{
    "disease_id": "DOID:0110275",
    "recommended_name": {
        "id": "DOID:0110275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110275",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2A",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15."
    },
    "synonyms": [
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "limb-girdle muscular dystrophy due to calpain deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "LGMD2A",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "Leyden-Moebius muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "muscular dystrophy, limb-girdle, type 2A",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "pelvofemoral muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "name": "primary calpainopathy",
            "description": ""
        },
        {
            "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_list": [
        "DOID:0110275"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110275",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110275",
            "categories": []
        },
        {
            "id": "MONDO:0009675",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009675",
            "categories": []
        },
        {
            "id": "MIM:253600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QE31-1",
            "uniprot_ac": "E9QE31",
            "uniprot_id": "E9QE31_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calpain-3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.54",
                    "type": "synonym"
                },
                {
                    "name": "calpain-3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "capn3b",
                    "type": "recommended"
                },
                {
                    "name": "capn3b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-12h9.9",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QE31-1",
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                {
                    "id": "0110275",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6Z1H5-1",
            "uniprot_ac": "A0A8M6Z1H5",
            "uniprot_id": "A0A8M6Z1H5_DANRE",
            "refseq_ac": "XP_017207114",
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                {
                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Calpain-3",
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                {
                    "name": "3.4.22.54",
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                },
                {
                    "name": "calpain-3 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "capn3a",
                    "type": "recommended"
                },
                {
                    "name": "capn3a",
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                },
                {
                    "name": "capn3",
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                },
                {
                    "name": "zgc:92687",
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                }
            ],
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                    "id": "0110275",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q64691-1",
            "uniprot_ac": "Q64691",
            "uniprot_id": "CAN3_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Calpain-3",
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                    "name": "3.4.22.54",
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                    "name": "CANP 3",
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                {
                    "name": "Calcium-activated neutral proteinase 3",
                    "type": "synonym"
                },
                {
                    "name": "Calpain L3",
                    "type": "synonym"
                },
                {
                    "name": "Calpain p94",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific calcium-activated neutral protease 3",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated neutral proteinase 3",
                    "type": "synonym"
                },
                {
                    "name": "calpain L3",
                    "type": "synonym"
                },
                {
                    "name": "calpain-3 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific calcium-activated neutral protease 3",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle specific calpain p94",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Capn3",
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                },
                {
                    "name": "Capa-3",
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                },
                {
                    "name": "Capa3",
                    "type": "synonym"
                },
                {
                    "name": "Capn3",
                    "type": "synonym"
                },
                {
                    "name": "Lp82",
                    "type": "synonym"
                },
                {
                    "name": "p94",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110275",
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            ]
        },
        {
            "uniprot_canonical_ac": "P20807-1",
            "uniprot_ac": "P20807",
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            "refseq_ac": "NP_000061",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Calpain-3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.54",
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                {
                    "name": "CANP 3",
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                },
                {
                    "name": "Calcium-activated neutral proteinase 3",
                    "type": "synonym"
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                {
                    "name": "Calpain L3",
                    "type": "synonym"
                },
                {
                    "name": "Calpain p94",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific calcium-activated neutral protease 3",
                    "type": "synonym"
                },
                {
                    "name": "New calpain 1",
                    "type": "synonym"
                },
                {
                    "name": "calpain p94, large [catalytic] subunit",
                    "type": "synonym"
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                {
                    "name": "calpain, large polypeptide L3",
                    "type": "synonym"
                },
                {
                    "name": "calpain-3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific calcium-activated neutral protease 3 large subunit",
                    "type": "synonym"
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                {
                    "name": "nCL-1",
                    "type": "synonym"
                },
                {
                    "name": "new calpain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAPN3",
                    "type": "recommended"
                },
                {
                    "name": "CANP3",
                    "type": "synonym"
                },
                {
                    "name": "CANPL3",
                    "type": "synonym"
                },
                {
                    "name": "CAPN3",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2A",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2",
                    "type": "synonym"
                },
                {
                    "name": "LGMDD4",
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                },
                {
                    "name": "LGMDR1",
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                {
                    "name": "NCL1",
                    "type": "synonym"
                },
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                    "name": "nCL-1",
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                {
                    "name": "p94",
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                }
            ],
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                    "id": "253600",
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                },
                {
                    "id": "0110275",
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                }
            ]
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            "uniprot_canonical_ac": "P16259-1",
            "uniprot_ac": "P16259",
            "uniprot_id": "CAN3_RAT",
            "refseq_ac": "NP_058813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Calpain-3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.54",
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                    "name": "CANP 3",
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                {
                    "name": "Calcium-activated neutral proteinase 3",
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                {
                    "name": "Calpain L3",
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                    "name": "Calpain p94",
                    "type": "synonym"
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                {
                    "name": "Muscle-specific calcium-activated neutral protease 3",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated neutral proteinase 3",
                    "type": "synonym"
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                    "name": "calpain L3",
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                    "name": "calpain p94",
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                    "name": "calpain-3",
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                {
                    "name": "muscle-specific calcium-activated neutral protease 3",
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                    "name": "Capn3",
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                },
                {
                    "name": "Capn3",
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                },
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                    "name": "Lp82",
                    "type": "synonym"
                },
                {
                    "name": "Lp84",
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                },
                {
                    "name": "Lp85",
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                {
                    "name": "p94",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110275",
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            ]
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        {
            "uniprot_canonical_ac": "Q11002-1",
            "uniprot_ac": "Q11002",
            "uniprot_id": "CANA_DROME",
            "refseq_ac": "NP_001097378",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Calpain-A",
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                    "name": "3.4.22.-",
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                {
                    "name": "CG7563-PC",
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                },
                {
                    "name": "Calcium-activated neutral proteinase A",
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                },
                {
                    "name": "CalpA-PC",
                    "type": "synonym"
                },
                {
                    "name": "Calpain-A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "calpain A",
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                },
                {
                    "name": "calpain lacking calmodulin-like domain",
                    "type": "synonym"
                },
                {
                    "name": "calpainA",
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                {
                    "name": "calpain",
                    "type": "synonym"
                }
            ],
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                    "name": "CalpA",
                    "type": "recommended"
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                {
                    "name": "CG18152",
                    "type": "synonym"
                },
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                    "name": "CG7563",
                    "type": "synonym"
                },
                {
                    "name": "CalpA",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7563",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7563",
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                },
                {
                    "name": "EST C",
                    "type": "synonym"
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                {
                    "name": "calpA",
                    "type": "synonym"
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            ],
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                    "id": "0110275",
                    "database": "AGR",
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            "uniprot_canonical_ac": "Q9VT65-1",
            "uniprot_ac": "Q9VT65",
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                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Calpain-B",
                    "type": "recommended"
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                {
                    "name": "3.4.22.-",
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                },
                {
                    "name": "CANP B",
                    "type": "synonym"
                },
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                    "name": "CG8107-PB",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated neutral proteinase B",
                    "type": "synonym"
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                    "name": "CalpB-PB",
                    "type": "synonym"
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                {
                    "name": "Calpain-B, isoform B",
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                {
                    "name": "calpain B",
                    "type": "synonym"
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                {
                    "name": "calpainB",
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                }
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                    "name": "CalpB",
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                    "name": "CALPB",
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                    "name": "CG8107",
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                {
                    "name": "Calp B",
                    "type": "synonym"
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                {
                    "name": "CalpB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8107",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8107",
                    "type": "synonym"
                },
                {
                    "name": "calpB",
                    "type": "synonym"
                }
            ],
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                    "id": "0110275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110275"
                }
            ]
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        {
            "uniprot_canonical_ac": "P10606-1",
            "uniprot_ac": "P10606",
            "uniprot_id": "COX5B_HUMAN",
            "refseq_ac": "NP_001853",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 5B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Vb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VB, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5B, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Vb",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX5B",
                    "type": "recommended"
                },
                {
                    "name": "COX5B",
                    "type": "synonym"
                },
                {
                    "name": "COXVB",
                    "type": "synonym"
                }
            ],
            "record_id": "P10606-1",
            "evidence": [
                {
                    "id": "0110275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110275"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110275"
}