{
    "disease_id": "DOID:0061177",
    "recommended_name": {
        "id": "DOID:0061177",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061177",
        "name": "X-linked spermatogenic failure 9",
        "description": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "MONDO:0976123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976123",
            "name": "spermatogenic failure, X-linked, 9",
            "description": ""
        },
        {
            "id": "MIM:301137",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301137",
            "name": "Spermatogenic failure, X-linked, 9",
            "description": "Spermatogenic failure, X-linked, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061177"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061177",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061177",
            "categories": []
        },
        {
            "id": "MONDO:0976123",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976123",
            "categories": []
        },
        {
            "id": "MIM:301137",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301137",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZTY4-1",
            "uniprot_ac": "Q7ZTY4",
            "uniprot_id": "RBBP7_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-binding protein RBBP7",
                    "type": "recommended"
                },
                {
                    "name": "RBBP-7",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rbbp7",
                    "type": "recommended"
                },
                {
                    "name": "Caf1",
                    "type": "synonym"
                },
                {
                    "name": "rbb4l",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa13g08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb50h10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc29d09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56477",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85617",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZTY4-1",
            "evidence": [
                {
                    "id": "0061177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60973-1",
            "uniprot_ac": "Q60973",
            "uniprot_id": "RBBP7_MOUSE",
            "refseq_ac": "NP_033057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-binding protein RBBP7",
                    "type": "recommended"
                },
                {
                    "name": "G1/S transition control protein-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Histone acetyltransferase type B subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleosome-remodeling factor subunit RBAP46",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-7",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein p46",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase type B subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "histone-binding protein RBBP7",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome-remodeling factor subunit RBAP46",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein p46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbbp7",
                    "type": "recommended"
                },
                {
                    "name": "Rbap46",
                    "type": "synonym"
                },
                {
                    "name": "Rbbp7",
                    "type": "synonym"
                },
                {
                    "name": "mRbAp46",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60973-1",
            "evidence": [
                {
                    "id": "0061177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16576-1",
            "uniprot_ac": "Q16576",
            "uniprot_id": "RBBP7_HUMAN",
            "refseq_ac": "NP_001185648",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-binding protein RBBP7",
                    "type": "recommended"
                },
                {
                    "name": "G1/S transition control protein-binding protein RbAp46",
                    "type": "synonym"
                },
                {
                    "name": "Histone acetyltransferase type B subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleosome-remodeling factor subunit RBAP46",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-7",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein p46",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase type B subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "histone-binding protein RBBP7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-binding protein RBBP7",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome-remodeling factor subunit RBAP46",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein RbAp46",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein p46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBBP7",
                    "type": "recommended"
                },
                {
                    "name": "RBAP46",
                    "type": "synonym"
                },
                {
                    "name": "RBBP7",
                    "type": "synonym"
                },
                {
                    "name": "RbAp46",
                    "type": "synonym"
                },
                {
                    "name": "SPGFX9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16576-1",
            "evidence": [
                {
                    "id": "301137",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301137"
                },
                {
                    "id": "0061177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39984-1",
            "uniprot_ac": "P39984",
            "uniprot_id": "HAT2_YEAST",
            "refseq_ac": "NP_010858",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone acetyltransferase type B subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "Hat2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HAT2",
                    "type": "recommended"
                },
                {
                    "name": "HAT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P39984-1",
            "evidence": [
                {
                    "id": "0061177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q71UF4-1",
            "uniprot_ac": "Q71UF4",
            "uniprot_id": "RBBP7_RAT",
            "refseq_ac": "NP_114004",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-binding protein RBBP7",
                    "type": "recommended"
                },
                {
                    "name": "Nucleosome-remodeling factor subunit RBAP46",
                    "type": "synonym"
                },
                {
                    "name": "RBBP-7",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "histone-binding protein RBBP7",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome-remodeling factor subunit RBAP46",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbbp4",
                    "type": "recommended"
                },
                {
                    "name": "Rbbp7",
                    "type": "recommended"
                },
                {
                    "name": "Rbbp4l1",
                    "type": "synonym"
                },
                {
                    "name": "Rbbp4",
                    "type": "synonym"
                },
                {
                    "name": "Rbbp7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q71UF4-1",
            "evidence": [
                {
                    "id": "0061177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061177"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24572-1",
            "uniprot_ac": "Q24572",
            "uniprot_id": "CAF1_DROME",
            "refseq_ac": "NP_524354",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromatin assembly factor 1 p55 subunit",
                    "type": "recommended"
                },
                {
                    "name": "CAF-1 p55 subunit",
                    "type": "synonym"
                },
                {
                    "name": "CAF-1",
                    "type": "synonym"
                },
                {
                    "name": "CG4236-PA",
                    "type": "synonym"
                },
                {
                    "name": "Caf1-55-PA",
                    "type": "synonym"
                },
                {
                    "name": "NURF-55",
                    "type": "synonym"
                },
                {
                    "name": "Nucleosome-remodeling factor 55 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Nurf55/CAF1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin assembly Factor-1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin assembly factor 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "chromatin assembly factor 1, p55 subunit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "chromatin associated factor-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "nucleosome remodeling factor - 55kD",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Caf1-55",
                    "type": "recommended"
                },
                {
                    "name": "154659_at",
                    "type": "synonym"
                },
                {
                    "name": "48",
                    "type": "synonym"
                },
                {
                    "name": "55",
                    "type": "synonym"
                },
                {
                    "name": "CAF-1 p55",
                    "type": "synonym"
                },
                {
                    "name": "CAF-1",
                    "type": "synonym"
                },
                {
                    "name": "CAF1-55",
                    "type": "synonym"
                },
                {
                    "name": "CAF1-p55",
                    "type": "synonym"
                },
                {
                    "name": "CAF1p55",
                    "type": "synonym"
                },
                {
                    "name": "CAF1",
                    "type": "synonym"
                },
                {
                    "name": "CG4236",
                    "type": "synonym"
                },
                {
                    "name": "Caf-1",
                    "type": "synonym"
                },
                {
                    "name": "Caf1 (p55)",
                    "type": "synonym"
                },
                {
                    "name": "Caf1-55",
                    "type": "synonym"
                },
                {
                    "name": "Caf1-p55",
                    "type": "synonym"
                },
                {
                    "name": "Caf1/p55",
                    "type": "synonym"
                },
                {
                    "name": "Caf1p55",
                    "type": "synonym"
                },
                {
                    "name": "Caf1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4236",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4236",
                    "type": "synonym"
                },
                {
                    "name": "LIN-53",
                    "type": "synonym"
                },
                {
                    "name": "MSI1/RbAp48/CAC3/LIN-53",
                    "type": "synonym"
                },
                {
                    "name": "NURF 55",
                    "type": "synonym"
                },
                {
                    "name": "NURF-55",
                    "type": "synonym"
                },
                {
                    "name": "NURF55",
                    "type": "synonym"
                },
                {
                    "name": "NURF",
                    "type": "synonym"
                },
                {
                    "name": "Nurf 55",
                    "type": "synonym"
                },
                {
                    "name": "Nurf-55",
                    "type": "synonym"
                },
                {
                    "name": "Nurf55",
                    "type": "synonym"
                },
                {
                    "name": "Nurf",
                    "type": "synonym"
                },
                {
                    "name": "P55",
                    "type": "synonym"
                },
                {
                    "name": "RBAP48",
                    "type": "synonym"
                },
                {
                    "name": "RbAp46/48",
                    "type": "synonym"
                },
                {
                    "name": "RbAp48",
                    "type": "synonym"
                },
                {
                    "name": "S(ls)3",
                    "type": "synonym"
                },
                {
                    "name": "caf-1",
                    "type": "synonym"
                },
                {
                    "name": "caf1 p55",
                    "type": "synonym"
                },
                {
                    "name": "caf1-55",
                    "type": "synonym"
                },
                {
                    "name": "caf1",
                    "type": "synonym"
                },
                {
                    "name": "d-CAF1",
                    "type": "synonym"
                },
                {
                    "name": "dCAF-1 p55",
                    "type": "synonym"
                },
                {
                    "name": "dCAF-1-p55",
                    "type": "synonym"
                },
                {
                    "name": "dCAF-1",
                    "type": "synonym"
                },
                {
                    "name": "dCAF1-p55",
                    "type": "synonym"
                },
                {
                    "name": "dCAF1",
                    "type": "synonym"
                },
                {
                    "name": "dNURF",
                    "type": "synonym"
                },
                {
                    "name": "dp55",
                    "type": "synonym"
                },
                {
                    "name": "nurf55",
                    "type": "synonym"
                },
                {
                    "name": "p55 CAF1",
                    "type": "synonym"
                },
                {
                    "name": "p55/NURF-55",
                    "type": "synonym"
                },
                {
                    "name": "p55CAF1",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24572-1",
            "evidence": [
                {
                    "id": "0061177",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061177"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061177"
}