{
    "disease_id": "DOID:0070016",
    "recommended_name": {
        "id": "DOID:0070016",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070016",
        "name": "autosomal dominant dyskeratosis congenita 2",
        "description": "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070016",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070016",
            "name": "DKCA2",
            "description": ""
        },
        {
            "id": "MONDO:0013521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013521",
            "name": "dyskeratosis congenita, autosomal dominant 2",
            "description": "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33."
        },
        {
            "id": "MONDO:0013521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013521",
            "name": "DKCA2",
            "description": ""
        },
        {
            "id": "MONDO:0013521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013521",
            "name": "dyskeratosis congenita, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0013521",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013521",
            "name": "dyskeratosis congenita, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MIM:613989",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613989",
            "name": "Dyskeratosis congenita, autosomal recessive, 4",
            "description": "Dyskeratosis congenita, autosomal recessive, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070016"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070016",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070016",
            "categories": []
        },
        {
            "id": "MONDO:0013521",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013521",
            "categories": []
        },
        {
            "id": "MIM:613989",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613989",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O70372-1",
            "uniprot_ac": "O70372",
            "uniprot_id": "TERT_MOUSE",
            "refseq_ac": "NP_033380",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase reverse transcriptase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.49",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "telomerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "telomerase reverse transcriptase beta",
                    "type": "synonym"
                },
                {
                    "name": "telomerase reverse transcriptase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tert",
                    "type": "recommended"
                },
                {
                    "name": "EST2",
                    "type": "synonym"
                },
                {
                    "name": "TCS1",
                    "type": "synonym"
                },
                {
                    "name": "TP2",
                    "type": "synonym"
                },
                {
                    "name": "TRT",
                    "type": "synonym"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "Tert",
                    "type": "synonym"
                }
            ],
            "record_id": "O70372-1",
            "evidence": [
                {
                    "id": "0070016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14746-1",
            "uniprot_ac": "O14746",
            "uniprot_id": "TERT_HUMAN",
            "refseq_ac": "NP_001180305",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase reverse transcriptase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.49",
                    "type": "synonym"
                },
                {
                    "name": "HEST2",
                    "type": "synonym"
                },
                {
                    "name": "TP2",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "telomerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "telomerase reverse transcriptase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "telomerase-associated protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TERT",
                    "type": "recommended"
                },
                {
                    "name": "CMM9",
                    "type": "synonym"
                },
                {
                    "name": "DKCA2",
                    "type": "synonym"
                },
                {
                    "name": "DKCB4",
                    "type": "synonym"
                },
                {
                    "name": "EST2",
                    "type": "synonym"
                },
                {
                    "name": "PFBMFT1",
                    "type": "synonym"
                },
                {
                    "name": "TCS1",
                    "type": "synonym"
                },
                {
                    "name": "TERT",
                    "type": "synonym"
                },
                {
                    "name": "TP2",
                    "type": "synonym"
                },
                {
                    "name": "TRT",
                    "type": "synonym"
                },
                {
                    "name": "hEST2",
                    "type": "synonym"
                },
                {
                    "name": "hTRT",
                    "type": "synonym"
                }
            ],
            "record_id": "O14746-1",
            "evidence": [
                {
                    "id": "613989",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613989"
                },
                {
                    "id": "0070016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06163-1",
            "uniprot_ac": "Q06163",
            "uniprot_id": "TERT_YEAST",
            "refseq_ac": "NP_013422",
            "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": "Telomerase reverse transcriptase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.49",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "telomerase reverse transcriptase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EST2",
                    "type": "recommended"
                },
                {
                    "name": "EST2",
                    "type": "synonym"
                },
                {
                    "name": "L8543.12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06163-1",
            "evidence": [
                {
                    "id": "0070016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q673L6-1",
            "uniprot_ac": "Q673L6",
            "uniprot_id": "TERT_RAT",
            "refseq_ac": "NP_445875",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telomerase reverse transcriptase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.49",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "telomerase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "telomerase reverse transcriptase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tert",
                    "type": "recommended"
                },
                {
                    "name": "Tert",
                    "type": "synonym"
                }
            ],
            "record_id": "Q673L6-1",
            "evidence": [
                {
                    "id": "0070016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070016"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070016"
}