{
    "disease_id": "DOID:0080562",
    "recommended_name": {
        "id": "DOID:0080562",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080562",
        "name": "congenital disorder of glycosylation Ij",
        "description": "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080562",
            "name": "Congenital disorder of glycosylation 1j",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-congenital disorder of glycosylation",
            "description": "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)."
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG syndrome type Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG-Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG1J",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDGIj",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "carbohydrate deficient glycoprotein syndrome type Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "congenital disorder of glycosylation type 1j",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "congenital disorder of glycosylation type Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG 1J",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-CDG (CDG-Ij)",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "congenital disorder of glycosylation, type Ij",
            "description": ""
        },
        {
            "id": "MIM:608093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608093",
            "name": "Congenital disorder of glycosylation 1J",
            "description": "Congenital disorder of glycosylation 1J"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080562"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080562",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080562",
            "categories": []
        },
        {
            "id": "MONDO:0011964",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "categories": []
        },
        {
            "id": "MIM:608093",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608093",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H3H5-1",
            "uniprot_ac": "Q9H3H5",
            "uniprot_id": "GPT_HUMAN",
            "refseq_ac": "NP_001373",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.15",
                    "type": "synonym"
                },
                {
                    "name": "G1PT",
                    "type": "synonym"
                },
                {
                    "name": "GPT",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-P transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-P transferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate alpha-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPAGT1",
                    "type": "recommended"
                },
                {
                    "name": "ALG7",
                    "type": "synonym"
                },
                {
                    "name": "CDG-Ij",
                    "type": "synonym"
                },
                {
                    "name": "CDG1J",
                    "type": "synonym"
                },
                {
                    "name": "CMS13",
                    "type": "synonym"
                },
                {
                    "name": "CMSTA2",
                    "type": "synonym"
                },
                {
                    "name": "D11S366",
                    "type": "synonym"
                },
                {
                    "name": "DGPT",
                    "type": "synonym"
                },
                {
                    "name": "DPAGT1",
                    "type": "synonym"
                },
                {
                    "name": "DPAGT2",
                    "type": "synonym"
                },
                {
                    "name": "DPAGT",
                    "type": "synonym"
                },
                {
                    "name": "G1PT",
                    "type": "synonym"
                },
                {
                    "name": "GPT",
                    "type": "synonym"
                },
                {
                    "name": "UAGT",
                    "type": "synonym"
                },
                {
                    "name": "UGAT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3H5-1",
            "evidence": [
                {
                    "id": "1798",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/1798#disease"
                },
                {
                    "id": "0011964",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011964"
                },
                {
                    "id": "608093",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608093"
                },
                {
                    "id": "DPAGT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DPAGT1/#!details"
                },
                {
                    "id": "0080562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42867-1",
            "uniprot_ac": "P42867",
            "uniprot_id": "GPT_MOUSE",
            "refseq_ac": "NP_031901",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.15",
                    "type": "synonym"
                },
                {
                    "name": "G1PT",
                    "type": "synonym"
                },
                {
                    "name": "GPT",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-P transferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine lysosomal enzyme N-acetylglucosamine phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate alpha-N-acetylglucosaminephosphotransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpagt1",
                    "type": "recommended"
                },
                {
                    "name": "Dpagt1",
                    "type": "synonym"
                },
                {
                    "name": "Dpagt2",
                    "type": "synonym"
                },
                {
                    "name": "G1PT",
                    "type": "synonym"
                },
                {
                    "name": "GPT",
                    "type": "synonym"
                },
                {
                    "name": "Gnpta",
                    "type": "synonym"
                }
            ],
            "record_id": "P42867-1",
            "evidence": [
                {
                    "id": "0080562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07286-1",
            "uniprot_ac": "P07286",
            "uniprot_id": "GPT_YEAST",
            "refseq_ac": "NP_009802",
            "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": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.15",
                    "type": "synonym"
                },
                {
                    "name": "G1PT",
                    "type": "synonym"
                },
                {
                    "name": "GPT",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-P transferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "Tunicamycin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG7",
                    "type": "recommended"
                },
                {
                    "name": "ALG7",
                    "type": "synonym"
                },
                {
                    "name": "TUR1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1628",
                    "type": "synonym"
                }
            ],
            "record_id": "P07286-1",
            "evidence": [
                {
                    "id": "0080562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7EMK2-1",
            "uniprot_ac": "F7EMK2",
            "uniprot_id": "F7EMK2_RAT",
            "refseq_ac": "NP_955420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.15",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-P transferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpagt1",
                    "type": "recommended"
                },
                {
                    "name": "Dpagt1",
                    "type": "synonym"
                },
                {
                    "name": "H2afx",
                    "type": "synonym"
                }
            ],
            "record_id": "F7EMK2-1",
            "evidence": [
                {
                    "id": "0080562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK30-1",
            "uniprot_ac": "Q9VK30",
            "uniprot_id": "Q9VK30_DROME",
            "refseq_ac": "NP_609608",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.15",
                    "type": "synonym"
                },
                {
                    "name": "Alg7 dolichyl-phosphate N-acetylglucosaminephosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Alg7-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG5287-PA",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-1-P transferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-1-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg7",
                    "type": "recommended"
                },
                {
                    "name": "Alg7",
                    "type": "synonym"
                },
                {
                    "name": "CG5287",
                    "type": "synonym"
                },
                {
                    "name": "DPAGT1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5287",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5287",
                    "type": "synonym"
                },
                {
                    "name": "dAlg7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK30-1",
            "evidence": [
                {
                    "id": "0080562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080562"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080562"
}