{
    "disease_id": "DOID:0051045",
    "recommended_name": {
        "id": "DOID:0051045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051045",
        "name": "myofibrillar myopathy 13 with rimmed vacuoles",
        "description": "A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "myopathy, myofibrillar, 13, with rimmed vacuoles",
            "description": "A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles."
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "HSPB8-associated autosomal dominant rimmed vacuolar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "MFM13",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "limb-girdle rimmed vacuolar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "rimmed vacuoles myopathy",
            "description": ""
        },
        {
            "id": "MIM:621078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621078",
            "name": "Myopathy, myofibrillar, 13, with rimmed vacuoles",
            "description": "Myopathy, myofibrillar, 13, with rimmed vacuoles"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051045"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051045",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051045",
            "categories": []
        },
        {
            "id": "MONDO:0976133",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "categories": []
        },
        {
            "id": "MIM:621078",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621078",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JK92-1",
            "uniprot_ac": "Q9JK92",
            "uniprot_id": "HSPB8_MOUSE",
            "refseq_ac": "NP_109629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-8",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "HspB8",
                    "type": "synonym"
                },
                {
                    "name": "Small stress protein-like protein HSP22",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, alpha C",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 20-like protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-8",
                    "type": "synonym"
                },
                {
                    "name": "small stress protein-like protein HSP22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb8",
                    "type": "recommended"
                },
                {
                    "name": "Cryac",
                    "type": "synonym"
                },
                {
                    "name": "D5Ucla4",
                    "type": "synonym"
                },
                {
                    "name": "E2IG1",
                    "type": "synonym"
                },
                {
                    "name": "H11K",
                    "type": "synonym"
                },
                {
                    "name": "H11",
                    "type": "synonym"
                },
                {
                    "name": "HSP20-like",
                    "type": "synonym"
                },
                {
                    "name": "HSP22",
                    "type": "synonym"
                },
                {
                    "name": "Hsp22",
                    "type": "synonym"
                },
                {
                    "name": "Hspb8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK92-1",
            "evidence": [
                {
                    "id": "0051045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJY1-1",
            "uniprot_ac": "Q9UJY1",
            "uniprot_id": "HSPB8_HUMAN",
            "refseq_ac": "NP_055180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-8",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "E2-induced gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family B member 8",
                    "type": "synonym"
                },
                {
                    "name": "HspB8",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase H11",
                    "type": "synonym"
                },
                {
                    "name": "Small stress protein-like protein HSP22",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 22kDa protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 27kDa protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family B member 8",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase H11",
                    "type": "synonym"
                },
                {
                    "name": "small stress protein-like protein HSP22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSPB8",
                    "type": "recommended"
                },
                {
                    "name": "CMT2L",
                    "type": "synonym"
                },
                {
                    "name": "CRYAC",
                    "type": "synonym"
                },
                {
                    "name": "DHMN2",
                    "type": "synonym"
                },
                {
                    "name": "E2IG1",
                    "type": "synonym"
                },
                {
                    "name": "H11",
                    "type": "synonym"
                },
                {
                    "name": "HMN2A",
                    "type": "synonym"
                },
                {
                    "name": "HMN2",
                    "type": "synonym"
                },
                {
                    "name": "HMND2",
                    "type": "synonym"
                },
                {
                    "name": "HSP22",
                    "type": "synonym"
                },
                {
                    "name": "HSPB8-N1",
                    "type": "synonym"
                },
                {
                    "name": "HSPB8-N2",
                    "type": "synonym"
                },
                {
                    "name": "HSPB8",
                    "type": "synonym"
                },
                {
                    "name": "MFM13",
                    "type": "synonym"
                },
                {
                    "name": "PP1629",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJY1-1",
            "evidence": [
                {
                    "id": "621078",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621078"
                },
                {
                    "id": "0051045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPX0-1",
            "uniprot_ac": "Q9EPX0",
            "uniprot_id": "HSPB8_RAT",
            "refseq_ac": "NP_446064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein beta-8",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "HspB8",
                    "type": "synonym"
                },
                {
                    "name": "Small stress protein-like protein HSP22",
                    "type": "synonym"
                },
                {
                    "name": "alpha-crystallin C chain",
                    "type": "synonym"
                },
                {
                    "name": "crystallin, alpha C",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 22kDa protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein B8",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein beta-8",
                    "type": "synonym"
                },
                {
                    "name": "small stress protein-like protein HSP22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspb8",
                    "type": "recommended"
                },
                {
                    "name": "Cryac",
                    "type": "synonym"
                },
                {
                    "name": "Hsp22",
                    "type": "synonym"
                },
                {
                    "name": "Hspb8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPX0-1",
            "evidence": [
                {
                    "id": "0051045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82147-1",
            "uniprot_ac": "P82147",
            "uniprot_id": "L2EFL_DROME",
            "refseq_ac": "NP_001261156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein lethal(2)essential for life",
                    "type": "recommended"
                },
                {
                    "name": "CG4533-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein Efl21",
                    "type": "synonym"
                },
                {
                    "name": "l(2)efl-PC",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) essential for life, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) essential for life",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)essential for life",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(2)efl",
                    "type": "recommended"
                },
                {
                    "name": "CG4533",
                    "type": "synonym"
                },
                {
                    "name": "CryAB",
                    "type": "synonym"
                },
                {
                    "name": "Cryab",
                    "type": "synonym"
                },
                {
                    "name": "Dmel19.8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4533",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4533",
                    "type": "synonym"
                },
                {
                    "name": "L(2)EFL",
                    "type": "synonym"
                },
                {
                    "name": "L(2)efl",
                    "type": "synonym"
                },
                {
                    "name": "dCRYAB",
                    "type": "synonym"
                },
                {
                    "name": "dCryAB",
                    "type": "synonym"
                },
                {
                    "name": "el(2)13-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)13-1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)59Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)Efl",
                    "type": "synonym"
                },
                {
                    "name": "l(2)efl",
                    "type": "synonym"
                }
            ],
            "record_id": "P82147-1",
            "evidence": [
                {
                    "id": "0051045",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051045"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051045"
}