{
    "disease_id": "DOID:0110141",
    "recommended_name": {
        "id": "DOID:0110141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110141",
        "name": "Bardet-Biedl syndrome 19",
        "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110141",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110141",
            "name": "BBS19",
            "description": ""
        },
        {
            "id": "MONDO:0014447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014447",
            "name": "Bardet-Biedl syndrome 19",
            "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene."
        },
        {
            "id": "MONDO:0014447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014447",
            "name": "BBS19",
            "description": ""
        },
        {
            "id": "MONDO:0014447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014447",
            "name": "Bardet-Biedl syndrome 19",
            "description": ""
        },
        {
            "id": "MONDO:0014447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014447",
            "name": "Bardet-Biedl syndrome caused by mutation in IFT27",
            "description": ""
        },
        {
            "id": "MONDO:0014447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014447",
            "name": "Bardet-Biedl syndrome type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014447",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014447",
            "name": "IFT27 Bardet-Biedl syndrome",
            "description": ""
        },
        {
            "id": "MIM:615996",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615996",
            "name": "Bardet-Biedl syndrome 19",
            "description": "Bardet-Biedl syndrome 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110141"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110141",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110141",
            "categories": []
        },
        {
            "id": "MONDO:0014447",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014447",
            "categories": []
        },
        {
            "id": "MIM:615996",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615996",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D0P8-1",
            "uniprot_ac": "Q9D0P8",
            "uniprot_id": "IFT27_MOUSE",
            "refseq_ac": "NP_080207",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 27 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Putative GTP-binding protein RAY-like",
                    "type": "synonym"
                },
                {
                    "name": "RAB, member of RAS oncogene family-like 4",
                    "type": "synonym"
                },
                {
                    "name": "Rab-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 27 homolog",
                    "type": "synonym"
                },
                {
                    "name": "rab-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift27",
                    "type": "recommended"
                },
                {
                    "name": "2600013G09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ift27",
                    "type": "synonym"
                },
                {
                    "name": "Rabl4",
                    "type": "synonym"
                },
                {
                    "name": "Rayl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0P8-1",
            "evidence": [
                {
                    "id": "0110141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BW83-1",
            "uniprot_ac": "Q9BW83",
            "uniprot_id": "IFT27_HUMAN",
            "refseq_ac": "NP_001171172",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 27 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Putative GTP-binding protein RAY-like",
                    "type": "synonym"
                },
                {
                    "name": "RAB, member of RAS oncogene family-like 4",
                    "type": "synonym"
                },
                {
                    "name": "Rab-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 27 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 27 homolog",
                    "type": "synonym"
                },
                {
                    "name": "rab-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT27",
                    "type": "recommended"
                },
                {
                    "name": "BBS19",
                    "type": "synonym"
                },
                {
                    "name": "CFAP156",
                    "type": "synonym"
                },
                {
                    "name": "FAP156",
                    "type": "synonym"
                },
                {
                    "name": "IFT27",
                    "type": "synonym"
                },
                {
                    "name": "RABL4",
                    "type": "synonym"
                },
                {
                    "name": "RAYL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BW83-1",
            "evidence": [
                {
                    "id": "615996",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615996"
                },
                {
                    "id": "0110141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110141"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZYK4-1",
            "uniprot_ac": "A0A8I5ZYK4",
            "uniprot_id": "A0A8I5ZYK4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 27 homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Putative GTP-binding protein RAY-like",
                    "type": "synonym"
                },
                {
                    "name": "Rab-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift27",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZYK4-1",
            "evidence": [
                {
                    "id": "0110141",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110141"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110141"
}