{
    "disease_id": "DOID:0110988",
    "recommended_name": {
        "id": "DOID:0110988",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110988",
        "name": "Joubert syndrome 2",
        "description": "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110988",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110988",
            "name": "CORS2",
            "description": ""
        },
        {
            "id": "DOID:0110988",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110988",
            "name": "JBTS2",
            "description": ""
        },
        {
            "id": "DOID:0110988",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110988",
            "name": "cerebellooculorenal syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome 2",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene."
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "CORS2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "JBTS2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome caused by mutation in TMEM216",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "Joubert syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "TMEM216 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "name": "cerebellooculorenal syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:608091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608091",
            "name": "Joubert syndrome 2",
            "description": "Joubert syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110988"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110988",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110988",
            "categories": []
        },
        {
            "id": "MONDO:0011963",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011963",
            "categories": []
        },
        {
            "id": "MIM:608091",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608091",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EYQ9-1",
            "uniprot_ac": "E7EYQ9",
            "uniprot_id": "TM216_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 216",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem216",
                    "type": "recommended"
                },
                {
                    "name": "si:rp71-1d10.5",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EYQ9-1",
            "evidence": [
                {
                    "id": "0110988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQC4-1",
            "uniprot_ac": "Q9CQC4",
            "uniprot_id": "TM216_MOUSE",
            "refseq_ac": "NP_001264789",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 216",
                    "type": "recommended"
                },
                {
                    "name": "Thymus atrophy-related protein",
                    "type": "synonym"
                },
                {
                    "name": "thymus atrophy-related protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 216 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem216",
                    "type": "recommended"
                },
                {
                    "name": "1110017C22Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810441K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "4921533J23Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930021F15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem216",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQC4-1",
            "evidence": [
                {
                    "id": "0110988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P0N5-1",
            "uniprot_ac": "Q9P0N5",
            "uniprot_id": "TM216_HUMAN",
            "refseq_ac": "NP_001167461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 216",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 216 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM216",
                    "type": "recommended"
                },
                {
                    "name": "HSPC244",
                    "type": "synonym"
                },
                {
                    "name": "RP98",
                    "type": "synonym"
                },
                {
                    "name": "TMEM216",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P0N5-1",
            "evidence": [
                {
                    "id": "608091",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608091"
                },
                {
                    "id": "0110988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B6ID01-1",
            "uniprot_ac": "B6ID01",
            "uniprot_id": "TM216_RAT",
            "refseq_ac": "NP_001257968",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 216",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 216",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem216",
                    "type": "recommended"
                },
                {
                    "name": "RGD1304607",
                    "type": "synonym"
                },
                {
                    "name": "Tmem216",
                    "type": "synonym"
                }
            ],
            "record_id": "B6ID01-1",
            "evidence": [
                {
                    "id": "0110988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHN0-1",
            "uniprot_ac": "Q9VHN0",
            "uniprot_id": "Q9VHN0_DROME",
            "refseq_ac": "NP_001163553",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8116-PB",
                    "type": "synonym"
                },
                {
                    "name": "TMEM216-PB",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 216, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 216, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 216, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 216, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM216",
                    "type": "recommended"
                },
                {
                    "name": "CG8116",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8116",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8116",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)3246",
                    "type": "synonym"
                },
                {
                    "name": "GH04517",
                    "type": "synonym"
                },
                {
                    "name": "TMEM216",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHN0-1",
            "evidence": [
                {
                    "id": "0110988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110988"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INQ3-1",
            "uniprot_ac": "Q8INQ3",
            "uniprot_id": "Q8INQ3_DROME",
            "refseq_ac": "NP_649819",
            "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 216",
                    "type": "recommended"
                },
                {
                    "name": "CG11760-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11760",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD16427",
                    "type": "synonym"
                },
                {
                    "name": "CG11760",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11760",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11760",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INQ3-1",
            "evidence": [
                {
                    "id": "0110988",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110988"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110988"
}