{
    "disease_id": "DOID:0111224",
    "recommended_name": {
        "id": "DOID:0111224",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111224",
        "name": "centronuclear myopathy 4",
        "description": "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111224",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111224",
            "name": "CNM4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "congenital myopathy with internal nuclei and atypical cores",
            "description": "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients."
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "CNM4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "centronuclear myopathy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "myopathy, centronuclear, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "myopathy, centronuclear, 4",
            "description": ""
        },
        {
            "id": "MIM:614807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614807",
            "name": "Myopathy, centronuclear, 4",
            "description": "Myopathy, centronuclear, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111224"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111224",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111224",
            "categories": []
        },
        {
            "id": "MONDO:0013890",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "categories": []
        },
        {
            "id": "MIM:614807",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614807",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "D3Z5T1-1",
            "uniprot_ac": "D3Z5T1",
            "uniprot_id": "CCD78_MOUSE",
            "refseq_ac": "NP_001159401",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 78",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain-containing protein 78",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc78",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc78",
                    "type": "synonym"
                },
                {
                    "name": "Gm938",
                    "type": "synonym"
                },
                {
                    "name": "Gm950",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z5T1-1",
            "evidence": [
                {
                    "id": "0111224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2IDD5-1",
            "uniprot_ac": "A2IDD5",
            "uniprot_id": "CCD78_HUMAN",
            "refseq_ac": "NP_001026907",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 78",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain-containing protein 78 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 78",
                    "type": "synonym"
                },
                {
                    "name": "hsCCDC78",
                    "type": "synonym"
                },
                {
                    "name": "sarcoplasmin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC78",
                    "type": "recommended"
                },
                {
                    "name": "C16orf25",
                    "type": "synonym"
                },
                {
                    "name": "CCDC78",
                    "type": "synonym"
                },
                {
                    "name": "CNM4",
                    "type": "synonym"
                },
                {
                    "name": "JFP10",
                    "type": "synonym"
                },
                {
                    "name": "hsCCDC78",
                    "type": "synonym"
                }
            ],
            "record_id": "A2IDD5-1",
            "evidence": [
                {
                    "id": "614807",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614807"
                },
                {
                    "id": "0111224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7ELZ7-1",
            "uniprot_ac": "F7ELZ7",
            "uniprot_id": "F7ELZ7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain containing 78",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc78",
                    "type": "recommended"
                }
            ],
            "record_id": "F7ELZ7-1",
            "evidence": [
                {
                    "id": "0111224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111224"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111224"
}