{
    "disease_id": "DOID:0080227",
    "recommended_name": {
        "id": "DOID:0080227",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080227",
        "name": "autosomal dominant intellectual developmental disorder 55",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080227",
            "name": "autosomal dominant mental retardation 55",
            "description": ""
        },
        {
            "id": "DOID:0080227",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080227",
            "name": "autosomal dominant intellectual developmental disorder-55 with seizures",
            "description": ""
        },
        {
            "id": "MONDO:0030921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030921",
            "name": "intellectual disability, autosomal dominant 55, with seizures",
            "description": ""
        },
        {
            "id": "MONDO:0030921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030921",
            "name": "intellectual disability, autosomal dominant 55, with seizures",
            "description": ""
        },
        {
            "id": "MONDO:0030921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030921",
            "name": "MRD55",
            "description": ""
        },
        {
            "id": "MONDO:0030921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030921",
            "name": "autosomal dominant mental retardation 55",
            "description": ""
        },
        {
            "id": "MONDO:0030921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030921",
            "name": "mental retardation, autosomal dominant 55, with seizures",
            "description": ""
        },
        {
            "id": "MIM:617831",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617831",
            "name": "Intellectual developmental disorder, autosomal dominant 55, with seizures",
            "description": "Intellectual developmental disorder, autosomal dominant 55, with seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080227"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080227",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080227",
            "categories": []
        },
        {
            "id": "MONDO:0030921",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030921",
            "categories": []
        },
        {
            "id": "MIM:617831",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617831",
            "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": "0080227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080227"
                }
            ]
        },
        {
            "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": "0080227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080227"
                }
            ]
        },
        {
            "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": "617831",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617831"
                },
                {
                    "id": "0080227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080227"
                }
            ]
        },
        {
            "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": "0080227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080227"
                }
            ]
        },
        {
            "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": "0080227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080227"
                }
            ]
        },
        {
            "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": "0080227",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080227"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080227"
}