{
    "disease_id": "DOID:0112163",
    "recommended_name": {
        "id": "DOID:0112163",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112163",
        "name": "spermatogenic failure 45",
        "description": "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112163",
            "name": "SPGF45",
            "description": ""
        },
        {
            "id": "MONDO:0033671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033671",
            "name": "spermatogenic failure 45",
            "description": ""
        },
        {
            "id": "MONDO:0033671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033671",
            "name": "SPGF45",
            "description": ""
        },
        {
            "id": "MIM:619094",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619094",
            "name": "Spermatogenic failure 45",
            "description": "Spermatogenic failure 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112163"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112163",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112163",
            "categories": []
        },
        {
            "id": "MONDO:0033671",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033671",
            "categories": []
        },
        {
            "id": "MIM:619094",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619094",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7Q1-1",
            "uniprot_ac": "A0ACD6B7Q1",
            "uniprot_id": "A0ACD6B7Q1_DANRE",
            "refseq_ac": "XP_009301399",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnah2",
                    "type": "recommended"
                },
                {
                    "name": "dnah2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7Q1-1",
            "evidence": [
                {
                    "id": "0112163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C6F1-1",
            "uniprot_ac": "P0C6F1",
            "uniprot_id": "DYH2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah2",
                    "type": "recommended"
                },
                {
                    "name": "Dnahc2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C6F1-1",
            "evidence": [
                {
                    "id": "0112163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P225-1",
            "uniprot_ac": "Q9P225",
            "uniprot_id": "DYH2_HUMAN",
            "refseq_ac": "NP_001290199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Dynein heavy chain domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH2",
                    "type": "recommended"
                },
                {
                    "name": "DNAH2",
                    "type": "synonym"
                },
                {
                    "name": "DNAHC2",
                    "type": "synonym"
                },
                {
                    "name": "DNHD3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1503",
                    "type": "synonym"
                },
                {
                    "name": "SPGF45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P225-1",
            "evidence": [
                {
                    "id": "619094",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619094"
                },
                {
                    "id": "0112163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JYL5-1",
            "uniprot_ac": "A0A0G2JYL5",
            "uniprot_id": "A0A0G2JYL5_RAT",
            "refseq_ac": "NP_001094146",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 2, axonemal-like",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 2, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah2",
                    "type": "recommended"
                },
                {
                    "name": "DLP2",
                    "type": "synonym"
                },
                {
                    "name": "Dnah2",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc2",
                    "type": "synonym"
                },
                {
                    "name": "axo f",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JYL5-1",
            "evidence": [
                {
                    "id": "0112163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64602-1",
            "uniprot_ac": "Q64602",
            "uniprot_id": "AADAT_RAT",
            "refseq_ac": "NP_058889",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2-aminoadipate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "2-aminoadipate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.39",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.4",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.63",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.73",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.7",
                    "type": "synonym"
                },
                {
                    "name": "AadAT",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-aminoadipate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine transaminase AADAT",
                    "type": "synonym"
                },
                {
                    "name": "KAT/AadAT",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine aminotransferase II",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--glyoxylate transaminase AADAT",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate aminotransferase II",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Kynurenine--oxoglutarate transaminase II",
                    "type": "synonym"
                },
                {
                    "name": "Methionine--glyoxylate transaminase AADAT",
                    "type": "synonym"
                },
                {
                    "name": "alpha-aminoadipate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycine transaminase AADAT",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine aminotransferase II",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--glyoxylate transaminase AADAT",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate aminotransferase II",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine--oxoglutarate transaminase II",
                    "type": "synonym"
                },
                {
                    "name": "kynurenine/alpha-aminoadipate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "methionine--glyoxylate transaminase AADAT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aadat",
                    "type": "recommended"
                },
                {
                    "name": "Aadat",
                    "type": "synonym"
                },
                {
                    "name": "Kat2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64602-1",
            "evidence": [
                {
                    "id": "0112163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112163"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112163"
}