{
    "disease_id": "DOID:0060386",
    "recommended_name": {
        "id": "DOID:0060386",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060386",
        "name": "Chilblain lupus",
        "description": "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "name": "chilblain lupus 1",
            "description": "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene."
        },
        {
            "id": "MONDO:0012500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "name": "chilblain lupus",
            "description": ""
        },
        {
            "id": "MONDO:0012500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "name": "TREX1 chilblain lupus",
            "description": ""
        },
        {
            "id": "MONDO:0012500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "name": "chilblain lupus 1",
            "description": ""
        },
        {
            "id": "MONDO:0012500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "name": "chilblain lupus caused by mutation in TREX1",
            "description": ""
        },
        {
            "id": "MONDO:0012500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "name": "chilblain lupus type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "name": "CHBL1",
            "description": ""
        },
        {
            "id": "MONDO:0013739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013739",
            "name": "chilblain lupus 2",
            "description": "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene."
        },
        {
            "id": "MONDO:0013739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013739",
            "name": "Chilblain lupus type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013739",
            "name": "SAMHD1 chilblain lupus",
            "description": ""
        },
        {
            "id": "MONDO:0013739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013739",
            "name": "chilblain lupus 2",
            "description": ""
        },
        {
            "id": "MONDO:0013739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013739",
            "name": "chilblain lupus caused by mutation in SAMHD1",
            "description": ""
        },
        {
            "id": "MONDO:0013739",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013739",
            "name": "CHBL2",
            "description": ""
        },
        {
            "id": "MIM:610448",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610448",
            "name": "Chilblain lupus 1",
            "description": "Chilblain lupus 1"
        },
        {
            "id": "MIM:614415",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614415",
            "name": "Chilblain lupus 2",
            "description": "Chilblain lupus 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060386"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060386",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060386",
            "categories": []
        },
        {
            "id": "MONDO:0012500",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012500",
            "categories": []
        },
        {
            "id": "MONDO:0013739",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013739",
            "categories": []
        },
        {
            "id": "MIM:610448",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610448",
            "categories": []
        },
        {
            "id": "MIM:614415",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614415",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q502K2-1",
            "uniprot_ac": "Q502K2",
            "uniprot_id": "SAMH1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.5.-",
                    "type": "synonym"
                },
                {
                    "name": "dNTPase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "samhd1",
                    "type": "recommended"
                },
                {
                    "name": "si:dkeyp-44b8.8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q502K2-1",
            "evidence": [
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60710-1",
            "uniprot_ac": "Q60710",
            "uniprot_id": "SAMH1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Interferon-gamma-inducible protein Mg11",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain and HD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dNTPase",
                    "type": "synonym"
                },
                {
                    "name": "mSAMHD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Samhd1",
                    "type": "recommended"
                },
                {
                    "name": "Mg21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60710-1",
            "evidence": [
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91XB0-1",
            "uniprot_ac": "Q91XB0",
            "uniprot_id": "TREX1_MOUSE",
            "refseq_ac": "NP_001012236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Three-prime repair exonuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' exonuclease TREX1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "DNase III",
                    "type": "synonym"
                },
                {
                    "name": "three prime exonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "three-prime repair exonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "trophoblast expressed 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trex1",
                    "type": "recommended"
                },
                {
                    "name": "Trex1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XB0-1",
            "evidence": [
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3Z3-1",
            "uniprot_ac": "Q9Y3Z3",
            "uniprot_id": "SAMH1_HUMAN",
            "refseq_ac": "NP_056289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.5.-",
                    "type": "synonym"
                },
                {
                    "name": "DCIP",
                    "type": "synonym"
                },
                {
                    "name": "Dendritic cell-derived IFNG-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "MOP-5",
                    "type": "synonym"
                },
                {
                    "name": "Monocyte protein 5",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain and HD domain 1",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain and HD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dNTPase",
                    "type": "synonym"
                },
                {
                    "name": "dendritic cell-derived IFNG-induced protein",
                    "type": "synonym"
                },
                {
                    "name": "deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
                    "type": "synonym"
                },
                {
                    "name": "hSAMHD1",
                    "type": "synonym"
                },
                {
                    "name": "monocyte protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAMHD1",
                    "type": "recommended"
                },
                {
                    "name": "CHBL2",
                    "type": "synonym"
                },
                {
                    "name": "DCIP",
                    "type": "synonym"
                },
                {
                    "name": "HDDC1",
                    "type": "synonym"
                },
                {
                    "name": "MOP-5",
                    "type": "synonym"
                },
                {
                    "name": "MOP5",
                    "type": "synonym"
                },
                {
                    "name": "SAMHD1",
                    "type": "synonym"
                },
                {
                    "name": "SBBI88",
                    "type": "synonym"
                },
                {
                    "name": "hSAMHD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3Z3-1",
            "evidence": [
                {
                    "id": "614415",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614415"
                },
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NSU2-3",
            "uniprot_ac": "Q9NSU2",
            "uniprot_id": "TREX1_HUMAN",
            "refseq_ac": "NP_009179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Three-prime repair exonuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "3' repair exonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exonuclease TREX1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "DNase III",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyribonuclease III",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease III",
                    "type": "synonym"
                },
                {
                    "name": "three-prime repair exonuclease 1 isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TREX1",
                    "type": "recommended"
                },
                {
                    "name": "AGS1",
                    "type": "synonym"
                },
                {
                    "name": "CRV",
                    "type": "synonym"
                },
                {
                    "name": "DRN3",
                    "type": "synonym"
                },
                {
                    "name": "HERNS",
                    "type": "synonym"
                },
                {
                    "name": "RVCLS",
                    "type": "synonym"
                },
                {
                    "name": "TREX1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NSU2-3",
            "evidence": [
                {
                    "id": "610448",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610448"
                },
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z898-1",
            "uniprot_ac": "D3Z898",
            "uniprot_id": "D3Z898_RAT",
            "refseq_ac": "NP_001178672",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
                    "type": "recommended"
                },
                {
                    "name": "SAM domain and HD domain, 1",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain and HD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "deoxynucleoside triphosphate triphosphohydrolase SAMHD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Samhd1",
                    "type": "recommended"
                },
                {
                    "name": "Samhd1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z898-1",
            "evidence": [
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BK16-1",
            "uniprot_ac": "Q5BK16",
            "uniprot_id": "Q5BK16_RAT",
            "refseq_ac": "NP_001020160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "exodeoxyribonuclease III",
                    "type": "recommended"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "three-prime repair exonuclease 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trex1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309596",
                    "type": "synonym"
                },
                {
                    "name": "Trex1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BK16-1",
            "evidence": [
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVY4-1",
            "uniprot_ac": "Q9VVY4",
            "uniprot_id": "Q9VVY4_DROME",
            "refseq_ac": "NP_001137974",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.5.1",
                    "type": "synonym"
                },
                {
                    "name": "CG9670-PB",
                    "type": "synonym"
                },
                {
                    "name": "Falten, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Falten, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Falten, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "fal-PB",
                    "type": "synonym"
                },
                {
                    "name": "falten, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fal",
                    "type": "recommended"
                },
                {
                    "name": "CG9670",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9670",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9670",
                    "type": "synonym"
                },
                {
                    "name": "Q9VVY4_DROME",
                    "type": "synonym"
                },
                {
                    "name": "fal",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVY4-1",
            "evidence": [
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQJ7-1",
            "uniprot_ac": "Q9VQJ7",
            "uniprot_id": "Q9VQJ7_DROME",
            "refseq_ac": "NP_001285571",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Exonuclease domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3165-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3165",
                    "type": "recommended"
                },
                {
                    "name": "CG3165",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3165",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3165",
                    "type": "synonym"
                },
                {
                    "name": "TREX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQJ7-1",
            "evidence": [
                {
                    "id": "0060386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060386"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060386"
}