{
    "disease_id": "DOID:0080279",
    "recommended_name": {
        "id": "DOID:0080279",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080279",
        "name": "Joubert syndrome 33",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033311",
            "name": "Joubert syndrome 33",
            "description": ""
        },
        {
            "id": "MONDO:0033311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033311",
            "name": "Joubert syndrome 33",
            "description": ""
        },
        {
            "id": "MONDO:0033311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033311",
            "name": "JBTS33",
            "description": ""
        },
        {
            "id": "MIM:617767",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617767",
            "name": "Joubert syndrome 33",
            "description": "Joubert syndrome 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080279"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080279",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080279",
            "categories": []
        },
        {
            "id": "MONDO:0033311",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033311",
            "categories": []
        },
        {
            "id": "MIM:617767",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617767",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6N2-1",
            "uniprot_ac": "A0ACD6B6N2",
            "uniprot_id": "A0ACD6B6N2_DANRE",
            "refseq_ac": "XP_021327886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progesterone-induced-blocking factor 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "progesterone-induced-blocking factor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pibf1",
                    "type": "recommended"
                },
                {
                    "name": "pibf1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101063",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6N2-1",
            "evidence": [
                {
                    "id": "0080279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q6K3-1",
            "uniprot_ac": "E9Q6K3",
            "uniprot_id": "E9Q6K3_MOUSE",
            "refseq_ac": "NP_083596",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progesterone immunomodulatory binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "progesterone-induced blocking factor 1",
                    "type": "synonym"
                },
                {
                    "name": "progesterone-induced-blocking factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pibf1",
                    "type": "recommended"
                },
                {
                    "name": "Pibf1",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q6K3-1",
            "evidence": [
                {
                    "id": "0080279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXW3-1",
            "uniprot_ac": "Q8WXW3",
            "uniprot_id": "PIBF1_HUMAN",
            "refseq_ac": "NP_006337",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progesterone-induced-blocking factor 1",
                    "type": "recommended"
                },
                {
                    "name": "CEP90",
                    "type": "synonym"
                },
                {
                    "name": "Centrosomal protein of 90 kDa",
                    "type": "synonym"
                },
                {
                    "name": "PIBF",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 90 kDa",
                    "type": "synonym"
                },
                {
                    "name": "progesterone-induced-blocking factor 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "progesterone-induced-blocking factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIBF1",
                    "type": "recommended"
                },
                {
                    "name": "C13orf24",
                    "type": "synonym"
                },
                {
                    "name": "CEP90",
                    "type": "synonym"
                },
                {
                    "name": "JBTS33",
                    "type": "synonym"
                },
                {
                    "name": "PIBF1",
                    "type": "synonym"
                },
                {
                    "name": "PIBF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXW3-1",
            "evidence": [
                {
                    "id": "617767",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617767"
                },
                {
                    "id": "0080279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080279"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZU21-1",
            "uniprot_ac": "D3ZU21",
            "uniprot_id": "D3ZU21_RAT",
            "refseq_ac": "NP_001292348",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progesterone immunomodulatory binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "progesterone-induced-blocking factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pibf1",
                    "type": "recommended"
                },
                {
                    "name": "Pibf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305077",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZU21-1",
            "evidence": [
                {
                    "id": "0080279",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080279"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080279"
}