{
    "disease_id": "DOID:0111917",
    "recommended_name": {
        "id": "DOID:0111917",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111917",
        "name": "spermatogenic failure 43",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111917",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111917",
            "name": "SPGF43",
            "description": ""
        },
        {
            "id": "MONDO:0032898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032898",
            "name": "spermatogenic failure 43",
            "description": ""
        },
        {
            "id": "MONDO:0032898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032898",
            "name": "SPGF43",
            "description": ""
        },
        {
            "id": "MIM:618751",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618751",
            "name": "Spermatogenic failure 43",
            "description": "Spermatogenic failure 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111917"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111917",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111917",
            "categories": []
        },
        {
            "id": "MONDO:0032898",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032898",
            "categories": []
        },
        {
            "id": "MIM:618751",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618751",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JJ34-1",
            "uniprot_ac": "A0AC58JJ34",
            "uniprot_id": "A0AC58JJ34_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm flagellar protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spef2",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-149f21.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JJ34-1",
            "evidence": [
                {
                    "id": "0111917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111917"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C9J3-1",
            "uniprot_ac": "Q8C9J3",
            "uniprot_id": "SPEF2_MOUSE",
            "refseq_ac": "NP_001291971",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm flagella and cilia-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Protein KPL2",
                    "type": "synonym"
                },
                {
                    "name": "Sperm flagellar protein 2",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spef2",
                    "type": "recommended"
                },
                {
                    "name": "C230086A09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kpl2",
                    "type": "synonym"
                },
                {
                    "name": "Spef2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C9J3-1",
            "evidence": [
                {
                    "id": "0111917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111917"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C093-1",
            "uniprot_ac": "Q9C093",
            "uniprot_id": "SPEF2_HUMAN",
            "refseq_ac": "NP_079143",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm flagella and cilia-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Protein KPL2",
                    "type": "synonym"
                },
                {
                    "name": "Sperm flagellar protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 122",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar 2",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar protein 2",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 47a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPEF2",
                    "type": "recommended"
                },
                {
                    "name": "CT122",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1770",
                    "type": "synonym"
                },
                {
                    "name": "KPL2",
                    "type": "synonym"
                },
                {
                    "name": "SPEF2",
                    "type": "synonym"
                },
                {
                    "name": "SPGF43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C093-1",
            "evidence": [
                {
                    "id": "618751",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618751"
                },
                {
                    "id": "0111917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111917"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R095-1",
            "uniprot_ac": "Q9R095",
            "uniprot_id": "SPEF2_RAT",
            "refseq_ac": "NP_001401938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sperm flagella and cilia-associated protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Protein KPL2",
                    "type": "synonym"
                },
                {
                    "name": "Sperm flagellar protein 2",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar 2",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar protein 2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar protein 2-like",
                    "type": "synonym"
                },
                {
                    "name": "sperm flagellar protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spef2",
                    "type": "recommended"
                },
                {
                    "name": "Kpl2",
                    "type": "synonym"
                },
                {
                    "name": "Spef2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R095-1",
            "evidence": [
                {
                    "id": "0111917",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111917"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111917"
}