{
    "disease_id": "DOID:0110985",
    "recommended_name": {
        "id": "DOID:0110985",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110985",
        "name": "Joubert syndrome 16",
        "description": "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q."
    },
    "synonyms": [
        {
            "id": "DOID:0110985",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110985",
            "name": "JBTS16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome 16",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene."
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "JBTS16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome caused by mutation in TMEM138",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "Joubert syndrome type 16",
            "description": ""
        },
        {
            "id": "MONDO:0013764",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "name": "TMEM138 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:614465",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614465",
            "name": "Joubert syndrome 16",
            "description": "Joubert syndrome 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110985"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110985",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110985",
            "categories": []
        },
        {
            "id": "MONDO:0013764",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013764",
            "categories": []
        },
        {
            "id": "MIM:614465",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614465",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FDE0-1",
            "uniprot_ac": "E7FDE0",
            "uniprot_id": "TM138_DANRE",
            "refseq_ac": "NP_001410775",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 138",
                    "type": "recommended"
                },
                {
                    "name": "tmem138a",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 138",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem138",
                    "type": "recommended"
                },
                {
                    "name": "tmem138",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FDE0-1",
            "evidence": [
                {
                    "id": "0110985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D6G5-1",
            "uniprot_ac": "Q9D6G5",
            "uniprot_id": "TM138_MOUSE",
            "refseq_ac": "NP_001289147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 138",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 138 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem138",
                    "type": "recommended"
                },
                {
                    "name": "1700113I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900055D14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem138",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D6G5-1",
            "evidence": [
                {
                    "id": "0110985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPI0-1",
            "uniprot_ac": "Q9NPI0",
            "uniprot_id": "TM138_HUMAN",
            "refseq_ac": "NP_057548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 138",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 138 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM138",
                    "type": "recommended"
                },
                {
                    "name": "HSPC196",
                    "type": "synonym"
                },
                {
                    "name": "HSPC198",
                    "type": "synonym"
                },
                {
                    "name": "TMEM138",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPI0-1",
            "evidence": [
                {
                    "id": "614465",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614465"
                },
                {
                    "id": "0110985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L4V2-1",
            "uniprot_ac": "A0ABK0L4V2",
            "uniprot_id": "A0ABK0L4V2_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": "Transmembrane protein 138",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem138",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L4V2-1",
            "evidence": [
                {
                    "id": "0110985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMK8-1",
            "uniprot_ac": "Q9VMK8",
            "uniprot_id": "Q9VMK8_DROME",
            "refseq_ac": "NP_608972",
            "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 138",
                    "type": "recommended"
                },
                {
                    "name": "CG13999-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13999",
                    "type": "recommended"
                },
                {
                    "name": "CG13999",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13999",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13999",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMK8-1",
            "evidence": [
                {
                    "id": "0110985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110985"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110985"
}