{
    "disease_id": "DOID:0080278",
    "recommended_name": {
        "id": "DOID:0080278",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080278",
        "name": "Joubert syndrome 32",
        "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0033309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033309",
            "name": "Joubert syndrome 32",
            "description": ""
        },
        {
            "id": "MONDO:0033309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033309",
            "name": "Joubert syndrome 32",
            "description": ""
        },
        {
            "id": "MONDO:0033309",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033309",
            "name": "JBTS32",
            "description": ""
        },
        {
            "id": "MIM:617757",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617757",
            "name": "Joubert syndrome 32",
            "description": "Joubert syndrome 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080278"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080278",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080278",
            "categories": []
        },
        {
            "id": "MONDO:0033309",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033309",
            "categories": []
        },
        {
            "id": "MIM:617757",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617757",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0P7-1",
            "uniprot_ac": "Q9Z0P7",
            "uniprot_id": "SUFU_MOUSE",
            "refseq_ac": "NP_001020562",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Suppressor of fused homolog",
                    "type": "recommended"
                },
                {
                    "name": "suppressor of fused homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of fused homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sufu",
                    "type": "recommended"
                },
                {
                    "name": "Su(fu)",
                    "type": "synonym"
                },
                {
                    "name": "Sufu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0P7-1",
            "evidence": [
                {
                    "id": "0080278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMX1-1",
            "uniprot_ac": "Q9UMX1",
            "uniprot_id": "SUFU_HUMAN",
            "refseq_ac": "NP_001171604",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Suppressor of fused homolog",
                    "type": "recommended"
                },
                {
                    "name": "SUFUH",
                    "type": "synonym"
                },
                {
                    "name": "negative regulator of hedgehog signaling",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of fused homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of fused homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SUFU",
                    "type": "recommended"
                },
                {
                    "name": "BCNS2",
                    "type": "synonym"
                },
                {
                    "name": "JBTS32",
                    "type": "synonym"
                },
                {
                    "name": "PRO1280",
                    "type": "synonym"
                },
                {
                    "name": "SUFUH",
                    "type": "synonym"
                },
                {
                    "name": "SUFUXL",
                    "type": "synonym"
                },
                {
                    "name": "SUFU",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMX1-1",
            "evidence": [
                {
                    "id": "617757",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617757"
                },
                {
                    "id": "0080278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A606-1",
            "uniprot_ac": "A0A8I6A606",
            "uniprot_id": "A0A8I6A606_RAT",
            "refseq_ac": "NP_001426873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Suppressor of fused homolog",
                    "type": "recommended"
                },
                {
                    "name": "suppressor of fused homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of fused homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sufu",
                    "type": "recommended"
                },
                {
                    "name": "Sufu",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A606-1",
            "evidence": [
                {
                    "id": "0080278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG38-1",
            "uniprot_ac": "Q9VG38",
            "uniprot_id": "Q9VG38_DROME",
            "refseq_ac": "NP_536750",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Suppressor of fused homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG6054-PA",
                    "type": "synonym"
                },
                {
                    "name": "Su(fu)-PA",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of fused",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Su(fu)",
                    "type": "recommended"
                },
                {
                    "name": "CG6054",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6054",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6054",
                    "type": "synonym"
                },
                {
                    "name": "SU(FU)",
                    "type": "synonym"
                },
                {
                    "name": "SUFU",
                    "type": "synonym"
                },
                {
                    "name": "Su(Fu)",
                    "type": "synonym"
                },
                {
                    "name": "Su(fu)",
                    "type": "synonym"
                },
                {
                    "name": "SuFu",
                    "type": "synonym"
                },
                {
                    "name": "Sufu",
                    "type": "synonym"
                },
                {
                    "name": "d Sufu",
                    "type": "synonym"
                },
                {
                    "name": "dSufu",
                    "type": "synonym"
                },
                {
                    "name": "su(fu)",
                    "type": "synonym"
                },
                {
                    "name": "sufu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VG38-1",
            "evidence": [
                {
                    "id": "0080278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080278"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080278"
}