{
    "disease_id": "DOID:0111927",
    "recommended_name": {
        "id": "DOID:0111927",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111927",
        "name": "spermatogenic failure 37",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111927",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111927",
            "name": "SPGF37",
            "description": ""
        },
        {
            "id": "MONDO:0032744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032744",
            "name": "spermatogenic failure 37",
            "description": ""
        },
        {
            "id": "MONDO:0032744",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032744",
            "name": "SPGF37",
            "description": ""
        },
        {
            "id": "MIM:618429",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618429",
            "name": "Spermatogenic failure 37",
            "description": "Spermatogenic failure 37"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111927"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111927",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111927",
            "categories": []
        },
        {
            "id": "MONDO:0032744",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032744",
            "categories": []
        },
        {
            "id": "MIM:618429",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618429",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P6A7-1",
            "uniprot_ac": "A0A8M9P6A7",
            "uniprot_id": "A0A8M9P6A7_DANRE",
            "refseq_ac": "XP_073797333",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 21A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttc21a",
                    "type": "recommended"
                },
                {
                    "name": "ttc21a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P6A7-1",
            "evidence": [
                {
                    "id": "0111927",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111927"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C0S4-1",
            "uniprot_ac": "Q8C0S4",
            "uniprot_id": "TT21A_MOUSE",
            "refseq_ac": "NP_083011",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 21A",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 21A",
                    "type": "synonym"
                },
                {
                    "name": "Tetratricopeptide repeat-containing hedgehog modulator 2",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21A",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat-containing hedgehog modulator 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc21a",
                    "type": "recommended"
                },
                {
                    "name": "4921538N17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Thm2",
                    "type": "synonym"
                },
                {
                    "name": "Ttc21a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C0S4-1",
            "evidence": [
                {
                    "id": "0111927",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111927"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NDW8-1",
            "uniprot_ac": "Q8NDW8",
            "uniprot_id": "TT21A_HUMAN",
            "refseq_ac": "NP_001098983",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 21A",
                    "type": "recommended"
                },
                {
                    "name": "Stress-inducible protein 2",
                    "type": "synonym"
                },
                {
                    "name": "TPR domain containing STI2",
                    "type": "synonym"
                },
                {
                    "name": "TPR repeat protein 21A",
                    "type": "synonym"
                },
                {
                    "name": "stress-inducible protein 2",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 212",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTC21A",
                    "type": "recommended"
                },
                {
                    "name": "IFT139A",
                    "type": "synonym"
                },
                {
                    "name": "SPGF37",
                    "type": "synonym"
                },
                {
                    "name": "STI2",
                    "type": "synonym"
                },
                {
                    "name": "TTC21A",
                    "type": "synonym"
                },
                {
                    "name": "Thm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NDW8-1",
            "evidence": [
                {
                    "id": "618429",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618429"
                },
                {
                    "id": "0111927",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111927"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A5K9-1",
            "uniprot_ac": "A0A8I6A5K9",
            "uniprot_id": "A0A8I6A5K9_RAT",
            "refseq_ac": "NP_001416366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat domain 21A",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat domain 21A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat domain 21A, pseudogene 1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 21A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc21a",
                    "type": "recommended"
                },
                {
                    "name": "RGD1308806",
                    "type": "synonym"
                },
                {
                    "name": "Ttc21a-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Ttc21a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A5K9-1",
            "evidence": [
                {
                    "id": "0111927",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111927"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111927"
}
