{
    "disease_id": "DOID:0080762",
    "recommended_name": {
        "id": "DOID:0080762",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080762",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080762",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080762",
            "name": "limb-girdle muscular dystrophy 21",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2R1",
            "description": "An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of inside-to-outside fatty degeneration on muscle imaging has been noted in patients."
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "LGMD2Z",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "POGLUT1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "limb-girdle muscular dystrophy type 2Z",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 21",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "muscular dystrophy, limb-girdle, type 2Z",
            "description": ""
        },
        {
            "id": "MIM:617232",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617232",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 21",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080762"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080762",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080762",
            "categories": []
        },
        {
            "id": "MONDO:0014977",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "categories": []
        },
        {
            "id": "MIM:617232",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617232",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BYB9-1",
            "uniprot_ac": "Q8BYB9",
            "uniprot_id": "PGLT1_MOUSE",
            "refseq_ac": "NP_759012",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-glucosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.376",
                    "type": "synonym"
                },
                {
                    "name": "2.4.2.63",
                    "type": "synonym"
                },
                {
                    "name": "CAP10-like 46 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "KTEL (Lys-Tyr-Glu-Leu) containing 1",
                    "type": "synonym"
                },
                {
                    "name": "KTEL motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "O-glucosyltransferase Rumi homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein O-xylosyltransferase POGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "Rumi",
                    "type": "synonym"
                },
                {
                    "name": "Wing-shaped neural plate protein",
                    "type": "synonym"
                },
                {
                    "name": "Wsnp",
                    "type": "synonym"
                },
                {
                    "name": "protein O-glucosyltransferase 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein O-xylosyltransferase POGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "wing-shaped neural plate protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Poglut1",
                    "type": "recommended"
                },
                {
                    "name": "9630046K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Clp46",
                    "type": "synonym"
                },
                {
                    "name": "Ktelc1",
                    "type": "synonym"
                },
                {
                    "name": "Poglut1",
                    "type": "synonym"
                },
                {
                    "name": "Rumi",
                    "type": "synonym"
                },
                {
                    "name": "wsnp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYB9-1",
            "evidence": [
                {
                    "id": "0080762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NBL1-1",
            "uniprot_ac": "Q8NBL1",
            "uniprot_id": "PGLT1_HUMAN",
            "refseq_ac": "NP_689518",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-glucosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.376",
                    "type": "synonym"
                },
                {
                    "name": "2.4.2.63",
                    "type": "synonym"
                },
                {
                    "name": "9630046K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "CAP10-like 46 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "KDELC family like 1",
                    "type": "synonym"
                },
                {
                    "name": "KTEL (Lys-Tyr-Glu-Leu) containing 1",
                    "type": "synonym"
                },
                {
                    "name": "KTEL motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myelodysplastic syndromes relative protein",
                    "type": "synonym"
                },
                {
                    "name": "O-glucosyltransferase Rumi homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein O-xylosyltransferase POGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "hCLP46",
                    "type": "synonym"
                },
                {
                    "name": "hRumi",
                    "type": "synonym"
                },
                {
                    "name": "myelodysplastic syndromes relative protein",
                    "type": "synonym"
                },
                {
                    "name": "protein O-glucosyltransferase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein O-xylosyltransferase POGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "x 010 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POGLUT1",
                    "type": "recommended"
                },
                {
                    "name": "C3orf9",
                    "type": "synonym"
                },
                {
                    "name": "CLP46",
                    "type": "synonym"
                },
                {
                    "name": "KDELCL1",
                    "type": "synonym"
                },
                {
                    "name": "KTELC1",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2Z",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR21",
                    "type": "synonym"
                },
                {
                    "name": "MDS010",
                    "type": "synonym"
                },
                {
                    "name": "MDSRP",
                    "type": "synonym"
                },
                {
                    "name": "POGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "PRO1006",
                    "type": "synonym"
                },
                {
                    "name": "Rumi",
                    "type": "synonym"
                },
                {
                    "name": "hCLP46",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NBL1-1",
            "evidence": [
                {
                    "id": "617232",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617232"
                },
                {
                    "id": "0080762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9D0-1",
            "uniprot_ac": "G3V9D0",
            "uniprot_id": "PGLT1_RAT",
            "refseq_ac": "NP_001094122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-glucosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.376",
                    "type": "synonym"
                },
                {
                    "name": "2.4.2.63",
                    "type": "synonym"
                },
                {
                    "name": "KTEL (Lys-Tyr-Glu-Leu) containing 1",
                    "type": "synonym"
                },
                {
                    "name": "O-glucosyltransferase Rumi homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein O-xylosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "protein O-glucosyltransferase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein O-xylosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Poglut1",
                    "type": "recommended"
                },
                {
                    "name": "Ktelc1",
                    "type": "synonym"
                },
                {
                    "name": "Poglut1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306248",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V9D0-1",
            "evidence": [
                {
                    "id": "0080762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCU4-1",
            "uniprot_ac": "Q9VCU4",
            "uniprot_id": "Q9VCU4_DROME",
            "refseq_ac": "NP_732797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycosyl transferase CAP10 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31139-PA",
                    "type": "synonym"
                },
                {
                    "name": "partner of rumi",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG17138",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG31139",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT07872",
                    "type": "synonym"
                },
                {
                    "name": "CG17138",
                    "type": "synonym"
                },
                {
                    "name": "CG31139",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31139",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31139",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCU4-1",
            "evidence": [
                {
                    "id": "0080762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080762"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T045-1",
            "uniprot_ac": "Q8T045",
            "uniprot_id": "RUMI_DROME",
            "refseq_ac": "NP_651095",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "O-glucosyltransferase rumi",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG31152-PA",
                    "type": "synonym"
                },
                {
                    "name": "rumi, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "rumi-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rumi",
                    "type": "recommended"
                },
                {
                    "name": "CG17138",
                    "type": "synonym"
                },
                {
                    "name": "CG31152",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31152",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31152",
                    "type": "synonym"
                },
                {
                    "name": "Poglut1",
                    "type": "synonym"
                },
                {
                    "name": "Rumi",
                    "type": "synonym"
                },
                {
                    "name": "dRumi",
                    "type": "synonym"
                },
                {
                    "name": "rumi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T045-1",
            "evidence": [
                {
                    "id": "0080762",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080762"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080762"
}