{
    "disease_id": "DOID:0111095",
    "recommended_name": {
        "id": "DOID:0111095",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111095",
        "name": "Fanconi anemia complementation group A",
        "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "DOID:0111095",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111095",
            "name": "FANCA",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia complementation group A",
            "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway."
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "FANCA",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "FANCA Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "FANCA Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi Anemia, complementation group type a",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anaemia caused by mutation in FANCA",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anaemia complementation group type A",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia caused by mutation in FANCA",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia complementation group A",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia complementation group type A",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Estren-Dameshek variant of Fanconi Anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi Anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "name": "Fanconi anemia, complementation group A",
            "description": ""
        },
        {
            "id": "MIM:227650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/227650",
            "name": "Fanconi anemia, complementation group A",
            "description": "Fanconi anemia, complementation group A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111095"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111095",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111095",
            "categories": []
        },
        {
            "id": "MONDO:0009215",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009215",
            "categories": []
        },
        {
            "id": "MIM:227650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/227650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JL70-1",
            "uniprot_ac": "Q9JL70",
            "uniprot_id": "FANCA_MOUSE",
            "refseq_ac": "NP_058621",
            "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 A protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia group A protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fanca",
                    "type": "recommended"
                },
                {
                    "name": "FACA",
                    "type": "synonym"
                },
                {
                    "name": "Fanca",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JL70-1",
            "evidence": [
                {
                    "id": "0111095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15360-1",
            "uniprot_ac": "O15360",
            "uniprot_id": "FANCA_HUMAN",
            "refseq_ac": "NP_000126",
            "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 A protein",
                    "type": "recommended"
                },
                {
                    "name": "Fanconi anemia complementation group A",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group A protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group H",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, type 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACA",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group A protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCA",
                    "type": "recommended"
                },
                {
                    "name": "FA-H",
                    "type": "synonym"
                },
                {
                    "name": "FA1",
                    "type": "synonym"
                },
                {
                    "name": "FAA",
                    "type": "synonym"
                },
                {
                    "name": "FACA",
                    "type": "synonym"
                },
                {
                    "name": "FAH",
                    "type": "synonym"
                },
                {
                    "name": "FANCA",
                    "type": "synonym"
                },
                {
                    "name": "FANCH",
                    "type": "synonym"
                },
                {
                    "name": "FA",
                    "type": "synonym"
                }
            ],
            "record_id": "O15360-1",
            "evidence": [
                {
                    "id": "227650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/227650"
                },
                {
                    "id": "0111095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111095"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AGX8-1",
            "uniprot_ac": "A0A8I6AGX8",
            "uniprot_id": "A0A8I6AGX8_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 A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fanca",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AGX8-1",
            "evidence": [
                {
                    "id": "0111095",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111095"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111095"
}