{
    "disease_id": "DOID:0110277",
    "recommended_name": {
        "id": "DOID:0110277",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110277",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2C",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "autosomal recessive Duchenne-like muscular dystrophy type 1",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "severe childhood autosomal recessive muscular dystrophy North African type",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "DMDA1",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "LGMD2C",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "Maghrebian myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "SCARMD",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "deficiency of sarcoglycan gamma",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "gamma-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "muscular dystrophy, limb-girdle, type 2C",
            "description": ""
        },
        {
            "id": "DOID:0110277",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "name": "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2C",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported."
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "DMDA1",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "LGMD2C",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "Maghrebian myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "SCARMD",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "SGCG autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "gamma-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "muscular dystrophy, limb-girdle, type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "name": "limb-girdle muscular dystrophy, type 2C",
            "description": ""
        },
        {
            "id": "MIM:253700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253700",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 5",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110277"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110277",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110277",
            "categories": []
        },
        {
            "id": "MONDO:0009677",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009677",
            "categories": []
        },
        {
            "id": "MIM:253700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q504-1",
            "uniprot_ac": "F1Q504",
            "uniprot_id": "F1Q504_DANRE",
            "refseq_ac": "NP_001003748",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "gamma-sarcoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sgcg",
                    "type": "recommended"
                },
                {
                    "name": "sgcg",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100924",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q504-1",
            "evidence": [
                {
                    "id": "0110277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82348-1",
            "uniprot_ac": "P82348",
            "uniprot_id": "SGCG_MOUSE",
            "refseq_ac": "NP_036022",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "35 kDa dystrophin-associated glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "35DAG",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-SG",
                    "type": "synonym"
                },
                {
                    "name": "gamma-sarcoglycan",
                    "type": "synonym"
                },
                {
                    "name": "sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sgcg",
                    "type": "recommended"
                },
                {
                    "name": "35kDa",
                    "type": "synonym"
                },
                {
                    "name": "5430420E18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sgcg",
                    "type": "synonym"
                },
                {
                    "name": "gamma-SG",
                    "type": "synonym"
                }
            ],
            "record_id": "P82348-1",
            "evidence": [
                {
                    "id": "0110277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13326-1",
            "uniprot_ac": "Q13326",
            "uniprot_id": "SGCG_HUMAN",
            "refseq_ac": "NP_000222",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "35 kDa dystrophin-associated glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "35DAG",
                    "type": "synonym"
                },
                {
                    "name": "35kD dystrophin-associated glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-SG",
                    "type": "synonym"
                },
                {
                    "name": "gamma-sarcoglycan isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-sarcoglycan",
                    "type": "synonym"
                },
                {
                    "name": "sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SGCG",
                    "type": "recommended"
                },
                {
                    "name": "35DAG",
                    "type": "synonym"
                },
                {
                    "name": "A4",
                    "type": "synonym"
                },
                {
                    "name": "DAGA4",
                    "type": "synonym"
                },
                {
                    "name": "DMDA1",
                    "type": "synonym"
                },
                {
                    "name": "DMDA",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2C",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR5",
                    "type": "synonym"
                },
                {
                    "name": "MAM",
                    "type": "synonym"
                },
                {
                    "name": "SCARMD2",
                    "type": "synonym"
                },
                {
                    "name": "SGCG",
                    "type": "synonym"
                },
                {
                    "name": "gamma-SG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13326-1",
            "evidence": [
                {
                    "id": "253700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/253700"
                },
                {
                    "id": "0110277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110277"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76892-1",
            "uniprot_ac": "O76892",
            "uniprot_id": "O76892_DROME",
            "refseq_ac": "NP_001162639",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14808-PE",
                    "type": "synonym"
                },
                {
                    "name": "Sarcoglycan delta, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Sarcoglycan delta, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Sarcoglycan delta, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Sarcoglycan delta, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Scgdelta-PE",
                    "type": "synonym"
                },
                {
                    "name": "delta-sarcoglycan",
                    "type": "synonym"
                },
                {
                    "name": "sarcoglycan delta, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "sarcoglycan-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scgdelta",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH21860",
                    "type": "synonym"
                },
                {
                    "name": "CG14808",
                    "type": "synonym"
                },
                {
                    "name": "CT34621",
                    "type": "synonym"
                },
                {
                    "name": "DmSCG-gammadelta",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14808",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14808",
                    "type": "synonym"
                },
                {
                    "name": "EG:4F1.1",
                    "type": "synonym"
                },
                {
                    "name": "GH21860",
                    "type": "synonym"
                },
                {
                    "name": "Scg-delta",
                    "type": "synonym"
                },
                {
                    "name": "Scgdelta",
                    "type": "synonym"
                },
                {
                    "name": "Sgcd",
                    "type": "synonym"
                }
            ],
            "record_id": "O76892-1",
            "evidence": [
                {
                    "id": "0110277",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110277"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110277"
}