{
    "disease_id": "DOID:0080569",
    "recommended_name": {
        "id": "DOID:0080569",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080569",
        "name": "congenital disorder of glycosylation Ir",
        "description": "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0080569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080569",
            "name": "congenital disorder of glycosylation 1r",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-congenital disorder of glycosylation",
            "description": "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)."
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "CDG syndrome type Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "CDG-Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "CDG1R",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "carbohydrate deficient glycoprotein syndrome type Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "congenital disorder of glycosylation type 1r",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "congenital disorder of glycosylation type Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-CDG (CDG-Ir)",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "carbohydrate deficient glycoprotein syndrome type",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "congenital disorder of glycosylation, type Ir",
            "description": ""
        },
        {
            "id": "MIM:614507",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614507",
            "name": "Congenital disorder of glycosylation 1R",
            "description": "Congenital disorder of glycosylation 1R"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080569"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080569",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080569",
            "categories": []
        },
        {
            "id": "MONDO:0013789",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "categories": []
        },
        {
            "id": "MIM:614507",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614507",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P39656-1",
            "uniprot_ac": "P39656",
            "uniprot_id": "OST48_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "DDOST 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDOST",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0115",
                    "type": "synonym"
                },
                {
                    "name": "OST48",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.45",
                    "type": "synonym"
                }
            ],
            "record_id": "P39656-1",
            "evidence": [
                {
                    "id": "1650",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/1650#disease"
                },
                {
                    "id": "0013789",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013789"
                },
                {
                    "id": "614507",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614507"
                },
                {
                    "id": "DDOST",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DDOST/#!details"
                },
                {
                    "id": "0080569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NYS8-1",
            "uniprot_ac": "Q6NYS8",
            "uniprot_id": "OST48_DANRE",
            "refseq_ac": "NP_998258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "DDOST 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide-protein glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ddost",
                    "type": "recommended"
                },
                {
                    "name": "ddost",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa11d01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66068",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77478",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NYS8-1",
            "evidence": [
                {
                    "id": "0080569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54734-1",
            "uniprot_ac": "O54734",
            "uniprot_id": "OST48_MOUSE",
            "refseq_ac": "NP_031864",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "DDOST 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddost",
                    "type": "recommended"
                },
                {
                    "name": "Ddost",
                    "type": "synonym"
                }
            ],
            "record_id": "O54734-1",
            "evidence": [
                {
                    "id": "0080569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33767-1",
            "uniprot_ac": "P33767",
            "uniprot_id": "OSTB_YEAST",
            "refseq_ac": "NP_010914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit WBP1",
                    "type": "recommended"
                },
                {
                    "name": "Oligosaccharyl transferase subunit WBP1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide-protein glycotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WBP1",
                    "type": "recommended"
                },
                {
                    "name": "WBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P33767-1",
            "evidence": [
                {
                    "id": "0080569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q641Y0-1",
            "uniprot_ac": "Q641Y0",
            "uniprot_id": "OST48_RAT",
            "refseq_ac": "NP_001012104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "DDOST 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-di-phosphooligosaccharide-protein glycotransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide-protein glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddost",
                    "type": "recommended"
                },
                {
                    "name": "Ddost",
                    "type": "synonym"
                }
            ],
            "record_id": "Q641Y0-1",
            "evidence": [
                {
                    "id": "0080569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46090-1",
            "uniprot_ac": "P46090",
            "uniprot_id": "CML2_RAT",
            "refseq_ac": "NP_037093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chemerin-like receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "Chemerin chemokine-like receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Chemokine-like receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "G-protein copled receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "chemerin-like receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "chemokine-like receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "probable G-protein coupled receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cmklr2",
                    "type": "recommended"
                },
                {
                    "name": "Cmklr2",
                    "type": "synonym"
                },
                {
                    "name": "Gpr1",
                    "type": "synonym"
                }
            ],
            "record_id": "P46090-1",
            "evidence": [
                {
                    "id": "0080569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24319-1",
            "uniprot_ac": "Q24319",
            "uniprot_id": "OST48_DROME",
            "refseq_ac": "NP_511096",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG9022-PA",
                    "type": "synonym"
                },
                {
                    "name": "DDOST 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "DmOST50",
                    "type": "synonym"
                },
                {
                    "name": "DrOST",
                    "type": "synonym"
                },
                {
                    "name": "OST5OP",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Ost48-PA",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccaryltransferase 48kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyltransferase 48kD subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ost48",
                    "type": "recommended"
                },
                {
                    "name": "CG9022",
                    "type": "synonym"
                },
                {
                    "name": "DmOST50",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9022",
                    "type": "synonym"
                },
                {
                    "name": "DrOST",
                    "type": "synonym"
                },
                {
                    "name": "OST48/WBP1",
                    "type": "synonym"
                },
                {
                    "name": "OST48",
                    "type": "synonym"
                },
                {
                    "name": "OST50",
                    "type": "synonym"
                },
                {
                    "name": "OST",
                    "type": "synonym"
                },
                {
                    "name": "Ost48",
                    "type": "synonym"
                },
                {
                    "name": "Ots48",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.11",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.11",
                    "type": "synonym"
                },
                {
                    "name": "ost48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24319-1",
            "evidence": [
                {
                    "id": "0080569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080569"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080569"
}