{
    "disease_id": "DOID:0110982",
    "recommended_name": {
        "id": "DOID:0110982",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110982",
        "name": "Joubert syndrome 13",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110982",
            "name": "JBTS13",
            "description": ""
        },
        {
            "id": "MONDO:0013608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013608",
            "name": "Joubert syndrome 13",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene."
        },
        {
            "id": "MONDO:0013608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013608",
            "name": "JBTS13",
            "description": ""
        },
        {
            "id": "MONDO:0013608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013608",
            "name": "Joubert syndrome 13",
            "description": ""
        },
        {
            "id": "MONDO:0013608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013608",
            "name": "Joubert syndrome caused by mutation in TCTN1",
            "description": ""
        },
        {
            "id": "MONDO:0013608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013608",
            "name": "Joubert syndrome type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013608",
            "name": "TCTN1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:614173",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614173",
            "name": "Joubert syndrome 13",
            "description": "Joubert syndrome 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110982"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110982",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110982",
            "categories": []
        },
        {
            "id": "MONDO:0013608",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013608",
            "categories": []
        },
        {
            "id": "MIM:614173",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614173",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6G5-1",
            "uniprot_ac": "A0ACD6B6G5",
            "uniprot_id": "A0ACD6B6G5_DANRE",
            "refseq_ac": "XP_009303412",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tctn1",
                    "type": "recommended"
                },
                {
                    "name": "tctn1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6G5-1",
            "evidence": [
                {
                    "id": "0110982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BZ64-1",
            "uniprot_ac": "Q8BZ64",
            "uniprot_id": "TECT1_MOUSE",
            "refseq_ac": "NP_001034242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-1",
                    "type": "recommended"
                },
                {
                    "name": "tectonic-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tctn1",
                    "type": "recommended"
                },
                {
                    "name": "4930565B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "G730031O11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tctn1",
                    "type": "synonym"
                },
                {
                    "name": "Tect1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZ64-1",
            "evidence": [
                {
                    "id": "0110982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2MV58-1",
            "uniprot_ac": "Q2MV58",
            "uniprot_id": "TECT1_HUMAN",
            "refseq_ac": "NP_001076006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-1",
                    "type": "recommended"
                },
                {
                    "name": "tectonic-1 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCTN1",
                    "type": "recommended"
                },
                {
                    "name": "JBTS13",
                    "type": "synonym"
                },
                {
                    "name": "PRO34160",
                    "type": "synonym"
                },
                {
                    "name": "TCTN1",
                    "type": "synonym"
                },
                {
                    "name": "TECT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2MV58-1",
            "evidence": [
                {
                    "id": "614173",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614173"
                },
                {
                    "id": "0110982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M228-1",
            "uniprot_ac": "A0ABK0M228",
            "uniprot_id": "A0ABK0M228_RAT",
            "refseq_ac": "NP_001388059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic family member 1",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tctn1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1566266",
                    "type": "synonym"
                },
                {
                    "name": "Tctn1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M228-1",
            "evidence": [
                {
                    "id": "0110982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMH0-1",
            "uniprot_ac": "Q9VMH0",
            "uniprot_id": "TECT_DROME",
            "refseq_ac": "NP_608998",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic",
                    "type": "recommended"
                },
                {
                    "name": "CG42731-PA",
                    "type": "synonym"
                },
                {
                    "name": "dTectonic",
                    "type": "synonym"
                },
                {
                    "name": "tctn-PA",
                    "type": "synonym"
                },
                {
                    "name": "tectonic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tctn",
                    "type": "recommended"
                },
                {
                    "name": "CG42731",
                    "type": "synonym"
                },
                {
                    "name": "CG9227",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42731",
                    "type": "synonym"
                },
                {
                    "name": "Tectonic",
                    "type": "synonym"
                },
                {
                    "name": "tctn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMH0-1",
            "evidence": [
                {
                    "id": "0110982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110982"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110982"
}