{
    "disease_id": "DOID:0070166",
    "recommended_name": {
        "id": "DOID:0070166",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070166",
        "name": "spermatogenic failure 20",
        "description": "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070166",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070166",
            "name": "SPGF20",
            "description": ""
        },
        {
            "id": "MONDO:0054724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054724",
            "name": "spermatogenic failure 20",
            "description": ""
        },
        {
            "id": "MONDO:0054724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054724",
            "name": "spermatogenic failure 20",
            "description": ""
        },
        {
            "id": "MONDO:0054724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054724",
            "name": "SPGF20",
            "description": ""
        },
        {
            "id": "MIM:617593",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617593",
            "name": "Spermatogenic failure 20",
            "description": "Spermatogenic failure 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070166"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070166",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070166",
            "categories": []
        },
        {
            "id": "MONDO:0054724",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054724",
            "categories": []
        },
        {
            "id": "MIM:617593",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617593",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9Q5M6-1",
            "uniprot_ac": "E9Q5M6",
            "uniprot_id": "CFA44_MOUSE",
            "refseq_ac": "NP_001028419",
            "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 44",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 52",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap44",
                    "type": "recommended"
                },
                {
                    "name": "6330444M21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap44",
                    "type": "synonym"
                },
                {
                    "name": "D16Ertd642e",
                    "type": "synonym"
                },
                {
                    "name": "Gm1750",
                    "type": "synonym"
                },
                {
                    "name": "Wdr52",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q5M6-1",
            "evidence": [
                {
                    "id": "0070166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MT7-2",
            "uniprot_ac": "Q96MT7",
            "uniprot_id": "CFA44_HUMAN",
            "refseq_ac": "NP_001157968",
            "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 44",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 52",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 52",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 44 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP44",
                    "type": "recommended"
                },
                {
                    "name": "CFAP44",
                    "type": "synonym"
                },
                {
                    "name": "SPGF20",
                    "type": "synonym"
                },
                {
                    "name": "WDR52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MT7-2",
            "evidence": [
                {
                    "id": "617593",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617593"
                },
                {
                    "id": "0070166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXR2-1",
            "uniprot_ac": "D3ZXR2",
            "uniprot_id": "D3ZXR2_RAT",
            "refseq_ac": "NP_001128062",
            "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 44",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 52-like",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 52",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap44",
                    "type": "recommended"
                },
                {
                    "name": "Cfap44",
                    "type": "synonym"
                },
                {
                    "name": "LOC100364695",
                    "type": "synonym"
                },
                {
                    "name": "RGD1559942",
                    "type": "synonym"
                },
                {
                    "name": "Wdr52",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXR2-1",
            "evidence": [
                {
                    "id": "0070166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E8T7-1",
            "uniprot_ac": "Q0E8T7",
            "uniprot_id": "Q0E8T7_DROME",
            "refseq_ac": "NP_001036333",
            "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 44",
                    "type": "recommended"
                },
                {
                    "name": "CG34124-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG31652",
                    "type": "recommended"
                },
                {
                    "name": "CG31652",
                    "type": "synonym"
                },
                {
                    "name": "CG34124",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34124",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34124",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E8T7-1",
            "evidence": [
                {
                    "id": "0070166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070166"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070166"
}