{
    "disease_id": "DOID:0110288",
    "recommended_name": {
        "id": "DOID:0110288",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110288",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2W",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110288",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110288",
            "name": "LGMD2W",
            "description": ""
        },
        {
            "id": "DOID:0110288",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110288",
            "name": "muscular dystrophy, limb-girdle, type 2W",
            "description": ""
        },
        {
            "id": "MONDO:0014788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2W",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration."
        },
        {
            "id": "MONDO:0014788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "name": "LGMD2W",
            "description": ""
        },
        {
            "id": "MONDO:0014788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "name": "LIMS2 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2",
            "description": ""
        },
        {
            "id": "MONDO:0014788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "name": "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue",
            "description": ""
        },
        {
            "id": "MONDO:0014788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "name": "muscular dystrophy, limb-girdle, type 2W",
            "description": ""
        },
        {
            "id": "MONDO:0014788",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "name": "muscular dystrophy, limb-girdle, type 2w",
            "description": ""
        },
        {
            "id": "MIM:616827",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616827",
            "name": "Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue",
            "description": "Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110288"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110288",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110288",
            "categories": []
        },
        {
            "id": "MONDO:0014788",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014788",
            "categories": []
        },
        {
            "id": "MIM:616827",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616827",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N667-1",
            "uniprot_ac": "A0A8M1N667",
            "uniprot_id": "A0A8M1N667_DANRE",
            "refseq_ac": "NP_001018506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "pinch2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lims2",
                    "type": "recommended"
                },
                {
                    "name": "CH1073-55A19.1",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh0381",
                    "type": "synonym"
                },
                {
                    "name": "lims2",
                    "type": "synonym"
                },
                {
                    "name": "zeh0381",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112257",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N667-1",
            "evidence": [
                {
                    "id": "0110288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91XD2-1",
            "uniprot_ac": "Q91XD2",
            "uniprot_id": "LIMS2_MOUSE",
            "refseq_ac": "NP_659111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PINCH-2",
                    "type": "synonym"
                },
                {
                    "name": "Particularly interesting new Cys-His protein 2",
                    "type": "synonym"
                },
                {
                    "name": "particularly interesting new Cys-His protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lims2",
                    "type": "recommended"
                },
                {
                    "name": "Lims2",
                    "type": "synonym"
                },
                {
                    "name": "PINCH2",
                    "type": "synonym"
                },
                {
                    "name": "Pinch2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XD2-1",
            "evidence": [
                {
                    "id": "0110288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z4I7-1",
            "uniprot_ac": "Q7Z4I7",
            "uniprot_id": "LIMS2_HUMAN",
            "refseq_ac": "NP_001129509",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ILK-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "LIM and senescent cell antigen-like domains 2",
                    "type": "synonym"
                },
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "LIM-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "LIM-type zinc finger domains 2",
                    "type": "synonym"
                },
                {
                    "name": "PINCH-2",
                    "type": "synonym"
                },
                {
                    "name": "Particularly interesting new Cys-His protein 2",
                    "type": "synonym"
                },
                {
                    "name": "particularly interesting new Cys-His protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIMS2",
                    "type": "recommended"
                },
                {
                    "name": "LGMD2W",
                    "type": "synonym"
                },
                {
                    "name": "LIMS2",
                    "type": "synonym"
                },
                {
                    "name": "MDRCMTT",
                    "type": "synonym"
                },
                {
                    "name": "PINCH-2",
                    "type": "synonym"
                },
                {
                    "name": "PINCH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z4I7-1",
            "evidence": [
                {
                    "id": "616827",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616827"
                },
                {
                    "id": "0110288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GK29-1",
            "uniprot_ac": "A0A8I6GK29",
            "uniprot_id": "A0A8I6GK29_RAT",
            "refseq_ac": "NP_001012163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein",
                    "type": "recommended"
                },
                {
                    "name": "LIM and senescent cell antigen like domains 2",
                    "type": "synonym"
                },
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "LIM and senescent cell antigen-like-containing domain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "LIM-type zinc finger domains 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lims2",
                    "type": "recommended"
                },
                {
                    "name": "Lims2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GK29-1",
            "evidence": [
                {
                    "id": "0110288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INQ9-1",
            "uniprot_ac": "Q8INQ9",
            "uniprot_id": "Q8INQ9_DROME",
            "refseq_ac": "NP_731242",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LIM domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7954-PC",
                    "type": "synonym"
                },
                {
                    "name": "PINCH",
                    "type": "synonym"
                },
                {
                    "name": "d-pinch",
                    "type": "synonym"
                },
                {
                    "name": "stck-PC",
                    "type": "synonym"
                },
                {
                    "name": "steamer duck, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "steamer duck",
                    "type": "synonym"
                },
                {
                    "name": "steamerduck",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stck",
                    "type": "recommended"
                },
                {
                    "name": "CG7954",
                    "type": "synonym"
                },
                {
                    "name": "D-PINCH",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7954",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7954",
                    "type": "synonym"
                },
                {
                    "name": "PINCH",
                    "type": "synonym"
                },
                {
                    "name": "Pinch",
                    "type": "synonym"
                },
                {
                    "name": "Stck",
                    "type": "synonym"
                },
                {
                    "name": "dPINCH",
                    "type": "synonym"
                },
                {
                    "name": "dpin",
                    "type": "synonym"
                },
                {
                    "name": "pin85A",
                    "type": "synonym"
                },
                {
                    "name": "pinch",
                    "type": "synonym"
                },
                {
                    "name": "stck",
                    "type": "synonym"
                },
                {
                    "name": "stk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INQ9-1",
            "evidence": [
                {
                    "id": "0110288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110288"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110288"
}