{
    "disease_id": "DOID:0111091",
    "recommended_name": {
        "id": "DOID:0111091",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111091",
        "name": "Fanconi anemia complementation group I",
        "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0111091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111091",
            "name": "FANCI",
            "description": ""
        },
        {
            "id": "MONDO:0012186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "name": "Fanconi anemia complementation group I",
            "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein."
        },
        {
            "id": "MONDO:0012186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "name": "FANCI",
            "description": ""
        },
        {
            "id": "MONDO:0012186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "name": "Fanconi Anemia, complementation group type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "name": "Fanconi anaemia complementation group type I",
            "description": ""
        },
        {
            "id": "MONDO:0012186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "name": "Fanconi anemia complementation group I",
            "description": ""
        },
        {
            "id": "MONDO:0012186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "name": "Fanconi anemia complementation group type I",
            "description": ""
        },
        {
            "id": "MONDO:0012186",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "name": "Fanconi anemia, complementation group I",
            "description": ""
        },
        {
            "id": "MIM:609053",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609053",
            "name": "Fanconi anemia complementation group I",
            "description": "Fanconi anemia complementation group I"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111091"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111091",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111091",
            "categories": []
        },
        {
            "id": "MONDO:0012186",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012186",
            "categories": []
        },
        {
            "id": "MIM:609053",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609053",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PUU2-1",
            "uniprot_ac": "A0A8M9PUU2",
            "uniprot_id": "A0A8M9PUU2_DANRE",
            "refseq_ac": "XP_021326126",
            "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 I protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fanci",
                    "type": "recommended"
                },
                {
                    "name": "fanci",
                    "type": "synonym"
                },
                {
                    "name": "fc21c10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc21c10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152941",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PUU2-1",
            "evidence": [
                {
                    "id": "0111091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K368-1",
            "uniprot_ac": "Q8K368",
            "uniprot_id": "FANCI_MOUSE",
            "refseq_ac": "NP_666058",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group I protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group I protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fanci",
                    "type": "recommended"
                },
                {
                    "name": "Fanci",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K368-1",
            "evidence": [
                {
                    "id": "0111091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVI1-3",
            "uniprot_ac": "Q9NVI1",
            "uniprot_id": "FANCI_HUMAN",
            "refseq_ac": "NP_001106849",
            "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 I protein",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia complementation group I",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group I protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACI",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group I protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCI",
                    "type": "recommended"
                },
                {
                    "name": "FANCI",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1794",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVI1-3",
            "evidence": [
                {
                    "id": "609053",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609053"
                },
                {
                    "id": "0111091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z840-1",
            "uniprot_ac": "D3Z840",
            "uniprot_id": "D3Z840_RAT",
            "refseq_ac": "NP_001414599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FA complementation group I",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group I protein",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fanci",
                    "type": "recommended"
                },
                {
                    "name": "Fanci",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z840-1",
            "evidence": [
                {
                    "id": "0111091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7L1-1",
            "uniprot_ac": "A1Z7L1",
            "uniprot_id": "FANCI_DROME",
            "refseq_ac": "NP_610429",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group I protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG13745-PA",
                    "type": "synonym"
                },
                {
                    "name": "FANCI-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACI",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia complementation group I homologue",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia complementation group I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fanci",
                    "type": "recommended"
                },
                {
                    "name": "CG13745",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13745",
                    "type": "synonym"
                },
                {
                    "name": "FANCI",
                    "type": "synonym"
                },
                {
                    "name": "fanci",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7L1-1",
            "evidence": [
                {
                    "id": "0111091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111091"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111091"
}