{
    "disease_id": "DOID:0111242",
    "recommended_name": {
        "id": "DOID:0111242",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111242",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A6",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111242",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related",
            "description": ""
        },
        {
            "id": "DOID:0111242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111242",
            "name": "MDDGA6",
            "description": ""
        },
        {
            "id": "DOID:0111242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111242",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6",
            "description": ""
        },
        {
            "id": "MONDO:0013158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013158",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6",
            "description": "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
        },
        {
            "id": "MONDO:0013158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013158",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013158",
            "name": "MDDGA6",
            "description": ""
        },
        {
            "id": "MONDO:0013158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013158",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6",
            "description": ""
        },
        {
            "id": "MIM:613154",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613154",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111242"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111242",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111242",
            "categories": []
        },
        {
            "id": "MONDO:0013158",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013158",
            "categories": []
        },
        {
            "id": "MIM:613154",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613154",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0111242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111242"
                }
            ]
        },
        {
            "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": "0111242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111242"
                }
            ]
        },
        {
            "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": "613154",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613154"
                },
                {
                    "id": "LARGE1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/LARGE1/#!details"
                },
                {
                    "id": "0111242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111242"
                }
            ]
        },
        {
            "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": "0111242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111242"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111242"
}