{
    "disease_id": "DOID:0111092",
    "recommended_name": {
        "id": "DOID:0111092",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111092",
        "name": "Fanconi anemia complementation group P",
        "description": "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111092",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111092",
            "name": "FANCP",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anemia complementation group P",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene."
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "FANCP",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi Anemia, complementation group type P",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anaemia caused by mutation in SLX4",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anaemia caused by mutation in Slx4",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anaemia complementation group type P",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anemia caused by mutation in SLX4",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anemia caused by mutation in Slx4",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anemia complementation group type P",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "SLX4 Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "SLX4 Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Slx4 Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Slx4 Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0013499",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "name": "Fanconi anemia, complementation group P",
            "description": ""
        },
        {
            "id": "MIM:613951",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613951",
            "name": "Fanconi anemia complementation group P",
            "description": "Fanconi anemia complementation group P"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111092"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111092",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111092",
            "categories": []
        },
        {
            "id": "MONDO:0013499",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013499",
            "categories": []
        },
        {
            "id": "MIM:613951",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613951",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RN23-1",
            "uniprot_ac": "A0A8M1RN23",
            "uniprot_id": "A0A8M1RN23_DANRE",
            "refseq_ac": "XP_003201146",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structure-specific endonuclease subunit SLX4",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit SLX4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slx4",
                    "type": "recommended"
                },
                {
                    "name": "slx4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RN23-1",
            "evidence": [
                {
                    "id": "0111092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P1D7-1",
            "uniprot_ac": "Q6P1D7",
            "uniprot_id": "SLX4_MOUSE",
            "refseq_ac": "NP_803423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structure-specific endonuclease subunit SLX4",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit SLX4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit SLX4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slx4",
                    "type": "recommended"
                },
                {
                    "name": "Btbd12",
                    "type": "synonym"
                },
                {
                    "name": "D16Bwg1016e",
                    "type": "synonym"
                },
                {
                    "name": "Slx4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P1D7-1",
            "evidence": [
                {
                    "id": "0111092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IY92-1",
            "uniprot_ac": "Q8IY92",
            "uniprot_id": "SLX4_HUMAN",
            "refseq_ac": "NP_115820",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structure-specific endonuclease subunit SLX4",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit SLX4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLX4",
                    "type": "recommended"
                },
                {
                    "name": "BTBD12",
                    "type": "synonym"
                },
                {
                    "name": "FANCP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1784",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1987",
                    "type": "synonym"
                },
                {
                    "name": "MUS312",
                    "type": "synonym"
                },
                {
                    "name": "SLX4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IY92-1",
            "evidence": [
                {
                    "id": "613951",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613951"
                },
                {
                    "id": "0111092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LU18-1",
            "uniprot_ac": "F1LU18",
            "uniprot_id": "F1LU18_RAT",
            "refseq_ac": "NP_001385580",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structure-specific endonuclease subunit SLX4",
                    "type": "recommended"
                },
                {
                    "name": "BTB (POZ) domain containing 12",
                    "type": "synonym"
                },
                {
                    "name": "BTB/POZ domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "SLX4 structure-specific endonuclease subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "structure-specific endonuclease subunit SLX4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slx4",
                    "type": "recommended"
                },
                {
                    "name": "Btbd12",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566009",
                    "type": "synonym"
                },
                {
                    "name": "Slx4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LU18-1",
            "evidence": [
                {
                    "id": "0111092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS48-1",
            "uniprot_ac": "Q9VS48",
            "uniprot_id": "SLX4_DROME",
            "refseq_ac": "NP_648104",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Structure-specific endonuclease subunit SLX4",
                    "type": "recommended"
                },
                {
                    "name": "CG8601-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mutagen-sensitive protein 312",
                    "type": "synonym"
                },
                {
                    "name": "mus312-PA",
                    "type": "synonym"
                },
                {
                    "name": "mutagen-sensitive 312, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mus312",
                    "type": "recommended"
                },
                {
                    "name": "CG8601",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8601",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8601",
                    "type": "synonym"
                },
                {
                    "name": "MUS312",
                    "type": "synonym"
                },
                {
                    "name": "Mus312",
                    "type": "synonym"
                },
                {
                    "name": "SLX4",
                    "type": "synonym"
                },
                {
                    "name": "mus(3)312",
                    "type": "synonym"
                },
                {
                    "name": "mus312",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS48-1",
            "evidence": [
                {
                    "id": "0111092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111092"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111092"
}