{
    "disease_id": "DOID:0070256",
    "recommended_name": {
        "id": "DOID:0070256",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070256",
        "name": "congenital disorder of glycosylation type IId",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070256",
            "name": "CDG IId",
            "description": ""
        },
        {
            "id": "DOID:0070256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070256",
            "name": "CDG2D",
            "description": ""
        },
        {
            "id": "DOID:0070256",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070256",
            "name": "CDGIId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "B4GALT1-congenital disorder of glycosylation",
            "description": "B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase."
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "B4GALT1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "B4GALT1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "Beta-1,4-galactosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG syndrome type IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG-IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG2D",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "carbohydrate deficient glycoprotein syndrome type IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "congenital disorder of glycosylation type 2d",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "congenital disorder of glycosylation type IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "B4GALT1-CDG (CDG-IId)",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG 2D",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "congenital disorder of glycosylation, type IId",
            "description": ""
        },
        {
            "id": "MIM:607091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607091",
            "name": "Congenital disorder of glycosylation 2D",
            "description": "Congenital disorder of glycosylation 2D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070256"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070256",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070256",
            "categories": []
        },
        {
            "id": "MONDO:0011772",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "categories": []
        },
        {
            "id": "MIM:607091",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607091",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15291-1",
            "uniprot_ac": "P15291",
            "uniprot_id": "B4GT1_HUMAN",
            "refseq_ac": "NP_001488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-galactosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.22",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.275",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.38",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.90",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-GalTase 1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta4Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "Lactose synthase A protein",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosamine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Nal synthase",
                    "type": "synonym"
                },
                {
                    "name": "Neolactotriaosylceramide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "b4Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-GalTase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-galactosyltransferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-4-beta-galactosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "lactose synthase A protein",
                    "type": "synonym"
                },
                {
                    "name": "nal synthase",
                    "type": "synonym"
                },
                {
                    "name": "neolactotriaosylceramide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4GALT1",
                    "type": "recommended"
                },
                {
                    "name": "B4GAL-T1",
                    "type": "synonym"
                },
                {
                    "name": "B4GALT1",
                    "type": "synonym"
                },
                {
                    "name": "CDG2D",
                    "type": "synonym"
                },
                {
                    "name": "CLDLFIB",
                    "type": "synonym"
                },
                {
                    "name": "GGTB2",
                    "type": "synonym"
                },
                {
                    "name": "GT1",
                    "type": "synonym"
                },
                {
                    "name": "GTB",
                    "type": "synonym"
                },
                {
                    "name": "beta4Gal-T1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15291-1",
            "evidence": [
                {
                    "id": "2683",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/2683#disease"
                },
                {
                    "id": "0011772",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011772"
                },
                {
                    "id": "607091",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607091"
                },
                {
                    "id": "B4GALT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B4GALT1/#!details"
                },
                {
                    "id": "0070256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15535-1",
            "uniprot_ac": "P15535",
            "uniprot_id": "B4GT1_MOUSE",
            "refseq_ac": "NP_071641",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-galactosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.22",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.275",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.38",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.90",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-GalTase 1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta4Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "Lactose synthase A protein",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosamine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Nal synthase",
                    "type": "synonym"
                },
                {
                    "name": "Neolactotriaosylceramide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "b1,4-Galactosyltransferase I",
                    "type": "synonym"
                },
                {
                    "name": "b4Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-GalTase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-galactosyltransferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactosyltransferase 2 beta 1, 4",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein galactosyltransferase beta 1, 4",
                    "type": "synonym"
                },
                {
                    "name": "lactose synthase A protein",
                    "type": "synonym"
                },
                {
                    "name": "long form",
                    "type": "synonym"
                },
                {
                    "name": "nal synthase",
                    "type": "synonym"
                },
                {
                    "name": "neolactotriaosylceramide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4galt1",
                    "type": "recommended"
                },
                {
                    "name": "4-GalT1",
                    "type": "synonym"
                },
                {
                    "name": "4-GalT",
                    "type": "synonym"
                },
                {
                    "name": "B-1",
                    "type": "synonym"
                },
                {
                    "name": "B4galt1",
                    "type": "synonym"
                },
                {
                    "name": "GalT",
                    "type": "synonym"
                },
                {
                    "name": "Ggtb2",
                    "type": "synonym"
                },
                {
                    "name": "Ggtb",
                    "type": "synonym"
                },
                {
                    "name": "b4Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1",
                    "type": "synonym"
                },
                {
                    "name": "beta4Gal-T1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15535-1",
            "evidence": [
                {
                    "id": "0070256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80225-1",
            "uniprot_ac": "P80225",
            "uniprot_id": "B4GT1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-galactosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.22",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.275",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.38",
                    "type": "synonym"
                },
                {
                    "name": "2.4.1.90",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,4-GalTase 1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Beta4Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "Lactose synthase A protein",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosamine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Nal synthase",
                    "type": "synonym"
                },
                {
                    "name": "Neolactotriaosylceramide beta-1,4-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "b4Gal-T1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4galt1",
                    "type": "recommended"
                },
                {
                    "name": "Ggtb2",
                    "type": "synonym"
                }
            ],
            "record_id": "P80225-1",
            "evidence": [
                {
                    "id": "0070256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070256"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KN92-1",
            "uniprot_ac": "Q7KN92",
            "uniprot_id": "B4GTA_DROME",
            "refseq_ac": "NP_610946",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta1,4-N-acetylgalactosaminyltransferase A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.244",
                    "type": "synonym"
                },
                {
                    "name": "CG8536-PA",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:betaGlcNAc beta-1,4GalNAc-transferase",
                    "type": "synonym"
                },
                {
                    "name": "beta1,4-N-acetylgalactosaminyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "beta1,4-N-acetylgalactosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalNAcTA-PA",
                    "type": "synonym"
                },
                {
                    "name": "dmGalT",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "beta4GalNAcTA",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH13356",
                    "type": "synonym"
                },
                {
                    "name": "CG8536",
                    "type": "synonym"
                },
                {
                    "name": "DmGalT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8536",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.128",
                    "type": "synonym"
                },
                {
                    "name": "b4GalNAcTA",
                    "type": "synonym"
                },
                {
                    "name": "beta4Gal-NAcTA",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalNAcT1",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalNAcTA",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalNacTA",
                    "type": "synonym"
                },
                {
                    "name": "beta4GalTA",
                    "type": "synonym"
                },
                {
                    "name": "dbeta4GalTA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KN92-1",
            "evidence": [
                {
                    "id": "0070256",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070256"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070256"
}