{
    "disease_id": "DOID:0111082",
    "recommended_name": {
        "id": "DOID:0111082",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111082",
        "name": "Fanconi anemia complementation group L",
        "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16."
    },
    "synonyms": [
        {
            "id": "DOID:0111082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111082",
            "name": "FANCL",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi anemia complementation group L",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene."
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "FANCL",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "FANCL Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "FANCL Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi Anemia, complementation group type 50",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi anaemia caused by mutation in FANCL",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi anaemia complementation group type L",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi anemia caused by mutation in FANCL",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi anemia complementation group L",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi anemia complementation group type L",
            "description": ""
        },
        {
            "id": "MONDO:0013566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "name": "Fanconi anemia, complementation group L",
            "description": ""
        },
        {
            "id": "MIM:614083",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614083",
            "name": "Fanconi anemia complementation group L",
            "description": "Fanconi anemia complementation group L"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111082"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111082",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111082",
            "categories": []
        },
        {
            "id": "MONDO:0013566",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013566",
            "categories": []
        },
        {
            "id": "MIM:614083",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614083",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CR14-1",
            "uniprot_ac": "Q9CR14",
            "uniprot_id": "FANCL_MOUSE",
            "refseq_ac": "NP_001264202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase FANCL",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase FANCL isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase FANCL",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group L protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "PHD finger protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Proliferation of germ cells protein",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase FANCL",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group L protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "germ cell deficient",
                    "type": "synonym"
                },
                {
                    "name": "proliferation of germ cells protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancl",
                    "type": "recommended"
                },
                {
                    "name": "2010322C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230118H11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fancl",
                    "type": "synonym"
                },
                {
                    "name": "Phf9",
                    "type": "synonym"
                },
                {
                    "name": "Pog",
                    "type": "synonym"
                },
                {
                    "name": "gcd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR14-1",
            "evidence": [
                {
                    "id": "0111082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NW38-1",
            "uniprot_ac": "Q9NW38",
            "uniprot_id": "FANCL_HUMAN",
            "refseq_ac": "NP_001108108",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase FANCL",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase FANCL isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase FANCL",
                    "type": "synonym"
                },
                {
                    "name": "FAAP43",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia complementation group L",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group L protein",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia-associated polypeptide of 43 kDa",
                    "type": "synonym"
                },
                {
                    "name": "PHD finger protein 9",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase FANCL",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group L protein",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia-associated polypeptide of 43 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCL",
                    "type": "recommended"
                },
                {
                    "name": "FAAP43",
                    "type": "synonym"
                },
                {
                    "name": "FANCL",
                    "type": "synonym"
                },
                {
                    "name": "PHF9",
                    "type": "synonym"
                },
                {
                    "name": "POG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NW38-1",
            "evidence": [
                {
                    "id": "614083",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614083"
                },
                {
                    "id": "0111082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZAU3-1",
            "uniprot_ac": "D3ZAU3",
            "uniprot_id": "D3ZAU3_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": "E3 ubiquitin-protein ligase FANCL",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase FANCL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancl",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZAU3-1",
            "evidence": [
                {
                    "id": "0111082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T913-1",
            "uniprot_ac": "Q8T913",
            "uniprot_id": "FANCL_DROME",
            "refseq_ac": "NP_001287266",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Fancl",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG12812-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fancl-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group L protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "fancl, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancl",
                    "type": "recommended"
                },
                {
                    "name": "CG12812",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12812",
                    "type": "synonym"
                },
                {
                    "name": "FAL",
                    "type": "synonym"
                },
                {
                    "name": "FANCL",
                    "type": "synonym"
                },
                {
                    "name": "Fancl",
                    "type": "synonym"
                },
                {
                    "name": "fancl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T913-1",
            "evidence": [
                {
                    "id": "0111082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111082"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111082"
}