{
    "disease_id": "DOID:0112014",
    "recommended_name": {
        "id": "DOID:0112014",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112014",
        "name": "congenital megabladder",
        "description": "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12."
    },
    "synonyms": [
        {
            "id": "DOID:0112014",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112014",
            "name": "MGBL",
            "description": ""
        },
        {
            "id": "MONDO:0032879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032879",
            "name": "megabladder, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0032879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032879",
            "name": "MGBL",
            "description": ""
        },
        {
            "id": "MIM:618719",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618719",
            "name": "Megabladder, congenital",
            "description": "Megabladder, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112014"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112014",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112014",
            "categories": []
        },
        {
            "id": "MONDO:0032879",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032879",
            "categories": []
        },
        {
            "id": "MIM:618719",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618719",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BGQ6-1",
            "uniprot_ac": "A0A8M2BGQ6",
            "uniprot_id": "A0A8M2BGQ6_DANRE",
            "refseq_ac": "XP_005169482",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myocardin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myocd",
                    "type": "recommended"
                },
                {
                    "name": "myocd",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BGQ6-1",
            "evidence": [
                {
                    "id": "0112014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112014"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VIM5-1",
            "uniprot_ac": "Q8VIM5",
            "uniprot_id": "MYCD_MOUSE",
            "refseq_ac": "NP_660118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin",
                    "type": "recommended"
                },
                {
                    "name": "Basic SAP coiled-coil transcription activator 2",
                    "type": "synonym"
                },
                {
                    "name": "SRF co-factor protein (cardiac and smooth muscle)",
                    "type": "synonym"
                },
                {
                    "name": "SRF cofactor protein",
                    "type": "synonym"
                },
                {
                    "name": "basic SAP coiled-coil transcription activator 2",
                    "type": "synonym"
                },
                {
                    "name": "myocardin isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myocd",
                    "type": "recommended"
                },
                {
                    "name": "BSAC2A",
                    "type": "synonym"
                },
                {
                    "name": "Bsac2",
                    "type": "synonym"
                },
                {
                    "name": "Mycd",
                    "type": "synonym"
                },
                {
                    "name": "Myocd",
                    "type": "synonym"
                },
                {
                    "name": "Srfcp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIM5-1",
            "evidence": [
                {
                    "id": "0112014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112014"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IZQ8-1",
            "uniprot_ac": "Q8IZQ8",
            "uniprot_id": "MYCD_HUMAN",
            "refseq_ac": "NP_001139784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin",
                    "type": "recommended"
                },
                {
                    "name": "myocardin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYOCD",
                    "type": "recommended"
                },
                {
                    "name": "MGBL",
                    "type": "synonym"
                },
                {
                    "name": "MYCD",
                    "type": "synonym"
                },
                {
                    "name": "MYOCD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IZQ8-1",
            "evidence": [
                {
                    "id": "618719",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618719"
                },
                {
                    "id": "0112014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112014"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R5I7-1",
            "uniprot_ac": "Q8R5I7",
            "uniprot_id": "MYCD_RAT",
            "refseq_ac": "NP_872608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myocardin",
                    "type": "recommended"
                },
                {
                    "name": "myocardin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor myocardin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myocd",
                    "type": "recommended"
                },
                {
                    "name": "Mycd",
                    "type": "synonym"
                },
                {
                    "name": "Myocd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R5I7-1",
            "evidence": [
                {
                    "id": "0112014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112014"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z043-1",
            "uniprot_ac": "B7Z043",
            "uniprot_id": "B7Z043_DROME",
            "refseq_ac": "NP_001137879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32296-PH",
                    "type": "synonym"
                },
                {
                    "name": "Mrtf-PH",
                    "type": "synonym"
                },
                {
                    "name": "Myocardin-related transcription factor, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "myocardin-related transcription factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrtf",
                    "type": "recommended"
                },
                {
                    "name": "CG12188",
                    "type": "synonym"
                },
                {
                    "name": "CG14951",
                    "type": "synonym"
                },
                {
                    "name": "CG32296",
                    "type": "synonym"
                },
                {
                    "name": "DMRTF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32296",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32296",
                    "type": "synonym"
                },
                {
                    "name": "MAL-D",
                    "type": "synonym"
                },
                {
                    "name": "MRTF",
                    "type": "synonym"
                },
                {
                    "name": "Mal-D",
                    "type": "synonym"
                },
                {
                    "name": "Mrtf",
                    "type": "synonym"
                },
                {
                    "name": "dMRTF",
                    "type": "synonym"
                },
                {
                    "name": "dMrtf",
                    "type": "synonym"
                },
                {
                    "name": "mal-d",
                    "type": "synonym"
                },
                {
                    "name": "mal",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z043-1",
            "evidence": [
                {
                    "id": "0112014",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112014"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112014"
}