{
    "disease_id": "DOID:0110283",
    "recommended_name": {
        "id": "DOID:0110283",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110283",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2J",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN)."
    },
    "synonyms": [
        {
            "id": "DOID:0110283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110283",
            "name": "LGMD2J",
            "description": ""
        },
        {
            "id": "DOID:0110283",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110283",
            "name": "muscular dystrophy, limb-girdle, type 2J",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2J",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset."
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "LGMD2J",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "TTN autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 10",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "muscular dystrophy, limb-girdle, type 2J",
            "description": ""
        },
        {
            "id": "MONDO:0012127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "name": "limb-girdle muscular dystrophy type 2J",
            "description": ""
        },
        {
            "id": "MIM:608807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608807",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 10",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110283"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110283",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110283",
            "categories": []
        },
        {
            "id": "MONDO:0012127",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012127",
            "categories": []
        },
        {
            "id": "MIM:608807",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608807",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2ASS6-1",
            "uniprot_ac": "A2ASS6",
            "uniprot_id": "TITIN_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Titin",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Connectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttn",
                    "type": "recommended"
                }
            ],
            "record_id": "A2ASS6-1",
            "evidence": [
                {
                    "id": "0110283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WZ42-1",
            "uniprot_ac": "Q8WZ42",
            "uniprot_id": "TITIN_HUMAN",
            "refseq_ac": "NP_001254479",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Titin",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Connectin",
                    "type": "synonym"
                },
                {
                    "name": "Rhabdomyosarcoma antigen MU-RMS-40.14",
                    "type": "synonym"
                },
                {
                    "name": "connectin",
                    "type": "synonym"
                },
                {
                    "name": "rhabdomyosarcoma antigen MU-RMS-40.14",
                    "type": "synonym"
                },
                {
                    "name": "titin isoform IC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTN",
                    "type": "recommended"
                },
                {
                    "name": "CMD1G",
                    "type": "synonym"
                },
                {
                    "name": "CMH9",
                    "type": "synonym"
                },
                {
                    "name": "CMPD4",
                    "type": "synonym"
                },
                {
                    "name": "CMYO5",
                    "type": "synonym"
                },
                {
                    "name": "CMYP5",
                    "type": "synonym"
                },
                {
                    "name": "EOMFC",
                    "type": "synonym"
                },
                {
                    "name": "HMERF",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2J",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR10",
                    "type": "synonym"
                },
                {
                    "name": "MYLK5",
                    "type": "synonym"
                },
                {
                    "name": "SALMY",
                    "type": "synonym"
                },
                {
                    "name": "TMD",
                    "type": "synonym"
                },
                {
                    "name": "TTN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WZ42-1",
            "evidence": [
                {
                    "id": "608807",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608807"
                },
                {
                    "id": "0110283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZUN3-1",
            "uniprot_ac": "A0A8I5ZUN3",
            "uniprot_id": "A0A8I5ZUN3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Titin",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Connectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttn",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZUN3-1",
            "evidence": [
                {
                    "id": "0110283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110283"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D1YSG0-1",
            "uniprot_ac": "D1YSG0",
            "uniprot_id": "D1YSG0_DROME",
            "refseq_ac": "NP_001162825",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Bent, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "C-protein",
                    "type": "synonym"
                },
                {
                    "name": "CG32019-PF",
                    "type": "synonym"
                },
                {
                    "name": "bent, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "bent",
                    "type": "synonym"
                },
                {
                    "name": "bt-PF",
                    "type": "synonym"
                },
                {
                    "name": "lethal(4) Powell, Tennessee-2",
                    "type": "synonym"
                },
                {
                    "name": "myosin LCK",
                    "type": "synonym"
                },
                {
                    "name": "projectin myosin light chain kinase",
                    "type": "synonym"
                },
                {
                    "name": "twitchin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bt",
                    "type": "recommended"
                },
                {
                    "name": "39c-18",
                    "type": "synonym"
                },
                {
                    "name": "Bt",
                    "type": "synonym"
                },
                {
                    "name": "CG10285",
                    "type": "synonym"
                },
                {
                    "name": "CG1479",
                    "type": "synonym"
                },
                {
                    "name": "CG32019",
                    "type": "synonym"
                },
                {
                    "name": "CT3598",
                    "type": "synonym"
                },
                {
                    "name": "CT8086",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32019",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32019",
                    "type": "synonym"
                },
                {
                    "name": "Prj",
                    "type": "synonym"
                },
                {
                    "name": "bt",
                    "type": "synonym"
                },
                {
                    "name": "l(2)23",
                    "type": "synonym"
                },
                {
                    "name": "l(2)2",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102CDa",
                    "type": "synonym"
                },
                {
                    "name": "l(4)21",
                    "type": "synonym"
                },
                {
                    "name": "l(4)23",
                    "type": "synonym"
                },
                {
                    "name": "l(4)2",
                    "type": "synonym"
                },
                {
                    "name": "l(4)37",
                    "type": "synonym"
                },
                {
                    "name": "l(4)38",
                    "type": "synonym"
                },
                {
                    "name": "l(4)PT-2",
                    "type": "synonym"
                },
                {
                    "name": "projectin",
                    "type": "synonym"
                },
                {
                    "name": "titin",
                    "type": "synonym"
                }
            ],
            "record_id": "D1YSG0-1",
            "evidence": [
                {
                    "id": "0110283",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110283"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110283"
}