{
    "disease_id": "DOID:0080572",
    "recommended_name": {
        "id": "DOID:0080572",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080572",
        "name": "congenital disorder of glycosylation Iw",
        "description": "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080572",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080572",
            "name": "congenital disorder of glycosylation 1w",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "STT3A-congenital disorder of glycosylation",
            "description": "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)."
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "CDG syndrome type Iw",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "CDG-Iw",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "CDG1W",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "STT3A-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "STT3A-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "congenital disorder of glycosylation type 1w",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "congenital disorder of glycosylation type Iw",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "congenital disorder of glycosylation, type Iw, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "name": "congenital disorder of glycosylation, type Iw",
            "description": ""
        },
        {
            "id": "MIM:615596",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615596",
            "name": "Congenital disorder of glycosylation 1W, autosomal recessive",
            "description": "Congenital disorder of glycosylation 1W, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080572"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080572",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080572",
            "categories": []
        },
        {
            "id": "MONDO:0014270",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014270",
            "categories": []
        },
        {
            "id": "MIM:615596",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615596",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P46978-1",
            "uniprot_ac": "P46978",
            "uniprot_id": "STT3A_MOUSE",
            "refseq_ac": "NP_032434",
            "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 subunit STT3A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "B5",
                    "type": "synonym"
                },
                {
                    "name": "Integral membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit STT3A",
                    "type": "synonym"
                },
                {
                    "name": "STT3-A",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit STT3A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stt3a",
                    "type": "recommended"
                },
                {
                    "name": "B5",
                    "type": "synonym"
                },
                {
                    "name": "Itm1",
                    "type": "synonym"
                },
                {
                    "name": "Stt3a",
                    "type": "synonym"
                }
            ],
            "record_id": "P46978-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TDQ1-1",
            "uniprot_ac": "Q3TDQ1",
            "uniprot_id": "STT3B_MOUSE",
            "refseq_ac": "NP_077184",
            "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 subunit STT3B",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "B6dom1 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit STT3B",
                    "type": "synonym"
                },
                {
                    "name": "STT3-B",
                    "type": "synonym"
                },
                {
                    "name": "Source of immunodominant MHC-associated peptides",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit STT3B",
                    "type": "synonym"
                },
                {
                    "name": "source of immunodominant MHC-associated peptides",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stt3b",
                    "type": "recommended"
                },
                {
                    "name": "1300006C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Simp",
                    "type": "synonym"
                },
                {
                    "name": "Stt3b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TDQ1-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46977-1",
            "uniprot_ac": "P46977",
            "uniprot_id": "STT3A_HUMAN",
            "refseq_ac": "NP_001265432",
            "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 subunit STT3A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "B5",
                    "type": "synonym"
                },
                {
                    "name": "Integral membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit STT3A",
                    "type": "synonym"
                },
                {
                    "name": "STT3, subunit of the oligosaccharyltransferase complex, homolog A",
                    "type": "synonym"
                },
                {
                    "name": "STT3-A",
                    "type": "synonym"
                },
                {
                    "name": "STT3A, catalytic subunit of the oligosaccharyltransferase complex",
                    "type": "synonym"
                },
                {
                    "name": "STT3A, subunit of the oligosaccharyltransferase complex (catalytic)",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein TMC",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide protein glycotransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A",
                    "type": "synonym"
                },
                {
                    "name": "integral membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "integral transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit STT3A",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane conserved",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein TMC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STT3A",
                    "type": "recommended"
                },
                {
                    "name": "CDG1WAD",
                    "type": "synonym"
                },
                {
                    "name": "CDG1WAR",
                    "type": "synonym"
                },
                {
                    "name": "ITM1",
                    "type": "synonym"
                },
                {
                    "name": "STT3-A",
                    "type": "synonym"
                },
                {
                    "name": "STT3A",
                    "type": "synonym"
                },
                {
                    "name": "TMC",
                    "type": "synonym"
                }
            ],
            "record_id": "P46977-1",
            "evidence": [
                {
                    "id": "0014270",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014270"
                },
                {
                    "id": "615596",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615596"
                },
                {
                    "id": "STT3A",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/STT3A/#!details"
                },
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39007-1",
            "uniprot_ac": "P39007",
            "uniprot_id": "STT3_YEAST",
            "refseq_ac": "NP_011493",
            "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 STT3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit STT3",
                    "type": "synonym"
                },
                {
                    "name": "Staurosporine and temperature sensitivity protein 3",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STT3",
                    "type": "recommended"
                },
                {
                    "name": "STT3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39007-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZN7-1",
            "uniprot_ac": "Q91ZN7",
            "uniprot_id": "CHK1_RAT",
            "refseq_ac": "NP_536325",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Chk1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CHK1 checkpoint homolog",
                    "type": "synonym"
                },
                {
                    "name": "Checkpoint kinase-1",
                    "type": "synonym"
                },
                {
                    "name": "checkpoint kinase 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Chk1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chek1",
                    "type": "recommended"
                },
                {
                    "name": "Stt3a",
                    "type": "recommended"
                },
                {
                    "name": "Chek1",
                    "type": "synonym"
                },
                {
                    "name": "Chk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZN7-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYD7-1",
            "uniprot_ac": "B2RYD7",
            "uniprot_id": "B2RYD7_RAT",
            "refseq_ac": "NP_001164010",
            "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 subunit STT3B",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "STT3B, catalytic subunit of the oligosaccharyltransferase complex",
                    "type": "synonym"
                },
                {
                    "name": "STT3B, subunit of the oligosaccharyltransferase complex (catalytic)",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B",
                    "type": "synonym"
                },
                {
                    "name": "source of immunodominant MHC-associated peptides",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stt3b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311563",
                    "type": "synonym"
                },
                {
                    "name": "Stt3b",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYD7-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRE0-1",
            "uniprot_ac": "Q9VRE0",
            "uniprot_id": "Q9VRE0_DROME",
            "refseq_ac": "NP_001259751",
            "glycoprotein": "yes",
            "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 subunit STT3A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "CG1518-PC",
                    "type": "synonym"
                },
                {
                    "name": "Stt3A-PC",
                    "type": "synonym"
                },
                {
                    "name": "catalytic subunit 3A of the oligosaccharyltransferase complex, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stt3A",
                    "type": "recommended"
                },
                {
                    "name": "CG1518",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1518",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1518",
                    "type": "synonym"
                },
                {
                    "name": "STT",
                    "type": "synonym"
                },
                {
                    "name": "Stt3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRE0-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZ53-1",
            "uniprot_ac": "Q9XZ53",
            "uniprot_id": "Q9XZ53_DROME",
            "refseq_ac": "NP_524494",
            "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 glycotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "CG7748-PA",
                    "type": "synonym"
                },
                {
                    "name": "Stt3B-PA",
                    "type": "synonym"
                },
                {
                    "name": "catalytic subunit 3B of the oligosaccharyltransferase complex",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stt3B",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA.GM01838",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM01838",
                    "type": "synonym"
                },
                {
                    "name": "CG7748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7748",
                    "type": "synonym"
                },
                {
                    "name": "OstStt3",
                    "type": "synonym"
                },
                {
                    "name": "STT",
                    "type": "synonym"
                },
                {
                    "name": "Stt3B",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03054008.7",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j2D9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZ53-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TCJ2-1",
            "uniprot_ac": "Q8TCJ2",
            "uniprot_id": "STT3B_HUMAN",
            "refseq_ac": "NP_849193",
            "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 subunit STT3B",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit STT3B",
                    "type": "synonym"
                },
                {
                    "name": "STT3, subunit of the oligosaccharyltransferase complex, homolog B",
                    "type": "synonym"
                },
                {
                    "name": "STT3-B",
                    "type": "synonym"
                },
                {
                    "name": "STT3B, catalytic subunit of the oligosaccharyltransferase complex",
                    "type": "synonym"
                },
                {
                    "name": "STT3B, subunit of the oligosaccharyltransferase complex (catalytic)",
                    "type": "synonym"
                },
                {
                    "name": "Source of immunodominant MHC-associated peptides homolog",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide protein glycotransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast STT3",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit STT3B",
                    "type": "synonym"
                },
                {
                    "name": "source of immunodominant MHC-associated peptides homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STT3B",
                    "type": "recommended"
                },
                {
                    "name": "CDG1X",
                    "type": "synonym"
                },
                {
                    "name": "SIMP",
                    "type": "synonym"
                },
                {
                    "name": "STT3-B",
                    "type": "synonym"
                },
                {
                    "name": "STT3B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TCJ2-1",
            "evidence": [
                {
                    "id": "0080572",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080572"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080572"
}