{
    "disease_id": "DOID:0110981",
    "recommended_name": {
        "id": "DOID:0110981",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110981",
        "name": "Joubert syndrome 10",
        "description": "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110981",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110981",
            "name": "JBTS10",
            "description": ""
        },
        {
            "id": "MONDO:0010431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "name": "Joubert syndrome 10",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene."
        },
        {
            "id": "MONDO:0010431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "name": "JBTS10",
            "description": ""
        },
        {
            "id": "MONDO:0010431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "name": "Joubert syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0010431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "name": "Joubert syndrome 10, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "name": "Joubert syndrome caused by mutation in OFD1",
            "description": ""
        },
        {
            "id": "MONDO:0010431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "name": "Joubert syndrome type 10",
            "description": ""
        },
        {
            "id": "MONDO:0010431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "name": "OFD1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:300804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300804",
            "name": "Joubert syndrome 10",
            "description": "Joubert syndrome 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110981"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110981",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110981",
            "categories": []
        },
        {
            "id": "MONDO:0010431",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010431",
            "categories": []
        },
        {
            "id": "MIM:300804",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300804",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZK7-1",
            "uniprot_ac": "Q7SZK7",
            "uniprot_id": "OFD1_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": "Centriole and centriolar satellite protein ofd1",
                    "type": "recommended"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ofd1",
                    "type": "recommended"
                },
                {
                    "name": "wu:fa07a10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd17e11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92562",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZK7-1",
            "evidence": [
                {
                    "id": "0110981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Z25-1",
            "uniprot_ac": "Q80Z25",
            "uniprot_id": "OFD1_MOUSE",
            "refseq_ac": "NP_803178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein OFD1",
                    "type": "recommended"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ofd1",
                    "type": "recommended"
                },
                {
                    "name": "Cxorf5",
                    "type": "synonym"
                },
                {
                    "name": "DXGgc7e",
                    "type": "synonym"
                },
                {
                    "name": "ORF2",
                    "type": "synonym"
                },
                {
                    "name": "Ofd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Z25-1",
            "evidence": [
                {
                    "id": "0110981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75665-1",
            "uniprot_ac": "O75665",
            "uniprot_id": "OFD1_HUMAN",
            "refseq_ac": "NP_001317138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein OFD1",
                    "type": "recommended"
                },
                {
                    "name": "Joubert syndrome type 10",
                    "type": "synonym"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein 71-7A",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "protein 71-7A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OFD1",
                    "type": "recommended"
                },
                {
                    "name": "71-7A",
                    "type": "synonym"
                },
                {
                    "name": "CXorf5",
                    "type": "synonym"
                },
                {
                    "name": "JBTS10",
                    "type": "synonym"
                },
                {
                    "name": "OFD1",
                    "type": "synonym"
                },
                {
                    "name": "RP23",
                    "type": "synonym"
                },
                {
                    "name": "SGBS2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75665-1",
            "evidence": [
                {
                    "id": "300804",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300804"
                },
                {
                    "id": "0110981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUD5-1",
            "uniprot_ac": "D3ZUD5",
            "uniprot_id": "D3ZUD5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ofd1 centriole and centriolar satellite protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ofd1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZUD5-1",
            "evidence": [
                {
                    "id": "0110981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110981"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110981"
}