{
    "disease_id": "DOID:0111839",
    "recommended_name": {
        "id": "DOID:0111839",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111839",
        "name": "congenital disorder of glycosylation Icc",
        "description": "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111839",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111839",
            "name": "congenital disorder of glycosylation type Icc",
            "description": ""
        },
        {
            "id": "MONDO:0026729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026729",
            "name": "congenital disorder of glycosylation, type ICC",
            "description": ""
        },
        {
            "id": "MONDO:0026729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026729",
            "name": "congenital disorder of glycosylation, type Icc, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026729",
            "name": "CDG1CC",
            "description": ""
        },
        {
            "id": "MIM:301031",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301031",
            "name": "Congenital disorder of glycosylation 1CC",
            "description": "Congenital disorder of glycosylation 1CC"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111839"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111839",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111839",
            "categories": []
        },
        {
            "id": "MONDO:0026729",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026729",
            "categories": []
        },
        {
            "id": "MIM:301031",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301031",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV50-1",
            "uniprot_ac": "Q7ZV50",
            "uniprot_id": "MAGT1_DANRE",
            "refseq_ac": "NP_955994",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "magt1",
                    "type": "recommended"
                },
                {
                    "name": "fc49b02",
                    "type": "synonym"
                },
                {
                    "name": "magt1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc49b02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56218",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV50-1",
            "evidence": [
                {
                    "id": "0111839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQY5-1",
            "uniprot_ac": "Q9CQY5",
            "uniprot_id": "MAGT1_MOUSE",
            "refseq_ac": "NP_001177338",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magt1",
                    "type": "recommended"
                },
                {
                    "name": "2410001C15Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610529C04Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810482I07Rik",
                    "type": "synonym"
                },
                {
                    "name": "IAG2",
                    "type": "synonym"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Iag2",
                    "type": "synonym"
                },
                {
                    "name": "Magt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQY5-1",
            "evidence": [
                {
                    "id": "0111839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0U3-1",
            "uniprot_ac": "Q9H0U3",
            "uniprot_id": "MAGT1_HUMAN",
            "refseq_ac": "NP_115497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyltransferase 3 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "CDG1CC",
                    "type": "synonym"
                },
                {
                    "name": "IAG2",
                    "type": "synonym"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "MAGT1",
                    "type": "synonym"
                },
                {
                    "name": "MRX95",
                    "type": "synonym"
                },
                {
                    "name": "OST3B",
                    "type": "synonym"
                },
                {
                    "name": "PRO0756",
                    "type": "synonym"
                },
                {
                    "name": "PRO1244",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0084",
                    "type": "synonym"
                },
                {
                    "name": "SLC58A1",
                    "type": "synonym"
                },
                {
                    "name": "XMEN",
                    "type": "synonym"
                },
                {
                    "name": "bA217H1.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0U3-1",
            "evidence": [
                {
                    "id": "301031",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301031"
                },
                {
                    "id": "0111839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48439-1",
            "uniprot_ac": "P48439",
            "uniprot_id": "OST3_YEAST",
            "refseq_ac": "NP_014728",
            "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-diphosphooligosaccharide--protein glycosyltransferase subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Oligosaccharyl transferase 34 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit OST3",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycotransferase OST3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OST3",
                    "type": "recommended"
                },
                {
                    "name": "OST3",
                    "type": "synonym"
                },
                {
                    "name": "YOR3124W",
                    "type": "synonym"
                }
            ],
            "record_id": "P48439-1",
            "evidence": [
                {
                    "id": "0111839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03723-1",
            "uniprot_ac": "Q03723",
            "uniprot_id": "OST6_YEAST",
            "refseq_ac": "NP_013693",
            "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-diphosphooligosaccharide--protein glycosyltransferase subunit OST6",
                    "type": "recommended"
                },
                {
                    "name": "OTase 37 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 37 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit OST6",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OST6",
                    "type": "recommended"
                },
                {
                    "name": "OST6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03723-1",
            "evidence": [
                {
                    "id": "0111839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35777-1",
            "uniprot_ac": "O35777",
            "uniprot_id": "MAGT1_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": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1",
                    "type": "recommended"
                },
                {
                    "name": "IAP",
                    "type": "synonym"
                },
                {
                    "name": "Implantation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "MagT1",
                    "type": "synonym"
                },
                {
                    "name": "Magnesium transporter protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit MAGT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magt1",
                    "type": "recommended"
                },
                {
                    "name": "Iag2",
                    "type": "synonym"
                }
            ],
            "record_id": "O35777-1",
            "evidence": [
                {
                    "id": "0111839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111839"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111839"
}