{
    "disease_id": "DOID:0111098",
    "recommended_name": {
        "id": "DOID:0111098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111098",
        "name": "Fanconi anemia complementation group B",
        "description": "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0111098",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111098",
            "name": "FACB",
            "description": ""
        },
        {
            "id": "DOID:0111098",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111098",
            "name": "FANCB",
            "description": ""
        },
        {
            "id": "DOID:0111098",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111098",
            "name": "Fanconi pancytopenia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "Fanconi anemia complementation group B",
            "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B."
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "FA2",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "FACB",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "FANCB",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "Fanconi Anemia, complementation group type B",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "Fanconi anaemia complementation group type B",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "Fanconi anemia complementation group B",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "Fanconi anemia complementation group type B",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "Fanconi anemia, complementation group B, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "name": "Fanconi anemia, complementation group B",
            "description": ""
        },
        {
            "id": "MIM:300514",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300514",
            "name": "Fanconi anemia complementation group B",
            "description": "Fanconi anemia complementation group B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111098"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111098",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111098",
            "categories": []
        },
        {
            "id": "MONDO:0010351",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010351",
            "categories": []
        },
        {
            "id": "MIM:300514",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300514",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A9F3-1",
            "uniprot_ac": "A0AB13A9F3",
            "uniprot_id": "A0AB13A9F3_DANRE",
            "refseq_ac": "NP_001410587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia B",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group B protein",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fancb",
                    "type": "recommended"
                },
                {
                    "name": "fancb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A9F3-1",
            "evidence": [
                {
                    "id": "0111098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XJY6-1",
            "uniprot_ac": "Q5XJY6",
            "uniprot_id": "FANCB_MOUSE",
            "refseq_ac": "NP_001139553",
            "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 B protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group B protein homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACB",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group B protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancb",
                    "type": "recommended"
                },
                {
                    "name": "Fancb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XJY6-1",
            "evidence": [
                {
                    "id": "0111098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NB91-1",
            "uniprot_ac": "Q8NB91",
            "uniprot_id": "FANCB_HUMAN",
            "refseq_ac": "NP_001018123",
            "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 B protein",
                    "type": "recommended"
                },
                {
                    "name": "FAAP95",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia complementation group B",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group B protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group B protein",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia-associated polypeptide of 95 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCB",
                    "type": "recommended"
                },
                {
                    "name": "FA2",
                    "type": "synonym"
                },
                {
                    "name": "FAAP90",
                    "type": "synonym"
                },
                {
                    "name": "FAAP95",
                    "type": "synonym"
                },
                {
                    "name": "FAB",
                    "type": "synonym"
                },
                {
                    "name": "FACB",
                    "type": "synonym"
                },
                {
                    "name": "FANCB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NB91-1",
            "evidence": [
                {
                    "id": "300514",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300514"
                },
                {
                    "id": "0111098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M142-1",
            "uniprot_ac": "A0ABK0M142",
            "uniprot_id": "A0ABK0M142_RAT",
            "refseq_ac": "NP_001178932",
            "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 B",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group B protein",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancb",
                    "type": "recommended"
                },
                {
                    "name": "Fancb",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561555",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M142-1",
            "evidence": [
                {
                    "id": "0111098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88846-1",
            "uniprot_ac": "O88846",
            "uniprot_id": "RNF4_RAT",
            "refseq_ac": "NP_062055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF4",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin ligase RNF4",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF4",
                    "type": "synonym"
                },
                {
                    "name": "Protein SNURF",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 4",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF4",
                    "type": "synonym"
                },
                {
                    "name": "SNURF",
                    "type": "synonym"
                },
                {
                    "name": "Small nuclear ring finger protein",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ring finger protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf4",
                    "type": "recommended"
                },
                {
                    "name": "Rnf4",
                    "type": "synonym"
                },
                {
                    "name": "Snurf",
                    "type": "synonym"
                }
            ],
            "record_id": "O88846-1",
            "evidence": [
                {
                    "id": "0111098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111098"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111098"
}