{
    "disease_id": "DOID:0080560",
    "recommended_name": {
        "id": "DOID:0080560",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080560",
        "name": "congenital disorder of glycosylation Ih",
        "description": "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080560",
            "name": "congenital disorder of glycosylation 1h",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation."
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG syndrome type Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG-Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG1H",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "carbohydrate deficient glycoprotein syndrome type Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "congenital disorder of glycosylation type 1h",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "congenital disorder of glycosylation type Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "glucosyltransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-CDG (CDG-Ih)",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG 1H",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "congenital disorder of glycosylation, type Ih",
            "description": ""
        },
        {
            "id": "MIM:608104",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608104",
            "name": "Congenital disorder of glycosylation 1H",
            "description": "Congenital disorder of glycosylation 1H"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080560"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080560",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080560",
            "categories": []
        },
        {
            "id": "MONDO:0011969",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "categories": []
        },
        {
            "id": "MIM:608104",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608104",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BVK2-1",
            "uniprot_ac": "Q9BVK2",
            "uniprot_id": "ALG8_HUMAN",
            "refseq_ac": "NP_001007028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "HUSSY-02",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1, 3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG8",
                    "type": "recommended"
                },
                {
                    "name": "ALG8",
                    "type": "synonym"
                },
                {
                    "name": "CDG1H",
                    "type": "synonym"
                },
                {
                    "name": "HUSSY-02",
                    "type": "synonym"
                },
                {
                    "name": "PCLD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BVK2-1",
            "evidence": [
                {
                    "id": "79053",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/79053#disease"
                },
                {
                    "id": "0011969",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011969"
                },
                {
                    "id": "608104",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608104"
                },
                {
                    "id": "ALG8",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG8/#!details"
                },
                {
                    "id": "0080560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P8H8-1",
            "uniprot_ac": "Q6P8H8",
            "uniprot_id": "ALG8_MOUSE",
            "refseq_ac": "NP_950200",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg8",
                    "type": "recommended"
                },
                {
                    "name": "Alg8",
                    "type": "synonym"
                },
                {
                    "name": "Gm1089",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P8H8-1",
            "evidence": [
                {
                    "id": "0080560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40351-1",
            "uniprot_ac": "P40351",
            "uniprot_id": "ALG8_YEAST",
            "refseq_ac": "NP_014710",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc1Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG8",
                    "type": "recommended"
                },
                {
                    "name": "ALG8",
                    "type": "synonym"
                },
                {
                    "name": "YOR29-18",
                    "type": "synonym"
                }
            ],
            "record_id": "P40351-1",
            "evidence": [
                {
                    "id": "0080560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PT91-1",
            "uniprot_ac": "E9PT91",
            "uniprot_id": "E9PT91_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg8",
                    "type": "recommended"
                }
            ],
            "record_id": "E9PT91-1",
            "evidence": [
                {
                    "id": "0080560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3V8-1",
            "uniprot_ac": "Q9W3V8",
            "uniprot_id": "ALG8_DROME",
            "refseq_ac": "NP_572355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG4542-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Protein xiantuan",
                    "type": "synonym"
                },
                {
                    "name": "xiantuan",
                    "type": "synonym"
                },
                {
                    "name": "xit-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "xit",
                    "type": "recommended"
                },
                {
                    "name": "Alg8",
                    "type": "synonym"
                },
                {
                    "name": "CG4542",
                    "type": "synonym"
                },
                {
                    "name": "Dalg8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4542",
                    "type": "synonym"
                },
                {
                    "name": "Xit",
                    "type": "synonym"
                },
                {
                    "name": "dAlg8",
                    "type": "synonym"
                },
                {
                    "name": "xit",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3V8-1",
            "evidence": [
                {
                    "id": "0080560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080560"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080560"
}