{
    "disease_id": "DOID:0070025",
    "recommended_name": {
        "id": "DOID:0070025",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070025",
        "name": "X-linked dyskeratosis congenita",
        "description": "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0070025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070025",
            "name": "DKCX",
            "description": ""
        },
        {
            "id": "DOID:0070025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070025",
            "name": "Zinsser-Cole-Engman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "dyskeratosis congenita, X-linked",
            "description": "X-linked form of dyskeratosis congenita."
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "DKCX",
            "description": ""
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "Hoyeraal Hreidarsson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "X-linked dyskeratosis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "Zinsser-Cole-Engman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "dyskeratosis congenita, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "dyskeratosis congenita, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010584",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "name": "dyskeratosis congenita X-linked",
            "description": ""
        },
        {
            "id": "MIM:305000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/305000",
            "name": "Dyskeratosis congenita, X-linked",
            "description": "Dyskeratosis congenita, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070025"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070025",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070025",
            "categories": []
        },
        {
            "id": "MONDO:0010584",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010584",
            "categories": []
        },
        {
            "id": "MIM:305000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/305000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q749-1",
            "uniprot_ac": "F1Q749",
            "uniprot_id": "DKC1_DANRE",
            "refseq_ac": "NP_001028279",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Dyskerin",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1",
                    "type": "synonym"
                },
                {
                    "name": "dyskerin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dkc1",
                    "type": "recommended"
                },
                {
                    "name": "dkc1",
                    "type": "synonym"
                },
                {
                    "name": "fc87a02",
                    "type": "synonym"
                },
                {
                    "name": "fi24a05",
                    "type": "synonym"
                },
                {
                    "name": "fv62a07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa28f10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc87a02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi24a05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fv62a07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110395",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q749-1",
            "evidence": [
                {
                    "id": "0070025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESX5-1",
            "uniprot_ac": "Q9ESX5",
            "uniprot_id": "DKC1_MOUSE",
            "refseq_ac": "NP_001025478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Dyskerin",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1",
                    "type": "synonym"
                },
                {
                    "name": "Nopp140-associated protein of 57 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein NAP57",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "dyskeratosis congenita 1, dyskerin homolog",
                    "type": "synonym"
                },
                {
                    "name": "dyskerin",
                    "type": "synonym"
                },
                {
                    "name": "h/ACA ribonucleoprotein complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "nopp140-associated protein of 57 kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein NAP57",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP protein DKC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dkc1",
                    "type": "recommended"
                },
                {
                    "name": "Dkc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESX5-1",
            "evidence": [
                {
                    "id": "0070025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60832-1",
            "uniprot_ac": "O60832",
            "uniprot_id": "DKC1_HUMAN",
            "refseq_ac": "NP_001135935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "CBF5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dyskerin",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1",
                    "type": "synonym"
                },
                {
                    "name": "Nopp140-associated protein of 57 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein NAP57",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "dyskeratosis congenita 1, dyskerin",
                    "type": "synonym"
                },
                {
                    "name": "nopp140-associated protein of 57 kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein NAP57",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP protein DKC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DKC1",
                    "type": "recommended"
                },
                {
                    "name": "CBF5",
                    "type": "synonym"
                },
                {
                    "name": "CHINE1",
                    "type": "synonym"
                },
                {
                    "name": "DKC1",
                    "type": "synonym"
                },
                {
                    "name": "DKCX",
                    "type": "synonym"
                },
                {
                    "name": "DKC",
                    "type": "synonym"
                },
                {
                    "name": "NAP57",
                    "type": "synonym"
                },
                {
                    "name": "NOLA4",
                    "type": "synonym"
                },
                {
                    "name": "XAP101",
                    "type": "synonym"
                }
            ],
            "record_id": "O60832-1",
            "evidence": [
                {
                    "id": "305000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/305000"
                },
                {
                    "id": "0070025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33322-1",
            "uniprot_ac": "P33322",
            "uniprot_id": "CBF5_YEAST",
            "refseq_ac": "NP_013276",
            "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": "H/ACA ribonucleoprotein complex subunit CBF5",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Centromere-binding factor 5",
                    "type": "synonym"
                },
                {
                    "name": "Centromere/microtubule-binding protein CBF5",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA snoRNP protein CBF5",
                    "type": "synonym"
                },
                {
                    "name": "Small nucleolar RNP protein CBF5",
                    "type": "synonym"
                },
                {
                    "name": "p64'",
                    "type": "synonym"
                },
                {
                    "name": "pseudouridine synthase CBF5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CBF5",
                    "type": "recommended"
                },
                {
                    "name": "CBF5",
                    "type": "synonym"
                },
                {
                    "name": "L9470.11",
                    "type": "synonym"
                }
            ],
            "record_id": "P33322-1",
            "evidence": [
                {
                    "id": "0070025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LZH8-1",
            "uniprot_ac": "A0ABK0LZH8",
            "uniprot_id": "A0ABK0LZH8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H/ACA ribonucleoprotein complex subunit DKC1",
                    "type": "recommended"
                },
                {
                    "name": "Dyskerin",
                    "type": "synonym"
                },
                {
                    "name": "Nopp140-associated protein of 57 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein NAP57",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP protein DKC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dkc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LZH8-1",
            "evidence": [
                {
                    "id": "0070025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16598-1",
            "uniprot_ac": "P16598",
            "uniprot_id": "IL1A_RAT",
            "refseq_ac": "NP_058715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il1a",
                    "type": "recommended"
                },
                {
                    "name": "IL-1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-1F1",
                    "type": "synonym"
                },
                {
                    "name": "Il1a",
                    "type": "synonym"
                }
            ],
            "record_id": "P16598-1",
            "evidence": [
                {
                    "id": "0070025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O44081-1",
            "uniprot_ac": "O44081",
            "uniprot_id": "DKC1_DROME",
            "refseq_ac": "NP_001014547",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "H/ACA ribonucleoprotein complex subunit 4",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3333-PB",
                    "type": "synonym"
                },
                {
                    "name": "Nop60B-PB",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein at 60B",
                    "type": "synonym"
                },
                {
                    "name": "Protein minifly",
                    "type": "synonym"
                },
                {
                    "name": "Uhg6",
                    "type": "synonym"
                },
                {
                    "name": "dUhg-like 6",
                    "type": "synonym"
                },
                {
                    "name": "minifly",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein at 60B, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nop60B",
                    "type": "recommended"
                },
                {
                    "name": "CG3333",
                    "type": "synonym"
                },
                {
                    "name": "DKC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3333",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3333",
                    "type": "synonym"
                },
                {
                    "name": "NOP60B",
                    "type": "synonym"
                },
                {
                    "name": "Nop60B/mfl",
                    "type": "synonym"
                },
                {
                    "name": "Nop60B/mnf",
                    "type": "synonym"
                },
                {
                    "name": "Nop60B",
                    "type": "synonym"
                },
                {
                    "name": "Nop60b",
                    "type": "synonym"
                },
                {
                    "name": "Nop60",
                    "type": "synonym"
                },
                {
                    "name": "Uhg6",
                    "type": "synonym"
                },
                {
                    "name": "dUhg6",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05318",
                    "type": "synonym"
                },
                {
                    "name": "mfl",
                    "type": "synonym"
                },
                {
                    "name": "minifly",
                    "type": "synonym"
                },
                {
                    "name": "mnf",
                    "type": "synonym"
                },
                {
                    "name": "nop60B",
                    "type": "synonym"
                }
            ],
            "record_id": "O44081-1",
            "evidence": [
                {
                    "id": "0070025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070025"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070025"
}