{
    "disease_id": "DOID:0110292",
    "recommended_name": {
        "id": "DOID:0110292",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110292",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related",
            "description": ""
        },
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "LGMD2O",
            "description": ""
        },
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "MDDGC3",
            "description": ""
        },
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "LGMD-POMGNT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "LGMD2O",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "MDDGC3",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "limb-girdle muscular dystrophy type 2O",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
            "description": ""
        },
        {
            "id": "MIM:613157",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613157",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110292"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110292",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "categories": []
        },
        {
            "id": "MONDO:0013161",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "categories": []
        },
        {
            "id": "MIM:613157",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613157",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0110292",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                }
            ]
        },
        {
            "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": "0110292",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                }
            ]
        },
        {
            "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": "613157",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613157"
                },
                {
                    "id": "POMGNT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                },
                {
                    "id": "0110292",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                }
            ]
        },
        {
            "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": "0110292",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110292"
}