{
    "disease_id": "DOID:0070253",
    "recommended_name": {
        "id": "DOID:0070253",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070253",
        "name": "congenital disorder of glycosylation type IIa",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "Alkuraya syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "CDG IIa",
            "description": ""
        },
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "CDG2A",
            "description": ""
        },
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "CDGIIa",
            "description": ""
        },
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "CDGS2",
            "description": ""
        },
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "congenital disorder of glycosylation, type IIa",
            "description": ""
        },
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "carbohydrate-deficient glycoprotein syndrome, type II",
            "description": ""
        },
        {
            "id": "DOID:0070253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "name": "mental retardation, growth retardation, prominent columella, and open mouth",
            "description": ""
        },
        {
            "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_list": [
        "DOID:0070253"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070253",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070253",
            "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": "0008908",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008908"
                },
                {
                    "id": "212066",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/212066"
                },
                {
                    "id": "MGAT2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MGAT2/#!details"
                },
                {
                    "id": "0070253",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070253"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921V5-1",
            "uniprot_ac": "Q921V5",
            "uniprot_id": "MGAT2_MOUSE",
            "refseq_ac": "NP_666147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,2-N-acetylglucosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-T II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mgat2",
                    "type": "recommended"
                },
                {
                    "name": "CDGS2",
                    "type": "synonym"
                },
                {
                    "name": "GLCNACTII",
                    "type": "synonym"
                },
                {
                    "name": "GNT-II",
                    "type": "synonym"
                },
                {
                    "name": "GNT2",
                    "type": "synonym"
                },
                {
                    "name": "Mgat2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921V5-1",
            "evidence": [
                {
                    "id": "0070253",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070253"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q09326-1",
            "uniprot_ac": "Q09326",
            "uniprot_id": "MGAT2_RAT",
            "refseq_ac": "NP_446056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "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": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,2-N-acetylglucosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "beta-12-N-acetylglucosaminyltransferase II",
                    "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": "Gnt2",
                    "type": "synonym"
                },
                {
                    "name": "Mgat2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q09326-1",
            "evidence": [
                {
                    "id": "0070253",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070253"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070253"
}