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Metadata
ID DOID:0060889
Name prune belly 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.
https://en.wikipedia.org/wiki/Prune_belly_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15912376, https://www.ncbi.nlm.nih.gov/pubmed/22077972
Xrefs

GARD:7479

ICD10CM:Q79.4

MESH:D011535

OMIM:100100

ORDO:2970

Synonyms

abdominal muscle deficiency syndrome [EXACT]

Eagle-Barret syndrome [EXACT]

Obrisnksy syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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