{
    "disease_id": "DOID:0081339",
    "recommended_name": {
        "id": "DOID:0081339",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081339",
        "name": "congenital myopathy 2B",
        "description": "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0081339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081339",
            "name": "autosomal recessive congenital myopathy 2B",
            "description": ""
        },
        {
            "id": "MONDO:0859517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859517",
            "name": "congenital myopathy 2b, severe infantile, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620265",
            "name": "Congenital myopathy 2B, severe infantile, autosomal recessive",
            "description": "Congenital myopathy 2B, severe infantile, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081339"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081339",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081339",
            "categories": []
        },
        {
            "id": "MONDO:0859517",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859517",
            "categories": []
        },
        {
            "id": "MIM:620265",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620265",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TN73-1",
            "uniprot_ac": "A0AB32TN73",
            "uniprot_id": "A0AB32TN73_DANRE",
            "refseq_ac": "XP_068075347",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin alpha 1, skeletal muscle a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "actin alpha 1, skeletal muscle a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "acta1a",
                    "type": "recommended"
                },
                {
                    "name": "acta1a",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh0293",
                    "type": "synonym"
                },
                {
                    "name": "zeh0293",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112098",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TN73-1",
            "evidence": [
                {
                    "id": "0081339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68134-1",
            "uniprot_ac": "P68134",
            "uniprot_id": "ACTS_MOUSE",
            "refseq_ac": "NP_001258970",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-actin-1",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acta1",
                    "type": "recommended"
                },
                {
                    "name": "Acta-2",
                    "type": "synonym"
                },
                {
                    "name": "Acta1",
                    "type": "synonym"
                },
                {
                    "name": "Acta",
                    "type": "synonym"
                },
                {
                    "name": "Actsk-1",
                    "type": "synonym"
                },
                {
                    "name": "Acts",
                    "type": "synonym"
                }
            ],
            "record_id": "P68134-1",
            "evidence": [
                {
                    "id": "0081339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68133-1",
            "uniprot_ac": "P68133",
            "uniprot_id": "ACTS_HUMAN",
            "refseq_ac": "NP_001091",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-actin-1",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "nemaline myopathy type 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACTA1",
                    "type": "recommended"
                },
                {
                    "name": "ACTA1",
                    "type": "synonym"
                },
                {
                    "name": "ACTA",
                    "type": "synonym"
                },
                {
                    "name": "ASMA",
                    "type": "synonym"
                },
                {
                    "name": "CFTD1",
                    "type": "synonym"
                },
                {
                    "name": "CFTDM",
                    "type": "synonym"
                },
                {
                    "name": "CFTD",
                    "type": "synonym"
                },
                {
                    "name": "CMYO2A",
                    "type": "synonym"
                },
                {
                    "name": "CMYO2B",
                    "type": "synonym"
                },
                {
                    "name": "CMYO2C",
                    "type": "synonym"
                },
                {
                    "name": "CMYP2A",
                    "type": "synonym"
                },
                {
                    "name": "CMYP2B",
                    "type": "synonym"
                },
                {
                    "name": "CMYP2C",
                    "type": "synonym"
                },
                {
                    "name": "MPFD",
                    "type": "synonym"
                },
                {
                    "name": "NEM1",
                    "type": "synonym"
                },
                {
                    "name": "NEM2",
                    "type": "synonym"
                },
                {
                    "name": "NEM3",
                    "type": "synonym"
                },
                {
                    "name": "SHPM",
                    "type": "synonym"
                }
            ],
            "record_id": "P68133-1",
            "evidence": [
                {
                    "id": "620265",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620265"
                },
                {
                    "id": "0081339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60010-1",
            "uniprot_ac": "P60010",
            "uniprot_id": "ACT_YEAST",
            "refseq_ac": "NP_116614",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACT1",
                    "type": "recommended"
                },
                {
                    "name": "ABY1",
                    "type": "synonym"
                },
                {
                    "name": "ACT1",
                    "type": "synonym"
                },
                {
                    "name": "END7",
                    "type": "synonym"
                }
            ],
            "record_id": "P60010-1",
            "evidence": [
                {
                    "id": "0081339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68136-1",
            "uniprot_ac": "P68136",
            "uniprot_id": "ACTS_RAT",
            "refseq_ac": "NP_062085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-actin-1",
                    "type": "synonym"
                },
                {
                    "name": "actin alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acta1",
                    "type": "recommended"
                },
                {
                    "name": "Acta1",
                    "type": "synonym"
                },
                {
                    "name": "Acta",
                    "type": "synonym"
                }
            ],
            "record_id": "P68136-1",
            "evidence": [
                {
                    "id": "0081339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45891-1",
            "uniprot_ac": "P45891",
            "uniprot_id": "ACTY_DROME",
            "refseq_ac": "NP_477037",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 53D",
                    "type": "recommended"
                },
                {
                    "name": "Actin-related protein 53D",
                    "type": "synonym"
                },
                {
                    "name": "Arp53D-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG5409-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arp53D",
                    "type": "recommended"
                },
                {
                    "name": "ARP53D",
                    "type": "synonym"
                },
                {
                    "name": "Actr53D",
                    "type": "synonym"
                },
                {
                    "name": "Arp53D",
                    "type": "synonym"
                },
                {
                    "name": "ArpG",
                    "type": "synonym"
                },
                {
                    "name": "Arp_G",
                    "type": "synonym"
                },
                {
                    "name": "CG5409",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5409",
                    "type": "synonym"
                },
                {
                    "name": "arp53D",
                    "type": "synonym"
                },
                {
                    "name": "arp5",
                    "type": "synonym"
                }
            ],
            "record_id": "P45891-1",
            "evidence": [
                {
                    "id": "0081339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51798-1",
            "uniprot_ac": "P51798",
            "uniprot_id": "CLCN7_HUMAN",
            "refseq_ac": "NP_001107803",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 7",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "ClC-7",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 7 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 7",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN7",
                    "type": "recommended"
                },
                {
                    "name": "CLC-7",
                    "type": "synonym"
                },
                {
                    "name": "CLC7",
                    "type": "synonym"
                },
                {
                    "name": "CLCN7",
                    "type": "synonym"
                },
                {
                    "name": "HOD",
                    "type": "synonym"
                },
                {
                    "name": "OPTA2",
                    "type": "synonym"
                },
                {
                    "name": "OPTB4",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R63",
                    "type": "synonym"
                }
            ],
            "record_id": "P51798-1",
            "evidence": [
                {
                    "id": "0081339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081339"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081339"
}