{
    "disease_id": "DOID:0111238",
    "recommended_name": {
        "id": "DOID:0111238",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111238",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A13",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111238",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13",
            "description": ""
        },
        {
            "id": "DOID:0111238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111238",
            "name": "MDDGA13",
            "description": ""
        },
        {
            "id": "DOID:0111238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111238",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related",
            "description": ""
        },
        {
            "id": "DOID:0111238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111238",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related",
            "description": ""
        },
        {
            "id": "MONDO:0014120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014120",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13",
            "description": ""
        },
        {
            "id": "MONDO:0014120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014120",
            "name": "MDDGA13",
            "description": ""
        },
        {
            "id": "MONDO:0014120",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014120",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13",
            "description": ""
        },
        {
            "id": "MIM:615287",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615287",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111238"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111238",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111238",
            "categories": []
        },
        {
            "id": "MONDO:0014120",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014120",
            "categories": []
        },
        {
            "id": "MIM:615287",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615287",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "L7YAI7-1",
            "uniprot_ac": "L7YAI7",
            "uniprot_id": "B4GA1_DANRE",
            "refseq_ac": "NP_001265757",
            "glycoprotein": "yes",
            "species": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "b4gat1",
                    "type": "recommended"
                },
                {
                    "name": "b3gnt1",
                    "type": "synonym"
                },
                {
                    "name": "b4gat1",
                    "type": "synonym"
                }
            ],
            "record_id": "L7YAI7-1",
            "evidence": [
                {
                    "id": "0111238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111238"
                }
            ]
        },
        {
            "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q8BWP8-1",
            "evidence": [
                {
                    "id": "0111238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43505-1",
            "uniprot_ac": "O43505",
            "uniprot_id": "B4GA1_HUMAN",
            "refseq_ac": "NP_006867",
            "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-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-1,3-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"
                }
            ],
            "gene_names": [
                {
                    "name": "B4GAT1",
                    "type": "recommended"
                },
                {
                    "name": "B3GN-T1",
                    "type": "synonym"
                },
                {
                    "name": "B3GNT1",
                    "type": "synonym"
                },
                {
                    "name": "B3GNT6",
                    "type": "synonym"
                },
                {
                    "name": "B4GAT1",
                    "type": "synonym"
                },
                {
                    "name": "BETA3GNTI",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA13",
                    "type": "synonym"
                },
                {
                    "name": "iGAT",
                    "type": "synonym"
                },
                {
                    "name": "iGNT",
                    "type": "synonym"
                }
            ],
            "record_id": "O43505-1",
            "evidence": [
                {
                    "id": "0014120",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014120"
                },
                {
                    "id": "615287",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615287"
                },
                {
                    "id": "0111238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZHA1-1",
            "uniprot_ac": "D3ZHA1",
            "uniprot_id": "D3ZHA1_RAT",
            "refseq_ac": "NP_001099794",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-glucuronyltransferase 1",
                    "type": "recommended"
                },
                {
                    "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-1,4-glucuronyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B4gat1",
                    "type": "recommended"
                },
                {
                    "name": "B3gnt1",
                    "type": "synonym"
                },
                {
                    "name": "B4gat1",
                    "type": "synonym"
                },
                {
                    "name": "LOC100911750",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZHA1-1",
            "evidence": [
                {
                    "id": "0111238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1A7-1",
            "uniprot_ac": "Q9W1A7",
            "uniprot_id": "Q9W1A7_DROME",
            "refseq_ac": "NP_001246488",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-1,4-glucuronyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "CG3253-PB",
                    "type": "synonym"
                },
                {
                    "name": "I-beta-1,3-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "L-gene",
                    "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": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEST:GH04269",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH04269",
                    "type": "synonym"
                },
                {
                    "name": "CG3253",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3253",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3253",
                    "type": "synonym"
                },
                {
                    "name": "dibeta3GnT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1A7-1",
            "evidence": [
                {
                    "id": "0111238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK55-1",
            "uniprot_ac": "Q9VK55",
            "uniprot_id": "Q9VK55_DROME",
            "refseq_ac": "NP_609592",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15483-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15483",
                    "type": "recommended"
                },
                {
                    "name": "CG15483",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15483",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15483",
                    "type": "synonym"
                },
                {
                    "name": "dibeta3GnT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK55-1",
            "evidence": [
                {
                    "id": "0111238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111238"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111238"
}