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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0051051",
                            "name": "congenital disorder of glycosylation type IIw",
                            "description": "A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23."
                        },
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                                "id": "MONDO:0030437",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0030437",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0030437",
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                                "description": ""
                            },
                            {
                                "id": "MIM:619525",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/619525",
                                "name": "Congenital disorder of glycosylation 2W",
                                "description": "Congenital disorder of glycosylation 2W"
                            }
                        ],
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                            },
                            {
                                "id": "SLC37A4",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/SLC37A4/#!details"
                            },
                            {
                                "id": "0051051",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0051051"
                            }
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0081330",
                            "name": "glycogen storage disease Ib",
                            "description": "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23."
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                                "id": "MONDO:0009288",
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                            },
                            {
                                "id": "MONDO:0009288",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                            {
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                ],
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        ],
        "record_id": "pubmed.10026167",
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    {
        "title": "Molecular diagnosis of type 1c glycogen storage disease.",
        "journal": "Hum. Genet.",
        "date": "1999",
        "authors": "Janecke A R, Bosshard N U, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, Bartram C R, Janssen B",
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                "start_pos": 348,
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                "sequence_mut": "null",
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        "title": "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.",
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        "authors": "Hou DC, Kure S, Suzuki Y, Hasegawa Y, Hara Y, Inoue T, Kida Y, Matsubara Y, Narisawa K",
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                "uniprot_canonical_ac": "O43826-1",
                "protein_name": "Glucose-6-phosphate exchanger SLC37A4",
                "gene_name": "SLC37A4",
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        ],
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                "name": "Homo sapiens",
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                            {
                                "id": "MONDO:0009288",
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                            {
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