{
    "disease_id": "DOID:0110998",
    "recommended_name": {
        "id": "DOID:0110998",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110998",
        "name": "Joubert syndrome 3",
        "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110998",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110998",
            "name": "JBTS3",
            "description": ""
        },
        {
            "id": "MONDO:0012078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012078",
            "name": "Joubert syndrome 3",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene."
        },
        {
            "id": "MONDO:0012078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012078",
            "name": "AHI1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012078",
            "name": "JBTS3",
            "description": ""
        },
        {
            "id": "MONDO:0012078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012078",
            "name": "Joubert syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0012078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012078",
            "name": "Joubert syndrome caused by mutation in AHI1",
            "description": ""
        },
        {
            "id": "MONDO:0012078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012078",
            "name": "Joubert syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:608629",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608629",
            "name": "Joubert syndrome 3",
            "description": "Joubert syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110998"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110998",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110998",
            "categories": []
        },
        {
            "id": "MONDO:0012078",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012078",
            "categories": []
        },
        {
            "id": "MIM:608629",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608629",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QX08-1",
            "uniprot_ac": "F1QX08",
            "uniprot_id": "F1QX08_DANRE",
            "refseq_ac": "NP_001306918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "ZAhi-1",
                    "type": "synonym"
                },
                {
                    "name": "jouberin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ahi1",
                    "type": "recommended"
                },
                {
                    "name": "ahi1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QX08-1",
            "evidence": [
                {
                    "id": "0110998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3E5-1",
            "uniprot_ac": "Q8K3E5",
            "uniprot_id": "AHI1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "Abelson helper integration site 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahi1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8K3E5-1",
            "evidence": [
                {
                    "id": "0110998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N157-1",
            "uniprot_ac": "Q8N157",
            "uniprot_id": "AHI1_HUMAN",
            "refseq_ac": "NP_001128302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "Abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "contatins SH3 and WD40 domains",
                    "type": "synonym"
                },
                {
                    "name": "jouberin isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AHI1",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "AHI1",
                    "type": "synonym"
                },
                {
                    "name": "JBTS3",
                    "type": "synonym"
                },
                {
                    "name": "ORF1",
                    "type": "synonym"
                },
                {
                    "name": "dJ71N10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N157-1",
            "evidence": [
                {
                    "id": "608629",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608629"
                },
                {
                    "id": "0110998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110998"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DTM3-1",
            "uniprot_ac": "Q6DTM3",
            "uniprot_id": "AHI1_RAT",
            "refseq_ac": "NP_001002277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "Abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "jouberin-like",
                    "type": "synonym"
                },
                {
                    "name": "jouberin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahi1",
                    "type": "recommended"
                },
                {
                    "name": "Ahi-1",
                    "type": "synonym"
                },
                {
                    "name": "Ahi1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DTM3-1",
            "evidence": [
                {
                    "id": "0110998",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110998"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110998"
}