{
    "disease_id": "DOID:0110986",
    "recommended_name": {
        "id": "DOID:0110986",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110986",
        "name": "Joubert syndrome 17",
        "description": "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110986",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110986",
            "name": "JBTS17",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome 17",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene."
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "CPLANE1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "JBTS17",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome 17",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome caused by mutation in CPLANE1",
            "description": ""
        },
        {
            "id": "MONDO:0013824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "name": "Joubert syndrome type 17",
            "description": ""
        },
        {
            "id": "MIM:614615",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614615",
            "name": "Joubert syndrome 17",
            "description": "Joubert syndrome 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110986"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110986",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110986",
            "categories": []
        },
        {
            "id": "MONDO:0013824",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013824",
            "categories": []
        },
        {
            "id": "MIM:614615",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614615",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q691-1",
            "uniprot_ac": "A0A8M9Q691",
            "uniprot_id": "A0A8M9Q691_DANRE",
            "refseq_ac": "XP_021334903",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ciliogenesis and planar polarity effector 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cplane1",
                    "type": "recommended"
                },
                {
                    "name": "cplane1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q691-1",
            "evidence": [
                {
                    "id": "0110986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CE72-1",
            "uniprot_ac": "Q8CE72",
            "uniprot_id": "CPLN1_MOUSE",
            "refseq_ac": "NP_001156378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ciliogenesis and planar polarity effector 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein C5orf42 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein JBTS17",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector 1",
                    "type": "synonym"
                },
                {
                    "name": "protein C5orf42 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein JBTS17",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein ENSP00000382582 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cplane1",
                    "type": "recommended"
                },
                {
                    "name": "2410089E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "4732468D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cplane1",
                    "type": "synonym"
                },
                {
                    "name": "Hug",
                    "type": "synonym"
                },
                {
                    "name": "Jbts17",
                    "type": "synonym"
                },
                {
                    "name": "b2b012Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CE72-1",
            "evidence": [
                {
                    "id": "0110986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H799-1",
            "uniprot_ac": "Q9H799",
            "uniprot_id": "CPLN1_HUMAN",
            "refseq_ac": "NP_075561",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ciliogenesis and planar polarity effector 1",
                    "type": "recommended"
                },
                {
                    "name": "Heart Under Glass",
                    "type": "synonym"
                },
                {
                    "name": "Protein JBTS17",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector 1",
                    "type": "synonym"
                },
                {
                    "name": "protein JBTS17",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein ENSP00000382582",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPLANE1",
                    "type": "recommended"
                },
                {
                    "name": "C5orf42",
                    "type": "synonym"
                },
                {
                    "name": "CPLANE1",
                    "type": "synonym"
                },
                {
                    "name": "Hug",
                    "type": "synonym"
                },
                {
                    "name": "JBTS17",
                    "type": "synonym"
                },
                {
                    "name": "OFD6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H799-1",
            "evidence": [
                {
                    "id": "614615",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614615"
                },
                {
                    "id": "0110986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110986"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L4M2-1",
            "uniprot_ac": "A0ABK0L4M2",
            "uniprot_id": "A0ABK0L4M2_RAT",
            "refseq_ac": "XP_038959457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ciliogenesis and planar polarity effector complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ciliogenesis and planar polarity effector 1 isoform X6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cplane1",
                    "type": "recommended"
                },
                {
                    "name": "Cplane1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310081",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L4M2-1",
            "evidence": [
                {
                    "id": "0110986",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110986"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110986"
}