{
    "disease_id": "DOID:0070165",
    "recommended_name": {
        "id": "DOID:0070165",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070165",
        "name": "spermatogenic failure 18",
        "description": "A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070165",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070165",
            "name": "SPGF18",
            "description": ""
        },
        {
            "id": "MONDO:0054615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054615",
            "name": "spermatogenic failure 18",
            "description": ""
        },
        {
            "id": "MONDO:0054615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054615",
            "name": "spermatogenic failure 18",
            "description": ""
        },
        {
            "id": "MONDO:0054615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054615",
            "name": "SPGF18",
            "description": ""
        },
        {
            "id": "MIM:617576",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617576",
            "name": "Spermatogenic failure 18",
            "description": "Spermatogenic failure 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070165"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070165",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070165",
            "categories": []
        },
        {
            "id": "MONDO:0054615",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054615",
            "categories": []
        },
        {
            "id": "MIM:617576",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617576",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9Q8T7-1",
            "uniprot_ac": "E9Q8T7",
            "uniprot_id": "DYH1_MOUSE",
            "refseq_ac": "NP_001028840",
            "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 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 1; dynein, axon, heavy chain 1; ciliary dynein heavy chain 1; axonemal beta dynein heavy chain 1; dynein heavy chain 1, axonemal",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "mDHC7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "B230373P09Rik; Dnahc1; E030034C22Rik; ferf1; G1-415-19; MDHC7",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dhc7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dnah1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070165",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2D7-4",
            "uniprot_ac": "Q9P2D7",
            "uniprot_id": "DYH1_HUMAN",
            "refseq_ac": "NP_056327",
            "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 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HSRF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock regulated protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 1, axonemal; dynein, axonemal, heavy polypeptide 1; ciliary dynein heavy chain 1; heat shock regulated protein 1; axonemal beta dynein heavy chain 1; testicular tissue protein Li 60",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hDHC7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CILD37; DNAHC1; HDHC7; HL-11; HL11; HSRF-1; SPGF18; XLHSRF-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DHC7",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DNAH1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DNAHC1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1410",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070165",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070165"
                },
                {
                    "id": "617576",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AXS6-1",
            "uniprot_ac": "A0A8M3AXS6",
            "uniprot_id": "A0A8M3AXS6_DANRE",
            "refseq_ac": "XP_009304459",
            "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 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnah1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "dnah1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070165",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63164-1",
            "uniprot_ac": "Q63164",
            "uniprot_id": "DYH1_RAT",
            "refseq_ac": "NP_001028827",
            "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 1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 1, axonemal; ciliary dynein heavy chain 1; axonemal beta dynein heavy chain 1; dynein, axonemal, heavy polypeptide 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Dlp1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dnah1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dnahc1; RGD1311110",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070165",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070165"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63272-1",
            "uniprot_ac": "Q63272",
            "uniprot_id": "JAK3_RAT",
            "refseq_ac": "NP_036987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase JAK3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "JAK-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 3, protein-tyrosine kinase; JAK-3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Janus kinase 3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase JAK3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jak3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Insl3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Jak3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RATJAK3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0070165",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070165"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070165"
}