{
    "disease_id": "DOID:0110280",
    "recommended_name": {
        "id": "DOID:0110280",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110280",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2F",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD)."
    },
    "synonyms": [
        {
            "id": "DOID:0110280",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110280",
            "name": "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110280",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110280",
            "name": "LGMD2F",
            "description": ""
        },
        {
            "id": "DOID:0110280",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110280",
            "name": "delta-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2F",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal."
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "delta-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "LGMD2F",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "SGCD autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "limb-girdle muscular dystrophy type 2F",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "name": "muscular dystrophy, limb-girdle, type 2F",
            "description": ""
        },
        {
            "id": "MIM:601287",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601287",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 6",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110280"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110280",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110280",
            "categories": []
        },
        {
            "id": "MONDO:0011028",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011028",
            "categories": []
        },
        {
            "id": "MIM:601287",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601287",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AU43-1",
            "uniprot_ac": "A0A8M3AU43",
            "uniprot_id": "A0A8M3AU43_DANRE",
            "refseq_ac": "XP_009293869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-sarcoglycan isoform X4",
                    "type": "synonym"
                },
                {
                    "name": "delta-sarcoglycan isoform X4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sgcd",
                    "type": "recommended"
                },
                {
                    "name": "sgcd",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc49e11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110649",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AU43-1",
            "evidence": [
                {
                    "id": "0110280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82347-1",
            "uniprot_ac": "P82347",
            "uniprot_id": "SGCD_MOUSE",
            "refseq_ac": "NP_036021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "35 kDa dystrophin-associated glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "35DAG",
                    "type": "synonym"
                },
                {
                    "name": "Delta-SG",
                    "type": "synonym"
                },
                {
                    "name": "delta-sarcoglycan",
                    "type": "synonym"
                },
                {
                    "name": "sarcoglycan, delta (35kD dystrophin-associated glycoprotein)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sgcd",
                    "type": "recommended"
                },
                {
                    "name": "35DAG",
                    "type": "synonym"
                },
                {
                    "name": "A530047J11Rik",
                    "type": "synonym"
                },
                {
                    "name": "SG-delta",
                    "type": "synonym"
                },
                {
                    "name": "Sgcd",
                    "type": "synonym"
                },
                {
                    "name": "delta-SG",
                    "type": "synonym"
                }
            ],
            "record_id": "P82347-1",
            "evidence": [
                {
                    "id": "0110280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92629-1",
            "uniprot_ac": "Q92629",
            "uniprot_id": "SGCD_HUMAN",
            "refseq_ac": "NP_000328",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Delta-sarcoglycan",
                    "type": "recommended"
                },
                {
                    "name": "35 kDa dystrophin-associated glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "35DAG",
                    "type": "synonym"
                },
                {
                    "name": "Delta-SG",
                    "type": "synonym"
                },
                {
                    "name": "delta-SG",
                    "type": "synonym"
                },
                {
                    "name": "delta-sarcoglycan isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin associated glycoprotein, delta sarcoglycan",
                    "type": "synonym"
                },
                {
                    "name": "placental delta sarcoglycan",
                    "type": "synonym"
                },
                {
                    "name": "sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SGCD",
                    "type": "recommended"
                },
                {
                    "name": "35DAG",
                    "type": "synonym"
                },
                {
                    "name": "CMD1L",
                    "type": "synonym"
                },
                {
                    "name": "DAGD",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR6",
                    "type": "synonym"
                },
                {
                    "name": "SG-delta",
                    "type": "synonym"
                },
                {
                    "name": "SGCDP",
                    "type": "synonym"
                },
                {
                    "name": "SGCD",
                    "type": "synonym"
                },
                {
                    "name": "SGD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92629-1",
            "evidence": [
                {
                    "id": "601287",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601287"
                },
                {
                    "id": "0110280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LRK7-1",
            "uniprot_ac": "A0ABK0LRK7",
            "uniprot_id": "A0ABK0LRK7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sarcoglycan, delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sgcd",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LRK7-1",
            "evidence": [
                {
                    "id": "0110280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110280"
                }
            ]
        },
        {
            "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": "0110280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110280"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110280"
}