{
    "disease_id": "DOID:0080555",
    "recommended_name": {
        "id": "DOID:0080555",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080555",
        "name": "congenital disorder of glycosylation Ic",
        "description": "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0080555",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080555",
            "name": "congenital disorder of glycosylation 1c",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-congenital disorder of glycosylation 1C",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)."
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6 congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-CDG (CDG-Ic)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-CDG1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-congenital disorder of glycosylation 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG syndrome type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG-Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDGIc",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate deficient glycoprotein syndrome type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation caused by mutation in ALG6",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "glucosyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDGS5 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome, type V (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation, type Ic",
            "description": ""
        },
        {
            "id": "MIM:603147",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603147",
            "name": "Congenital disorder of glycosylation 1C",
            "description": "Congenital disorder of glycosylation 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080555"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080555",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080555",
            "categories": []
        },
        {
            "id": "MONDO:0011291",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "categories": []
        },
        {
            "id": "MIM:603147",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603147",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y672-1",
            "uniprot_ac": "Q9Y672",
            "uniprot_id": "ALG6_HUMAN",
            "refseq_ac": "NP_037471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.267",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG6",
                    "type": "recommended"
                },
                {
                    "name": "ALG6",
                    "type": "synonym"
                },
                {
                    "name": "CDG1C",
                    "type": "synonym"
                },
                {
                    "name": "My046",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y672-1",
            "evidence": [
                {
                    "id": "29929",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/29929#disease"
                },
                {
                    "id": "0011291",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011291"
                },
                {
                    "id": "603147",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603147"
                },
                {
                    "id": "ALG6",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ALG6/#!details"
                },
                {
                    "id": "0080555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58JR12-1",
            "uniprot_ac": "A0AC58JR12",
            "uniprot_id": "A0AC58JR12_DANRE",
            "refseq_ac": "XP_073808934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alg6",
                    "type": "recommended"
                },
                {
                    "name": "alg6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100813",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JR12-1",
            "evidence": [
                {
                    "id": "0080555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TAE8-1",
            "uniprot_ac": "Q3TAE8",
            "uniprot_id": "ALG6_MOUSE",
            "refseq_ac": "NP_001074733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.267",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3,-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg6",
                    "type": "recommended"
                },
                {
                    "name": "Alg6",
                    "type": "synonym"
                },
                {
                    "name": "E230028F23Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TAE8-1",
            "evidence": [
                {
                    "id": "0080555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12001-1",
            "uniprot_ac": "Q12001",
            "uniprot_id": "ALG6_YEAST",
            "refseq_ac": "NP_014644",
            "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 Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.267",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG6",
                    "type": "recommended"
                },
                {
                    "name": "ALG6",
                    "type": "synonym"
                },
                {
                    "name": "UNA544",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12001-1",
            "evidence": [
                {
                    "id": "0080555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3T1L5-1",
            "uniprot_ac": "Q3T1L5",
            "uniprot_id": "ALG6_RAT",
            "refseq_ac": "NP_001028881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.267",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3,-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg6",
                    "type": "recommended"
                },
                {
                    "name": "Alg6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3T1L5-1",
            "evidence": [
                {
                    "id": "0080555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKX7-1",
            "uniprot_ac": "Q9VKX7",
            "uniprot_id": "ALG6_DROME",
            "refseq_ac": "NP_001260338",
            "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 Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.267",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG5091-PB",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "garnysstan, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "gny-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gny",
                    "type": "recommended"
                },
                {
                    "name": "Alg6",
                    "type": "synonym"
                },
                {
                    "name": "CG5091",
                    "type": "synonym"
                },
                {
                    "name": "Dalg6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5091",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5091",
                    "type": "synonym"
                },
                {
                    "name": "Gny[",
                    "type": "synonym"
                },
                {
                    "name": "alg6",
                    "type": "synonym"
                },
                {
                    "name": "dAlg6",
                    "type": "synonym"
                },
                {
                    "name": "gny",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKX7-1",
            "evidence": [
                {
                    "id": "0080555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080555"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080555"
}