{
    "disease_id": "DOID:0110274",
    "recommended_name": {
        "id": "DOID:0110274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110274",
        "name": "autosomal recessive limb-girdle muscular dystrophy",
        "description": "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance."
    },
    "synonyms": [
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2A",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy."
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "CAPN3 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "LGMD2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "Leyden-Moebius muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "calpainopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "limb-girdle muscular dystrophy due to calpain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "limb-girdle muscular dystrophy type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "muscular dystrophy, limb-girdle, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "primary calpainopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "LGMD2",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "limb-girdle muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "name": "muscular dystrophy limb girdle type 2A, erb type",
            "description": ""
        },
        {
            "id": "MIM:253600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253600",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 1",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061130",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061131",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061132",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061133",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061134",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 29",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080762",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110275",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110276",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110277",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110278",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110279",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2E",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110280",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2F",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110281",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2G",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110282",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2H",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110283",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2J",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110284",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2L",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110285",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2Q",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110287",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2S",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110288",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2W",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110289",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2Y",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110290",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2X",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110292",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2O",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110293",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2P",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110294",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110295",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2U",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110296",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2M",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110297",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2K",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110298",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2N",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110299",
            "label": "autosomal recessive limb-girdle muscular dystrophy type 2I",
            "link_status": true,
            "children": []
        }
    ],
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    "unlinked_id_list": [],
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            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110274",
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        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "categories": []
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            "url": "https://www.omim.org/entry/253600",
            "categories": []
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            "uniprot_ac": "F1Q8R9",
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                    "id": "0110274",
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                    "name": "E3 ubiquitin-protein ligase TRIM2",
                    "type": "synonym"
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                {
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                {
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                {
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                    "name": "Trim2",
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                {
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                }
            ],
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                    "name": "Snurportin-1",
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                    "name": "CG42303-PA",
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                },
                {
                    "name": "Snup-PA",
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                {
                    "name": "snurportin",
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                }
            ],
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                    "name": "Snup",
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                    "name": "CG1247",
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                    "name": "CG32297",
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                },
                {
                    "name": "CG42303",
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                },
                {
                    "name": "Dmel\\CG42303",
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                },
                {
                    "name": "Snup",
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                },
                {
                    "name": "dSNUP",
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                }
            ],
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                    "id": "0110274",
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                }
            ]
        },
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                }
            ],
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                    "name": "CG31152-PA",
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                    "name": "rumi, isoform A",
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                {
                    "name": "rumi-PA",
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                }
            ],
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                    "name": "CG17138",
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                },
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                    "name": "CG31152",
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                },
                {
                    "name": "Dmel\\CG31152",
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                {
                    "name": "Dmel_CG31152",
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                {
                    "name": "Poglut1",
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                },
                {
                    "name": "Rumi",
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                {
                    "name": "dRumi",
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                },
                {
                    "name": "rumi",
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                }
            ],
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                    "id": "0110274",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZK8-1",
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                }
            ],
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                    "name": "CG15105-PC",
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                    "name": "Thin, isoform C",
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                {
                    "name": "another B-box affiliate",
                    "type": "synonym"
                },
                {
                    "name": "l(2)thin",
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                {
                    "name": "thin, isoform C",
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                {
                    "name": "tn-PC",
                    "type": "synonym"
                }
            ],
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                    "name": "CG15105",
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                {
                    "name": "Dmel\\CG15105",
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                {
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                    "name": "TRIM32",
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                    "name": "Thin",
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                    "name": "Tn",
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                {
                    "name": "abba",
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                {
                    "name": "l(2)tn",
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                {
                    "name": "tn",
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                }
            ],
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                    "id": "0110274",
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                }
            ]
        },
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                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Protein O-glucosyltransferase 1",
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                    "name": "2.4.1.376",
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                },
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                    "name": "2.4.2.63",
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                },
                {
                    "name": "9630046K23Rik",
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                {
                    "name": "CAP10-like 46 kDa protein",
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                {
                    "name": "KDELC family like 1",
                    "type": "synonym"
                },
                {
                    "name": "KTEL (Lys-Tyr-Glu-Leu) containing 1",
                    "type": "synonym"
                },
                {
                    "name": "KTEL motif-containing protein 1",
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                },
                {
                    "name": "Myelodysplastic syndromes relative protein",
                    "type": "synonym"
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                {
                    "name": "O-glucosyltransferase Rumi homolog",
                    "type": "synonym"
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                {
                    "name": "Protein O-xylosyltransferase POGLUT1",
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                },
                {
                    "name": "hCLP46",
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                {
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                {
                    "name": "myelodysplastic syndromes relative protein",
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                {
                    "name": "protein O-glucosyltransferase 1 precursor",
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                {
                    "name": "protein O-xylosyltransferase POGLUT1",
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                {
                    "name": "x 010 protein",
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                }
            ],
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                {
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                {
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                    "name": "PRO1006",
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                }
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                {
                    "name": "Charcot-Marie-Tooth disease, type 2R",
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                {
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                {
                    "name": "RING finger protein 86",
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                {
                    "name": "KIAA0517",
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                {
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            ],
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                    "id": "0110274",
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                {
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                {
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                {
                    "name": "RING finger protein 97",
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                {
                    "name": "brain expressed ring finger",
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                {
                    "name": "brain-expressed RING finger protein",
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                {
                    "name": "ring finger protein 22",
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                {
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                {
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                {
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                {
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                    "id": "0110274",
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                {
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                }
            ]
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                }
            ],
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                    "name": "Protein O-mannosyl-transferase 2",
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                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 2",
                    "type": "synonym"
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                {
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                    "type": "synonym"
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                {
                    "name": "protein O-mannosyl-transferase 2",
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                {
                    "name": "LGMDR14",
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                {
                    "name": "MDDGA2",
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                {
                    "name": "MDDGB2",
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                },
                {
                    "name": "MDDGC2",
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                {
                    "name": "POMT2",
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                }
            ],
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                    "id": "0110274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110274"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110274"
}