{
    "disease_id": "DOID:0111003",
    "recommended_name": {
        "id": "DOID:0111003",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111003",
        "name": "Joubert syndrome 8",
        "description": "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111003",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111003",
            "name": "JBTS8",
            "description": ""
        },
        {
            "id": "MONDO:0012855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012855",
            "name": "Joubert syndrome 8",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene."
        },
        {
            "id": "MONDO:0012855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012855",
            "name": "ARL13B Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012855",
            "name": "JBTS8",
            "description": ""
        },
        {
            "id": "MONDO:0012855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012855",
            "name": "Joubert syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0012855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012855",
            "name": "Joubert syndrome caused by mutation in ARL13B",
            "description": ""
        },
        {
            "id": "MONDO:0012855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012855",
            "name": "Joubert syndrome type 8",
            "description": ""
        },
        {
            "id": "MIM:612291",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612291",
            "name": "Joubert syndrome 8",
            "description": "Joubert syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111003"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111003",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111003",
            "categories": []
        },
        {
            "id": "MONDO:0012855",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012855",
            "categories": []
        },
        {
            "id": "MIM:612291",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612291",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8JHI3-1",
            "uniprot_ac": "Q8JHI3",
            "uniprot_id": "AR13B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 13B",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ARL2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein scorpion",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arl13b",
                    "type": "recommended"
                },
                {
                    "name": "arl2l1",
                    "type": "synonym"
                },
                {
                    "name": "chunp6872",
                    "type": "synonym"
                },
                {
                    "name": "fc23g07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc23g07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123149",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JHI3-1",
            "evidence": [
                {
                    "id": "0111003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111003"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q640N2-1",
            "uniprot_ac": "Q640N2",
            "uniprot_id": "AR13B_MOUSE",
            "refseq_ac": "NP_080853",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 13B",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 13B",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ARL2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein hennin",
                    "type": "synonym"
                },
                {
                    "name": "protein hennin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl13b",
                    "type": "recommended"
                },
                {
                    "name": "A530097K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930014M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arl13b",
                    "type": "synonym"
                },
                {
                    "name": "Arl2l1",
                    "type": "synonym"
                },
                {
                    "name": "C530009C10Rik",
                    "type": "synonym"
                },
                {
                    "name": "hnn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q640N2-1",
            "evidence": [
                {
                    "id": "0111003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111003"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3SXY8-1",
            "uniprot_ac": "Q3SXY8",
            "uniprot_id": "AR13B_HUMAN",
            "refseq_ac": "NP_001167621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 13B",
                    "type": "recommended"
                },
                {
                    "name": "ADP ribosylation factor like GTPase 13B",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 13B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ARL2-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARL13B",
                    "type": "recommended"
                },
                {
                    "name": "ARL13B",
                    "type": "synonym"
                },
                {
                    "name": "ARL2L1",
                    "type": "synonym"
                },
                {
                    "name": "JBTS8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3SXY8-1",
            "evidence": [
                {
                    "id": "612291",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612291"
                },
                {
                    "id": "0111003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111003"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RDU9-1",
            "uniprot_ac": "M0RDU9",
            "uniprot_id": "M0RDU9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor like GTPase 13B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl13b",
                    "type": "recommended"
                }
            ],
            "record_id": "M0RDU9-1",
            "evidence": [
                {
                    "id": "0111003",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111003"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111003"
}