{
    "disease_id": "DOID:0110281",
    "recommended_name": {
        "id": "DOID:0110281",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110281",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2G",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)."
    },
    "synonyms": [
        {
            "id": "DOID:0110281",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110281",
            "name": "LGMD2G",
            "description": ""
        },
        {
            "id": "DOID:0110281",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110281",
            "name": "muscular dystrophy, limb-girdle, type 2G",
            "description": ""
        },
        {
            "id": "DOID:0110281",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110281",
            "name": "limb-girdle muscular dystrophy due to telethonin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2G",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed."
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "LGMD2G",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "TCAP autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "Tcap autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "limb-girdle muscular dystrophy due to telethonin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 7",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "muscular dystrophy, limb-girdle, type 2G",
            "description": ""
        },
        {
            "id": "MONDO:0011170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "name": "limb-girdle muscular dystrophy, type 2G",
            "description": ""
        },
        {
            "id": "MIM:601954",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601954",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 7",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110281"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110281",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110281",
            "categories": []
        },
        {
            "id": "MONDO:0011170",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011170",
            "categories": []
        },
        {
            "id": "MIM:601954",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601954",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P8J3-1",
            "uniprot_ac": "A0A8M9P8J3",
            "uniprot_id": "A0A8M9P8J3_DANRE",
            "refseq_ac": "XP_068070335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "telethonin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zmp:0000000930",
                    "type": "recommended"
                },
                {
                    "name": "zmp:0000000930",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P8J3-1",
            "evidence": [
                {
                    "id": "0110281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9QCX4-1",
            "uniprot_ac": "E9QCX4",
            "uniprot_id": "E9QCX4_DANRE",
            "refseq_ac": "NP_001292500",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tcap",
                    "type": "recommended"
                },
                {
                    "name": "tcap",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QCX4-1",
            "evidence": [
                {
                    "id": "0110281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70548-1",
            "uniprot_ac": "O70548",
            "uniprot_id": "TELT_MOUSE",
            "refseq_ac": "NP_035670",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin",
                    "type": "recommended"
                },
                {
                    "name": "Titin cap protein",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                },
                {
                    "name": "titin cap protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcap",
                    "type": "recommended"
                },
                {
                    "name": "Tcap",
                    "type": "synonym"
                }
            ],
            "record_id": "O70548-1",
            "evidence": [
                {
                    "id": "0110281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15273-1",
            "uniprot_ac": "O15273",
            "uniprot_id": "TELT_HUMAN",
            "refseq_ac": "NP_003664",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin",
                    "type": "recommended"
                },
                {
                    "name": "19 kDa sarcomeric protein",
                    "type": "synonym"
                },
                {
                    "name": "Titin cap protein",
                    "type": "synonym"
                },
                {
                    "name": "limb girdle muscular dystrophy 2G (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                },
                {
                    "name": "teneurin C-terminal associated peptide",
                    "type": "synonym"
                },
                {
                    "name": "titin cap protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCAP",
                    "type": "recommended"
                },
                {
                    "name": "CMD1N",
                    "type": "synonym"
                },
                {
                    "name": "CMH25",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2G",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR7",
                    "type": "synonym"
                },
                {
                    "name": "T-cap",
                    "type": "synonym"
                },
                {
                    "name": "TCAP",
                    "type": "synonym"
                },
                {
                    "name": "TELE",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                }
            ],
            "record_id": "O15273-1",
            "evidence": [
                {
                    "id": "601954",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601954"
                },
                {
                    "id": "0110281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LAZ2-1",
            "uniprot_ac": "A0ABK0LAZ2",
            "uniprot_id": "A0ABK0LAZ2_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": "Telethonin",
                    "type": "recommended"
                },
                {
                    "name": "Titin cap protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcap",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LAZ2-1",
            "evidence": [
                {
                    "id": "0110281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110281"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110281"
}