{
    "disease_id": "DOID:0110846",
    "recommended_name": {
        "id": "DOID:0110846",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110846",
        "name": "xeroderma pigmentosum group E",
        "description": "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110846",
            "name": "XP group E",
            "description": ""
        },
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110846",
            "name": "XP5",
            "description": ""
        },
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110846",
            "name": "XPE",
            "description": ""
        },
        {
            "id": "DOID:0110846",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110846",
            "name": "xeroderma pigmentosum V",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum group E",
            "description": "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer."
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XP-E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XP5",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "XPE",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum group E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum, complementation group type E",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum, group E, DDB-negative subtype",
            "description": ""
        },
        {
            "id": "MONDO:0010213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "name": "xeroderma pigmentosum, type 5",
            "description": ""
        },
        {
            "id": "MIM:278740",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278740",
            "name": "Xeroderma pigmentosum complementation group E",
            "description": "Xeroderma pigmentosum complementation group E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110846"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110846",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110846",
            "categories": []
        },
        {
            "id": "MONDO:0010213",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010213",
            "categories": []
        },
        {
            "id": "MIM:278740",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278740",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2YDS1-1",
            "uniprot_ac": "Q2YDS1",
            "uniprot_id": "DDB2_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": "DNA damage-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Damage-specific DNA-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ddb2",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-45f10.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2YDS1-1",
            "evidence": [
                {
                    "id": "0110846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99J79-1",
            "uniprot_ac": "Q99J79",
            "uniprot_id": "DDB2_MOUSE",
            "refseq_ac": "NP_082395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA damage-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DNA damage-binding protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA damage-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Damage-specific DNA-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddb2",
                    "type": "recommended"
                },
                {
                    "name": "2610043A19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ddb2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99J79-1",
            "evidence": [
                {
                    "id": "0110846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92466-1",
            "uniprot_ac": "Q92466",
            "uniprot_id": "DDB2_HUMAN",
            "refseq_ac": "NP_000098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA damage-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DDB p48 subunit",
                    "type": "synonym"
                },
                {
                    "name": "DDBb",
                    "type": "synonym"
                },
                {
                    "name": "DNA damage-binding protein 2 isoform WT",
                    "type": "synonym"
                },
                {
                    "name": "DNA damage-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Damage-specific DNA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "UV-DDB 2",
                    "type": "synonym"
                },
                {
                    "name": "UV-damaged DNA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "damage-specific DNA binding protein 2, 48kDa",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group E protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDB2",
                    "type": "recommended"
                },
                {
                    "name": "DDB2",
                    "type": "synonym"
                },
                {
                    "name": "DDBB",
                    "type": "synonym"
                },
                {
                    "name": "UV-DDB2",
                    "type": "synonym"
                },
                {
                    "name": "XPE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92466-1",
            "evidence": [
                {
                    "id": "278740",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278740"
                },
                {
                    "id": "0110846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZR08-1",
            "uniprot_ac": "D3ZR08",
            "uniprot_id": "D3ZR08_RAT",
            "refseq_ac": "NP_001258275",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA damage-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DNA damage-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Damage-specific DNA-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddb2",
                    "type": "recommended"
                },
                {
                    "name": "Ddb2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZR08-1",
            "evidence": [
                {
                    "id": "0110846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110846"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54311-1",
            "uniprot_ac": "P54311",
            "uniprot_id": "GBB1_RAT",
            "refseq_ac": "NP_112249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Guanine nucleotide-binding protein beta 1",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, beta 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein, beta-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnb1",
                    "type": "recommended"
                },
                {
                    "name": "Gnb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54311-1",
            "evidence": [
                {
                    "id": "0110846",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110846"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110846"
}