{
    "disease_id": "DOID:0110989",
    "recommended_name": {
        "id": "DOID:0110989",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110989",
        "name": "Joubert syndrome 20",
        "description": "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110989",
            "name": "JBTS20",
            "description": ""
        },
        {
            "id": "MONDO:0013994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013994",
            "name": "Joubert syndrome 20",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene."
        },
        {
            "id": "MONDO:0013994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013994",
            "name": "JBTS20",
            "description": ""
        },
        {
            "id": "MONDO:0013994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013994",
            "name": "Joubert syndrome 20",
            "description": ""
        },
        {
            "id": "MONDO:0013994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013994",
            "name": "Joubert syndrome caused by mutation in TMEM231",
            "description": ""
        },
        {
            "id": "MONDO:0013994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013994",
            "name": "Joubert syndrome type 20",
            "description": ""
        },
        {
            "id": "MONDO:0013994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013994",
            "name": "TMEM231 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:614970",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614970",
            "name": "Joubert syndrome 20",
            "description": "Joubert syndrome 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110989"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110989",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110989",
            "categories": []
        },
        {
            "id": "MONDO:0013994",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013994",
            "categories": []
        },
        {
            "id": "MIM:614970",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614970",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T316-1",
            "uniprot_ac": "Q7T316",
            "uniprot_id": "TM231_DANRE",
            "refseq_ac": "NP_956681",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 231",
                    "type": "recommended"
                },
                {
                    "name": "chst5",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 231",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem231",
                    "type": "recommended"
                },
                {
                    "name": "tmem231",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64166",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T316-1",
            "evidence": [
                {
                    "id": "0110989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U284-1",
            "uniprot_ac": "Q3U284",
            "uniprot_id": "TM231_MOUSE",
            "refseq_ac": "NP_001028493",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 231",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 231 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem231",
                    "type": "recommended"
                },
                {
                    "name": "4932417I16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm178",
                    "type": "synonym"
                },
                {
                    "name": "Tmem231",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U284-1",
            "evidence": [
                {
                    "id": "0110989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H6L2-1",
            "uniprot_ac": "Q9H6L2",
            "uniprot_id": "TM231_HUMAN",
            "refseq_ac": "NP_001070884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 231",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 231 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM231",
                    "type": "recommended"
                },
                {
                    "name": "ALYE870",
                    "type": "synonym"
                },
                {
                    "name": "JBTS20",
                    "type": "synonym"
                },
                {
                    "name": "MKS11",
                    "type": "synonym"
                },
                {
                    "name": "PRO1886",
                    "type": "synonym"
                },
                {
                    "name": "TMEM231",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H6L2-1",
            "evidence": [
                {
                    "id": "614970",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614970"
                },
                {
                    "id": "0110989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVM1-1",
            "uniprot_ac": "Q5FVM1",
            "uniprot_id": "TM231_RAT",
            "refseq_ac": "NP_001257960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 231",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 231",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem231",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306153",
                    "type": "synonym"
                },
                {
                    "name": "Tmem231",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVM1-1",
            "evidence": [
                {
                    "id": "0110989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PB43-1",
            "uniprot_ac": "M9PB43",
            "uniprot_id": "M9PB43_DROME",
            "refseq_ac": "NP_001260097",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 231",
                    "type": "recommended"
                },
                {
                    "name": "CG14020-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14020",
                    "type": "recommended"
                },
                {
                    "name": "CG14020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14020",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PB43-1",
            "evidence": [
                {
                    "id": "0110989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110989"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110989"
}