{
    "disease_id": "DOID:0110996",
    "recommended_name": {
        "id": "DOID:0110996",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110996",
        "name": "Joubert syndrome 27",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110996",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110996",
            "name": "JBTS27",
            "description": ""
        },
        {
            "id": "MONDO:0014927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014927",
            "name": "Joubert syndrome 27",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene."
        },
        {
            "id": "MONDO:0014927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014927",
            "name": "B9D1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014927",
            "name": "JBTS27",
            "description": ""
        },
        {
            "id": "MONDO:0014927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014927",
            "name": "Joubert syndrome 27",
            "description": ""
        },
        {
            "id": "MONDO:0014927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014927",
            "name": "Joubert syndrome caused by mutation in B9D1",
            "description": ""
        },
        {
            "id": "MONDO:0014927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014927",
            "name": "Joubert syndrome type 27",
            "description": ""
        },
        {
            "id": "MIM:617120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617120",
            "name": "Joubert syndrome 27",
            "description": "Joubert syndrome 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110996"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110996",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110996",
            "categories": []
        },
        {
            "id": "MONDO:0014927",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014927",
            "categories": []
        },
        {
            "id": "MIM:617120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503B7-1",
            "uniprot_ac": "Q503B7",
            "uniprot_id": "B9D1_DANRE",
            "refseq_ac": "NP_001019544",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "b9d1",
                    "type": "recommended"
                },
                {
                    "name": "b9d1",
                    "type": "synonym"
                },
                {
                    "name": "im:6905750",
                    "type": "synonym"
                },
                {
                    "name": "im:7069491",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc09g07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110733",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503B7-1",
            "evidence": [
                {
                    "id": "0110996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1S0-1",
            "uniprot_ac": "Q9R1S0",
            "uniprot_id": "B9D1_MOUSE",
            "refseq_ac": "NP_001317709",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B9 domain-containing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial precursor cells protein B9",
                    "type": "synonym"
                },
                {
                    "name": "endothelial precursor cells protein B9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B9d1",
                    "type": "recommended"
                },
                {
                    "name": "B9d1",
                    "type": "synonym"
                },
                {
                    "name": "B9",
                    "type": "synonym"
                },
                {
                    "name": "Eppb9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1S0-1",
            "evidence": [
                {
                    "id": "0110996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPM9-1",
            "uniprot_ac": "Q9UPM9",
            "uniprot_id": "B9D1_HUMAN",
            "refseq_ac": "NP_001308145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B9 domain-containing protein 1 isoform f",
                    "type": "synonym"
                },
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "B9 protein domain 1",
                    "type": "synonym"
                },
                {
                    "name": "MKS1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial precursor protein B9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B9D1",
                    "type": "recommended"
                },
                {
                    "name": "B9D1",
                    "type": "synonym"
                },
                {
                    "name": "B9",
                    "type": "synonym"
                },
                {
                    "name": "EPPB9",
                    "type": "synonym"
                },
                {
                    "name": "JBTS27",
                    "type": "synonym"
                },
                {
                    "name": "MKS9",
                    "type": "synonym"
                },
                {
                    "name": "MKSR-1",
                    "type": "synonym"
                },
                {
                    "name": "MKSR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPM9-1",
            "evidence": [
                {
                    "id": "617120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617120"
                },
                {
                    "id": "0110996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C5J2-1",
            "uniprot_ac": "P0C5J2",
            "uniprot_id": "B9D1_RAT",
            "refseq_ac": "NP_001099256",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "B9 protein domain 1",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial precursor cells protein B9",
                    "type": "synonym"
                },
                {
                    "name": "endothelial precursor cells protein B9",
                    "type": "synonym"
                },
                {
                    "name": "endothelial precursor protein B9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B9d1",
                    "type": "recommended"
                },
                {
                    "name": "B9d1",
                    "type": "synonym"
                },
                {
                    "name": "Eppb9",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C5J2-1",
            "evidence": [
                {
                    "id": "0110996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF59-1",
            "uniprot_ac": "Q9VF59",
            "uniprot_id": "B9D1_DROME",
            "refseq_ac": "NP_650470",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B9d1-PA",
                    "type": "synonym"
                },
                {
                    "name": "B9d1",
                    "type": "synonym"
                },
                {
                    "name": "CG14870-PA",
                    "type": "synonym"
                },
                {
                    "name": "MKS1-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B9d1",
                    "type": "recommended"
                },
                {
                    "name": "B9D1",
                    "type": "synonym"
                },
                {
                    "name": "B9d1",
                    "type": "synonym"
                },
                {
                    "name": "CG14870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14870",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF59-1",
            "evidence": [
                {
                    "id": "0110996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110996"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110996"
}