{
    "disease_id": "DOID:0080553",
    "recommended_name": {
        "id": "DOID:0080553",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080553",
        "name": "congenital disorder of glycosylation Iaa",
        "description": "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080553",
            "name": "congenital disorder of glycosylation 1aa",
            "description": ""
        },
        {
            "id": "MONDO:0014904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014904",
            "name": "congenital disorder of glycosylation, type IAA",
            "description": ""
        },
        {
            "id": "MONDO:0014904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014904",
            "name": "CDG1AA",
            "description": ""
        },
        {
            "id": "MONDO:0014904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014904",
            "name": "congenital disorder of glycosylation, type 1aa",
            "description": ""
        },
        {
            "id": "MONDO:0014904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014904",
            "name": "congenital disorder of glycosylation, type IAA",
            "description": ""
        },
        {
            "id": "MONDO:0014904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014904",
            "name": "congenital disorder of glycosylation, type IAA; CDG1AA",
            "description": ""
        },
        {
            "id": "MIM:617082",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617082",
            "name": "Congenital disorder of glycosylation 1AA",
            "description": "Congenital disorder of glycosylation 1AA"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080553"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080553",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080553",
            "categories": []
        },
        {
            "id": "MONDO:0014904",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014904",
            "categories": []
        },
        {
            "id": "MIM:617082",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617082",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DHR8-1",
            "uniprot_ac": "Q6DHR8",
            "uniprot_id": "NGBR_DANRE",
            "refseq_ac": "NP_001002356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit nus1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "Di-trans,poly-cis-decaprenylcistransferase",
                    "type": "synonym"
                },
                {
                    "name": "NgBR",
                    "type": "synonym"
                },
                {
                    "name": "Nogo-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear undecaprenyl pyrophosphate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate syntase complex subunit nus1",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit nus1",
                    "type": "synonym"
                },
                {
                    "name": "di-trans,poly-cis-decaprenylcistransferase",
                    "type": "synonym"
                },
                {
                    "name": "ngBR",
                    "type": "synonym"
                },
                {
                    "name": "nogo-B receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nus1",
                    "type": "recommended"
                },
                {
                    "name": "fc21g03",
                    "type": "synonym"
                },
                {
                    "name": "ngbr",
                    "type": "synonym"
                },
                {
                    "name": "nus1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-102b16.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc21g03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92136",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DHR8-1",
            "evidence": [
                {
                    "id": "0080553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LJ8-1",
            "uniprot_ac": "Q99LJ8",
            "uniprot_id": "NGBR_MOUSE",
            "refseq_ac": "NP_084526",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit Nus1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "NgBR",
                    "type": "synonym"
                },
                {
                    "name": "Nogo-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear undecaprenyl pyrophosphate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate syntase complex subunit Nus1",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit Nus1",
                    "type": "synonym"
                },
                {
                    "name": "di-trans,poly-cis-decaprenylcistransferase",
                    "type": "synonym"
                },
                {
                    "name": "ngBR",
                    "type": "synonym"
                },
                {
                    "name": "nuclear undecaprenyl pyrophosphate synthase 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nus1",
                    "type": "recommended"
                },
                {
                    "name": "1600027K07Rik",
                    "type": "synonym"
                },
                {
                    "name": "D10Ertd438e",
                    "type": "synonym"
                },
                {
                    "name": "Ngbr",
                    "type": "synonym"
                },
                {
                    "name": "Nus1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LJ8-1",
            "evidence": [
                {
                    "id": "0080553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96E22-1",
            "uniprot_ac": "Q96E22",
            "uniprot_id": "NGBR_HUMAN",
            "refseq_ac": "NP_612468",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit NUS1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "Cis-prenyltransferase subunit NgBR",
                    "type": "synonym"
                },
                {
                    "name": "NgBR",
                    "type": "synonym"
                },
                {
                    "name": "Nogo-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear undecaprenyl pyrophosphate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cis-prenyltransferase subunit NgBR",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate syntase complex subunit NUS1",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit NUS1",
                    "type": "synonym"
                },
                {
                    "name": "di-trans,poly-cis-decaprenylcistransferase",
                    "type": "synonym"
                },
                {
                    "name": "nuclear undecaprenyl pyrophosphate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "transport and golgi organization 14 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUS1",
                    "type": "recommended"
                },
                {
                    "name": "C6orf68",
                    "type": "synonym"
                },
                {
                    "name": "CDG1AA",
                    "type": "synonym"
                },
                {
                    "name": "MGC:7199",
                    "type": "synonym"
                },
                {
                    "name": "MRD55",
                    "type": "synonym"
                },
                {
                    "name": "NGBR",
                    "type": "synonym"
                },
                {
                    "name": "NUS1",
                    "type": "synonym"
                },
                {
                    "name": "NgBR",
                    "type": "synonym"
                },
                {
                    "name": "TANGO14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96E22-1",
            "evidence": [
                {
                    "id": "0014904",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014904"
                },
                {
                    "id": "617082",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617082"
                },
                {
                    "id": "0080553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12063-1",
            "uniprot_ac": "Q12063",
            "uniprot_id": "UPPS_YEAST",
            "refseq_ac": "NP_010088",
            "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": "Dehydrodolichyl diphosphate synthase complex subunit NUS1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear undecaprenyl pyrophosphate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "ditrans,polycis-polyprenyl diphosphate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUS1",
                    "type": "recommended"
                },
                {
                    "name": "D1239",
                    "type": "synonym"
                },
                {
                    "name": "NUS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12063-1",
            "evidence": [
                {
                    "id": "0080553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZFM4-1",
            "uniprot_ac": "D3ZFM4",
            "uniprot_id": "D3ZFM4_RAT",
            "refseq_ac": "NP_001157629",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit NUS1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "Dehydrodolichyl diphosphate synthase complex subunit nus1",
                    "type": "synonym"
                },
                {
                    "name": "Nogo-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear undecaprenyl pyrophosphate synthase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dehydrodolichyl diphosphate synthase complex subunit NUS1",
                    "type": "synonym"
                },
                {
                    "name": "nogo-B receptor",
                    "type": "synonym"
                },
                {
                    "name": "nuclear undecaprenyl pyrophosphate synthase 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nus1",
                    "type": "recommended"
                },
                {
                    "name": "Nus1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307879",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZFM4-1",
            "evidence": [
                {
                    "id": "0080553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPX8-1",
            "uniprot_ac": "Q9VPX8",
            "uniprot_id": "Q9VPX8_DROME",
            "refseq_ac": "NP_001259857",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyldiphosphate specific]",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.87",
                    "type": "synonym"
                },
                {
                    "name": "CG4775-PB",
                    "type": "synonym"
                },
                {
                    "name": "Tango14-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k00619",
                    "type": "synonym"
                },
                {
                    "name": "transport and golgi organization 14, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tango14",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD10843",
                    "type": "synonym"
                },
                {
                    "name": "CG4775",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4775",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4775",
                    "type": "synonym"
                },
                {
                    "name": "TANGO14",
                    "type": "synonym"
                },
                {
                    "name": "Tango 14",
                    "type": "synonym"
                },
                {
                    "name": "Tango14",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00619",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPX8-1",
            "evidence": [
                {
                    "id": "0080553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080553"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080553"
}