{
    "disease_id": "DOID:0060978",
    "recommended_name": {
        "id": "DOID:0060978",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060978",
        "name": "Fanconi anemia complementation group W",
        "description": "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0044325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044325",
            "name": "Fanconi anemia, complementation group W",
            "description": ""
        },
        {
            "id": "MONDO:0044325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044325",
            "name": "Fanconi anemia, complementation group W",
            "description": ""
        },
        {
            "id": "MONDO:0044325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044325",
            "name": "FANCW",
            "description": ""
        },
        {
            "id": "MIM:617784",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617784",
            "name": "Fanconi anemia, complementation group W",
            "description": "Fanconi anemia, complementation group W"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060978"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060978",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060978",
            "categories": []
        },
        {
            "id": "MONDO:0044325",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044325",
            "categories": []
        },
        {
            "id": "MIM:617784",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617784",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WE22-1",
            "uniprot_ac": "X1WE22",
            "uniprot_id": "X1WE22_DANRE",
            "refseq_ac": "XP_002667008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rfwd3",
                    "type": "recommended"
                },
                {
                    "name": "rfwd3",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WE22-1",
            "evidence": [
                {
                    "id": "0060978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIK8-1",
            "uniprot_ac": "Q8CIK8",
            "uniprot_id": "RFWD3_MOUSE",
            "refseq_ac": "NP_666330",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3",
                    "type": "synonym"
                },
                {
                    "name": "RING finger and WD repeat domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 201",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RFWD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rfwd3",
                    "type": "recommended"
                },
                {
                    "name": "Rfwd3",
                    "type": "synonym"
                },
                {
                    "name": "Rnf201",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIK8-1",
            "evidence": [
                {
                    "id": "0060978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PCD5-1",
            "uniprot_ac": "Q6PCD5",
            "uniprot_id": "RFWD3_HUMAN",
            "refseq_ac": "NP_060594",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3",
                    "type": "synonym"
                },
                {
                    "name": "RING finger and WD repeat domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 201",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RFWD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RFWD3",
                    "type": "recommended"
                },
                {
                    "name": "FANCW",
                    "type": "synonym"
                },
                {
                    "name": "RFWD3",
                    "type": "synonym"
                },
                {
                    "name": "RNF201",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PCD5-1",
            "evidence": [
                {
                    "id": "617784",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617784"
                },
                {
                    "id": "0060978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A1A6-1",
            "uniprot_ac": "A0A8I6A1A6",
            "uniprot_id": "A0A8I6A1A6_RAT",
            "refseq_ac": "NP_001389131",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RFWD3-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rfwd3",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305243",
                    "type": "synonym"
                },
                {
                    "name": "Rfwd3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A1A6-1",
            "evidence": [
                {
                    "id": "0060978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060978"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV99-1",
            "uniprot_ac": "Q9VV99",
            "uniprot_id": "Q9VV99_DROME",
            "refseq_ac": "NP_001261971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG13025-PB",
                    "type": "synonym"
                },
                {
                    "name": "mus302-PB",
                    "type": "synonym"
                },
                {
                    "name": "mutagen-sensitive 302, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mus302",
                    "type": "recommended"
                },
                {
                    "name": "CG13025",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13025",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13025",
                    "type": "synonym"
                },
                {
                    "name": "mus(3)302",
                    "type": "synonym"
                },
                {
                    "name": "mus302",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV99-1",
            "evidence": [
                {
                    "id": "0060978",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060978"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060978"
}