{
    "disease_id": "DOID:0111922",
    "recommended_name": {
        "id": "DOID:0111922",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111922",
        "name": "spermatogenic failure 31",
        "description": "A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111922",
            "name": "SPGF31",
            "description": ""
        },
        {
            "id": "MONDO:0020852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020852",
            "name": "spermatogenic failure 31",
            "description": ""
        },
        {
            "id": "MONDO:0020852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020852",
            "name": "SPGF31",
            "description": ""
        },
        {
            "id": "MONDO:0020852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020852",
            "name": "spermatogenic failure 31",
            "description": ""
        },
        {
            "id": "MIM:618112",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618112",
            "name": "Spermatogenic failure 31",
            "description": "Spermatogenic failure 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111922"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111922",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111922",
            "categories": []
        },
        {
            "id": "MONDO:0020852",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020852",
            "categories": []
        },
        {
            "id": "MIM:618112",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618112",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WVQ0-1",
            "uniprot_ac": "Q9WVQ0",
            "uniprot_id": "PMFBP_MOUSE",
            "refseq_ac": "NP_064322",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyamine-modulated factor 1-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PMF-1-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Sperm tail-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "polyamine-modulated factor 1-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sperm tail-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmfbp1",
                    "type": "recommended"
                },
                {
                    "name": "1700016D22Rik",
                    "type": "synonym"
                },
                {
                    "name": "F77",
                    "type": "synonym"
                },
                {
                    "name": "Pmfbp1",
                    "type": "synonym"
                },
                {
                    "name": "Stap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVQ0-1",
            "evidence": [
                {
                    "id": "0111922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TBY8-2",
            "uniprot_ac": "Q8TBY8",
            "uniprot_id": "PMFBP_HUMAN",
            "refseq_ac": "NP_001153685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyamine-modulated factor 1-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PMF-1 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "PMF-1-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "polyamine-modulated factor 1-binding protein 1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMFBP1",
                    "type": "recommended"
                },
                {
                    "name": "PMFBP1",
                    "type": "synonym"
                },
                {
                    "name": "SPGF31",
                    "type": "synonym"
                },
                {
                    "name": "STAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TBY8-2",
            "evidence": [
                {
                    "id": "618112",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618112"
                },
                {
                    "id": "0111922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z221-1",
            "uniprot_ac": "Q9Z221",
            "uniprot_id": "PMFBP_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": "Polyamine-modulated factor 1-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Outer dense fiber protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PMF-1-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmfbp1",
                    "type": "recommended"
                },
                {
                    "name": "Odf3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z221-1",
            "evidence": [
                {
                    "id": "0111922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111922"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111922"
}