{
    "disease_id": "DOID:0112109",
    "recommended_name": {
        "id": "DOID:0112109",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112109",
        "name": "spermatogenic failure 44",
        "description": "A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112109",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112109",
            "name": "SPGF44",
            "description": ""
        },
        {
            "id": "MONDO:0033622",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033622",
            "name": "spermatogenic failure 44",
            "description": ""
        },
        {
            "id": "MONDO:0033622",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033622",
            "name": "SPGF44",
            "description": ""
        },
        {
            "id": "MIM:619044",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619044",
            "name": "Spermatogenic failure 44",
            "description": "Spermatogenic failure 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112109"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112109",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112109",
            "categories": []
        },
        {
            "id": "MONDO:0033622",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033622",
            "categories": []
        },
        {
            "id": "MIM:619044",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619044",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EZM2-1",
            "uniprot_ac": "E7EZM2",
            "uniprot_id": "E7EZM2_DANRE",
            "refseq_ac": "NP_001314720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 112 kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 112 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep112",
                    "type": "recommended"
                },
                {
                    "name": "cep112",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-196b14.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165627",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZM2-1",
            "evidence": [
                {
                    "id": "0112109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PR68-1",
            "uniprot_ac": "Q5PR68",
            "uniprot_id": "CE112_MOUSE",
            "refseq_ac": "NP_083862",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 112 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep112",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 46",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 112 kDa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 112 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 46",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep112",
                    "type": "recommended"
                },
                {
                    "name": "1700001M19Rik",
                    "type": "synonym"
                },
                {
                    "name": "1700029K01Rik",
                    "type": "synonym"
                },
                {
                    "name": "8430407H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc46",
                    "type": "synonym"
                },
                {
                    "name": "Cep112",
                    "type": "synonym"
                },
                {
                    "name": "Macoco",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PR68-1",
            "evidence": [
                {
                    "id": "0112109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N8E3-1",
            "uniprot_ac": "Q8N8E3",
            "uniprot_id": "CE112_HUMAN",
            "refseq_ac": "NP_001032402",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 112 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep112",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 46",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 112kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 112 kDa isoform b",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 112 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP112",
                    "type": "recommended"
                },
                {
                    "name": "CCDC46",
                    "type": "synonym"
                },
                {
                    "name": "CEP112",
                    "type": "synonym"
                },
                {
                    "name": "MACOCO",
                    "type": "synonym"
                },
                {
                    "name": "SPGF44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N8E3-1",
            "evidence": [
                {
                    "id": "619044",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619044"
                },
                {
                    "id": "0112109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112109"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ABV2-1",
            "uniprot_ac": "D4ABV2",
            "uniprot_id": "D4ABV2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein 112",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep112",
                    "type": "recommended"
                }
            ],
            "record_id": "D4ABV2-1",
            "evidence": [
                {
                    "id": "0112109",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112109"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112109"
}