{
    "disease_id": "DOID:0110847",
    "recommended_name": {
        "id": "DOID:0110847",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110847",
        "name": "xeroderma pigmentosum variant type",
        "description": "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110847",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110847",
            "name": "XPV",
            "description": ""
        },
        {
            "id": "DOID:0110847",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110847",
            "name": "photosensitivity with defective DNA synthesis",
            "description": ""
        },
        {
            "id": "DOID:0110847",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110847",
            "name": "xeroderma pigmentosum with normal DNA repair rates",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum variant type",
            "description": "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer."
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "XPV",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "photosensitivity with defective DNA synthesis",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum variant type",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum with normal DNA repair rates",
            "description": ""
        },
        {
            "id": "MONDO:0010214",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "name": "xeroderma pigmentosum, variant type",
            "description": ""
        },
        {
            "id": "MIM:278750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278750",
            "name": "Xeroderma pigmentosum variant type",
            "description": "Xeroderma pigmentosum variant type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110847"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110847",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110847",
            "categories": []
        },
        {
            "id": "MONDO:0010214",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010214",
            "categories": []
        },
        {
            "id": "MIM:278750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q7Z9-1",
            "uniprot_ac": "F1Q7Z9",
            "uniprot_id": "F1Q7Z9_DANRE",
            "refseq_ac": "NP_001035337",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase eta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase eta",
                    "type": "synonym"
                },
                {
                    "name": "RAD30 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "polh",
                    "type": "recommended"
                },
                {
                    "name": "fc50a12",
                    "type": "synonym"
                },
                {
                    "name": "polh",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc50a12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136881",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152642",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q7Z9-1",
            "evidence": [
                {
                    "id": "0110847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJN0-1",
            "uniprot_ac": "Q9JJN0",
            "uniprot_id": "POLH_MOUSE",
            "refseq_ac": "NP_109640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase eta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase eta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase eta",
                    "type": "synonym"
                },
                {
                    "name": "RAD30 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum variant type protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum variant type protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polh",
                    "type": "recommended"
                },
                {
                    "name": "Polh",
                    "type": "synonym"
                },
                {
                    "name": "RAD30A",
                    "type": "synonym"
                },
                {
                    "name": "Rad30a",
                    "type": "synonym"
                },
                {
                    "name": "XPV",
                    "type": "synonym"
                },
                {
                    "name": "Xpv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJN0-1",
            "evidence": [
                {
                    "id": "0110847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y253-1",
            "uniprot_ac": "Q9Y253",
            "uniprot_id": "POLH_HUMAN",
            "refseq_ac": "NP_001278899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase eta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase eta isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase eta transcript",
                    "type": "synonym"
                },
                {
                    "name": "RAD30 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum variant type protein",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), eta",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) eta",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum variant type protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLH",
                    "type": "recommended"
                },
                {
                    "name": "POLH",
                    "type": "synonym"
                },
                {
                    "name": "RAD30A",
                    "type": "synonym"
                },
                {
                    "name": "RAD30",
                    "type": "synonym"
                },
                {
                    "name": "XP-V",
                    "type": "synonym"
                },
                {
                    "name": "XPV",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y253-1",
            "evidence": [
                {
                    "id": "278750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278750"
                },
                {
                    "id": "0110847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04049-1",
            "uniprot_ac": "Q04049",
            "uniprot_id": "POLH_YEAST",
            "refseq_ac": "NP_010707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase eta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase eta",
                    "type": "synonym"
                },
                {
                    "name": "Radiation-sensitive protein 30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD30",
                    "type": "recommended"
                },
                {
                    "name": "DBH1",
                    "type": "synonym"
                },
                {
                    "name": "RAD30",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04049-1",
            "evidence": [
                {
                    "id": "0110847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADZ0-1",
            "uniprot_ac": "D4ADZ0",
            "uniprot_id": "D4ADZ0_RAT",
            "refseq_ac": "NP_001101674",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase eta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase eta",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase eta",
                    "type": "synonym"
                },
                {
                    "name": "RAD30 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), eta (RAD 30 related)",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) eta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polh",
                    "type": "recommended"
                },
                {
                    "name": "Polh",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ADZ0-1",
            "evidence": [
                {
                    "id": "0110847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110847"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNX1-1",
            "uniprot_ac": "Q9VNX1",
            "uniprot_id": "POLH_DROME",
            "refseq_ac": "NP_649371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase eta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "CG7143-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase eta",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-eta",
                    "type": "synonym"
                },
                {
                    "name": "PolH-PA",
                    "type": "synonym"
                },
                {
                    "name": "polymerase eta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolH",
                    "type": "recommended"
                },
                {
                    "name": "AAF51794",
                    "type": "synonym"
                },
                {
                    "name": "CG7143",
                    "type": "synonym"
                },
                {
                    "name": "DNA pol eta",
                    "type": "synonym"
                },
                {
                    "name": "DNA pol-eta",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-eta",
                    "type": "synonym"
                },
                {
                    "name": "DNApolH",
                    "type": "synonym"
                },
                {
                    "name": "DNApoleta",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7143",
                    "type": "synonym"
                },
                {
                    "name": "Dmpol eta",
                    "type": "synonym"
                },
                {
                    "name": "POLH",
                    "type": "synonym"
                },
                {
                    "name": "PolH",
                    "type": "synonym"
                },
                {
                    "name": "dPoleta",
                    "type": "synonym"
                },
                {
                    "name": "drad30A",
                    "type": "synonym"
                },
                {
                    "name": "pol eta",
                    "type": "synonym"
                },
                {
                    "name": "pol h",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNX1-1",
            "evidence": [
                {
                    "id": "0110847",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110847"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110847"
}