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DO Term : prune belly syndrome [DOID:0060889] Disease Ontology

Namespace  disease_ontology Obsolete  false
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:
  • OMIM:100100,
  • ICD10CM:Q79.4,
  • GARD:7479,
  • abdominal muscle deficiency syndrome,
  • ORDO:2970,
  • Obrisnksy syndrome,
  • MESH:D011535,
  • Eagle-Barret syndrome,
  • 100100
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