{
    "disease_id": "DOID:0070022",
    "recommended_name": {
        "id": "DOID:0070022",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070022",
        "name": "autosomal recessive dyskeratosis congenita 5",
        "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070022",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070022",
            "name": "DKCB5",
            "description": ""
        },
        {
            "id": "MONDO:0014076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014076",
            "name": "dyskeratosis congenita, autosomal recessive 5",
            "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33."
        },
        {
            "id": "MONDO:0014076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014076",
            "name": "DKCB5",
            "description": ""
        },
        {
            "id": "MONDO:0014076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014076",
            "name": "dyskeratosis congenita, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0014076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014076",
            "name": "dyskeratosis congenita, autosomal recessive type 5",
            "description": ""
        },
        {
            "id": "MIM:615190",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615190",
            "name": "Dyskeratosis congenita, autosomal recessive, 5",
            "description": "Dyskeratosis congenita, autosomal recessive, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070022"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070022",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070022",
            "categories": []
        },
        {
            "id": "MONDO:0014076",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014076",
            "categories": []
        },
        {
            "id": "MIM:615190",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615190",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0C928-1",
            "uniprot_ac": "P0C928",
            "uniprot_id": "RTEL1_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": "Regulator of telomere elongation helicase 1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rtel1",
                    "type": "recommended"
                },
                {
                    "name": "RTEL1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113114",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C928-1",
            "evidence": [
                {
                    "id": "0070022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0VGM9-1",
            "uniprot_ac": "Q0VGM9",
            "uniprot_id": "RTEL1_MOUSE",
            "refseq_ac": "NP_001001882",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Regulator of telomere elongation helicase 1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "DEAH helicase",
                    "type": "synonym"
                },
                {
                    "name": "regulator of telomere elongation helicase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "regulator of telomere length",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rtel1",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1088",
                    "type": "synonym"
                },
                {
                    "name": "Rtel1",
                    "type": "synonym"
                },
                {
                    "name": "Rtel",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VGM9-1",
            "evidence": [
                {
                    "id": "0070022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZ71-1",
            "uniprot_ac": "Q9NZ71",
            "uniprot_id": "RTEL1_HUMAN",
            "refseq_ac": "NP_001269938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Regulator of telomere elongation helicase 1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "Novel helicase-like",
                    "type": "synonym"
                },
                {
                    "name": "regulator of telomere elongation helicase 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "regulator of telomere length",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RTEL1",
                    "type": "recommended"
                },
                {
                    "name": "C20orf41",
                    "type": "synonym"
                },
                {
                    "name": "DKCA4",
                    "type": "synonym"
                },
                {
                    "name": "DKCB5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1088",
                    "type": "synonym"
                },
                {
                    "name": "NHL",
                    "type": "synonym"
                },
                {
                    "name": "PFBMFT3",
                    "type": "synonym"
                },
                {
                    "name": "RTEL1",
                    "type": "synonym"
                },
                {
                    "name": "RTEL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZ71-1",
            "evidence": [
                {
                    "id": "615190",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615190"
                },
                {
                    "id": "0070022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RJZ1-1",
            "uniprot_ac": "Q5RJZ1",
            "uniprot_id": "RTEL1_RAT",
            "refseq_ac": "NP_001178786",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Regulator of telomere elongation helicase 1",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "helicase-like protein NHL",
                    "type": "synonym"
                },
                {
                    "name": "regulator of telomere elongation helicase 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rtel1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306721",
                    "type": "synonym"
                },
                {
                    "name": "RTEL1",
                    "type": "synonym"
                },
                {
                    "name": "Rtel1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RJZ1-1",
            "evidence": [
                {
                    "id": "0070022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W484-1",
            "uniprot_ac": "Q9W484",
            "uniprot_id": "RTEL1_DROME",
            "refseq_ac": "NP_001259262",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Regulator of telomere elongation helicase 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "CG4078-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rtel1-PB",
                    "type": "synonym"
                },
                {
                    "name": "regulator of telomere elongation helicase 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "regulator of telomere elongation helicase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rtel1",
                    "type": "recommended"
                },
                {
                    "name": "CG4078",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4078",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4078",
                    "type": "synonym"
                },
                {
                    "name": "Rtel1",
                    "type": "synonym"
                },
                {
                    "name": "dRTEL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W484-1",
            "evidence": [
                {
                    "id": "0070022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070022"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070022"
}