{
    "disease_id": "DOID:0080573",
    "recommended_name": {
        "id": "DOID:0080573",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080573",
        "name": "congenital disorder of glycosylation Ix",
        "description": "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23."
    },
    "synonyms": [
        {
            "id": "DOID:0080573",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080573",
            "name": "congenital disorder of glycosylation 1x",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "STT3B-congenital disorder of glycosylation",
            "description": "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)."
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "CDG syndrome type IX",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "CDG-Ix",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "CDG1X",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "STT3B-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "STT3B-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "carbohydrate deficient glycoprotein syndrome type IX",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "congenital disorder of glycosylation type 1x",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "congenital disorder of glycosylation type IX",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "congenital disorder of glycosylation, type IX",
            "description": ""
        },
        {
            "id": "MIM:615597",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615597",
            "name": "Congenital disorder of glycosylation 1X",
            "description": "Congenital disorder of glycosylation 1X"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080573"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080573",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080573",
            "categories": []
        },
        {
            "id": "MONDO:0014271",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "categories": []
        },
        {
            "id": "MIM:615597",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615597",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EZE2-1",
            "uniprot_ac": "E7EZE2",
            "uniprot_id": "E7EZE2_DANRE",
            "refseq_ac": "NP_001315090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B",
                    "type": "recommended"
                },
                {
                    "name": "2.4.99.18",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 3",
                    "type": "synonym"
                },
                {
                    "name": "STT3, subunit of the oligosaccharyltransferase complex, homolog B",
                    "type": "synonym"
                },
                {
                    "name": "STT3B, subunit of the oligosaccharyltransferase complex (catalytic)",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stt3b",
                    "type": "recommended"
                },
                {
                    "name": "fc14a12",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-239i15.3",
                    "type": "synonym"
                },
                {
                    "name": "stt3b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc14a12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56494",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZE2-1",
            "evidence": [
                {
                    "id": "0080573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080573"
                }
            ]
        },
        {
            "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": "0080573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080573"
                }
            ]
        },
        {
            "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": "0014271",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014271"
                },
                {
                    "id": "615597",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615597"
                },
                {
                    "id": "0080573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080573"
                }
            ]
        },
        {
            "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": "0080573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080573"
                }
            ]
        },
        {
            "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": "0080573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080573"
                }
            ]
        },
        {
            "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": "0080573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080573"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080573"
}