{
    "disease_id": "DOID:0111002",
    "recommended_name": {
        "id": "DOID:0111002",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111002",
        "name": "Joubert syndrome 7",
        "description": "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111002",
            "name": "JBTS7",
            "description": ""
        },
        {
            "id": "MONDO:0012694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012694",
            "name": "Joubert syndrome 7",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene."
        },
        {
            "id": "MONDO:0012694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012694",
            "name": "JBTS7",
            "description": ""
        },
        {
            "id": "MONDO:0012694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012694",
            "name": "Joubert syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0012694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012694",
            "name": "Joubert syndrome caused by mutation in RPGRIP1L",
            "description": ""
        },
        {
            "id": "MONDO:0012694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012694",
            "name": "Joubert syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012694",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012694",
            "name": "RPGRIP1L Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:611560",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611560",
            "name": "Joubert syndrome 7",
            "description": "Joubert syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111002"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111002",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111002",
            "categories": []
        },
        {
            "id": "MONDO:0012694",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012694",
            "categories": []
        },
        {
            "id": "MIM:611560",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611560",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TJB3-1",
            "uniprot_ac": "A0AB32TJB3",
            "uniprot_id": "A0AB32TJB3_DANRE",
            "refseq_ac": "XP_073798201",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein fantom isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein fantom isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpgrip1l",
                    "type": "recommended"
                },
                {
                    "name": "rpgrip1l",
                    "type": "synonym"
                },
                {
                    "name": "si:ch1073-301i20.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TJB3-1",
            "evidence": [
                {
                    "id": "0111002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CG73-1",
            "uniprot_ac": "Q8CG73",
            "uniprot_id": "FTM_MOUSE",
            "refseq_ac": "NP_775607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein fantom",
                    "type": "recommended"
                },
                {
                    "name": "Nephrocystin-8",
                    "type": "synonym"
                },
                {
                    "name": "RPGR-interacting protein 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "RPGRIP1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "fantom",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-8",
                    "type": "synonym"
                },
                {
                    "name": "protein fantom",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpgrip1l",
                    "type": "recommended"
                },
                {
                    "name": "1700047E16Rik",
                    "type": "synonym"
                },
                {
                    "name": "4931437C01",
                    "type": "synonym"
                },
                {
                    "name": "Ftm",
                    "type": "synonym"
                },
                {
                    "name": "Nphp8",
                    "type": "synonym"
                },
                {
                    "name": "Rpgrip1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CG73-1",
            "evidence": [
                {
                    "id": "0111002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68CZ1-1",
            "uniprot_ac": "Q68CZ1",
            "uniprot_id": "FTM_HUMAN",
            "refseq_ac": "NP_001121369",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein fantom",
                    "type": "recommended"
                },
                {
                    "name": "Nephrocystin-8",
                    "type": "synonym"
                },
                {
                    "name": "RPGR-interacting protein 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "RPGRIP1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "fantom homolog",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-8",
                    "type": "synonym"
                },
                {
                    "name": "protein fantom isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein fantom",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 134",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPGRIP1L",
                    "type": "recommended"
                },
                {
                    "name": "COACH3",
                    "type": "synonym"
                },
                {
                    "name": "CORS3",
                    "type": "synonym"
                },
                {
                    "name": "FTM",
                    "type": "synonym"
                },
                {
                    "name": "JBTS7",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1005",
                    "type": "synonym"
                },
                {
                    "name": "MKS5",
                    "type": "synonym"
                },
                {
                    "name": "NPHP8",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R134",
                    "type": "synonym"
                },
                {
                    "name": "RPGRIP1L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68CZ1-1",
            "evidence": [
                {
                    "id": "611560",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611560"
                },
                {
                    "id": "0111002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L5P7-1",
            "uniprot_ac": "A0ABK0L5P7",
            "uniprot_id": "A0ABK0L5P7_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": "Protein fantom",
                    "type": "recommended"
                },
                {
                    "name": "Nephrocystin-8",
                    "type": "synonym"
                },
                {
                    "name": "RPGR-interacting protein 1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpgrip1l",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L5P7-1",
            "evidence": [
                {
                    "id": "0111002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111002"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111002"
}