{
    "disease_id": "DOID:0110637",
    "recommended_name": {
        "id": "DOID:0110637",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110637",
        "name": "muscular dystrophy-dystroglycanopathy type B6",
        "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110637",
            "name": "MDC1D",
            "description": ""
        },
        {
            "id": "DOID:0110637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110637",
            "name": "MDDGB6",
            "description": ""
        },
        {
            "id": "DOID:0110637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110637",
            "name": "congenital muscular dystrophy LARGE-related",
            "description": ""
        },
        {
            "id": "DOID:0110637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110637",
            "name": "congenital muscular dystrophy type 1D",
            "description": ""
        },
        {
            "id": "DOID:0110637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110637",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6",
            "description": ""
        },
        {
            "id": "DOID:0110637",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110637",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6",
            "description": ""
        },
        {
            "id": "MONDO:0012138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012138",
            "name": "muscular dystrophy-dystroglycanopathy type B6",
            "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."
        },
        {
            "id": "MONDO:0012138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012138",
            "name": "MDC1D",
            "description": ""
        },
        {
            "id": "MONDO:0012138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012138",
            "name": "MDDGB6",
            "description": ""
        },
        {
            "id": "MONDO:0012138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012138",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6",
            "description": ""
        },
        {
            "id": "MONDO:0012138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012138",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6",
            "description": ""
        },
        {
            "id": "MIM:608840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608840",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110637"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110637",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110637",
            "categories": []
        },
        {
            "id": "MONDO:0012138",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012138",
            "categories": []
        },
        {
            "id": "MIM:608840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608840",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O95461-1",
            "uniprot_ac": "O95461",
            "uniprot_id": "LARG1_HUMAN",
            "refseq_ac": "NP_004728",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "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": "acetylglucosaminyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "glycosyltransferase-like protein LARGE1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyl- and glucuronyltransferase LARGE1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "xylosyl- and glucuronyltransferase LARGE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LARGE1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0609",
                    "type": "synonym"
                },
                {
                    "name": "LARGE1",
                    "type": "synonym"
                },
                {
                    "name": "LARGE",
                    "type": "synonym"
                },
                {
                    "name": "MDC1D",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA6",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB6",
                    "type": "synonym"
                }
            ],
            "record_id": "O95461-1",
            "evidence": [
                {
                    "id": "9215",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/9215#disease"
                },
                {
                    "id": "0012138",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012138"
                },
                {
                    "id": "608840",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608840"
                },
                {
                    "id": "LARGE1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details"
                },
                {
                    "id": "0110637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66PG2-1",
            "uniprot_ac": "Q66PG2",
            "uniprot_id": "LARG1_DANRE",
            "refseq_ac": "NP_001004537",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q66PG2-1",
            "evidence": [
                {
                    "id": "0110637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1M7-1",
            "uniprot_ac": "Q9Z1M7",
            "uniprot_id": "LARG1_MOUSE",
            "refseq_ac": "NP_001304320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "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 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"
                }
            ],
            "gene_names": [
                {
                    "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": "0110637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110637"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K618-1",
            "uniprot_ac": "A0A0G2K618",
            "uniprot_id": "A0A0G2K618_RAT",
            "refseq_ac": "NP_001416095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LARGE xylosyl- and glucuronyltransferase 1",
                    "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"
                }
            ],
            "record_id": "A0A0G2K618-1",
            "evidence": [
                {
                    "id": "0110637",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110637"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110637"
}