{
    "disease_id": "DOID:0110990",
    "recommended_name": {
        "id": "DOID:0110990",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110990",
        "name": "Joubert syndrome 21",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110990",
            "name": "JBTS21",
            "description": ""
        },
        {
            "id": "MONDO:0014288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014288",
            "name": "Joubert syndrome 21",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene."
        },
        {
            "id": "MONDO:0014288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014288",
            "name": "CSPP1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014288",
            "name": "JBTS21",
            "description": ""
        },
        {
            "id": "MONDO:0014288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014288",
            "name": "Joubert syndrome 21",
            "description": ""
        },
        {
            "id": "MONDO:0014288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014288",
            "name": "Joubert syndrome caused by mutation in CSPP1",
            "description": ""
        },
        {
            "id": "MONDO:0014288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014288",
            "name": "Joubert syndrome type 21",
            "description": ""
        },
        {
            "id": "MIM:615636",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615636",
            "name": "Joubert syndrome 21",
            "description": "Joubert syndrome 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110990"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110990",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110990",
            "categories": []
        },
        {
            "id": "MONDO:0014288",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014288",
            "categories": []
        },
        {
            "id": "MIM:615636",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615636",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TEP9-1",
            "uniprot_ac": "A0A8N7TEP9",
            "uniprot_id": "A0A8N7TEP9_DANRE",
            "refseq_ac": "XP_699190",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosome and spindle pole associated protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "centrosome and spindle pole associated protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cspp1b",
                    "type": "recommended"
                },
                {
                    "name": "cspp1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TEP9-1",
            "evidence": [
                {
                    "id": "0110990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RX88-1",
            "uniprot_ac": "B2RX88",
            "uniprot_id": "CSPP1_MOUSE",
            "refseq_ac": "NP_080769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosome and spindle pole associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "centrosome and spindle pole associated protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosome/spindle pole-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "centrosome/spindle pole-associated protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cspp1",
                    "type": "recommended"
                },
                {
                    "name": "2310020J12Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930413O22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cspp1",
                    "type": "synonym"
                },
                {
                    "name": "Cspp2",
                    "type": "synonym"
                },
                {
                    "name": "Cspp3",
                    "type": "synonym"
                },
                {
                    "name": "Cspp",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RX88-1",
            "evidence": [
                {
                    "id": "0110990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1MSJ5-3",
            "uniprot_ac": "Q1MSJ5",
            "uniprot_id": "CSPP1_HUMAN",
            "refseq_ac": "NP_001278268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosome and spindle pole-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "centrosome and spindle pole-associated protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSPP1",
                    "type": "recommended"
                },
                {
                    "name": "CSPP-L",
                    "type": "synonym"
                },
                {
                    "name": "CSPP1",
                    "type": "synonym"
                },
                {
                    "name": "CSPP",
                    "type": "synonym"
                },
                {
                    "name": "JBTS21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1MSJ5-3",
            "evidence": [
                {
                    "id": "615636",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615636"
                },
                {
                    "id": "0110990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LPI1-1",
            "uniprot_ac": "F1LPI1",
            "uniprot_id": "F1LPI1_RAT",
            "refseq_ac": "XP_038966106",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosome and spindle pole associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosome and spindle pole-associated protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cspp1",
                    "type": "recommended"
                },
                {
                    "name": "Cspp1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307055",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LPI1-1",
            "evidence": [
                {
                    "id": "0110990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110990"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110990"
}