{
    "disease_id": "DOID:0112164",
    "recommended_name": {
        "id": "DOID:0112164",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112164",
        "name": "spermatogenic failure 46",
        "description": "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112164",
            "name": "SPGF46",
            "description": ""
        },
        {
            "id": "MONDO:0033673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033673",
            "name": "spermatogenic failure 46",
            "description": ""
        },
        {
            "id": "MONDO:0033673",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033673",
            "name": "SPGF46",
            "description": ""
        },
        {
            "id": "MIM:619095",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619095",
            "name": "Spermatogenic failure 46",
            "description": "Spermatogenic failure 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112164"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112164",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112164",
            "categories": []
        },
        {
            "id": "MONDO:0033673",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033673",
            "categories": []
        },
        {
            "id": "MIM:619095",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619095",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91XQ0-1",
            "uniprot_ac": "Q91XQ0",
            "uniprot_id": "DYH8_MOUSE",
            "refseq_ac": "NP_038839",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein heavy chain 8 Dnahc8",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 8, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axon, heavy chain 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah8",
                    "type": "recommended"
                },
                {
                    "name": "ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Dnah8",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc8",
                    "type": "synonym"
                },
                {
                    "name": "Hst6.7b",
                    "type": "synonym"
                },
                {
                    "name": "P1-Loop",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XQ0-1",
            "evidence": [
                {
                    "id": "0112164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96JB1-1",
            "uniprot_ac": "Q96JB1",
            "uniprot_id": "DYH8_HUMAN",
            "refseq_ac": "NP_001193856",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 8, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH8",
                    "type": "recommended"
                },
                {
                    "name": "ATPase",
                    "type": "synonym"
                },
                {
                    "name": "DNAH8",
                    "type": "synonym"
                },
                {
                    "name": "SPGF46",
                    "type": "synonym"
                },
                {
                    "name": "hdhc9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96JB1-1",
            "evidence": [
                {
                    "id": "619095",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619095"
                },
                {
                    "id": "0112164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAM6-1",
            "uniprot_ac": "F1MAM6",
            "uniprot_id": "F1MAM6_RAT",
            "refseq_ac": "NP_001414021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atpase",
                    "type": "synonym"
                },
                {
                    "name": "Dynein, axonemal, heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 8, axonemal-like",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 8, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axon, heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 8",
                    "type": "synonym"
                },
                {
                    "name": "dynein-like protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah8",
                    "type": "recommended"
                },
                {
                    "name": "Dlp8",
                    "type": "synonym"
                },
                {
                    "name": "Dnah8",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc8",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAM6-1",
            "evidence": [
                {
                    "id": "0112164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15385-1",
            "uniprot_ac": "P15385",
            "uniprot_id": "KCNA4_RAT",
            "refseq_ac": "NP_037103",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "RCK4",
                    "type": "synonym"
                },
                {
                    "name": "RHK1",
                    "type": "synonym"
                },
                {
                    "name": "RK3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker related subfamily A, member 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, member 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcna4",
                    "type": "recommended"
                },
                {
                    "name": "KCHAN",
                    "type": "synonym"
                },
                {
                    "name": "Kcna4",
                    "type": "synonym"
                },
                {
                    "name": "Kv1.4",
                    "type": "synonym"
                },
                {
                    "name": "Kv4",
                    "type": "synonym"
                },
                {
                    "name": "RHK1",
                    "type": "synonym"
                },
                {
                    "name": "RK3",
                    "type": "synonym"
                }
            ],
            "record_id": "P15385-1",
            "evidence": [
                {
                    "id": "0112164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LH20-1",
            "uniprot_ac": "A0A0B4LH20",
            "uniprot_id": "A0A0B4LH20_DROME",
            "refseq_ac": "NP_001287256",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9492-PG",
                    "type": "synonym"
                },
                {
                    "name": "Dhc1-PG",
                    "type": "synonym"
                },
                {
                    "name": "Dynein heavy chain 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 1, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhc1",
                    "type": "recommended"
                },
                {
                    "name": "CG9492",
                    "type": "synonym"
                },
                {
                    "name": "DHC3B",
                    "type": "synonym"
                },
                {
                    "name": "Dhc1",
                    "type": "synonym"
                },
                {
                    "name": "DmDhc1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9492",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9492",
                    "type": "synonym"
                },
                {
                    "name": "Dnah5",
                    "type": "synonym"
                },
                {
                    "name": "dnah5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LH20-1",
            "evidence": [
                {
                    "id": "0112164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112164"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112164"
}