{
    "disease_id": "DOID:0111222",
    "recommended_name": {
        "id": "DOID:0111222",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111222",
        "name": "centronuclear myopathy 5",
        "description": "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0111222",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111222",
            "name": "CNM5",
            "description": ""
        },
        {
            "id": "MONDO:0014418",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014418",
            "name": "myopathy, centronuclear, 5",
            "description": "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene."
        },
        {
            "id": "MONDO:0014418",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014418",
            "name": "SPEG autosomal recessive centronuclear myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014418",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014418",
            "name": "autosomal recessive centronuclear myopathy caused by mutation in SPEG",
            "description": ""
        },
        {
            "id": "MONDO:0014418",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014418",
            "name": "myopathy, centronuclear, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014418",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014418",
            "name": "myopathy, centronuclear, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014418",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014418",
            "name": "CNM5",
            "description": ""
        },
        {
            "id": "MIM:615959",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615959",
            "name": "Myopathy, centronuclear, 5",
            "description": "Myopathy, centronuclear, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111222"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111222",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111222",
            "categories": []
        },
        {
            "id": "MONDO:0014418",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014418",
            "categories": []
        },
        {
            "id": "MIM:615959",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615959",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QG49-1",
            "uniprot_ac": "A0A8M9QG49",
            "uniprot_id": "A0A8M9QG49_DANRE",
            "refseq_ac": "XP_021334681",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic preferentially expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle preferentially expressed protein kinase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spegb",
                    "type": "recommended"
                },
                {
                    "name": "spegb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QG49-1",
            "evidence": [
                {
                    "id": "0111222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q696W0-1",
            "uniprot_ac": "Q696W0",
            "uniprot_id": "SPEG_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Striated muscle preferentially expressed protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "speg",
                    "type": "recommended"
                },
                {
                    "name": "apeg1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q696W0-1",
            "evidence": [
                {
                    "id": "0111222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62407-1",
            "uniprot_ac": "Q62407",
            "uniprot_id": "SPEG_MOUSE",
            "refseq_ac": "NP_001078839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Striated muscle-specific serine/threonine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "APEG-1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic preferentially expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "aortic preferentially expressed gene 1",
                    "type": "synonym"
                },
                {
                    "name": "aortic preferentially expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle-specific serine/threonine-protein kinase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle-specific serine/threonine-protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Speg",
                    "type": "recommended"
                },
                {
                    "name": "APEG-1",
                    "type": "synonym"
                },
                {
                    "name": "Apeg1",
                    "type": "synonym"
                },
                {
                    "name": "BPEG",
                    "type": "synonym"
                },
                {
                    "name": "D1Bwg1450e",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1297",
                    "type": "synonym"
                },
                {
                    "name": "SPEGalpha",
                    "type": "synonym"
                },
                {
                    "name": "SPEGbeta",
                    "type": "synonym"
                },
                {
                    "name": "Speg",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1297",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62407-1",
            "evidence": [
                {
                    "id": "0111222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15772-5",
            "uniprot_ac": "Q15772",
            "uniprot_id": "SPEG_HUMAN",
            "refseq_ac": "NP_001166947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Striated muscle preferentially expressed protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "APEG-1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic preferentially expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPEG complex locus",
                    "type": "synonym"
                },
                {
                    "name": "aortic preferentially expressed gene 1",
                    "type": "synonym"
                },
                {
                    "name": "aortic preferentially expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle preferentially expressed protein kinase isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle preferentially expressed protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPEG",
                    "type": "recommended"
                },
                {
                    "name": "APEG-1",
                    "type": "synonym"
                },
                {
                    "name": "APEG1",
                    "type": "synonym"
                },
                {
                    "name": "BPEG",
                    "type": "synonym"
                },
                {
                    "name": "CNM5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1297",
                    "type": "synonym"
                },
                {
                    "name": "MYLK6",
                    "type": "synonym"
                },
                {
                    "name": "SPEGalpha",
                    "type": "synonym"
                },
                {
                    "name": "SPEGbeta",
                    "type": "synonym"
                },
                {
                    "name": "SPEG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15772-5",
            "evidence": [
                {
                    "id": "615959",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615959"
                },
                {
                    "id": "0111222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63638-1",
            "uniprot_ac": "Q63638",
            "uniprot_id": "SPEG_RAT",
            "refseq_ac": "NP_001102272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Striated muscle-specific serine/threonine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "APEG-1",
                    "type": "synonym"
                },
                {
                    "name": "Aortic preferentially expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SPEG complex locus",
                    "type": "synonym"
                },
                {
                    "name": "aortic preferentially expressed gene 1",
                    "type": "synonym"
                },
                {
                    "name": "aortic preferentially expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle-specific serine/threonine-protein kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "striated muscle-specific serine/threonine-protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Speg",
                    "type": "recommended"
                },
                {
                    "name": "APEG-1",
                    "type": "synonym"
                },
                {
                    "name": "Apeg1",
                    "type": "synonym"
                },
                {
                    "name": "Speg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63638-1",
            "evidence": [
                {
                    "id": "0111222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111222"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111222"
}