{
    "disease_id": "DOID:0110927",
    "recommended_name": {
        "id": "DOID:0110927",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110927",
        "name": "nemaline myopathy 3",
        "description": "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0110927",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110927",
            "name": "NEM3",
            "description": ""
        },
        {
            "id": "DOID:0110927",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110927",
            "name": "nemaline myopathy 3, autosomal dominant or recessive",
            "description": ""
        },
        {
            "id": "DOID:0110927",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110927",
            "name": "congenital myopathy 2A",
            "description": ""
        },
        {
            "id": "DOID:0110927",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110927",
            "name": "autosomal dominant typical congenital myopathy 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "congenital myopathy 2a, typical, autosomal dominant",
            "description": "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles."
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "ACTA1 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "CMYO2A",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "actin accumulation myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "actin accumulation myopathy (disorder)",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "actin myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "congenital myopathy 2a, typical, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "congenital myopathy with excess of thin filaments",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy caused by mutation in ACTA1",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "NEM3",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy 3",
            "description": ""
        },
        {
            "id": "MIM:161800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/161800",
            "name": "Congenital myopathy 2A, typical, autosomal dominant",
            "description": "Congenital myopathy 2A, typical, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110927"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110927",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110927",
            "categories": []
        },
        {
            "id": "MONDO:0008070",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "categories": []
        },
        {
            "id": "MIM:161800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/161800",
            "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"
                }
            ],
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                {
                    "id": "0110927",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110927"
                }
            ]
        },
        {
            "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"
                }
            ],
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                    "id": "0110927",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68133-1",
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            "refseq_ac": "NP_001091",
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                {
                    "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",
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            ],
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                    "name": "ACTA1",
                    "type": "recommended"
                },
                {
                    "name": "ACTA1",
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                },
                {
                    "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",
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                    "id": "161800",
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                    "url": "https://www.omim.org/entry/161800"
                },
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                    "id": "0110927",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110927"
                }
            ]
        },
        {
            "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"
                },
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                    "name": "END7",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110927",
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                }
            ]
        },
        {
            "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]"
                }
            ],
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                {
                    "name": "Actin, alpha skeletal muscle",
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                },
                {
                    "name": "3.6.4.-",
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                },
                {
                    "name": "Alpha-actin-1",
                    "type": "synonym"
                },
                {
                    "name": "actin alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actin-1",
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                }
            ],
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                    "name": "Acta1",
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                },
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                    "name": "Acta1",
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                    "id": "0110927",
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            ]
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            "uniprot_canonical_ac": "P45891-1",
            "uniprot_ac": "P45891",
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                {
                    "name": "Drosophila melanogaster",
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                    "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",
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            ],
            "gene_names": [
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                    "name": "Arp53D",
                    "type": "recommended"
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                {
                    "name": "ARP53D",
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                },
                {
                    "name": "Actr53D",
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                {
                    "name": "Arp53D",
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                {
                    "name": "ArpG",
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                },
                {
                    "name": "Arp_G",
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                {
                    "name": "CG5409",
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                },
                {
                    "name": "Dmel\\CG5409",
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                {
                    "name": "arp53D",
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                {
                    "name": "arp5",
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            ],
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                    "id": "0110927",
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            ]
        },
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            "uniprot_canonical_ac": "P10981-1",
            "uniprot_ac": "P10981",
            "uniprot_id": "ACT5_DROME",
            "refseq_ac": "NP_001287314",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Actin-87E",
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                    "name": "3.6.4.-",
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                {
                    "name": "Act87E-PC",
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                {
                    "name": "CG18290-PC",
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                },
                {
                    "name": "F-actin",
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                },
                {
                    "name": "actin 87E, isoform C",
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                },
                {
                    "name": "actin 87E",
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                },
                {
                    "name": "actin87E",
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                }
            ],
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                    "name": "Act87E",
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                    "name": "ACT5",
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                    "name": "Act87E",
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                    "name": "Act87e",
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                    "name": "Actin87E",
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                },
                {
                    "name": "Actin",
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                },
                {
                    "name": "ArpC",
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                },
                {
                    "name": "CG18290",
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                },
                {
                    "name": "Dmel\\CG18290",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG18290",
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                {
                    "name": "E",
                    "type": "synonym"
                },
                {
                    "name": "act 87E",
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                },
                {
                    "name": "act87E",
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                },
                {
                    "name": "actin-87E",
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                },
                {
                    "name": "actin",
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                },
                {
                    "name": "mus87E",
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            ],
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                {
                    "id": "0110927",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83967-1",
            "uniprot_ac": "P83967",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Actin, indirect flight muscle",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
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                },
                {
                    "name": "88F actin",
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                },
                {
                    "name": "Act88F-PA",
                    "type": "synonym"
                },
                {
                    "name": "Actin-88F",
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                },
                {
                    "name": "CG5178-PA",
                    "type": "synonym"
                },
                {
                    "name": "F-actin",
                    "type": "synonym"
                },
                {
                    "name": "actin 88F",
                    "type": "synonym"
                },
                {
                    "name": "actin88F",
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                },
                {
                    "name": "arthrin",
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                }
            ],
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                    "name": "ACT88F",
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                },
                {
                    "name": "Act(88F)",
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                {
                    "name": "Act88-F",
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                {
                    "name": "Act88F",
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                {
                    "name": "Act88f",
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                {
                    "name": "Actin88F",
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                },
                {
                    "name": "Actin",
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                },
                {
                    "name": "ArpD",
                    "type": "synonym"
                },
                {
                    "name": "CG5178",
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                },
                {
                    "name": "Dmel\\CG5178",
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                },
                {
                    "name": "E",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(3)7",
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                },
                {
                    "name": "P83967",
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                },
                {
                    "name": "act 88F",
                    "type": "synonym"
                },
                {
                    "name": "act88F",
                    "type": "synonym"
                },
                {
                    "name": "actin",
                    "type": "synonym"
                },
                {
                    "name": "rsd",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110927",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110927"
                }
            ]
        },
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            "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",
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                },
                {
                    "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": "0110927",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110927"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110927"
}