{
    "disease_id": "DOID:0060889",
    "recommended_name": {
        "id": "DOID:0060889",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060889",
        "name": "prune belly syndrome",
        "description": "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43."
    },
    "synonyms": [
        {
            "id": "DOID:0060889",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060889",
            "name": "abdominal muscle deficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060889",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060889",
            "name": "Eagle-Barrett syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060889",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060889",
            "name": "Obrinsky syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060889",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060889",
            "name": "triad syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "prune belly syndrome",
            "description": "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes."
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "Obrinsky syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "Obrisnksy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "abdominal muscle deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "eagle-Barret syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "prune belly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "syndrome of agenesis of abdominal muscles",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "triad syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "name": "PBS",
            "description": ""
        },
        {
            "id": "MIM:100100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/100100",
            "name": "Prune belly syndrome",
            "description": "Prune belly syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060889"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060889",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060889",
            "categories": []
        },
        {
            "id": "MONDO:0007032",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007032",
            "categories": []
        },
        {
            "id": "MIM:100100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/100100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PNY8-1",
            "uniprot_ac": "A0A8M9PNY8",
            "uniprot_id": "A0A8M9PNY8_DANRE",
            "refseq_ac": "XP_021328763",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscarinic acetylcholine receptor",
                    "type": "recommended"
                },
                {
                    "name": "muscarinic acetylcholine receptor M3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chrm3a",
                    "type": "recommended"
                },
                {
                    "name": "chrm3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PNY8-1",
            "evidence": [
                {
                    "id": "0060889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERZ3-1",
            "uniprot_ac": "Q9ERZ3",
            "uniprot_id": "ACM3_MOUSE",
            "refseq_ac": "NP_150372",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscarinic acetylcholine receptor M3",
                    "type": "recommended"
                },
                {
                    "name": "AChR M3",
                    "type": "synonym"
                },
                {
                    "name": "Mm3 mAChR",
                    "type": "synonym"
                },
                {
                    "name": "mm3 mAChR",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine receptor M3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrm3",
                    "type": "recommended"
                },
                {
                    "name": "Chrm-3",
                    "type": "synonym"
                },
                {
                    "name": "Chrm3",
                    "type": "synonym"
                },
                {
                    "name": "M3R",
                    "type": "synonym"
                },
                {
                    "name": "M3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERZ3-1",
            "evidence": [
                {
                    "id": "0060889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20309-1",
            "uniprot_ac": "P20309",
            "uniprot_id": "ACM3_HUMAN",
            "refseq_ac": "NP_000731",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscarinic acetylcholine receptor M3",
                    "type": "recommended"
                },
                {
                    "name": "acetylcholine receptor, muscarinic 3",
                    "type": "synonym"
                },
                {
                    "name": "m3 muscarinic receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine receptor M3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHRM3",
                    "type": "recommended"
                },
                {
                    "name": "CHRM3",
                    "type": "synonym"
                },
                {
                    "name": "EGBRS",
                    "type": "synonym"
                },
                {
                    "name": "HM3",
                    "type": "synonym"
                },
                {
                    "name": "PBS",
                    "type": "synonym"
                },
                {
                    "name": "m3AChR",
                    "type": "synonym"
                }
            ],
            "record_id": "P20309-1",
            "evidence": [
                {
                    "id": "100100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/100100"
                },
                {
                    "id": "0060889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08483-1",
            "uniprot_ac": "P08483",
            "uniprot_id": "ACM3_RAT",
            "refseq_ac": "NP_036659",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscarinic acetylcholine receptor M3",
                    "type": "recommended"
                },
                {
                    "name": "cholinergic receptor, muscarinic 3, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine receptor M3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrm3",
                    "type": "recommended"
                },
                {
                    "name": "Chrm-3",
                    "type": "synonym"
                },
                {
                    "name": "Chrm3",
                    "type": "synonym"
                }
            ],
            "record_id": "P08483-1",
            "evidence": [
                {
                    "id": "0060889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16395-1",
            "uniprot_ac": "P16395",
            "uniprot_id": "ACM1_DROME",
            "refseq_ac": "NP_523844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscarinic acetylcholine receptor DM1",
                    "type": "recommended"
                },
                {
                    "name": "A-type mAChR",
                    "type": "synonym"
                },
                {
                    "name": "CG4356-PB",
                    "type": "synonym"
                },
                {
                    "name": "mAChR-A-PB",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine Receptor, A-type, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine receptor 60C",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic acetylcholine receptor",
                    "type": "synonym"
                },
                {
                    "name": "muscarinic receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mAChR-A",
                    "type": "recommended"
                },
                {
                    "name": "Acr60C",
                    "type": "synonym"
                },
                {
                    "name": "AcrC",
                    "type": "synonym"
                },
                {
                    "name": "CG4356",
                    "type": "synonym"
                },
                {
                    "name": "DM1",
                    "type": "synonym"
                },
                {
                    "name": "Dm-mAChR-A",
                    "type": "synonym"
                },
                {
                    "name": "Dm1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4356",
                    "type": "synonym"
                },
                {
                    "name": "mAChR A",
                    "type": "synonym"
                },
                {
                    "name": "mAChR-1",
                    "type": "synonym"
                },
                {
                    "name": "mAChR-A1",
                    "type": "synonym"
                },
                {
                    "name": "mAChR-A",
                    "type": "synonym"
                },
                {
                    "name": "mAChR",
                    "type": "synonym"
                },
                {
                    "name": "mAcR-60C",
                    "type": "synonym"
                },
                {
                    "name": "mAcR60C",
                    "type": "synonym"
                },
                {
                    "name": "mAcR",
                    "type": "synonym"
                },
                {
                    "name": "mAchR",
                    "type": "synonym"
                }
            ],
            "record_id": "P16395-1",
            "evidence": [
                {
                    "id": "0060889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060889"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82279-1",
            "uniprot_ac": "P82279",
            "uniprot_id": "CRUM1_HUMAN",
            "refseq_ac": "NP_001180569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein crumbs homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "crumbs 1, cell polarity complex component",
                    "type": "synonym"
                },
                {
                    "name": "crumbs family member 1, photoreceptor morphogenesis associated",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein crumbs homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRB1",
                    "type": "recommended"
                },
                {
                    "name": "CRB1-A",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-B",
                    "type": "synonym"
                },
                {
                    "name": "CRB1-C",
                    "type": "synonym"
                },
                {
                    "name": "CRB1",
                    "type": "synonym"
                },
                {
                    "name": "LCA8",
                    "type": "synonym"
                },
                {
                    "name": "RP12",
                    "type": "synonym"
                }
            ],
            "record_id": "P82279-1",
            "evidence": [
                {
                    "id": "0060889",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060889"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060889"
}
