{
    "disease_id": "DOID:0111220",
    "recommended_name": {
        "id": "DOID:0111220",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111220",
        "name": "centronuclear myopathy 2",
        "description": "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111220",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111220",
            "name": "CNM2",
            "description": ""
        },
        {
            "id": "MONDO:0009709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009709",
            "name": "myopathy, centronuclear, 2",
            "description": "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene."
        },
        {
            "id": "MONDO:0009709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009709",
            "name": "BIN1 centronuclear myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009709",
            "name": "centronuclear myopathy caused by mutation in BIN1",
            "description": ""
        },
        {
            "id": "MONDO:0009709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009709",
            "name": "myopathy, centronuclear, 2",
            "description": ""
        },
        {
            "id": "MONDO:0009709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009709",
            "name": "myopathy, centronuclear, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009709",
            "name": "CNM2",
            "description": ""
        },
        {
            "id": "MIM:255200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255200",
            "name": "Myopathy, centronuclear, 2",
            "description": "Myopathy, centronuclear, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111220"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111220",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111220",
            "categories": []
        },
        {
            "id": "MONDO:0009709",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009709",
            "categories": []
        },
        {
            "id": "MIM:255200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/255200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QMI5-1",
            "uniprot_ac": "A0A2R8QMI5",
            "uniprot_id": "A0A2R8QMI5_DANRE",
            "refseq_ac": "NP_001314899",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Myc box-dependent-interacting protein 1b isoform 1",
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                },
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                    "name": "bridging integrator 1",
                    "type": "synonym"
                },
                {
                    "name": "myc box-dependent-interacting protein 1b isoform 1",
                    "type": "synonym"
                }
            ],
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                    "name": "bin1b",
                    "type": "recommended"
                },
                {
                    "name": "bin1b",
                    "type": "synonym"
                },
                {
                    "name": "bin1",
                    "type": "synonym"
                },
                {
                    "name": "cb57",
                    "type": "synonym"
                },
                {
                    "name": "im:7137547",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-114n24.7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86701",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QMI5-1",
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                {
                    "id": "0111220",
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        },
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                }
            ],
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                {
                    "name": "Amphiphysin isoform X1",
                    "type": "synonym"
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                {
                    "name": "amphiphysin isoform X1",
                    "type": "synonym"
                }
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                    "type": "recommended"
                },
                {
                    "name": "amph",
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                },
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                    "name": "wu:fq25h04",
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                    "name": "zgc:73193",
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            ],
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                    "id": "0111220",
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                }
            ]
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                }
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                    "name": "bridging integrator 2b isoform X1",
                    "type": "synonym"
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                {
                    "name": "bin2b",
                    "type": "recommended"
                },
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                    "type": "synonym"
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                    "id": "0111220",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O08539-1",
            "uniprot_ac": "O08539",
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            "refseq_ac": "NP_033798",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myc box-dependent-interacting protein 1",
                    "type": "recommended"
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                    "name": "Amphiphysin II",
                    "type": "synonym"
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                    "name": "Amphiphysin-like protein",
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                {
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                    "type": "synonym"
                },
                {
                    "name": "SH3 domain-containing protein 9",
                    "type": "synonym"
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                    "name": "amphiphysin 2",
                    "type": "synonym"
                },
                {
                    "name": "amphiphysin II",
                    "type": "synonym"
                },
                {
                    "name": "amphiphysin-like protein",
                    "type": "synonym"
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                {
                    "name": "myc box-dependent-interacting protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myc box-dependent-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bin1",
                    "type": "recommended"
                },
                {
                    "name": "ALP-1",
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                },
                {
                    "name": "Amphl",
                    "type": "synonym"
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                    "name": "BRAMP-2",
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                    "name": "Bin1",
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                    "name": "Sh3p9",
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                    "id": "0111220",
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            "glycoprotein": "yes",
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                }
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                }
            ],
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                    "name": "Amphiphysin",
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            "uniprot_canonical_ac": "O00499-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                    "name": "Myc box-dependent-interacting protein 1",
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                    "name": "chymotrypsin-like elastase family member 1 precursor",
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                    "name": "elastase 1, pancreatic",
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                    "name": "Breast cancer-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer associated protein BRAP1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "bridging integrator 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BIN2",
                    "type": "recommended"
                },
                {
                    "name": "BIN2",
                    "type": "synonym"
                },
                {
                    "name": "BRAP-1",
                    "type": "synonym"
                },
                {
                    "name": "BRAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBW5-1",
            "evidence": [
                {
                    "id": "0111220",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111220"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49418-1",
            "uniprot_ac": "P49418",
            "uniprot_id": "AMPH_HUMAN",
            "refseq_ac": "NP_001626",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amphiphysin",
                    "type": "recommended"
                },
                {
                    "name": "amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)",
                    "type": "synonym"
                },
                {
                    "name": "amphiphysin I",
                    "type": "synonym"
                },
                {
                    "name": "amphiphysin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMPH",
                    "type": "recommended"
                },
                {
                    "name": "AMPH1",
                    "type": "synonym"
                },
                {
                    "name": "AMPH",
                    "type": "synonym"
                }
            ],
            "record_id": "P49418-1",
            "evidence": [
                {
                    "id": "0111220",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111220"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111220"
}