{
    "disease_id": "DOID:0111084",
    "recommended_name": {
        "id": "DOID:0111084",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111084",
        "name": "Fanconi anemia complementation group E",
        "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111084",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111084",
            "name": "FACE",
            "description": ""
        },
        {
            "id": "DOID:0111084",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111084",
            "name": "FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia complementation group E",
            "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2."
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FACE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FANCE Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "FANCE Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi Anemia, complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anaemia caused by mutation in FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anaemia complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia caused by mutation in FANCE",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia complementation group E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "face",
            "description": ""
        },
        {
            "id": "MONDO:0010953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "name": "Fanconi anemia, complementation group E",
            "description": ""
        },
        {
            "id": "MIM:600901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600901",
            "name": "Fanconi anemia complementation group E",
            "description": "Fanconi anemia complementation group E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111084"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111084",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111084",
            "categories": []
        },
        {
            "id": "MONDO:0010953",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010953",
            "categories": []
        },
        {
            "id": "MIM:600901",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600901",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JJD3-1",
            "uniprot_ac": "B8JJD3",
            "uniprot_id": "B8JJD3_MOUSE",
            "refseq_ac": "NP_001157291",
            "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 E protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fance",
                    "type": "recommended"
                },
                {
                    "name": "2810451D06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fance",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JJD3-1",
            "evidence": [
                {
                    "id": "0111084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HB96-1",
            "uniprot_ac": "Q9HB96",
            "uniprot_id": "FANCE_HUMAN",
            "refseq_ac": "NP_068741",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group E protein",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia complementation group E",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group E protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group E protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCE",
                    "type": "recommended"
                },
                {
                    "name": "FACE",
                    "type": "synonym"
                },
                {
                    "name": "FAE",
                    "type": "synonym"
                },
                {
                    "name": "FANCE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HB96-1",
            "evidence": [
                {
                    "id": "600901",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600901"
                },
                {
                    "id": "0111084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M286-1",
            "uniprot_ac": "F1M286",
            "uniprot_id": "F1M286_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": "FA complementation group E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fance",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M286-1",
            "evidence": [
                {
                    "id": "0111084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111084"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111084"
}