{
    "disease_id": "DOID:0111930",
    "recommended_name": {
        "id": "DOID:0111930",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111930",
        "name": "spermatogenic failure 29",
        "description": "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111930",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111930",
            "name": "SPGF29",
            "description": ""
        },
        {
            "id": "MONDO:0054733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054733",
            "name": "spermatogenic failure 29",
            "description": ""
        },
        {
            "id": "MONDO:0054733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054733",
            "name": "spermatogenic failure 29",
            "description": ""
        },
        {
            "id": "MONDO:0054733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054733",
            "name": "SPGF29",
            "description": ""
        },
        {
            "id": "MIM:618091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618091",
            "name": "Spermatogenic failure 29",
            "description": "Spermatogenic failure 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111930"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111930",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111930",
            "categories": []
        },
        {
            "id": "MONDO:0054733",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054733",
            "categories": []
        },
        {
            "id": "MIM:618091",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618091",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IF19-1",
            "uniprot_ac": "A0A0R4IF19",
            "uniprot_id": "A0A0R4IF19_DANRE",
            "refseq_ac": "NP_001373551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine peptidase inhibitor, Kazal type 2, tandem duplicate 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine peptidase inhibitor, Kazal type 2, tandem duplicate 5 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spink2.5",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-203a12.8",
                    "type": "synonym"
                },
                {
                    "name": "spink2.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IF19-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IW50-1",
            "uniprot_ac": "A0A0R4IW50",
            "uniprot_id": "A0A0R4IW50_DANRE",
            "refseq_ac": "NP_001373549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC100537819 precursor",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC100537819 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spink2.7",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-203a12.2",
                    "type": "synonym"
                },
                {
                    "name": "spink2.7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IW50-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IIR6-1",
            "uniprot_ac": "A0A0R4IIR6",
            "uniprot_id": "A0A0R4IIR6_DANRE",
            "refseq_ac": "NP_001185680",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease inhibitor Kazal-type 2.1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2.1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spink2.1",
                    "type": "recommended"
                },
                {
                    "name": "spink2.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158852",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IIR6-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IFD2-1",
            "uniprot_ac": "A0A0R4IFD2",
            "uniprot_id": "A0A0R4IFD2_DANRE",
            "refseq_ac": "NP_001373436",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine peptidase inhibitor, Kazal type 2, tandem duplicate 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine peptidase inhibitor, Kazal type 2, tandem duplicate 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spink2.2",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-77g12.1",
                    "type": "synonym"
                },
                {
                    "name": "spink2.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IFD2-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IN12-1",
            "uniprot_ac": "A0A0R4IN12",
            "uniprot_id": "A0A0R4IN12_DANRE",
            "refseq_ac": "XP_003199924",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ovomucoid",
                    "type": "synonym"
                },
                {
                    "name": "ovomucoid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spink2.4",
                    "type": "recommended"
                },
                {
                    "name": "spink2.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IN12-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IEA1-1",
            "uniprot_ac": "A0A0R4IEA1",
            "uniprot_id": "A0A0R4IEA1_DANRE",
            "refseq_ac": "XP_005157264",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ovomucoid",
                    "type": "synonym"
                },
                {
                    "name": "ovomucoid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spink2.3",
                    "type": "recommended"
                },
                {
                    "name": "spink2.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IEA1-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BMY7-1",
            "uniprot_ac": "Q8BMY7",
            "uniprot_id": "ISK2_MOUSE",
            "refseq_ac": "NP_001276697",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease inhibitor Kazal-type 2",
                    "type": "recommended"
                },
                {
                    "name": "acrosin-trypsin inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2 isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spink2",
                    "type": "recommended"
                },
                {
                    "name": "1700007F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "HUSI-II",
                    "type": "synonym"
                },
                {
                    "name": "Spink2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BMY7-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20155-1",
            "uniprot_ac": "P20155",
            "uniprot_id": "ISK2_HUMAN",
            "refseq_ac": "NP_001258651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease inhibitor Kazal-type 2",
                    "type": "recommended"
                },
                {
                    "name": "Acrosin-trypsin inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "Epididymis tissue protein Li 172",
                    "type": "synonym"
                },
                {
                    "name": "HUSI-II",
                    "type": "synonym"
                },
                {
                    "name": "epididymis tissue protein Li 172",
                    "type": "synonym"
                },
                {
                    "name": "serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2 isoform 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPINK2",
                    "type": "recommended"
                },
                {
                    "name": "HUSI-II",
                    "type": "synonym"
                },
                {
                    "name": "SPGF29",
                    "type": "synonym"
                },
                {
                    "name": "SPINK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P20155-1",
            "evidence": [
                {
                    "id": "618091",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618091"
                },
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IE49-1",
            "uniprot_ac": "Q6IE49",
            "uniprot_id": "ISK2_RAT",
            "refseq_ac": "NP_001008870",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease inhibitor Kazal-type 2",
                    "type": "recommended"
                },
                {
                    "name": "Kazal type serine protease inhibitor 2",
                    "type": "synonym"
                },
                {
                    "name": "serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2-like",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type 2",
                    "type": "synonym"
                },
                {
                    "name": "serine protease inhibitor Kazal-type2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spink2",
                    "type": "recommended"
                },
                {
                    "name": "Spink2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IE49-1",
            "evidence": [
                {
                    "id": "0111930",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111930"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111930"
}