{
    "disease_id": "DOID:0070017",
    "recommended_name": {
        "id": "DOID:0070017",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070017",
        "name": "autosomal recessive dyskeratosis congenita 2",
        "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070017",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070017",
            "name": "DKCB2",
            "description": ""
        },
        {
            "id": "MONDO:0013519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013519",
            "name": "dyskeratosis congenita, autosomal recessive 2",
            "description": "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3."
        },
        {
            "id": "MONDO:0013519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013519",
            "name": "DKCB2",
            "description": ""
        },
        {
            "id": "MONDO:0013519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013519",
            "name": "dyskeratosis congenita, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0013519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013519",
            "name": "dyskeratosis congenita, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MIM:613987",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613987",
            "name": "Dyskeratosis congenita, autosomal recessive, 2",
            "description": "Dyskeratosis congenita, autosomal recessive, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070017"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070017",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070017",
            "categories": []
        },
        {
            "id": "MONDO:0013519",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013519",
            "categories": []
        },
        {
            "id": "MIM:613987",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613987",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PBV6-1",
            "uniprot_ac": "Q6PBV6",
            "uniprot_id": "NHP2_DANRE",
            "refseq_ac": "NP_997762",
            "glycoprotein": "no",
            "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 2-like protein",
                    "type": "recommended"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A member 2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP protein NHP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nhp2",
                    "type": "recommended"
                },
                {
                    "name": "nhp2",
                    "type": "synonym"
                },
                {
                    "name": "nola2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36b10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd61a03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73227",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBV6-1",
            "evidence": [
                {
                    "id": "0070017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CRB2-1",
            "uniprot_ac": "Q9CRB2",
            "uniprot_id": "NHP2_MOUSE",
            "refseq_ac": "NP_080907",
            "glycoprotein": "no",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA small nucleolar RNPs",
                    "type": "synonym"
                },
                {
                    "name": "NHP2 ribonucleoprotein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 2",
                    "type": "synonym"
                },
                {
                    "name": "h/ACA ribonucleoprotein complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A, member 2",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP protein NHP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhp2",
                    "type": "recommended"
                },
                {
                    "name": "2410130M07Rik",
                    "type": "synonym"
                },
                {
                    "name": "D11Ertd175e",
                    "type": "synonym"
                },
                {
                    "name": "Nhp2",
                    "type": "synonym"
                },
                {
                    "name": "Nola2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CRB2-1",
            "evidence": [
                {
                    "id": "0070017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NX24-1",
            "uniprot_ac": "Q9NX24",
            "uniprot_id": "NHP2_HUMAN",
            "refseq_ac": "NP_001030005",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "H/ACA ribonucleoprotein complex subunit 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "NHP2 ribonucleoprotein homolog",
                    "type": "synonym"
                },
                {
                    "name": "NHP2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 2",
                    "type": "synonym"
                },
                {
                    "name": "h/ACA ribonucleoprotein complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)",
                    "type": "synonym"
                },
                {
                    "name": "snoRNP protein NHP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHP2",
                    "type": "recommended"
                },
                {
                    "name": "DKCB2",
                    "type": "synonym"
                },
                {
                    "name": "HSPC286",
                    "type": "synonym"
                },
                {
                    "name": "NHP2P",
                    "type": "synonym"
                },
                {
                    "name": "NHP2",
                    "type": "synonym"
                },
                {
                    "name": "NOLA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NX24-1",
            "evidence": [
                {
                    "id": "613987",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613987"
                },
                {
                    "id": "0070017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32495-1",
            "uniprot_ac": "P32495",
            "uniprot_id": "NHP2_YEAST",
            "refseq_ac": "NP_010073",
            "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 NHP2",
                    "type": "recommended"
                },
                {
                    "name": "H/ACA snoRNP protein NHP2",
                    "type": "synonym"
                },
                {
                    "name": "High mobility group-like nuclear protein 2",
                    "type": "synonym"
                },
                {
                    "name": "snoRNA-binding protein NHP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHP2",
                    "type": "recommended"
                },
                {
                    "name": "D1045",
                    "type": "synonym"
                },
                {
                    "name": "NHP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32495-1",
            "evidence": [
                {
                    "id": "0070017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3U2-1",
            "uniprot_ac": "Q9V3U2",
            "uniprot_id": "NHP2_DROME",
            "refseq_ac": "NP_001261849",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "CG5258-PB",
                    "type": "synonym"
                },
                {
                    "name": "H/ACA snoRNP protein NHP2",
                    "type": "synonym"
                },
                {
                    "name": "NHP2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "NHP2-PB",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein family A member 2-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHP2",
                    "type": "recommended"
                },
                {
                    "name": "CG5258",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5258",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5258",
                    "type": "synonym"
                },
                {
                    "name": "NHP2",
                    "type": "synonym"
                },
                {
                    "name": "nhp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3U2-1",
            "evidence": [
                {
                    "id": "0070017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070017"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070017"
}