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        "title": "Molybdenum cofactor deficiency: clinical features in a Turkish patient.",
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        "title": "The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames.",
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        "authors": "Sloan J, Kinghorn J R, Unkles S E",
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    {
        "title": "Perturbation of free oligosaccharide trafficking in endoplasmic reticulum glucosidase I-deficient and castanospermine-treated cells.",
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        "authors": "Durrant C, Moore SE",
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    {
        "title": "Glycosylation, hypogammaglobulinemia, and resistance to viral infections.",
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        "authors": "Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJY, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Priel DAL, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD",
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                    },
                    {
                        "id": "24716661",
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                    }
                ],
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                            "id": "DOID:0070254",
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                            "url": "https://disease-ontology.org/term/DOID:0070254",
                            "name": "congenital disorder of glycosylation type IIb",
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                        },
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                                "id": "DOID:0070254",
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                                "url": "https://disease-ontology.org/term/DOID:0070254",
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                            },
                            {
                                "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",
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                                "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": ""
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                            {
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    {
        "title": "Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.",
        "journal": "American journal of human genetics",
        "date": "2016-02-04",
        "authors": "Kane Megan S, Davids Mariska, Adams Christopher, Wolfe Lynne A, Cheung Helen W, Gropman Andrea, Huang Yan,  , Ng Bobby G, Freeze Hudson H, Adams David R, Gahl William A, Boerkoel Cornelius F",
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            }
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                ],
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                            },
                            {
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                            },
                            {
                                "id": "MONDO:0011629",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                            },
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                                "id": "MONDO:0011629",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011629",
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                                "url": "https://www.omim.org/entry/606056",
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        "authors": "Crawley SC, Gum JR Jr, Hicks JW, Pratt WS, Aubert JP, Swallow DM, Kim YS",
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