{
    "disease_id": "DOID:0110983",
    "recommended_name": {
        "id": "DOID:0110983",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110983",
        "name": "Joubert syndrome 14",
        "description": "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110983",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110983",
            "name": "JBTS14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome 14",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene."
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "JBTS14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome 14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome caused by mutation in TMEM237",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "Joubert syndrome type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "name": "TMEM237 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:614424",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614424",
            "name": "Joubert syndrome 14",
            "description": "Joubert syndrome 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110983"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110983",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110983",
            "categories": []
        },
        {
            "id": "MONDO:0013745",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013745",
            "categories": []
        },
        {
            "id": "MIM:614424",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614424",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66IE4-1",
            "uniprot_ac": "Q66IE4",
            "uniprot_id": "T237B_DANRE",
            "refseq_ac": "NP_001004636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 237B",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4b",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 237B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem237b",
                    "type": "recommended"
                },
                {
                    "name": "als2cr4b",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb992",
                    "type": "synonym"
                },
                {
                    "name": "tmem237b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101660",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66IE4-1",
            "evidence": [
                {
                    "id": "0110983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q930-1",
            "uniprot_ac": "F1Q930",
            "uniprot_id": "T237A_DANRE",
            "refseq_ac": "NP_001306065",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 237A",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog A",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4a",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog A",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 237A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem237a",
                    "type": "recommended"
                },
                {
                    "name": "als2cr4a",
                    "type": "synonym"
                },
                {
                    "name": "als2cr4",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-33m14.6",
                    "type": "synonym"
                },
                {
                    "name": "tmem237a",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q930-1",
            "evidence": [
                {
                    "id": "0110983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V0J1-1",
            "uniprot_ac": "Q3V0J1",
            "uniprot_id": "TM237_MOUSE",
            "refseq_ac": "NP_001028621",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 237",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 237 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem237",
                    "type": "recommended"
                },
                {
                    "name": "Als2cr4",
                    "type": "synonym"
                },
                {
                    "name": "Gm972",
                    "type": "synonym"
                },
                {
                    "name": "Tmem237",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V0J1-1",
            "evidence": [
                {
                    "id": "0110983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96Q45-1",
            "uniprot_ac": "Q96Q45",
            "uniprot_id": "TM237_HUMAN",
            "refseq_ac": "NP_001037850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 237",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 237 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM237",
                    "type": "recommended"
                },
                {
                    "name": "ALS2CR4",
                    "type": "synonym"
                },
                {
                    "name": "JBTS14",
                    "type": "synonym"
                },
                {
                    "name": "TMEM237",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96Q45-1",
            "evidence": [
                {
                    "id": "614424",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614424"
                },
                {
                    "id": "0110983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L348-1",
            "uniprot_ac": "A0ABK0L348",
            "uniprot_id": "A0ABK0L348_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 237",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem237",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L348-1",
            "evidence": [
                {
                    "id": "0110983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW76-1",
            "uniprot_ac": "Q9VW76",
            "uniprot_id": "Q9VW76_DROME",
            "refseq_ac": "NP_649174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14186-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14186",
                    "type": "recommended"
                },
                {
                    "name": "CG14186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14186",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW76-1",
            "evidence": [
                {
                    "id": "0110983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110983"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110983"
}