{
    "disease_id": "DOID:0070184",
    "recommended_name": {
        "id": "DOID:0070184",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070184",
        "name": "spermatogenic failure 16",
        "description": "A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070184",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070184",
            "name": "SPGF16",
            "description": ""
        },
        {
            "id": "DOID:0070184",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070184",
            "name": "acephalic spermatozoa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "spermatogenic failure 16",
            "description": "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene."
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "SPGF16",
            "description": ""
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "SUN5 azoospermia",
            "description": ""
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "azoospermia caused by mutation in SUN5",
            "description": ""
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "spermatogenic failure 16",
            "description": ""
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "spermatogenic failure 16; SPGF16",
            "description": ""
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "spermatogenic failure type 16",
            "description": ""
        },
        {
            "id": "MONDO:0014961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "name": "acephalic spermatozoa syndrome",
            "description": ""
        },
        {
            "id": "MIM:617187",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617187",
            "name": "Spermatogenic failure 16",
            "description": "Spermatogenic failure 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070184"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070184",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070184",
            "categories": []
        },
        {
            "id": "MONDO:0014961",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014961",
            "categories": []
        },
        {
            "id": "MIM:617187",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617187",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VKG2-1",
            "uniprot_ac": "Q9VKG2",
            "uniprot_id": "Q9VKG2_DROME",
            "refseq_ac": "NP_609510",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6589-PB; spag4-PB; giacomo",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Sperm-associated antigen 4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "sperm-associated antigen 4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spag4",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG6589; Dmel\\CG6589; dspag; Dspag4; giac; Spag4",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG6589",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6589",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6589",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dspag4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Spag4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dspag",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "giac",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "spag4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070184",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070184"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DA32-1",
            "uniprot_ac": "Q9DA32",
            "uniprot_id": "SUN5_MOUSE",
            "refseq_ac": "NP_001291977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing protein 5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "SUN domain-containing protein 5 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Sperm-associated antigen 4-like protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "sperm-associated antigen 4-like protein; SUN domain-containing protein 5; spermatogenesis-related gene 4",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sun5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1700021O15Rik; Spag4l; SPAG4L-2; SRG4",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Spag4l",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Sun5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070184",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070184"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TC36-1",
            "uniprot_ac": "Q8TC36",
            "uniprot_id": "SUN5_HUMAN",
            "refseq_ac": "NP_542406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing protein 5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "SUN domain-containing protein 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Sad1 and UNC84 domain-containing protein 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Sperm-associated antigen 4-like protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Testis and spermatogenesis-related gene 4 protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "testis and spermatogenesis related gene 4; sperm-associated antigen 4-like protein; sad1 and UNC84 domain-containing protein 5; testis and spermatogenesis-related gene 4 protein; epididymis secretory sperm binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SUN5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "SPAG4L",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SUN5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TSARG4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dJ726C3.1; SPAG4L; SPGF16; TSARG4",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hCG_37630",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070184",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070184"
                },
                {
                    "id": "617187",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617187"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KBB4-1",
            "uniprot_ac": "A0A0G2KBB4",
            "uniprot_id": "A0A0G2KBB4_RAT",
            "refseq_ac": "NP_001402614",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing protein 5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Sad1 and UNC84 domain containing 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sun5",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Spag4l",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Sun5",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070184",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070184"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070184"
}