{
    "disease_id": "DOID:0060979",
    "recommended_name": {
        "id": "DOID:0060979",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060979",
        "name": "Fanconi anemia complementation group S",
        "description": "A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0054748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054748",
            "name": "Fanconi anemia, complementation group S",
            "description": ""
        },
        {
            "id": "MONDO:0054748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054748",
            "name": "Fanconi anemia, complementation group S",
            "description": ""
        },
        {
            "id": "MONDO:0054748",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054748",
            "name": "FANCS",
            "description": ""
        },
        {
            "id": "MIM:617883",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617883",
            "name": "Fanconi anemia, complementation group S",
            "description": "Fanconi anemia, complementation group S"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060979"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060979",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060979",
            "categories": []
        },
        {
            "id": "MONDO:0054748",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054748",
            "categories": []
        },
        {
            "id": "MIM:617883",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617883",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P48754-1",
            "uniprot_ac": "P48754",
            "uniprot_id": "BRCA1_MOUSE",
            "refseq_ac": "NP_033894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 1 susceptibility protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase BRCA1",
                    "type": "synonym"
                },
                {
                    "name": "breast and ovarian cancer susceptibility protein",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer associated 1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 1 susceptibility protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca1",
                    "type": "recommended"
                },
                {
                    "name": "Brca1",
                    "type": "synonym"
                }
            ],
            "record_id": "P48754-1",
            "evidence": [
                {
                    "id": "0060979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38398-1",
            "uniprot_ac": "P38398",
            "uniprot_id": "BRCA1_HUMAN",
            "refseq_ac": "NP_009228",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 1 susceptibility protein",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "BRCA1/BRCA2-containing complex, subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group S",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 53",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase BRCA1",
                    "type": "synonym"
                },
                {
                    "name": "breast and ovarian cancer susceptibility protein 1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer 1, early onset",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 1 susceptibility protein isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 1 susceptibility protein",
                    "type": "synonym"
                },
                {
                    "name": "early onset breast cancer 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 53",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRCA1",
                    "type": "recommended"
                },
                {
                    "name": "BRCA1",
                    "type": "synonym"
                },
                {
                    "name": "BRCAI",
                    "type": "synonym"
                },
                {
                    "name": "BRCC1",
                    "type": "synonym"
                },
                {
                    "name": "BROVCA1",
                    "type": "synonym"
                },
                {
                    "name": "FANCS",
                    "type": "synonym"
                },
                {
                    "name": "IRIS",
                    "type": "synonym"
                },
                {
                    "name": "PNCA4",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R53",
                    "type": "synonym"
                },
                {
                    "name": "PSCP",
                    "type": "synonym"
                },
                {
                    "name": "RNF53",
                    "type": "synonym"
                }
            ],
            "record_id": "P38398-1",
            "evidence": [
                {
                    "id": "617883",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617883"
                },
                {
                    "id": "0060979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54952-1",
            "uniprot_ac": "O54952",
            "uniprot_id": "BRCA1_RAT",
            "refseq_ac": "NP_036646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast cancer type 1 susceptibility protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase BRCA1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer 1, early onset",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer type 1 susceptibility protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brca1",
                    "type": "recommended"
                },
                {
                    "name": "BRCA-1",
                    "type": "synonym"
                },
                {
                    "name": "Brca1",
                    "type": "synonym"
                }
            ],
            "record_id": "O54952-1",
            "evidence": [
                {
                    "id": "0060979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14055-1",
            "uniprot_ac": "Q14055",
            "uniprot_id": "CO9A2_HUMAN",
            "refseq_ac": "NP_001843",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(IX) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha 2 type IX collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen IX, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(IX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IX, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL9A2",
                    "type": "recommended"
                },
                {
                    "name": "COL9A2",
                    "type": "synonym"
                },
                {
                    "name": "DJ39G22.4",
                    "type": "synonym"
                },
                {
                    "name": "EDM2",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "STL5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14055-1",
            "evidence": [
                {
                    "id": "0060979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060979"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060979"
}