{
    "disease_id": "DOID:0111094",
    "recommended_name": {
        "id": "DOID:0111094",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111094",
        "name": "Fanconi anemia complementation group N",
        "description": "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111094",
            "name": "FANCN",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi anemia complementation group N",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene."
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "FANCN",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi Anemia, complementation group type N",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi anaemia caused by mutation in PALB2",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi anaemia complementation group type N",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi anemia caused by mutation in PALB2",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi anemia complementation group N",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi anemia complementation group type N",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "PALB2 Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "PALB2 Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012565",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "name": "Fanconi anemia, complementation group N",
            "description": ""
        },
        {
            "id": "MIM:610832",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610832",
            "name": "Fanconi anemia complementation group N",
            "description": "Fanconi anemia complementation group N"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111094"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111094",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111094",
            "categories": []
        },
        {
            "id": "MONDO:0012565",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012565",
            "categories": []
        },
        {
            "id": "MIM:610832",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610832",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P7S0-1",
            "uniprot_ac": "A0A8M9P7S0",
            "uniprot_id": "A0A8M9P7S0_DANRE",
            "refseq_ac": "XP_021326787",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Partner and localizer of BRCA2",
                    "type": "synonym"
                },
                {
                    "name": "partner and localizer of BRCA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "palb2",
                    "type": "recommended"
                },
                {
                    "name": "palb2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P7S0-1",
            "evidence": [
                {
                    "id": "0111094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U0P1-1",
            "uniprot_ac": "Q3U0P1",
            "uniprot_id": "PALB2_MOUSE",
            "refseq_ac": "NP_001074707",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Partner and localizer of BRCA2",
                    "type": "recommended"
                },
                {
                    "name": "partner and localizer of BRCA2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Palb2",
                    "type": "recommended"
                },
                {
                    "name": "Palb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U0P1-1",
            "evidence": [
                {
                    "id": "0111094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86YC2-1",
            "uniprot_ac": "Q86YC2",
            "uniprot_id": "PALB2_HUMAN",
            "refseq_ac": "NP_078951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Partner and localizer of BRCA2",
                    "type": "recommended"
                },
                {
                    "name": "mutant partner and localizer of BRCA2",
                    "type": "synonym"
                },
                {
                    "name": "partner and localizer of BRCA2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PALB2",
                    "type": "recommended"
                },
                {
                    "name": "BROVCA5",
                    "type": "synonym"
                },
                {
                    "name": "FANCN",
                    "type": "synonym"
                },
                {
                    "name": "PALB2",
                    "type": "synonym"
                },
                {
                    "name": "PNCA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86YC2-1",
            "evidence": [
                {
                    "id": "610832",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610832"
                },
                {
                    "id": "0111094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111094"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZM14-1",
            "uniprot_ac": "D3ZM14",
            "uniprot_id": "D3ZM14_RAT",
            "refseq_ac": "NP_001178532",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Partner and localizer of BRCA2",
                    "type": "synonym"
                },
                {
                    "name": "partner and localizer of BRCA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Palb2",
                    "type": "recommended"
                },
                {
                    "name": "Palb2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1304759",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZM14-1",
            "evidence": [
                {
                    "id": "0111094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111094"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111094"
}