{
    "disease_id": "DOID:0111087",
    "recommended_name": {
        "id": "DOID:0111087",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111087",
        "name": "Fanconi anemia complementation group C",
        "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111087",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111087",
            "name": "FA3",
            "description": ""
        },
        {
            "id": "DOID:0111087",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111087",
            "name": "FACC",
            "description": ""
        },
        {
            "id": "DOID:0111087",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111087",
            "name": "FANCC",
            "description": ""
        },
        {
            "id": "DOID:0111087",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111087",
            "name": "Fanconi pancytopenia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "Fanconi anemia complementation group C",
            "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA."
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "FA3",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "FACC",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "FANCC",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "Fanconi Anemia, complementation group type C",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "Fanconi anaemia complementation group type C",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "Fanconi anemia complementation group C",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "Fanconi anemia complementation group type C",
            "description": ""
        },
        {
            "id": "MONDO:0009213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "name": "Fanconi anemia, complementation group C",
            "description": ""
        },
        {
            "id": "MIM:227645",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/227645",
            "name": "Fanconi anemia complementation group C",
            "description": "Fanconi anemia complementation group C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111087"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111087",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111087",
            "categories": []
        },
        {
            "id": "MONDO:0009213",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009213",
            "categories": []
        },
        {
            "id": "MIM:227645",
            "database": "MIM",
            "url": "https://www.omim.org/entry/227645",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0V1A9-1",
            "uniprot_ac": "B0V1A9",
            "uniprot_id": "B0V1A9_DANRE",
            "refseq_ac": "XP_005167236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group C protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fancc",
                    "type": "recommended"
                },
                {
                    "name": "fancc",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154105",
                    "type": "synonym"
                }
            ],
            "record_id": "B0V1A9-1",
            "evidence": [
                {
                    "id": "0111087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50652-1",
            "uniprot_ac": "P50652",
            "uniprot_id": "FANCC_MOUSE",
            "refseq_ac": "NP_001334443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group C protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group C protein homolog isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACC",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group C protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancc",
                    "type": "recommended"
                },
                {
                    "name": "Facc",
                    "type": "synonym"
                },
                {
                    "name": "Fac",
                    "type": "synonym"
                },
                {
                    "name": "Fancc",
                    "type": "synonym"
                }
            ],
            "record_id": "P50652-1",
            "evidence": [
                {
                    "id": "0111087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00597-1",
            "uniprot_ac": "Q00597",
            "uniprot_id": "FANCC_HUMAN",
            "refseq_ac": "NP_000127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group C protein",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia complementation group C",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group C protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group C protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCC",
                    "type": "recommended"
                },
                {
                    "name": "FA3",
                    "type": "synonym"
                },
                {
                    "name": "FACC",
                    "type": "synonym"
                },
                {
                    "name": "FAC",
                    "type": "synonym"
                },
                {
                    "name": "FANCC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00597-1",
            "evidence": [
                {
                    "id": "227645",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/227645"
                },
                {
                    "id": "0111087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35870-1",
            "uniprot_ac": "O35870",
            "uniprot_id": "FANCC_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": "Fanconi anemia group C protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Protein FACC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancc",
                    "type": "recommended"
                },
                {
                    "name": "Facc",
                    "type": "synonym"
                }
            ],
            "record_id": "O35870-1",
            "evidence": [
                {
                    "id": "0111087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05093-1",
            "uniprot_ac": "P05093",
            "uniprot_id": "CP17A_HUMAN",
            "refseq_ac": "NP_000093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroid 17-alpha-hydroxylase/17,20 lyase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.19",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.32",
                    "type": "synonym"
                },
                {
                    "name": "17-alpha-hydroxyprogesterone aldolase",
                    "type": "synonym"
                },
                {
                    "name": "CYPXVII",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450 17A1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450-C17",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450c17",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 17-alpha-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 17A1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 17, subfamily A, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450-C17",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450c17",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome p450 XVIIA1",
                    "type": "synonym"
                },
                {
                    "name": "steroid 17-alpha-hydroxylase/17,20 lyase",
                    "type": "synonym"
                },
                {
                    "name": "steroid 17-alpha-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP17A1",
                    "type": "recommended"
                },
                {
                    "name": "CPT7",
                    "type": "synonym"
                },
                {
                    "name": "CYP17A1",
                    "type": "synonym"
                },
                {
                    "name": "CYP17",
                    "type": "synonym"
                },
                {
                    "name": "P450C17",
                    "type": "synonym"
                },
                {
                    "name": "S17AH",
                    "type": "synonym"
                }
            ],
            "record_id": "P05093-1",
            "evidence": [
                {
                    "id": "0111087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111087"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111087"
}