{
    "disease_id": "DOID:0070569",
    "recommended_name": {
        "id": "DOID:0070569",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070569",
        "name": "spermatogenic failure 70",
        "description": "A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070569",
            "name": "SPGF70",
            "description": ""
        },
        {
            "id": "MONDO:0030733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030733",
            "name": "spermatogenic failure 70",
            "description": ""
        },
        {
            "id": "MONDO:0030733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030733",
            "name": "SPGF70",
            "description": ""
        },
        {
            "id": "MONDO:0030733",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030733",
            "name": "spermatogenic failure 70",
            "description": ""
        },
        {
            "id": "MIM:619828",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619828",
            "name": "Spermatogenic failure 70",
            "description": "Spermatogenic failure 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070569"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070569",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070569",
            "categories": []
        },
        {
            "id": "MONDO:0030733",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030733",
            "categories": []
        },
        {
            "id": "MIM:619828",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619828",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35487-1",
            "uniprot_ac": "P35487",
            "uniprot_id": "ODPAT_MOUSE",
            "refseq_ac": "NP_032837",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.1",
                    "type": "synonym"
                },
                {
                    "name": "PDHE1-A type II",
                    "type": "synonym"
                },
                {
                    "name": "PYRUVATE DEHYDROGENASE E1 COMPONENT ALPHA SUBUNIT, TESTIS-SPECIFIC FORM, MITOCHONDRIAL PRECURSOR (PDHE1-A TYPE II)",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdha2",
                    "type": "recommended"
                },
                {
                    "name": "Pdha-2",
                    "type": "synonym"
                },
                {
                    "name": "Pdha2",
                    "type": "synonym"
                },
                {
                    "name": "Pdhal",
                    "type": "synonym"
                }
            ],
            "record_id": "P35487-1",
            "evidence": [
                {
                    "id": "0070569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29803-1",
            "uniprot_ac": "P29803",
            "uniprot_id": "ODPAT_HUMAN",
            "refseq_ac": "NP_005381",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.1",
                    "type": "synonym"
                },
                {
                    "name": "PDHE1-A type II",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase (lipoamide) alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 alpha 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase, E1-alpha polypeptide, testis specific",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDHA2",
                    "type": "recommended"
                },
                {
                    "name": "PDHA2",
                    "type": "synonym"
                },
                {
                    "name": "PDHAL",
                    "type": "synonym"
                },
                {
                    "name": "SPGF70",
                    "type": "synonym"
                }
            ],
            "record_id": "P29803-1",
            "evidence": [
                {
                    "id": "619828",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619828"
                },
                {
                    "id": "0070569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16387-1",
            "uniprot_ac": "P16387",
            "uniprot_id": "ODPA_YEAST",
            "refseq_ac": "NP_011105",
            "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": "Pyruvate dehydrogenase E1 component subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.1",
                    "type": "synonym"
                },
                {
                    "name": "PDHE1-A",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase complex component E1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase (acetyl-transferring) subunit E1 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDA1",
                    "type": "recommended"
                },
                {
                    "name": "PDA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P16387-1",
            "evidence": [
                {
                    "id": "0070569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06437-1",
            "uniprot_ac": "Q06437",
            "uniprot_id": "ODPAT_RAT",
            "refseq_ac": "NP_446446",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.1",
                    "type": "synonym"
                },
                {
                    "name": "PDHE1-A type II",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase (lipoamide) alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 alpha 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdha2",
                    "type": "recommended"
                },
                {
                    "name": "Pdha2",
                    "type": "synonym"
                },
                {
                    "name": "Pdhal",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06437-1",
            "evidence": [
                {
                    "id": "0070569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4H4-1",
            "uniprot_ac": "Q9W4H4",
            "uniprot_id": "Q9W4H4_DROME",
            "refseq_ac": "NP_572182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyruvate dehydrogenase E1 component subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.1",
                    "type": "synonym"
                },
                {
                    "name": "CG7024-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdha2",
                    "type": "recommended"
                },
                {
                    "name": "CG7024",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7024",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7024",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4H4-1",
            "evidence": [
                {
                    "id": "0070569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVX1-1",
            "uniprot_ac": "Q7KVX1",
            "uniprot_id": "Q7KVX1_DROME",
            "refseq_ac": "NP_726945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pyruvate dehydrogenase E1 component subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.1",
                    "type": "synonym"
                },
                {
                    "name": "CG7010-PC",
                    "type": "synonym"
                },
                {
                    "name": "PDH complex",
                    "type": "synonym"
                },
                {
                    "name": "Pdha-PC",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0334",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0334",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase E1 alpha subunit, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdha1",
                    "type": "recommended"
                },
                {
                    "name": "CG 7010",
                    "type": "synonym"
                },
                {
                    "name": "CG7010",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7010",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7010",
                    "type": "synonym"
                },
                {
                    "name": "E1-PDH",
                    "type": "synonym"
                },
                {
                    "name": "L(1)G0334",
                    "type": "synonym"
                },
                {
                    "name": "L(1)g0334",
                    "type": "synonym"
                },
                {
                    "name": "PDH-E1",
                    "type": "synonym"
                },
                {
                    "name": "PDHA1",
                    "type": "synonym"
                },
                {
                    "name": "PDHE1",
                    "type": "synonym"
                },
                {
                    "name": "PDHalpha",
                    "type": "synonym"
                },
                {
                    "name": "PDH",
                    "type": "synonym"
                },
                {
                    "name": "Pdha[KK101856]",
                    "type": "synonym"
                },
                {
                    "name": "Pdha",
                    "type": "synonym"
                },
                {
                    "name": "Pdh",
                    "type": "synonym"
                },
                {
                    "name": "l (1) G0334",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0334",
                    "type": "synonym"
                },
                {
                    "name": "pdha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVX1-1",
            "evidence": [
                {
                    "id": "0070569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070569"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070569"
}