{
    "disease_id": "DOID:0110663",
    "recommended_name": {
        "id": "DOID:0110663",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110663",
        "name": "congenital myasthenic syndrome 1A",
        "description": "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."
    },
    "synonyms": [
        {
            "id": "DOID:0110663",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110663",
            "name": "CMS IIa",
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        },
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            "url": "https://disease-ontology.org/term/DOID:0110663",
            "name": "CMS1A",
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        },
        {
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            "url": "https://disease-ontology.org/term/DOID:0110663",
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            "description": ""
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        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
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        },
        {
            "id": "MONDO:0011088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
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            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011088",
            "name": "CMS1A",
            "description": ""
        },
        {
            "id": "MONDO:0011088",
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            "description": ""
        },
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        },
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        },
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        },
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            "description": ""
        },
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            "url": "https://www.omim.org/entry/601462",
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            "description": "Myasthenic syndrome, congenital, 1A, slow-channel"
        }
    ],
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        },
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            "categories": []
        },
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            ],
            "record_id": "Q9W3G6-1",
            "evidence": [
                {
                    "id": "0110663",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110663"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20810-1",
            "uniprot_ac": "P20810",
            "uniprot_id": "ICAL_HUMAN",
            "refseq_ac": "NP_001035905",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calpastatin",
                    "type": "recommended"
                },
                {
                    "name": "Calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "MIR583 host",
                    "type": "synonym"
                },
                {
                    "name": "Sperm BS-17 component",
                    "type": "synonym"
                },
                {
                    "name": "calpain inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "calpastatin isoform f",
                    "type": "synonym"
                },
                {
                    "name": "sperm BS-17 component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAST",
                    "type": "recommended"
                },
                {
                    "name": "BS-17",
                    "type": "synonym"
                },
                {
                    "name": "CAST",
                    "type": "synonym"
                },
                {
                    "name": "MIR583HG",
                    "type": "synonym"
                },
                {
                    "name": "PLACK",
                    "type": "synonym"
                }
            ],
            "record_id": "P20810-1",
            "evidence": [
                {
                    "id": "0110663",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110663"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110663"
}