{
    "disease_id": "DOID:0110984",
    "recommended_name": {
        "id": "DOID:0110984",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110984",
        "name": "Joubert syndrome 15",
        "description": "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110984",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110984",
            "name": "JBTS15",
            "description": ""
        },
        {
            "id": "MONDO:0013763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013763",
            "name": "Joubert syndrome 15",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene."
        },
        {
            "id": "MONDO:0013763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013763",
            "name": "CEP41 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013763",
            "name": "JBTS15",
            "description": ""
        },
        {
            "id": "MONDO:0013763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013763",
            "name": "Joubert syndrome 15",
            "description": ""
        },
        {
            "id": "MONDO:0013763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013763",
            "name": "Joubert syndrome caused by mutation in CEP41",
            "description": ""
        },
        {
            "id": "MONDO:0013763",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013763",
            "name": "Joubert syndrome type 15",
            "description": ""
        },
        {
            "id": "MIM:614464",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614464",
            "name": "Joubert syndrome 15",
            "description": "Joubert syndrome 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110984"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110984",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110984",
            "categories": []
        },
        {
            "id": "MONDO:0013763",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013763",
            "categories": []
        },
        {
            "id": "MIM:614464",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614464",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6GQN0-1",
            "uniprot_ac": "Q6GQN0",
            "uniprot_id": "CEP41_DANRE",
            "refseq_ac": "NP_001002194",
            "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 41 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep41",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific gene A14 protein",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 41 kDa",
                    "type": "synonym"
                },
                {
                    "name": "testis specific, 14",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific gene A14 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep41",
                    "type": "recommended"
                },
                {
                    "name": "cep41",
                    "type": "synonym"
                },
                {
                    "name": "tsga14",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91859",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6GQN0-1",
            "evidence": [
                {
                    "id": "0110984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99NF3-1",
            "uniprot_ac": "Q99NF3",
            "uniprot_id": "CEP41_MOUSE",
            "refseq_ac": "NP_114387",
            "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 41 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep41",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific gene A14 protein",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 41 kDa",
                    "type": "synonym"
                },
                {
                    "name": "testis specific gene A14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep41",
                    "type": "recommended"
                },
                {
                    "name": "1700017E11Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810431D15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cep41",
                    "type": "synonym"
                },
                {
                    "name": "Tsga14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99NF3-1",
            "evidence": [
                {
                    "id": "0110984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYV8-1",
            "uniprot_ac": "Q9BYV8",
            "uniprot_id": "CEP41_HUMAN",
            "refseq_ac": "NP_001244087",
            "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 41 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep41",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific gene A14 protein",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 41 kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 41kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 41 kDa isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 41 kDa",
                    "type": "synonym"
                },
                {
                    "name": "testis specific protein A14",
                    "type": "synonym"
                },
                {
                    "name": "testis specific, 14",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific gene A14 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP41",
                    "type": "recommended"
                },
                {
                    "name": "CEP41",
                    "type": "synonym"
                },
                {
                    "name": "JBTS15",
                    "type": "synonym"
                },
                {
                    "name": "TSGA14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYV8-1",
            "evidence": [
                {
                    "id": "614464",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614464"
                },
                {
                    "id": "0110984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM37-1",
            "uniprot_ac": "Q4KM37",
            "uniprot_id": "CEP41_RAT",
            "refseq_ac": "NP_001020941",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 41 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep41",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific gene A14 protein",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 41kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 41 kDa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 41 kDa",
                    "type": "synonym"
                },
                {
                    "name": "testis specific gene A14",
                    "type": "synonym"
                },
                {
                    "name": "testis specific, 14",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific gene A14 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep41",
                    "type": "recommended"
                },
                {
                    "name": "Cep41",
                    "type": "synonym"
                },
                {
                    "name": "Tsga14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM37-1",
            "evidence": [
                {
                    "id": "0110984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110984"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110984"
}