{
    "disease_id": "DOID:0112175",
    "recommended_name": {
        "id": "DOID:0112175",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112175",
        "name": "spermatogenic failure 47",
        "description": "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112175",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112175",
            "name": "SPGF47",
            "description": ""
        },
        {
            "id": "MONDO:0030844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030844",
            "name": "spermatogenic failure 47",
            "description": ""
        },
        {
            "id": "MONDO:0030844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030844",
            "name": "SPGF47",
            "description": ""
        },
        {
            "id": "MONDO:0030844",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030844",
            "name": "spermatogenic failure 47",
            "description": ""
        },
        {
            "id": "MIM:619102",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619102",
            "name": "Spermatogenic failure 47",
            "description": "Spermatogenic failure 47"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112175"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112175",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112175",
            "categories": []
        },
        {
            "id": "MONDO:0030844",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030844",
            "categories": []
        },
        {
            "id": "MIM:619102",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619102",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T019-1",
            "uniprot_ac": "Q7T019",
            "uniprot_id": "DZIP1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1",
                    "type": "recommended"
                },
                {
                    "name": "DAZ-interacting protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Iguana protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dzip1",
                    "type": "recommended"
                },
                {
                    "name": "dzip1",
                    "type": "synonym"
                },
                {
                    "name": "igu",
                    "type": "synonym"
                },
                {
                    "name": "si:dz52i16.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T019-1",
            "evidence": [
                {
                    "id": "0112175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BMD2-1",
            "uniprot_ac": "Q8BMD2",
            "uniprot_id": "DZIP1_MOUSE",
            "refseq_ac": "NP_080219",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1",
                    "type": "recommended"
                },
                {
                    "name": "DAZ-interacting protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DZIP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dzip1",
                    "type": "recommended"
                },
                {
                    "name": "2510025K24Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810422M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dzip1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0996",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BMD2-1",
            "evidence": [
                {
                    "id": "0112175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86YF9-1",
            "uniprot_ac": "Q86YF9",
            "uniprot_id": "DZIP1_HUMAN",
            "refseq_ac": "NP_055749",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1",
                    "type": "recommended"
                },
                {
                    "name": "DAZ interacting protein testis1",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting protein 1/2",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger DAZ interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "zinc-finger protein DZIPt1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DZIP1",
                    "type": "recommended"
                },
                {
                    "name": "DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "DZIP2",
                    "type": "synonym"
                },
                {
                    "name": "DZIPt1",
                    "type": "synonym"
                },
                {
                    "name": "DZIP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0996",
                    "type": "synonym"
                },
                {
                    "name": "MMVP3",
                    "type": "synonym"
                },
                {
                    "name": "MVP3",
                    "type": "synonym"
                },
                {
                    "name": "SPGF47",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86YF9-1",
            "evidence": [
                {
                    "id": "619102",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619102"
                },
                {
                    "id": "0112175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZVC1-1",
            "uniprot_ac": "A0A8I5ZVC1",
            "uniprot_id": "A0A8I5ZVC1_RAT",
            "refseq_ac": "NP_001414168",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1",
                    "type": "recommended"
                },
                {
                    "name": "DAZ interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cilium assembly protein DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein DZIP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dzip1",
                    "type": "recommended"
                },
                {
                    "name": "Dzip1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZVC1-1",
            "evidence": [
                {
                    "id": "0112175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112175"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC70-1",
            "uniprot_ac": "Q9VC70",
            "uniprot_id": "DZIP1_DROME",
            "refseq_ac": "NP_001262918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilium assembly protein DZIP1L",
                    "type": "recommended"
                },
                {
                    "name": "CG13617-PB",
                    "type": "synonym"
                },
                {
                    "name": "DAZ-interacting zinc finger protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "DZIP1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "DZIP1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "iguana",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DZIP1",
                    "type": "recommended"
                },
                {
                    "name": "CG13617",
                    "type": "synonym"
                },
                {
                    "name": "DZIP1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13617",
                    "type": "synonym"
                },
                {
                    "name": "Dzip1",
                    "type": "synonym"
                },
                {
                    "name": "dzip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC70-1",
            "evidence": [
                {
                    "id": "0112175",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112175"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112175"
}