{
    "disease_id": "DOID:0060655",
    "recommended_name": {
        "id": "DOID:0060655",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060655",
        "name": "autosomal recessive congenital ichthyosis",
        "description": "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization."
    },
    "synonyms": [
        {
            "id": "DOID:0060655",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060655",
            "name": "ARCI",
            "description": ""
        },
        {
            "id": "DOID:0060655",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060655",
            "name": "lamellar ichthyosis",
            "description": ""
        },
        {
            "id": "DOID:0060655",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060655",
            "name": "non bullous congenital ichthyosiform erythroderma",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis 1",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene."
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ARCI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "LI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "collodion fetus",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "collodion foetus",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "desquamation of newborn",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis lamellar 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, lamellar, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "lamellar exfoliation of newborn",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "lamellar ichthyosis, type 1",
            "description": ""
        },
        {
            "id": "MIM:242300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242300",
            "name": "Ichthyosis, congenital, autosomal recessive 1",
            "description": "Ichthyosis, congenital, autosomal recessive 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060656",
            "label": "autosomal recessive congenital ichthyosis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060710",
            "label": "autosomal recessive congenital ichthyosis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060711",
            "label": "autosomal recessive congenital ichthyosis 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060712",
            "label": "autosomal recessive congenital ichthyosis 4A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060713",
            "label": "autosomal recessive congenital ichthyosis 4B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060714",
            "label": "autosomal recessive congenital ichthyosis 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060715",
            "label": "autosomal recessive congenital ichthyosis 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060717",
            "label": "autosomal recessive congenital ichthyosis 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060718",
            "label": "autosomal recessive congenital ichthyosis 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060719",
            "label": "autosomal recessive congenital ichthyosis 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060720",
            "label": "autosomal recessive congenital ichthyosis 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080257",
            "label": "autosomal recessive congenital ichthyosis 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080258",
            "label": "autosomal recessive congenital ichthyosis 14",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060719",
        "DOID:0060655",
        "DOID:0060714",
        "DOID:0060715",
        "DOID:0060656",
        "DOID:0060711",
        "DOID:0060718",
        "DOID:0060713",
        "DOID:0080258",
        "DOID:0060720",
        "DOID:0060717",
        "DOID:0060710",
        "DOID:0080257",
        "DOID:0060712"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060655",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060655",
            "categories": []
        },
        {
            "id": "MONDO:0009441",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "categories": []
        },
        {
            "id": "MIM:242300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/242300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7T5J6-1",
            "uniprot_ac": "A0A8N7T5J6",
            "uniprot_id": "A0A8N7T5J6_DANRE",
            "refseq_ac": "XP_687003",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ABC transporter G family member 23 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abch1",
                    "type": "recommended"
                },
                {
                    "name": "abch1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T5J6-1",
            "evidence": [
                {
                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89094-1",
            "uniprot_ac": "O89094",
            "uniprot_id": "CASPE_MOUSE",
            "refseq_ac": "NP_033939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-14",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "CASP-14",
                    "type": "synonym"
                },
                {
                    "name": "MICE",
                    "type": "synonym"
                },
                {
                    "name": "Mini-ICE",
                    "type": "synonym"
                },
                {
                    "name": "caspase-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casp14",
                    "type": "recommended"
                },
                {
                    "name": "Casp14",
                    "type": "synonym"
                },
                {
                    "name": "MICE",
                    "type": "synonym"
                },
                {
                    "name": "mini-ICE",
                    "type": "synonym"
                }
            ],
            "record_id": "O89094-1",
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                {
                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08811-1",
            "uniprot_ac": "O08811",
            "uniprot_id": "ERCC2_MOUSE",
            "refseq_ac": "NP_031975",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase XPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPD subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ercc2",
                    "type": "recommended"
                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "Ercc-2",
                    "type": "synonym"
                },
                {
                    "name": "Ercc2",
                    "type": "synonym"
                },
                {
                    "name": "Mhdarco15",
                    "type": "synonym"
                },
                {
                    "name": "RCO015",
                    "type": "synonym"
                },
                {
                    "name": "XPD",
                    "type": "synonym"
                },
                {
                    "name": "Xpd",
                    "type": "synonym"
                }
            ],
            "record_id": "O08811-1",
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                {
                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22735-1",
            "uniprot_ac": "P22735",
            "uniprot_id": "TGM1_HUMAN",
            "refseq_ac": "NP_000350",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase K",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal TGase",
                    "type": "synonym"
                },
                {
                    "name": "K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TG(K)",
                    "type": "synonym"
                },
                {
                    "name": "TGK",
                    "type": "synonym"
                },
                {
                    "name": "TGase K",
                    "type": "synonym"
                },
                {
                    "name": "TGase-1",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase K",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-1",
                    "type": "synonym"
                },
                {
                    "name": "epidermal TGase",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase K",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase K",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase, keratinocyte",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGM1",
                    "type": "recommended"
                },
                {
                    "name": "ARCI1",
                    "type": "synonym"
                },
                {
                    "name": "ICR2",
                    "type": "synonym"
                },
                {
                    "name": "KTG",
                    "type": "synonym"
                },
                {
                    "name": "LI1",
                    "type": "synonym"
                },
                {
                    "name": "LI",
                    "type": "synonym"
                },
                {
                    "name": "TGASE",
                    "type": "synonym"
                },
                {
                    "name": "TGK",
                    "type": "synonym"
                },
                {
                    "name": "TGM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P22735-1",
            "evidence": [
                {
                    "id": "242300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/242300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06839-1",
            "uniprot_ac": "P06839",
            "uniprot_id": "RAD3_YEAST",
            "refseq_ac": "NP_011098",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD/RAD3",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase RAD3",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair helicase RAD3",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase II transcription factor B subunit RAD3",
                    "type": "synonym"
                },
                {
                    "name": "TFB subunit RAD3",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH/NER complex ATP-dependent 5'-3' DNA helicase subunit RAD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAD3",
                    "type": "recommended"
                },
                {
                    "name": "RAD3",
                    "type": "synonym"
                },
                {
                    "name": "REM1",
                    "type": "synonym"
                }
            ],
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                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZ65-1",
            "uniprot_ac": "D3ZZ65",
            "uniprot_id": "D3ZZ65_RAT",
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            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-14",
                    "type": "recommended"
                },
                {
                    "name": "caspase-14 isoform 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Casp14",
                    "type": "recommended"
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                    "name": "Casp14",
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                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
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        {
            "uniprot_canonical_ac": "A0A8I6AH26-1",
            "uniprot_ac": "A0A8I6AH26",
            "uniprot_id": "A0A8I6AH26_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase XPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
                },
                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                }
            ],
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                    "name": "Ercc2",
                    "type": "recommended"
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                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70597-1",
            "uniprot_ac": "P70597",
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            "refseq_ac": "NP_001265404",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostaglandin E2 receptor EP1 subtype",
                    "type": "recommended"
                },
                {
                    "name": "EP1 prostanoid receptor",
                    "type": "synonym"
                },
                {
                    "name": "PGE receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "PGE receptor, EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "PGE2 receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "Prostanoid EP1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E receptor 1 (subtype EP1)",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin E2 receptor EP1 subtype",
                    "type": "synonym"
                },
                {
                    "name": "prostanoid EP1 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptger1",
                    "type": "recommended"
                },
                {
                    "name": "EP1",
                    "type": "synonym"
                },
                {
                    "name": "Ptger1",
                    "type": "synonym"
                }
            ],
            "record_id": "P70597-1",
            "evidence": [
                {
                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VET9-1",
            "uniprot_ac": "Q9VET9",
            "uniprot_id": "Q9VET9_DROME",
            "refseq_ac": "NP_477462",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "3.4.22.-",
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                },
                {
                    "name": "CG14902-PA",
                    "type": "synonym"
                },
                {
                    "name": "Caspase-3",
                    "type": "synonym"
                },
                {
                    "name": "Caspase3",
                    "type": "synonym"
                },
                {
                    "name": "Death executioner caspase related to Apopain/Yama",
                    "type": "synonym"
                },
                {
                    "name": "Decay-PA",
                    "type": "synonym"
                },
                {
                    "name": "caspase 3",
                    "type": "synonym"
                },
                {
                    "name": "caspase-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "cleaved caspase 3",
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                },
                {
                    "name": "death executioner caspase related to Apopain/Yama",
                    "type": "synonym"
                },
                {
                    "name": "decay",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Decay",
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                },
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                    "name": "CAS3",
                    "type": "synonym"
                },
                {
                    "name": "CC-3",
                    "type": "synonym"
                },
                {
                    "name": "CC3",
                    "type": "synonym"
                },
                {
                    "name": "CG14902",
                    "type": "synonym"
                },
                {
                    "name": "Cas3",
                    "type": "synonym"
                },
                {
                    "name": "Casp-3",
                    "type": "synonym"
                },
                {
                    "name": "Casp3",
                    "type": "synonym"
                },
                {
                    "name": "Caspae-3",
                    "type": "synonym"
                },
                {
                    "name": "Caspase-3",
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                },
                {
                    "name": "DECAY",
                    "type": "synonym"
                },
                {
                    "name": "Decay",
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                },
                {
                    "name": "Dmel\\CG14902",
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                {
                    "name": "Dmel_CG14902",
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                },
                {
                    "name": "Drosophila executioner caspase related to Apopain/Yama",
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                },
                {
                    "name": "cas3",
                    "type": "synonym"
                },
                {
                    "name": "caspase 3",
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                },
                {
                    "name": "caspase-3",
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                },
                {
                    "name": "decay",
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                }
            ],
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                    "id": "0060655",
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            ]
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD",
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                },
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                    "name": "5.6.2.3",
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                    "name": "CG9433-PA",
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                    "name": "CXPD",
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                    "name": "DNA 5'-3' helicase XPD",
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                {
                    "name": "DNA excision repair protein ERCC-2",
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                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
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                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
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                },
                {
                    "name": "Xpd-PA",
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                },
                {
                    "name": "lethal (2) SH2137",
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                },
                {
                    "name": "xeroderma pigmentosum D ortholog",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xpd",
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                },
                {
                    "name": "CG9433",
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                },
                {
                    "name": "DhR3",
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                },
                {
                    "name": "DhXPD",
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                },
                {
                    "name": "DmXPD",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9433",
                    "type": "synonym"
                },
                {
                    "name": "ERCC2",
                    "type": "synonym"
                },
                {
                    "name": "XPD/ERCC2",
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                {
                    "name": "XPD",
                    "type": "synonym"
                },
                {
                    "name": "Xpd",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 2137",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2137",
                    "type": "synonym"
                },
                {
                    "name": "xpd",
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                }
            ],
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                    "id": "0060655",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18074-1",
            "uniprot_ac": "P18074",
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            "refseq_ac": "NP_000391",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "General transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.3",
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                },
                {
                    "name": "BTF2 p80",
                    "type": "synonym"
                },
                {
                    "name": "Basic transcription factor 2 80 kDa subunit",
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                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA 5'-3' helicase XPD",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-2",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair protein complementing XP-D cells",
                    "type": "synonym"
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                {
                    "name": "TFIIH 80 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex 80 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "TFIIH basal transcription factor complex helicase XPD subunit",
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                },
                {
                    "name": "TFIIH p80",
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                },
                {
                    "name": "TFIIH subunit XPD",
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                },
                {
                    "name": "Xeroderma pigmentosum group D-complementing protein",
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                },
                {
                    "name": "basic transcription factor 2 80 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 2",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 2",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "general transcription and DNA repair factor IIH helicase subunit XPD",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum complementary group D",
                    "type": "synonym"
                },
                {
                    "name": "xeroderma pigmentosum group D-complementing protein",
                    "type": "synonym"
                }
            ],
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                    "name": "ERCC2",
                    "type": "recommended"
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                {
                    "name": "COFS2",
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                },
                {
                    "name": "CXPD",
                    "type": "synonym"
                },
                {
                    "name": "EM9",
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                {
                    "name": "ERCC2",
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                },
                {
                    "name": "TFIIH",
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                },
                {
                    "name": "TTD1",
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                },
                {
                    "name": "TTD",
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                },
                {
                    "name": "XPDC",
                    "type": "synonym"
                },
                {
                    "name": "XPD",
                    "type": "synonym"
                }
            ],
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                    "id": "0060655",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P31944-1",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase-14",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.-",
                    "type": "synonym"
                },
                {
                    "name": "CASP-14",
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                {
                    "name": "caspase 14, apoptosis-related cysteine peptidase",
                    "type": "synonym"
                },
                {
                    "name": "caspase 14, apoptosis-related cysteine protease",
                    "type": "synonym"
                },
                {
                    "name": "caspase-14 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mini-ICE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASP14",
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                },
                {
                    "name": "ARCI12",
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                },
                {
                    "name": "CASP14",
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                },
                {
                    "name": "caspase-14",
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                }
            ],
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                    "id": "0060655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060655"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060655"
}