{
    "disease_id": "DOID:0111230",
    "recommended_name": {
        "id": "DOID:0111230",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111230",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A11",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111230",
            "name": "MDDGA11",
            "description": ""
        },
        {
            "id": "DOID:0111230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111230",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related",
            "description": ""
        },
        {
            "id": "DOID:0111230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111230",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11",
            "description": ""
        },
        {
            "id": "MONDO:0014071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014071",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",
            "description": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene."
        },
        {
            "id": "MONDO:0014071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014071",
            "name": "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A",
            "description": ""
        },
        {
            "id": "MONDO:0014071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014071",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",
            "description": ""
        },
        {
            "id": "MONDO:0014071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014071",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11",
            "description": ""
        },
        {
            "id": "MONDO:0014071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014071",
            "name": "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2",
            "description": ""
        },
        {
            "id": "MONDO:0014071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014071",
            "name": "MDDGA11",
            "description": ""
        },
        {
            "id": "MIM:615181",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615181",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111230"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111230",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111230",
            "categories": []
        },
        {
            "id": "MONDO:0014071",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014071",
            "categories": []
        },
        {
            "id": "MIM:615181",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615181",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q502B3-1",
            "uniprot_ac": "Q502B3",
            "uniprot_id": "B3GL2_DANRE",
            "refseq_ac": "NP_001018523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.313",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-GalNAc-T2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-N-acetylgalactosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-GalNAc-T2",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-N-acetylgalactosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "beta-3-GalNAc-T2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "b3galnt2",
                    "type": "recommended"
                },
                {
                    "name": "b3galnt2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112351",
                    "type": "synonym"
                }
            ],
            "record_id": "Q502B3-1",
            "evidence": [
                {
                    "id": "0111230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BG28-1",
            "uniprot_ac": "Q8BG28",
            "uniprot_id": "B3GL2_MOUSE",
            "refseq_ac": "NP_848755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.313",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-GalNAc-T2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-N-acetylgalactosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-GalNAc-T2",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-N-acetylgalactosaminyltransferase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3galnt2",
                    "type": "recommended"
                },
                {
                    "name": "A930105D20Rik",
                    "type": "synonym"
                },
                {
                    "name": "B3galnt2",
                    "type": "synonym"
                },
                {
                    "name": "D230016N13Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BG28-1",
            "evidence": [
                {
                    "id": "0111230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NCR0-1",
            "uniprot_ac": "Q8NCR0",
            "uniprot_id": "B3GL2_HUMAN",
            "refseq_ac": "NP_001264084",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.313",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-GalNAc-T2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-N-acetylgalactosaminyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-1,3-GalNAc-T2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3GALNT2",
                    "type": "recommended"
                },
                {
                    "name": "B3GALNT2",
                    "type": "synonym"
                },
                {
                    "name": "B3GalNAc-T2",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NCR0-1",
            "evidence": [
                {
                    "id": "0014071",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014071"
                },
                {
                    "id": "615181",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615181"
                },
                {
                    "id": "B3GALNT2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B3GALNT2/#!details"
                },
                {
                    "id": "0111230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z9C4-1",
            "uniprot_ac": "D3Z9C4",
            "uniprot_id": "D3Z9C4_RAT",
            "refseq_ac": "NP_001138323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B3galnt2",
                    "type": "recommended"
                },
                {
                    "name": "B3galnt2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306946",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z9C4-1",
            "evidence": [
                {
                    "id": "0111230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111230"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111230"
}