{
    "disease_id": "DOID:0110305",
    "recommended_name": {
        "id": "DOID:0110305",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110305",
        "name": "autosomal dominant limb-girdle muscular dystrophy type 1",
        "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36."
    },
    "synonyms": [
        {
            "id": "DOID:0110305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110305",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1E",
            "description": ""
        },
        {
            "id": "DOID:0110305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110305",
            "name": "muscular dystrophy limb-girdle type 1D",
            "description": ""
        },
        {
            "id": "DOID:0110305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110305",
            "name": "muscular dystrophy limb-girdle type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
            "description": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "DNAJB6 autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1D (DNAJB6)",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1E (Bushby and Beckmann, 2003)",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "limb-girdle muscular dystrophy type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy limb-girdle type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1E",
            "description": ""
        },
        {
            "id": "MIM:603511",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603511",
            "name": "Muscular dystrophy, limb-girdle, autosomal dominant 1",
            "description": "Muscular dystrophy, limb-girdle, autosomal dominant 1"
        }
    ],
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    "id_list": [
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    ],
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    "crossref": [
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            "id": "DOID:0110305",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110305",
            "categories": []
        },
        {
            "id": "MONDO:0021018",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "categories": []
        },
        {
            "id": "MIM:603511",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603511",
            "categories": []
        }
    ],
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                }
            ],
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                }
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                    "name": "dnaJ homolog subfamily B member 1b",
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                    "name": "fd19c10",
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                    "name": "wu:fd19c10",
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                }
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                    "id": "0110305",
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                },
                {
                    "name": "Heat shock protein cognate 40",
                    "type": "synonym"
                },
                {
                    "name": "Hsc40",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock cognate 40",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein Hsp40-2",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein Hsp40-3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJB5",
                    "type": "recommended"
                },
                {
                    "name": "DNAJB5",
                    "type": "synonym"
                },
                {
                    "name": "HSC40",
                    "type": "synonym"
                },
                {
                    "name": "Hsc40",
                    "type": "synonym"
                }
            ],
            "record_id": "O75953-3",
            "evidence": [
                {
                    "id": "0110305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UDY4-1",
            "uniprot_ac": "Q9UDY4",
            "uniprot_id": "DNJB4_HUMAN",
            "refseq_ac": "NP_001304028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 4",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 4",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ-like heat shock protein 40",
                    "type": "synonym"
                },
                {
                    "name": "HSP40 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 40 kDa protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein 40 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Human liver DnaJ-like protein",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 4",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 40 kDa protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 40 homolog",
                    "type": "synonym"
                },
                {
                    "name": "human liver DnaJ-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJB4",
                    "type": "recommended"
                },
                {
                    "name": "CMYO21",
                    "type": "synonym"
                },
                {
                    "name": "CMYP21",
                    "type": "synonym"
                },
                {
                    "name": "DNAJB4",
                    "type": "synonym"
                },
                {
                    "name": "DNAJW",
                    "type": "synonym"
                },
                {
                    "name": "DjB4",
                    "type": "synonym"
                },
                {
                    "name": "HLJ1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UDY4-1",
            "evidence": [
                {
                    "id": "0110305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110305"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110305"
}