{
    "disease_id": "DOID:0081010",
    "recommended_name": {
        "id": "DOID:0081010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081010",
        "name": "Bardet-Biedl syndrome 21",
        "description": "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0044308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044308",
            "name": "bardet-biedl syndrome 21",
            "description": "BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)."
        },
        {
            "id": "MONDO:0044308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044308",
            "name": "BBS21",
            "description": ""
        },
        {
            "id": "MIM:617406",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617406",
            "name": "Bardet-Biedl syndrome 21",
            "description": "Bardet-Biedl syndrome 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081010"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081010",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081010",
            "categories": []
        },
        {
            "id": "MONDO:0044308",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044308",
            "categories": []
        },
        {
            "id": "MIM:617406",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617406",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0DOC8-1",
            "uniprot_ac": "P0DOC8",
            "uniprot_id": "CF418_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 418",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "cfap418",
                    "type": "recommended"
                },
                {
                    "name": "c16h8orf37",
                    "type": "synonym"
                },
                {
                    "name": "dkey-242e21.4",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-242e21.4",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DOC8-1",
            "evidence": [
                {
                    "id": "0081010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UJP5-1",
            "uniprot_ac": "Q3UJP5",
            "uniprot_id": "CF418_MOUSE",
            "refseq_ac": "NP_080281",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 418",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 418",
                    "type": "synonym"
                },
                {
                    "name": "protein C8orf37 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap418",
                    "type": "recommended"
                },
                {
                    "name": "2610301B20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cfap418",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UJP5-1",
            "evidence": [
                {
                    "id": "0081010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96NL8-1",
            "uniprot_ac": "Q96NL8",
            "uniprot_id": "CF418_HUMAN",
            "refseq_ac": "NP_808880",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 418",
                    "type": "recommended"
                },
                {
                    "name": "Bardet-Biedl syndrome 21",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 418 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein C8orf37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP418",
                    "type": "recommended"
                },
                {
                    "name": "BBS21",
                    "type": "synonym"
                },
                {
                    "name": "C8orf37",
                    "type": "synonym"
                },
                {
                    "name": "CFAP418",
                    "type": "synonym"
                },
                {
                    "name": "CORD16",
                    "type": "synonym"
                },
                {
                    "name": "FAP418",
                    "type": "synonym"
                },
                {
                    "name": "MOT25",
                    "type": "synonym"
                },
                {
                    "name": "RP64",
                    "type": "synonym"
                },
                {
                    "name": "smalltalk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96NL8-1",
            "evidence": [
                {
                    "id": "617406",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617406"
                },
                {
                    "id": "0081010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY71-1",
            "uniprot_ac": "Q6AY71",
            "uniprot_id": "CF418_RAT",
            "refseq_ac": "NP_001007747",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 418",
                    "type": "recommended"
                },
                {
                    "name": "cilia- and flagella-associated protein 418 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C8orf37 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfap418",
                    "type": "recommended"
                },
                {
                    "name": "Cfap418",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY71-1",
            "evidence": [
                {
                    "id": "0081010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081010"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081010"
}