{
    "disease_id": "DOID:0070015",
    "recommended_name": {
        "id": "DOID:0070015",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070015",
        "name": "autosomal recessive dyskeratosis congenita 1",
        "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0070015",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070015",
            "name": "DKCB1",
            "description": ""
        },
        {
            "id": "MONDO:0009136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "name": "dyskeratosis congenita, autosomal recessive 1",
            "description": "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14."
        },
        {
            "id": "MONDO:0009136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "name": "DKCB1",
            "description": ""
        },
        {
            "id": "MONDO:0009136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "name": "dyskeratosis congenita, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "name": "dyskeratosis congenita, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "name": "DKCB",
            "description": ""
        },
        {
            "id": "MONDO:0009136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "name": "autosomal recessive dyskeratosis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0009136",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "name": "dyskeratosis congenita autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:224230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224230",
            "name": "Dyskeratosis congenita, autosomal recessive, 1",
            "description": "Dyskeratosis congenita, autosomal recessive, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070015"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070015",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070015",
            "categories": []
        },
        {
            "id": "MONDO:0009136",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009136",
            "categories": []
        },
        {
            "id": "MIM:224230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224230",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q6DRH5",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "H/ACA ribonucleoprotein complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit 3",
                    "type": "synonym"
                },
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                },
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                    "name": "nucleolar protein family A member 3",
                    "type": "synonym"
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                {
                    "name": "snoRNP protein NOP10",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nop10",
                    "type": "recommended"
                },
                {
                    "name": "nola3",
                    "type": "synonym"
                },
                {
                    "name": "nop10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109956",
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                }
            ],
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                }
            ]
        },
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            "uniprot_ac": "Q9CQS2",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "H/ACA ribonucleoprotein complex subunit 3",
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                },
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                    "name": "Nucleolar protein 10",
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                },
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                    "name": "Nucleolar protein family A member 3",
                    "type": "synonym"
                },
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                    "name": "nucleolar protein 10",
                    "type": "synonym"
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                    "name": "nucleolar protein family A, member 3",
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            ],
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                    "name": "Nop10",
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                    "name": "1110036B12Rik",
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                    "type": "synonym"
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            ],
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "H/ACA ribonucleoprotein complex subunit 3",
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                },
                {
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                    "type": "synonym"
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                    "name": "Nucleolar protein 10",
                    "type": "synonym"
                },
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                    "name": "Nucleolar protein family A member 3",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast Nop10p",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein 10",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A member 3",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)",
                    "type": "synonym"
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                {
                    "name": "snoRNP protein NOP10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOP10",
                    "type": "recommended"
                },
                {
                    "name": "CHINE2",
                    "type": "synonym"
                },
                {
                    "name": "DKCB1",
                    "type": "synonym"
                },
                {
                    "name": "NOLA3",
                    "type": "synonym"
                },
                {
                    "name": "NOP10P",
                    "type": "synonym"
                },
                {
                    "name": "NOP10",
                    "type": "synonym"
                },
                {
                    "name": "PFBMFT9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPE3-1",
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                {
                    "id": "224230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224230"
                },
                {
                    "id": "0070015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6Q547-1",
            "uniprot_ac": "Q6Q547",
            "uniprot_id": "NOP10_YEAST",
            "refseq_ac": "NP_058135",
            "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 NOP10",
                    "type": "recommended"
                },
                {
                    "name": "Nucleolar protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 3",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP complex protein NOP10",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP protein NOP10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOP10",
                    "type": "recommended"
                },
                {
                    "name": "NOP10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6Q547-1",
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                {
                    "id": "0070015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZMP6-1",
            "uniprot_ac": "D3ZMP6",
            "uniprot_id": "D3ZMP6_RAT",
            "refseq_ac": "NP_001119572",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "H/ACA ribonucleoprotein complex subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit 3",
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                {
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                },
                {
                    "name": "Nucleolar protein 10",
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                    "name": "Nucleolar protein family A member 3",
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                    "name": "nucleolar protein family A, member 3",
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                    "name": "Nop10",
                    "type": "recommended"
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                {
                    "name": "LOC100360065",
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                    "name": "Nola3",
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                },
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                    "id": "0070015",
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            "uniprot_canonical_ac": "A0A8I5ZWP8-1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Nucleolar protein 10",
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                    "name": "Nop10l1",
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                    "name": "Nop10l1",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "H/ACA ribonucleoprotein complex subunit 3",
                    "type": "recommended"
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                    "name": "CG7637-PA",
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                {
                    "name": "Nop10 ribonucleoprotein",
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                {
                    "name": "Nop10-PA",
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                    "name": "Nucleolar protein 10",
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                {
                    "name": "Nucleolar protein family A member 3",
                    "type": "synonym"
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                {
                    "name": "Ribonucleoprotein Nop10",
                    "type": "synonym"
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                {
                    "name": "snoRNP protein dNop10",
                    "type": "synonym"
                }
            ],
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                    "name": "Nop10",
                    "type": "recommended"
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                    "name": "CG7637",
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                },
                {
                    "name": "Dmel\\CG7637",
                    "type": "synonym"
                },
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                    "name": "NOP10",
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                    "name": "Nop10",
                    "type": "synonym"
                }
            ],
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                    "id": "0070015",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070015"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070015"
}