{
    "disease_id": "DOID:0070728",
    "recommended_name": {
        "id": "DOID:0070728",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070728",
        "name": "spermatogenic failure 99",
        "description": "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced sperm progressive motility, sperm with a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath that has_material_basis_in homozygous mutation in the SEPTIN4 gene (603696) on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070728",
            "name": "SPGF99",
            "description": ""
        },
        {
            "id": "MONDO:0978297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0978297",
            "name": "spermatogenic failure 99",
            "description": ""
        },
        {
            "id": "MIM:621194",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621194",
            "name": "Spermatogenic failure 99",
            "description": "Spermatogenic failure 99"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070728"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070728",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070728",
            "categories": []
        },
        {
            "id": "MONDO:0978297",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0978297",
            "categories": []
        },
        {
            "id": "MIM:621194",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621194",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O43236-7",
            "uniprot_ac": "O43236",
            "uniprot_id": "SEPT4_HUMAN",
            "refseq_ac": "NP_001185642",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Septin-4",
                    "type": "recommended"
                },
                {
                    "name": "Bradeion beta",
                    "type": "synonym"
                },
                {
                    "name": "Brain protein H5",
                    "type": "synonym"
                },
                {
                    "name": "CE5B3 beta",
                    "type": "synonym"
                },
                {
                    "name": "Cell division control-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Peanut-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-related protein in the TGF-beta signaling pathway",
                    "type": "synonym"
                },
                {
                    "name": "bradeion beta",
                    "type": "synonym"
                },
                {
                    "name": "brain protein H5",
                    "type": "synonym"
                },
                {
                    "name": "cell division control-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cerebral protein 7",
                    "type": "synonym"
                },
                {
                    "name": "hCDCREL-2",
                    "type": "synonym"
                },
                {
                    "name": "peanut-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "septin-4 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "septin-M",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C17orf47",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEPTIN4",
                    "type": "recommended"
                },
                {
                    "name": "ARTS",
                    "type": "synonym"
                },
                {
                    "name": "BRADEION",
                    "type": "synonym"
                },
                {
                    "name": "C17orf47",
                    "type": "synonym"
                },
                {
                    "name": "CE5B3",
                    "type": "synonym"
                },
                {
                    "name": "H5",
                    "type": "synonym"
                },
                {
                    "name": "MART",
                    "type": "synonym"
                },
                {
                    "name": "PNUTL2",
                    "type": "synonym"
                },
                {
                    "name": "SEP4",
                    "type": "synonym"
                },
                {
                    "name": "SEPT4",
                    "type": "synonym"
                },
                {
                    "name": "SEPTIN4",
                    "type": "synonym"
                },
                {
                    "name": "SPGF99",
                    "type": "synonym"
                },
                {
                    "name": "Septin-4",
                    "type": "synonym"
                },
                {
                    "name": "hCDCREL-2",
                    "type": "synonym"
                },
                {
                    "name": "hucep-7",
                    "type": "synonym"
                }
            ],
            "record_id": "O43236-7",
            "evidence": [
                {
                    "id": "621194",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621194"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070728"
}