{
    "disease_id": "DOID:0081349",
    "recommended_name": {
        "id": "DOID:0081349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081349",
        "name": "congenital myopathy 17",
        "description": "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0033548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033548",
            "name": "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0033548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033548",
            "name": "MYODRIF",
            "description": ""
        },
        {
            "id": "MIM:618975",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618975",
            "name": "Congenital myopathy 17",
            "description": "Congenital myopathy 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081349",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081349",
            "categories": []
        },
        {
            "id": "MONDO:0033548",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033548",
            "categories": []
        },
        {
            "id": "MIM:618975",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618975",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90477-1",
            "uniprot_ac": "Q90477",
            "uniprot_id": "MYOD1_DANRE",
            "refseq_ac": "NP_571337",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myoblast determination protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Myogenic factor 1",
                    "type": "synonym"
                },
                {
                    "name": "myoblast determination 1",
                    "type": "synonym"
                },
                {
                    "name": "myoblast determination protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "myogenic factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myod1",
                    "type": "recommended"
                },
                {
                    "name": "etID309723.25",
                    "type": "synonym"
                },
                {
                    "name": "myod1",
                    "type": "synonym"
                },
                {
                    "name": "myod",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb57a01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136744",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90477-1",
            "evidence": [
                {
                    "id": "0081349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10085-1",
            "uniprot_ac": "P10085",
            "uniprot_id": "MYOD1_MOUSE",
            "refseq_ac": "NP_034996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myoblast determination protein 1",
                    "type": "recommended"
                },
                {
                    "name": "myoblast determination protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myod1",
                    "type": "recommended"
                },
                {
                    "name": "MYF3",
                    "type": "synonym"
                },
                {
                    "name": "MyoD",
                    "type": "synonym"
                },
                {
                    "name": "Myod-1",
                    "type": "synonym"
                },
                {
                    "name": "Myod1",
                    "type": "synonym"
                },
                {
                    "name": "Myod",
                    "type": "synonym"
                },
                {
                    "name": "bHLHc1",
                    "type": "synonym"
                }
            ],
            "record_id": "P10085-1",
            "evidence": [
                {
                    "id": "0081349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15172-1",
            "uniprot_ac": "P15172",
            "uniprot_id": "MYOD1_HUMAN",
            "refseq_ac": "NP_002469",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myoblast determination protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Class C basic helix-loop-helix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myf-3",
                    "type": "synonym"
                },
                {
                    "name": "Myogenic factor 3",
                    "type": "synonym"
                },
                {
                    "name": "bHLHc1",
                    "type": "synonym"
                },
                {
                    "name": "class C basic helix-loop-helix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "myf-3",
                    "type": "synonym"
                },
                {
                    "name": "myoblast determination protein 1",
                    "type": "synonym"
                },
                {
                    "name": "myogenic factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYOD1",
                    "type": "recommended"
                },
                {
                    "name": "BHLHC1",
                    "type": "synonym"
                },
                {
                    "name": "CMYO17",
                    "type": "synonym"
                },
                {
                    "name": "CMYP17",
                    "type": "synonym"
                },
                {
                    "name": "MYF3",
                    "type": "synonym"
                },
                {
                    "name": "MYOD1",
                    "type": "synonym"
                },
                {
                    "name": "MYODRIF",
                    "type": "synonym"
                },
                {
                    "name": "MYOD",
                    "type": "synonym"
                },
                {
                    "name": "PUM",
                    "type": "synonym"
                },
                {
                    "name": "bHLHc1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15172-1",
            "evidence": [
                {
                    "id": "618975",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618975"
                },
                {
                    "id": "0081349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02346-1",
            "uniprot_ac": "Q02346",
            "uniprot_id": "MYOD1_RAT",
            "refseq_ac": "NP_788268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myoblast determination protein 1",
                    "type": "recommended"
                },
                {
                    "name": "myoblast determination protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myod1",
                    "type": "recommended"
                },
                {
                    "name": "Myod1",
                    "type": "synonym"
                },
                {
                    "name": "Myod",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02346-1",
            "evidence": [
                {
                    "id": "0081349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22816-1",
            "uniprot_ac": "P22816",
            "uniprot_id": "MYOD_DROME",
            "refseq_ac": "NP_476650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myogenic-determination protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10250-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein nautilus",
                    "type": "synonym"
                },
                {
                    "name": "dMyd",
                    "type": "synonym"
                },
                {
                    "name": "myogenic determination",
                    "type": "synonym"
                },
                {
                    "name": "nau-PA",
                    "type": "synonym"
                },
                {
                    "name": "nautilus, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "nautilus",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nau",
                    "type": "recommended"
                },
                {
                    "name": "CG10250",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10250",
                    "type": "synonym"
                },
                {
                    "name": "Dmyd",
                    "type": "synonym"
                },
                {
                    "name": "MYD",
                    "type": "synonym"
                },
                {
                    "name": "MYOD",
                    "type": "synonym"
                },
                {
                    "name": "Mdrf",
                    "type": "synonym"
                },
                {
                    "name": "MyoD",
                    "type": "synonym"
                },
                {
                    "name": "NAU",
                    "type": "synonym"
                },
                {
                    "name": "Nau",
                    "type": "synonym"
                },
                {
                    "name": "nau",
                    "type": "synonym"
                }
            ],
            "record_id": "P22816-1",
            "evidence": [
                {
                    "id": "0081349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081349"
}