{
    "disease_id": "DOID:0050571",
    "recommended_name": {
        "id": "DOID:0050571",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050571",
        "name": "congenital disorder of glycosylation type II",
        "description": "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain."
    },
    "synonyms": [
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "MGAT2-congenital disorder of glycosylation",
            "description": "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)."
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG syndrome type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG-IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG2A",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "MGAT2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "N-acetylglucosaminyltransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "carbohydrate deficient glycoprotein syndrome type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "congenital disorder of glycosylation type 2a",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "congenital disorder of glycosylation type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDGS2",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "MGAT2-CDG (CDG-IIa)",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "carbohydrate-deficient glycoprotein syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "congenital disorder of glycosylation, type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "mental retardation, Growth retardation, prominent columella, and open mouth",
            "description": ""
        },
        {
            "id": "MIM:212066",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212066",
            "name": "Congenital disorder of glycosylation 2A",
            "description": "Congenital disorder of glycosylation 2A"
        }
    ],
    "children": [
        {
            "id": "DOID:0051047",
            "label": "congenital disorder of glycosylation type IIbb",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051048",
            "label": "congenital disorder of glycosylation type IIr",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051049",
            "label": "congenital disorder of glycosylation type IIt",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051050",
            "label": "congenital disorder of glycosylation type IIv",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051051",
            "label": "congenital disorder of glycosylation type IIw",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051052",
            "label": "congenital disorder of glycosylation type IIy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051053",
            "label": "congenital disorder of glycosylation type IIz",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070253",
            "label": "congenital disorder of glycosylation type IIa",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070254",
            "label": "congenital disorder of glycosylation type IIb",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070255",
            "label": "congenital disorder of glycosylation type IIc",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070256",
            "label": "congenital disorder of glycosylation type IId",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070257",
            "label": "congenital disorder of glycosylation type IIe",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070258",
            "label": "congenital disorder of glycosylation type IIf",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070259",
            "label": "congenital disorder of glycosylation type IIg",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070260",
            "label": "congenital disorder of glycosylation type IIh",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070261",
            "label": "congenital disorder of glycosylation type IIi",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070262",
            "label": "congenital disorder of glycosylation type IIj",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070263",
            "label": "congenital disorder of glycosylation type IIk",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070264",
            "label": "congenital disorder of glycosylation type IIl",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070265",
            "label": "congenital disorder of glycosylation type IIm",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070266",
            "label": "congenital disorder of glycosylation type IIn",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070267",
            "label": "congenital disorder of glycosylation type IIo",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070268",
            "label": "congenital disorder of glycosylation type IIp",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070269",
            "label": "congenital disorder of glycosylation type IIq",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070262",
        "DOID:0070265",
        "DOID:0070257",
        "DOID:0070256",
        "DOID:0070267",
        "DOID:0051047",
        "DOID:0051053",
        "DOID:0070255",
        "DOID:0051051",
        "DOID:0051049",
        "DOID:0051050",
        "DOID:0070269",
        "DOID:0050571",
        "DOID:0070266",
        "DOID:0070261",
        "DOID:0070264",
        "DOID:0070253",
        "DOID:0070263",
        "DOID:0070258",
        "DOID:0051048",
        "DOID:0051052",
        "DOID:0070254",
        "DOID:0070260",
        "DOID:0070268",
        "DOID:0070259"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050571",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050571",
            "categories": []
        },
        {
            "id": "MONDO:0008908",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "categories": []
        },
        {
            "id": "MIM:212066",
            "database": "MIM",
            "url": "https://www.omim.org/entry/212066",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q10469-1",
            "uniprot_ac": "Q10469",
            "uniprot_id": "MGAT2_HUMAN",
            "refseq_ac": "NP_002399",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.143",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,2-N-acetylglucosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "GNT-II",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-T II",
                    "type": "synonym"
                },
                {
                    "name": "Mannoside acetylglucosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-T II",
                    "type": "synonym"
                },
                {
                    "name": "mannoside acetylglucosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MGAT2",
                    "type": "recommended"
                },
                {
                    "name": "CDG2A",
                    "type": "synonym"
                },
                {
                    "name": "CDGS2",
                    "type": "synonym"
                },
                {
                    "name": "GLCNACTII",
                    "type": "synonym"
                },
                {
                    "name": "GNT-II",
                    "type": "synonym"
                },
                {
                    "name": "GNT2",
                    "type": "synonym"
                },
                {
                    "name": "MGAT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q10469-1",
            "evidence": [
                {
                    "id": "4247",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/4247#disease"
                },
                {
                    "id": "212066",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/212066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1PD64-1",
            "uniprot_ac": "A0A8M1PD64",
            "uniprot_id": "A0A8M1PD64_DANRE",
            "refseq_ac": "NP_955924",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin 5A, like",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 5A, like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stx5al",
                    "type": "recommended"
                },
                {
                    "name": "stx5al",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb81g12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73276",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PD64-1",
            "evidence": [
                {
                    "id": "0050571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BH03-1",
            "uniprot_ac": "A0A8M2BH03",
            "uniprot_id": "A0A8M2BH03_DANRE",
            "refseq_ac": "XP_005169110",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-fucose transporter 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc35c1",
                    "type": "recommended"
                },
                {
                    "name": "fc03b12",
                    "type": "synonym"
                },
                {
                    "name": "slc35c1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc03b12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101867",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BH03-1",
            "evidence": [
                {
                    "id": "0050571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1E0-1",
            "uniprot_ac": "Q8K1E0",
            "uniprot_id": "STX5_MOUSE",
            "refseq_ac": "NP_001161271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-5",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stx5a",
                    "type": "recommended"
                },
                {
                    "name": "Stx5",
                    "type": "recommended"
                },
                {
                    "name": "0610031F24Rik",
                    "type": "synonym"
                },
                {
                    "name": "D19Ertd627e",
                    "type": "synonym"
                },
                {
                    "name": "Stx5a",
                    "type": "synonym"
                },
                {
                    "name": "Stx5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K1E0-1",
            "evidence": [
                {
                    "id": "0050571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BLX4-1",
            "uniprot_ac": "Q8BLX4",
            "uniprot_id": "FUCT1_MOUSE",
            "refseq_ac": "NP_997597",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GDP-fucose transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "GDP-fucose transporter 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GDP-fucose transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 35 member C1",
                    "type": "synonym"
                },
                {
                    "name": "multispan transmembrane protein fuct1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc35c1",
                    "type": "recommended"
                },
                {
                    "name": "E430007K15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fuct1",
                    "type": "synonym"
                },
                {
                    "name": "Slc35c1",
                    "type": "synonym"
                },
                {
                    "name": "fuct1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BLX4-1",
            "evidence": [
                {
                    "id": "0050571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52875-1",
            "uniprot_ac": "P52875",
            "uniprot_id": "TM165_MOUSE",
            "refseq_ac": "NP_035756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative divalent cation/proton antiporter TMEM165",
                    "type": "recommended"
                },
                {
                    "name": "TPA regulated locus",
                    "type": "synonym"
                },
                {
                    "name": "TPA-regulated locus protein",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 165",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein PFT27",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein TPARL",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165 precursor",
                    "type": "synonym"
                },
                {
                    "name": "putative divalent cation/proton antiporter TMEM165",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 164",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein PFT27",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein TPARL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem165",
                    "type": "recommended"
                },
                {
                    "name": "Tmem165",
                    "type": "synonym"
                },
                {
                    "name": "Tpardl",
                    "type": "synonym"
                },
                {
                    "name": "Tparl",
                    "type": "synonym"
                },
                {
                    "name": "pFT27",
                    "type": "synonym"
                }
            ],
            "record_id": "P52875-1",
            "evidence": [
                {
                    "id": "0050571",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050571"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BM72-1",
            "uniprot_ac": "Q8BM72",
            "uniprot_id": "HSP13_MOUSE",
            "refseq_ac": "NP_084477",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock 70 kDa protein 13",
                    "type": "recommended"
                },
                {
                    "name": "Microsomal stress-70 protein ATPase core",
                    "type": "synonym"
                },
                {
                    "name": "Stress-70 protein chaperone microsome-associated 60 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein 13 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70 kDa protein 13",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70 family, member 13",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70kDa family, member 13",
                    "type": "synonym"
                },
                {
                    "name": "microsomal stress-70 protein ATPase core",
                    "type": "synonym"
                },
                {
                    "name": "stress 70 protein chaperone, microsome-associated, 60kD human homolog",
                    "type": "synonym"
                },
                {
                    "name": "stress 70 protein chaperone, microsome-associated, human homolog",
                    "type": "synonym"
                },
                {
                    "name": "stress-70 protein chaperone microsome-associated 60 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspa13",
                    "type": "recommended"
                },
                {
                    "name": "1600002I10Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230217N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hspa13",
                    "type": "synonym"
                },
                {
                    "name": "Stch",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BM72-1",
            "evidence": [
                {
                    "id": "0050571",
                    "database": "AGR",
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}