{
    "disease_id": "DOID:0070254",
    "recommended_name": {
        "id": "DOID:0070254",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070254",
        "name": "congenital disorder of glycosylation type IIb",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "CDG IIb",
            "description": ""
        },
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "CDG2B",
            "description": ""
        },
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "CDGIIb",
            "description": ""
        },
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "glucosidase I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-congenital disorder of glycosylation",
            "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG syndrome type IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG-IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG2B",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "carbohydrate deficient glycoprotein syndrome type IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "congenital disorder of glycosylation type 2b",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "congenital disorder of glycosylation type IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "glucosidase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG 2B",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "GCS1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-CDG (CDG-IIb)",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "congenital disorder of glycosylation, type IIb",
            "description": ""
        },
        {
            "id": "MIM:606056",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606056",
            "name": "Type IIb congenital disorder of glycosylation",
            "description": "Type IIb congenital disorder of glycosylation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070254"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070254",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "categories": []
        },
        {
            "id": "MONDO:0011629",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "categories": []
        },
        {
            "id": "MIM:606056",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606056",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q13724-1",
            "uniprot_ac": "Q13724",
            "uniprot_id": "MOGS_HUMAN",
            "refseq_ac": "NP_001139630",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannosyl-oligosaccharide glucosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.106",
                    "type": "synonym"
                },
                {
                    "name": "Processing A-glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl-oligosaccharide glucosidase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "processing A-glucosidase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MOGS",
                    "type": "recommended"
                },
                {
                    "name": "CDG2B",
                    "type": "synonym"
                },
                {
                    "name": "CWH41",
                    "type": "synonym"
                },
                {
                    "name": "DER7",
                    "type": "synonym"
                },
                {
                    "name": "GCS1",
                    "type": "synonym"
                },
                {
                    "name": "MOGS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13724-1",
            "evidence": [
                {
                    "id": "7841",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/7841#disease"
                },
                {
                    "id": "0011629",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011629"
                },
                {
                    "id": "606056",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606056"
                },
                {
                    "id": "MOGS",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MOGS/#!details"
                },
                {
                    "id": "0070254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80UM7-1",
            "uniprot_ac": "Q80UM7",
            "uniprot_id": "MOGS_MOUSE",
            "refseq_ac": "NP_065644",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannosyl-oligosaccharide glucosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.106",
                    "type": "synonym"
                },
                {
                    "name": "ER glu I",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum alpha-glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein-processing glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum alpha-glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase 1",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-processing glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl-oligosaccharide glucosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mogs",
                    "type": "recommended"
                },
                {
                    "name": "1810017N02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gcs1",
                    "type": "synonym"
                },
                {
                    "name": "Mogs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80UM7-1",
            "evidence": [
                {
                    "id": "0070254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53008-1",
            "uniprot_ac": "P53008",
            "uniprot_id": "CWH41_YEAST",
            "refseq_ac": "NP_011488",
            "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": "Mannosyl-oligosaccharide glucosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.106",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "Processing A-glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl-oligosaccharide glucosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CWH41",
                    "type": "recommended"
                },
                {
                    "name": "CWH41",
                    "type": "synonym"
                },
                {
                    "name": "DER7",
                    "type": "synonym"
                },
                {
                    "name": "GLS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53008-1",
            "evidence": [
                {
                    "id": "0070254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88941-1",
            "uniprot_ac": "O88941",
            "uniprot_id": "MOGS_RAT",
            "refseq_ac": "NP_113937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannosyl-oligosaccharide glucosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.106",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein-processing glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase 1",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-processing glucosidase I",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl-oligosaccharide glucosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mogs",
                    "type": "recommended"
                },
                {
                    "name": "Gcs1",
                    "type": "synonym"
                },
                {
                    "name": "Mogs",
                    "type": "synonym"
                }
            ],
            "record_id": "O88941-1",
            "evidence": [
                {
                    "id": "0070254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZ04-1",
            "uniprot_ac": "Q9VZ04",
            "uniprot_id": "Q9VZ04_DROME",
            "refseq_ac": "NP_001245621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannosyl-oligosaccharide glucosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.106",
                    "type": "synonym"
                },
                {
                    "name": "CG1597-PC",
                    "type": "synonym"
                },
                {
                    "name": "GCS1-PC",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase 1, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCS1",
                    "type": "recommended"
                },
                {
                    "name": "CG1597",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1597",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1597",
                    "type": "synonym"
                },
                {
                    "name": "GCS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZ04-1",
            "evidence": [
                {
                    "id": "0070254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070254"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070254"
}