{
    "disease_id": "DOID:0111236",
    "recommended_name": {
        "id": "DOID:0111236",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111236",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A3",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111236",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
            "description": ""
        },
        {
            "id": "DOID:0111236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111236",
            "name": "MDDGA3",
            "description": ""
        },
        {
            "id": "DOID:0111236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111236",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
            "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscle-eye-brain-POMGNT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "MDDGA3",
            "description": ""
        },
        {
            "id": "MONDO:0009667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",
            "description": ""
        },
        {
            "id": "MIM:253280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253280",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111236"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111236",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111236",
            "categories": []
        },
        {
            "id": "MONDO:0009667",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009667",
            "categories": []
        },
        {
            "id": "MIM:253280",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253280",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8WZA1-1",
            "uniprot_ac": "Q8WZA1",
            "uniprot_id": "PMGT1_HUMAN",
            "refseq_ac": "NP_001230695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q8WZA1-1",
            "evidence": [
                {
                    "id": "55624",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/55624#disease"
                },
                {
                    "id": "253280",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/253280"
                },
                {
                    "id": "POMGNT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                },
                {
                    "id": "0111236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                }
            ]
        },
        {
            "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": "0111236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                }
            ]
        },
        {
            "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]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomgnt1",
                    "type": "recommended"
                },
                {
                    "name": "0610016I07Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930467B06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pomgnt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X88-1",
            "evidence": [
                {
                    "id": "0111236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIN7-1",
            "uniprot_ac": "Q5XIN7",
            "uniprot_id": "PMGT1_RAT",
            "refseq_ac": "NP_001007748",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "O-linked mannose beta1,2-N-acetylglucosaminyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "POMGnT1",
                    "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": "Pomgnt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIN7-1",
            "evidence": [
                {
                    "id": "0111236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111236"
}