{
    "disease_id": "DOID:0110289",
    "recommended_name": {
        "id": "DOID:0110289",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110289",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2Y",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110289",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110289",
            "name": "LGMD2Y",
            "description": ""
        },
        {
            "id": "DOID:0110289",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110289",
            "name": "muscular dystrophy, limb-girdle, type 2Y",
            "description": ""
        },
        {
            "id": "DOID:0110289",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110289",
            "name": "autosomal recessive muscular dystrophy due to LAP1B deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110289",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110289",
            "name": "muscular dystrophy with progressive weakness, distal contractures and rigid spine",
            "description": ""
        },
        {
            "id": "DOID:0110289",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110289",
            "name": "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2Y",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy."
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "LGMD2Y",
            "description": ""
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1",
            "description": ""
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "autosomal recessive muscular dystrophy due to LAP1B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "muscular dystrophy with progressive weakness, distal contractures and rigid spine",
            "description": ""
        },
        {
            "id": "MONDO:0014900",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "name": "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures",
            "description": ""
        },
        {
            "id": "MIM:617072",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617072",
            "name": "Myopathy, autosomal recessive, with rigid spine and distal joint contractures",
            "description": "Myopathy, autosomal recessive, with rigid spine and distal joint contractures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110289"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110289",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110289",
            "categories": []
        },
        {
            "id": "MONDO:0014900",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014900",
            "categories": []
        },
        {
            "id": "MIM:617072",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617072",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q921T2-1",
            "uniprot_ac": "Q921T2",
            "uniprot_id": "TOIP1_MOUSE",
            "refseq_ac": "NP_001153490",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1A-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "LAP1B",
                    "type": "synonym"
                },
                {
                    "name": "Lamina-associated polypeptide 1B",
                    "type": "synonym"
                },
                {
                    "name": "lamina-associated polypeptide 1B",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A-interacting protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tor1aip1",
                    "type": "recommended"
                },
                {
                    "name": "LAP1",
                    "type": "synonym"
                },
                {
                    "name": "Lap1B",
                    "type": "synonym"
                },
                {
                    "name": "Tor1aip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921T2-1",
            "evidence": [
                {
                    "id": "0110289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JTV8-1",
            "uniprot_ac": "Q5JTV8",
            "uniprot_id": "TOIP1_HUMAN",
            "refseq_ac": "NP_001254507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1A-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "LAP1B",
                    "type": "synonym"
                },
                {
                    "name": "Lamin-associated protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "lamin-associated protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "lamina-associated polypeptide 1B",
                    "type": "synonym"
                },
                {
                    "name": "torsin A interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A-interacting protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOR1AIP1",
                    "type": "recommended"
                },
                {
                    "name": "LAP1B",
                    "type": "synonym"
                },
                {
                    "name": "LAP1C",
                    "type": "synonym"
                },
                {
                    "name": "LAP1",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2Y",
                    "type": "synonym"
                },
                {
                    "name": "TOR1AIP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JTV8-1",
            "evidence": [
                {
                    "id": "617072",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617072"
                },
                {
                    "id": "0110289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQX1-1",
            "uniprot_ac": "Q5PQX1",
            "uniprot_id": "TOIP1_RAT",
            "refseq_ac": "NP_659560",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1A-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "LAP1B",
                    "type": "synonym"
                },
                {
                    "name": "LAP1C",
                    "type": "synonym"
                },
                {
                    "name": "Lamina-associated polypeptide 1B",
                    "type": "synonym"
                },
                {
                    "name": "Lamina-associated polypeptide 1C",
                    "type": "synonym"
                },
                {
                    "name": "lamina-associated polypeptide 1B",
                    "type": "synonym"
                },
                {
                    "name": "lamina-associated polypeptide 1C",
                    "type": "synonym"
                },
                {
                    "name": "torsin A interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tor1aip1",
                    "type": "recommended"
                },
                {
                    "name": "Lap1b",
                    "type": "synonym"
                },
                {
                    "name": "Lap1c",
                    "type": "synonym"
                },
                {
                    "name": "Tor1aip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQX1-1",
            "evidence": [
                {
                    "id": "0110289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW40-1",
            "uniprot_ac": "Q9VW40",
            "uniprot_id": "Q9VW40_DROME",
            "refseq_ac": "NP_001262065",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14103-PB",
                    "type": "synonym"
                },
                {
                    "name": "TORIP-PB",
                    "type": "synonym"
                },
                {
                    "name": "Torsin interacting protein, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Torsin interacting protein, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "torsin interacting protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TORIP",
                    "type": "recommended"
                },
                {
                    "name": "CG14103",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14103",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14103",
                    "type": "synonym"
                },
                {
                    "name": "LAP1",
                    "type": "synonym"
                },
                {
                    "name": "TORIP",
                    "type": "synonym"
                },
                {
                    "name": "Torip",
                    "type": "synonym"
                },
                {
                    "name": "dLAP1",
                    "type": "synonym"
                },
                {
                    "name": "dLap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW40-1",
            "evidence": [
                {
                    "id": "0110289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110289"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110289"
}