{
    "disease_id": "DOID:0081342",
    "recommended_name": {
        "id": "DOID:0081342",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081342",
        "name": "congenital myopathy 8",
        "description": "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe."
    },
    "synonyms": [
        {
            "id": "MONDO:0032852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032852",
            "name": "myopathy, congenital, with structured cores and z-line abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0032852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032852",
            "name": "myopathy, congenital with structured cores and z-line abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0032852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032852",
            "name": "MYOCOZ",
            "description": ""
        },
        {
            "id": "MIM:618654",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618654",
            "name": "Congenital myopathy 8",
            "description": "Congenital myopathy 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081342"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081342",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081342",
            "categories": []
        },
        {
            "id": "MONDO:0032852",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032852",
            "categories": []
        },
        {
            "id": "MIM:618654",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618654",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N882-1",
            "uniprot_ac": "A0A8M1N882",
            "uniprot_id": "A0A8M1N882_DANRE",
            "refseq_ac": "NP_001032662",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin-2b",
                    "type": "synonym"
                },
                {
                    "name": "actinin, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "actn2b",
                    "type": "recommended"
                },
                {
                    "name": "actn2b",
                    "type": "synonym"
                },
                {
                    "name": "actn2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd44c03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123223",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N882-1",
            "evidence": [
                {
                    "id": "0081342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JI91-1",
            "uniprot_ac": "Q9JI91",
            "uniprot_id": "ACTN2_MOUSE",
            "refseq_ac": "NP_150371",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin-2",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-actinin skeletal muscle isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "F-actin cross-linking protein",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actn2",
                    "type": "recommended"
                },
                {
                    "name": "1110008F24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Actn2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JI91-1",
            "evidence": [
                {
                    "id": "0081342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35609-1",
            "uniprot_ac": "P35609",
            "uniprot_id": "ACTN2_HUMAN",
            "refseq_ac": "NP_001094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin-2",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-actinin skeletal muscle isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "F-actin cross-linking protein",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACTN2",
                    "type": "recommended"
                },
                {
                    "name": "ACTN2",
                    "type": "synonym"
                },
                {
                    "name": "CMD1AA",
                    "type": "synonym"
                },
                {
                    "name": "CMH23",
                    "type": "synonym"
                },
                {
                    "name": "CMYO8",
                    "type": "synonym"
                },
                {
                    "name": "CMYP8",
                    "type": "synonym"
                },
                {
                    "name": "MPD6",
                    "type": "synonym"
                },
                {
                    "name": "MYOCOZ",
                    "type": "synonym"
                }
            ],
            "record_id": "P35609-1",
            "evidence": [
                {
                    "id": "618654",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618654"
                },
                {
                    "id": "0081342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ARF4-1",
            "uniprot_ac": "A0A8I6ARF4",
            "uniprot_id": "A0A8I6ARF4_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-actin cross-linking protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Actn2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ARF4-1",
            "evidence": [
                {
                    "id": "0081342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18091-3",
            "uniprot_ac": "P18091",
            "uniprot_id": "ACTN_DROME",
            "refseq_ac": "NP_001188532",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin, sarcomeric",
                    "type": "recommended"
                },
                {
                    "name": "Actn-PD",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-actinin",
                    "type": "synonym"
                },
                {
                    "name": "CG4376-PD",
                    "type": "synonym"
                },
                {
                    "name": "F-actin cross-linking protein",
                    "type": "synonym"
                },
                {
                    "name": "a-actinin",
                    "type": "synonym"
                },
                {
                    "name": "alpha actinin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "flightless A",
                    "type": "synonym"
                },
                {
                    "name": "flightless-A",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)2cb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actn",
                    "type": "recommended"
                },
                {
                    "name": "ACTN",
                    "type": "synonym"
                },
                {
                    "name": "Actn",
                    "type": "synonym"
                },
                {
                    "name": "CG4376",
                    "type": "synonym"
                },
                {
                    "name": "CT14163",
                    "type": "synonym"
                },
                {
                    "name": "CT14232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4376",
                    "type": "synonym"
                },
                {
                    "name": "EG:133E12.1",
                    "type": "synonym"
                },
                {
                    "name": "GA17",
                    "type": "synonym"
                },
                {
                    "name": "HM-29",
                    "type": "synonym"
                },
                {
                    "name": "actn",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin",
                    "type": "synonym"
                },
                {
                    "name": "alphaActn",
                    "type": "synonym"
                },
                {
                    "name": "fliA",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Cb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)EA82",
                    "type": "synonym"
                },
                {
                    "name": "y",
                    "type": "synonym"
                }
            ],
            "record_id": "P18091-3",
            "evidence": [
                {
                    "id": "0081342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081342"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081342"
}