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Repository for lectin-assisted multimodality data
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MIRAGE
prune belly syndrome
Summary
- Synonym
-
- Eagle-Barret syndrome
- Obrisnksy syndrome
- abdominal muscle deficiency syndrome
- Definition
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060889
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20309 | Muscarinic acetylcholine receptor M3 |
