{
    "disease_id": "DOID:0070019",
    "recommended_name": {
        "id": "DOID:0070019",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070019",
        "name": "autosomal recessive dyskeratosis congenita 3",
        "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070019",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070019",
            "name": "DKCB3",
            "description": ""
        },
        {
            "id": "MONDO:0013520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013520",
            "name": "dyskeratosis congenita, autosomal recessive 3",
            "description": "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1."
        },
        {
            "id": "MONDO:0013520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013520",
            "name": "DKCB3",
            "description": ""
        },
        {
            "id": "MONDO:0013520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013520",
            "name": "dyskeratosis congenita, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0013520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013520",
            "name": "dyskeratosis congenita, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MIM:613988",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613988",
            "name": "Dyskeratosis congenita, autosomal recessive, 3",
            "description": "Dyskeratosis congenita, autosomal recessive, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070019"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070019",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070019",
            "categories": []
        },
        {
            "id": "MONDO:0013520",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013520",
            "categories": []
        },
        {
            "id": "MIM:613988",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613988",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P3C1-1",
            "uniprot_ac": "A0A8M1P3C1",
            "uniprot_id": "A0A8M1P3C1_DANRE",
            "refseq_ac": "NP_001242957",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase Cajal body protein 1",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 79",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 79",
                    "type": "synonym"
                },
                {
                    "name": "telomerase Cajal body protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wrap53",
                    "type": "recommended"
                },
                {
                    "name": "fb34f12",
                    "type": "synonym"
                },
                {
                    "name": "fi26g08",
                    "type": "synonym"
                },
                {
                    "name": "wrap53",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb34f12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi26g08",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P3C1-1",
            "evidence": [
                {
                    "id": "0070019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VC51-1",
            "uniprot_ac": "Q8VC51",
            "uniprot_id": "TCAB1_MOUSE",
            "refseq_ac": "NP_659073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase Cajal body protein 1",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat containing, antisense to TP53",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 79",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 79",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein WRAP53",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat-containing protein antisense to TP53 gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat-containing protein encoded by RNA antisense to p53",
                    "type": "synonym"
                },
                {
                    "name": "telomerase Cajal body protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wrap53",
                    "type": "recommended"
                },
                {
                    "name": "Tcab1",
                    "type": "synonym"
                },
                {
                    "name": "Wdr79",
                    "type": "synonym"
                },
                {
                    "name": "Wrap53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VC51-1",
            "evidence": [
                {
                    "id": "0070019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BUR4-1",
            "uniprot_ac": "Q9BUR4",
            "uniprot_id": "TCAB1_HUMAN",
            "refseq_ac": "NP_001137462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase Cajal body protein 1",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 79",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein WRAP53",
                    "type": "synonym"
                },
                {
                    "name": "WD40 protein Wrap53",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat-containing protein antisense to TP53 gene",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat-containing protein antisense to TP53",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat-containing protein encoding RNA antisense to p53",
                    "type": "synonym"
                },
                {
                    "name": "WRAP53beta",
                    "type": "synonym"
                },
                {
                    "name": "telomerase Cajal body protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WRAP53",
                    "type": "recommended"
                },
                {
                    "name": "DKCB3",
                    "type": "synonym"
                },
                {
                    "name": "TCAB1",
                    "type": "synonym"
                },
                {
                    "name": "WDR79",
                    "type": "synonym"
                },
                {
                    "name": "WRAP53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUR4-1",
            "evidence": [
                {
                    "id": "613988",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613988"
                },
                {
                    "id": "0070019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53873-1",
            "uniprot_ac": "P53873",
            "uniprot_id": "SWT21_YEAST",
            "refseq_ac": "NP_014212",
            "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": "Protein SWT21",
                    "type": "recommended"
                },
                {
                    "name": "Swt21p",
                    "type": "synonym"
                },
                {
                    "name": "Synthetic With TGS1 protein 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SWT21",
                    "type": "recommended"
                },
                {
                    "name": "N1615",
                    "type": "synonym"
                },
                {
                    "name": "SWT21",
                    "type": "synonym"
                }
            ],
            "record_id": "P53873-1",
            "evidence": [
                {
                    "id": "0070019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XII5-1",
            "uniprot_ac": "Q5XII5",
            "uniprot_id": "TCAB1_RAT",
            "refseq_ac": "NP_001007611",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase Cajal body protein 1",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 79",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 79",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein WRAP53",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat-containing protein antisense to TP53 gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD40 repeat-containing protein encoded by RNA antisense to p53",
                    "type": "synonym"
                },
                {
                    "name": "telomerase Cajal body protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wrap53",
                    "type": "recommended"
                },
                {
                    "name": "Tcab1",
                    "type": "synonym"
                },
                {
                    "name": "Wdr79",
                    "type": "synonym"
                },
                {
                    "name": "Wrap53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XII5-1",
            "evidence": [
                {
                    "id": "0070019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NL34-1",
            "uniprot_ac": "Q6NL34",
            "uniprot_id": "TCAB1_DROME",
            "refseq_ac": "NP_001285665",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase Cajal body protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG9226-PC",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 79 homolog",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 79, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 79",
                    "type": "synonym"
                },
                {
                    "name": "WDR79-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR79",
                    "type": "recommended"
                },
                {
                    "name": "CG9226",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9226",
                    "type": "synonym"
                },
                {
                    "name": "WDR79",
                    "type": "synonym"
                },
                {
                    "name": "dWDR79",
                    "type": "synonym"
                },
                {
                    "name": "p70",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NL34-1",
            "evidence": [
                {
                    "id": "0070019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070019"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070019"
}