{
    "disease_id": "DOID:0050588",
    "recommended_name": {
        "id": "DOID:0050588",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050588",
        "name": "muscular dystrophy-dystroglycanopathy type B1",
        "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase."
    },
    "synonyms": [
        {
            "id": "DOID:0050588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050588",
            "name": "CMD due to dystroglycanopathy",
            "description": ""
        },
        {
            "id": "DOID:0050588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050588",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "congenital muscular dystrophy-POMT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "MDDGB1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1",
            "description": ""
        },
        {
            "id": "MONDO:0013159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1",
            "description": ""
        },
        {
            "id": "MIM:613155",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613155",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050588"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050588",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050588",
            "categories": []
        },
        {
            "id": "MONDO:0013159",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013159",
            "categories": []
        },
        {
            "id": "MIM:613155",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613155",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AHJ9-1",
            "uniprot_ac": "A0A8M3AHJ9",
            "uniprot_id": "A0A8M3AHJ9_DANRE",
            "refseq_ac": "XP_009290059",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Inositol polyphosphate 5-phosphatase Ka isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase Ka isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "inpp5ka",
                    "type": "recommended"
                },
                {
                    "name": "inpp5ka",
                    "type": "synonym"
                },
                {
                    "name": "inpp5k",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162883",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AHJ9-1",
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                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
        {
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            "uniprot_ac": "F1QF89",
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            "refseq_ac": "NP_001041532",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Protein O-mannosyl-transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "pomt1",
                    "type": "recommended"
                },
                {
                    "name": "pomt1",
                    "type": "synonym"
                },
                {
                    "name": "zPOMT1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153731",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q66PG2-1",
            "uniprot_ac": "Q66PG2",
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            "refseq_ac": "NP_001004537",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Xylosyl- and glucuronyltransferase LARGE1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Acetylglucosaminyltransferase-like 1A",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "LARGE xylosyl- and glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "acetylglucosaminyltransferase-like 1A",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like 1A",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like protein LARGE1",
                    "type": "synonym"
                },
                {
                    "name": "like-glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "xylosyl- and glucuronyltransferase LARGE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "large1",
                    "type": "recommended"
                },
                {
                    "name": "large1",
                    "type": "synonym"
                },
                {
                    "name": "large",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050588",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
        {
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            "uniprot_ac": "L7YAI7",
            "uniprot_id": "B4GA1_DANRE",
            "refseq_ac": "NP_001265757",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-glucuronyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "I-beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-N-acetylglycosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "b4gat1",
                    "type": "recommended"
                },
                {
                    "name": "b3gnt1",
                    "type": "synonym"
                },
                {
                    "name": "b4gat1",
                    "type": "synonym"
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            ],
            "record_id": "L7YAI7-1",
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                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QNB2-1",
            "uniprot_ac": "F1QNB2",
            "uniprot_id": "F1QNB2_DANRE",
            "refseq_ac": "NP_001036152",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "Protein O-Mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pomgnt1",
                    "type": "recommended"
                },
                {
                    "name": "im:7151461",
                    "type": "synonym"
                },
                {
                    "name": "pomgnt1",
                    "type": "synonym"
                },
                {
                    "name": "zPOMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158130",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QNB2-1",
            "evidence": [
                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWP8-1",
            "uniprot_ac": "Q8BWP8",
            "uniprot_id": "B4GA1_MOUSE",
            "refseq_ac": "NP_780592",
            "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-glucuronyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "I-beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "iGnT",
                    "type": "synonym"
                },
                {
                    "name": "poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "B4gat1",
                    "type": "recommended"
                },
                {
                    "name": "1500032M01Rik",
                    "type": "synonym"
                },
                {
                    "name": "B3gnt1",
                    "type": "synonym"
                },
                {
                    "name": "B3gnt6",
                    "type": "synonym"
                },
                {
                    "name": "B4gat1",
                    "type": "synonym"
                },
                {
                    "name": "BETA3GNT1",
                    "type": "synonym"
                },
                {
                    "name": "iGAT",
                    "type": "synonym"
                },
                {
                    "name": "iGNT",
                    "type": "synonym"
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            ],
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                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q8R507-1",
            "uniprot_ac": "Q8R507",
            "uniprot_id": "FKTN_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate transferase FKTN",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy (fukutin)",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
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                }
            ],
            "gene_names": [
                {
                    "name": "Fktn",
                    "type": "recommended"
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                {
                    "name": "D830030O17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fcmd",
                    "type": "synonym"
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                {
                    "name": "Fktn",
                    "type": "synonym"
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            ],
            "record_id": "Q8R507-1",
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                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91X88-1",
            "uniprot_ac": "Q91X88",
            "uniprot_id": "PMGT1_MOUSE",
            "refseq_ac": "NP_001277587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
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            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "recommended"
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                {
                    "name": "2.4.1.-",
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                {
                    "name": "O-mannosyl N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
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            ],
            "gene_names": [
                {
                    "name": "Pomgnt1",
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                    "name": "0610016I07Rik",
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                {
                    "name": "4930467B06Rik",
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                {
                    "name": "Pomgnt1",
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            ],
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                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
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        {
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            "uniprot_ac": "Q9Z1M7",
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            "refseq_ac": "NP_001304320",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Xylosyl- and glucuronyltransferase LARGE1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Acetylglucosaminyltransferase-like 1A",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "LARGE xylosyl- and glucuronyltransferase 1",
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                },
                {
                    "name": "acetylglucosaminyltransferase-like 1A",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like protein LARGE1",
                    "type": "synonym"
                },
                {
                    "name": "like-glycosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "myodystrophy",
                    "type": "synonym"
                },
                {
                    "name": "xylosyl- and glucuronyltransferase LARGE1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyl- and glucuronyltransferase LARGE1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Large1",
                    "type": "recommended"
                },
                {
                    "name": "BPFD#36",
                    "type": "synonym"
                },
                {
                    "name": "Gyltl1a",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0609",
                    "type": "synonym"
                },
                {
                    "name": "Large1",
                    "type": "synonym"
                },
                {
                    "name": "Large",
                    "type": "synonym"
                },
                {
                    "name": "Mbp-1",
                    "type": "synonym"
                },
                {
                    "name": "Mbp1",
                    "type": "synonym"
                },
                {
                    "name": "enr",
                    "type": "synonym"
                },
                {
                    "name": "fg",
                    "type": "synonym"
                },
                {
                    "name": "froggy",
                    "type": "synonym"
                },
                {
                    "name": "myd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1M7-1",
            "evidence": [
                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CG64-1",
            "uniprot_ac": "Q8CG64",
            "uniprot_id": "FKRP_MOUSE",
            "refseq_ac": "NP_775606",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol 5-phosphate transferase FKRP",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol 5-phosphate transferase FKRP",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkrp",
                    "type": "recommended"
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                    "id": "0050588",
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                {
                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Ribitol 5-phosphate transferase FKRP",
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                },
                {
                    "name": "2.7.8.-",
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                },
                {
                    "name": "Fukutin-related protein",
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                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol 5-phosphate transferase FKRP",
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                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "FKRP",
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                },
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                    "name": "FKRP",
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                },
                {
                    "name": "FKTR",
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                },
                {
                    "name": "LGMD2I",
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                },
                {
                    "name": "LGMDR9",
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                },
                {
                    "name": "MDC1C",
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                },
                {
                    "name": "MDDGA5",
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                },
                {
                    "name": "MDDGB5",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC5",
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                }
            ],
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                    "id": "0050588",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95461-1",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Xylosyl- and glucuronyltransferase LARGE1",
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                },
                {
                    "name": "2.4.-.-",
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                },
                {
                    "name": "Acetylglucosaminyltransferase-like 1A",
                    "type": "synonym"
                },
                {
                    "name": "Glycosyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "LARGE xylosyl- and glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "acetylglucosaminyltransferase-like 1A",
                    "type": "synonym"
                },
                {
                    "name": "acetylglucosaminyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like protein LARGE1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyl- and glucuronyltransferase LARGE1 isoform 1",
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                },
                {
                    "name": "xylosyl- and glucuronyltransferase LARGE1",
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                }
            ],
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                    "name": "LARGE1",
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                {
                    "name": "KIAA0609",
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                {
                    "name": "LARGE1",
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                {
                    "name": "LARGE",
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                {
                    "name": "MDC1D",
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                },
                {
                    "name": "MDDGA6",
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                },
                {
                    "name": "MDDGB6",
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                }
            ],
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                    "id": "0050588",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O75072-1",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Ribitol-5-phosphate transferase FKTN",
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                },
                {
                    "name": "2.7.8.-",
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                },
                {
                    "name": "Fukutin",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "patient fukutin",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN isoform a",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKTN",
                    "type": "recommended"
                },
                {
                    "name": "CMD1X",
                    "type": "synonym"
                },
                {
                    "name": "FCMD",
                    "type": "synonym"
                },
                {
                    "name": "FKTN",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2M",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR13",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA4",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB4",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC4",
                    "type": "synonym"
                }
            ],
            "record_id": "O75072-1",
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                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43505-1",
            "uniprot_ac": "O43505",
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            "refseq_ac": "NP_006867",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Beta-1,4-glucuronyltransferase 1",
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                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "I-beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-N-acetylglucosaminyltransferase bGnT-6",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,4-glucuronyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "i-beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "iGnT",
                    "type": "synonym"
                },
                {
                    "name": "poly-N-acetyllactosamine extension enzyme",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "B4GAT1",
                    "type": "recommended"
                },
                {
                    "name": "B3GN-T1",
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                },
                {
                    "name": "B3GNT1",
                    "type": "synonym"
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                {
                    "name": "B3GNT6",
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                {
                    "name": "B4GAT1",
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                {
                    "name": "BETA3GNTI",
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                },
                {
                    "name": "MDDGA13",
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                },
                {
                    "name": "iGAT",
                    "type": "synonym"
                },
                {
                    "name": "iGNT",
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                }
            ],
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                    "id": "0050588",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
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            "uniprot_canonical_ac": "Q8WZA1-1",
            "uniprot_ac": "Q8WZA1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GnT I.2",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "POMGNT1",
                    "type": "recommended"
                },
                {
                    "name": "GNTI.2",
                    "type": "synonym"
                },
                {
                    "name": "GnT I.2",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2O",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR15",
                    "type": "synonym"
                },
                {
                    "name": "MEB",
                    "type": "synonym"
                },
                {
                    "name": "MGAT1.2",
                    "type": "synonym"
                },
                {
                    "name": "POMGNT1",
                    "type": "synonym"
                },
                {
                    "name": "PRO1475",
                    "type": "synonym"
                },
                {
                    "name": "RP76",
                    "type": "synonym"
                },
                {
                    "name": "gnT-I.2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050588"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050588"
}