    "id": "617592",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617592"
                },
                {
                    "id": "0070170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LN76-1",
            "uniprot_ac": "F1LN76",
            "uniprot_id": "F1LN76_RAT",
            "refseq_ac": "NP_001419285",
            "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 43",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 96",
                    "type": "synonym"
                },
                {
                    "name": "cilia and flagella associated protein 43 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap43",
                    "type": "recommended"
                },
                {
                    "name": "Cfap43",
                    "type": "synonym"
                },
                {
                    "name": "Wdr96",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LN76-1",
            "evidence": [
                {
                    "id": "0070170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070170"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU57-1",
            "uniprot_ac": "Q9VU57",
            "uniprot_id": "Q9VU57_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 43",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG17687",
                    "type": "recommended"
                },
                {
                    "name": "CG17687",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17687",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU57-1",
            "evidence": [
                {
                    "id": "0070170",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070170"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070170"
}