{
    "disease_id": "DOID:0080557",
    "recommended_name": {
        "id": "DOID:0080557",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080557",
        "name": "congenital disorder of glycosylation Ie",
        "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080557",
            "name": "congenital disorder of glycosylation 1e",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type 1E",
            "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common."
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG syndrome type Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG-Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDGIe",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "DPM1 congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "Dol-P-mannosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "carbohydrate deficient glycoprotein syndrome type Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation caused by mutation in DPM1",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type 1e",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG 1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "DPM1-CDG (CDG-Ie)",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation, type Ie",
            "description": ""
        },
        {
            "id": "MIM:608799",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608799",
            "name": "Congenital disorder of glycosylation 1E",
            "description": "Congenital disorder of glycosylation 1E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080557"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080557",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080557",
            "categories": []
        },
        {
            "id": "MONDO:0012123",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "categories": []
        },
        {
            "id": "MIM:608799",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608799",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O60762-1",
            "uniprot_ac": "O60762",
            "uniprot_id": "DPM1_HUMAN",
            "refseq_ac": "NP_001303963",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol-phosphate mannosyltransferase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.83",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase complex, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "MPD synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-P-dolichol synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol monophosphate mannose synthase",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannosyltransferase subunit 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-D-mannosyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mannose-P-dolichol synthase subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPM1",
                    "type": "recommended"
                },
                {
                    "name": "CDGIE",
                    "type": "synonym"
                },
                {
                    "name": "DPM1",
                    "type": "synonym"
                },
                {
                    "name": "MPDS",
                    "type": "synonym"
                }
            ],
            "record_id": "O60762-1",
            "evidence": [
                {
                    "id": "8813",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/8813#disease"
                },
                {
                    "id": "0012123",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012123"
                },
                {
                    "id": "608799",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608799"
                },
                {
                    "id": "DPM1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DPM1/#!details"
                },
                {
                    "id": "0080557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70152-1",
            "uniprot_ac": "O70152",
            "uniprot_id": "DPM1_MOUSE",
            "refseq_ac": "NP_001297013",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol-phosphate mannosyltransferase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.83",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "MPD synthase",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-P-dolichol synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate (beta-D) mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannose synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannosyltransferase subunit 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-D-mannosyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-P-dolichol synthase subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpm1",
                    "type": "recommended"
                },
                {
                    "name": "Dpm1",
                    "type": "synonym"
                }
            ],
            "record_id": "O70152-1",
            "evidence": [
                {
                    "id": "0080557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14020-1",
            "uniprot_ac": "P14020",
            "uniprot_id": "DPM1_YEAST",
            "refseq_ac": "NP_015509",
            "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": "Dolichol-phosphate mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.83",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate beta-D-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "MPD synthase",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-P-dolichol synthase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-D-mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPM1",
                    "type": "recommended"
                },
                {
                    "name": "DPM1",
                    "type": "synonym"
                },
                {
                    "name": "P9705.3",
                    "type": "synonym"
                },
                {
                    "name": "SED3",
                    "type": "synonym"
                }
            ],
            "record_id": "P14020-1",
            "evidence": [
                {
                    "id": "0080557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8N1-1",
            "uniprot_ac": "D4A8N1",
            "uniprot_id": "D4A8N1_RAT",
            "refseq_ac": "NP_001100014",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol-phosphate mannosyltransferase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.83",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate (beta-D) mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichol-phosphate mannosyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpm1",
                    "type": "recommended"
                },
                {
                    "name": "Dpm1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A8N1-1",
            "evidence": [
                {
                    "id": "0080557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97840-1",
            "uniprot_ac": "P97840",
            "uniprot_id": "LEG9_RAT",
            "refseq_ac": "NP_037109",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galectin-9",
                    "type": "recommended"
                },
                {
                    "name": "36 kDa beta-galactoside-binding lectin",
                    "type": "synonym"
                },
                {
                    "name": "Gal-9",
                    "type": "synonym"
                },
                {
                    "name": "Lectin, galactose binding, soluble 9 (Galectin-9)",
                    "type": "synonym"
                },
                {
                    "name": "UAT",
                    "type": "synonym"
                },
                {
                    "name": "Urate transporter/channel",
                    "type": "synonym"
                },
                {
                    "name": "gal-9",
                    "type": "synonym"
                },
                {
                    "name": "galectin-9 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lectin, galactoside-binding, soluble, 9",
                    "type": "synonym"
                },
                {
                    "name": "urate transporter/channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgals9",
                    "type": "recommended"
                },
                {
                    "name": "Lgals9",
                    "type": "synonym"
                },
                {
                    "name": "UAT",
                    "type": "synonym"
                }
            ],
            "record_id": "P97840-1",
            "evidence": [
                {
                    "id": "0080557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIU7-1",
            "uniprot_ac": "Q9VIU7",
            "uniprot_id": "DPM1_DROME",
            "refseq_ac": "NP_609980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichol-phosphate mannosyltransferase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.83",
                    "type": "synonym"
                },
                {
                    "name": "CG10166-PA",
                    "type": "synonym"
                },
                {
                    "name": "DPM synthase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannose synthase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichol-phosphate mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate beta-D-mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate mannosyltransferase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Dpm1-PA",
                    "type": "synonym"
                },
                {
                    "name": "MPD synthase",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-P-dolichol synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpm1",
                    "type": "recommended"
                },
                {
                    "name": "CG10166",
                    "type": "synonym"
                },
                {
                    "name": "DPM1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10166",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-ManTase",
                    "type": "synonym"
                },
                {
                    "name": "Dpm1",
                    "type": "synonym"
                },
                {
                    "name": "dDPM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIU7-1",
            "evidence": [
                {
                    "id": "0080557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080557"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080557"
}