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Items: 2

1.

Multiple bladder diverticula

Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. [from HPO]

MedGen UID:
868423
Concept ID:
C4022817
Anatomical Abnormality
2.

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema. [from GeneReviews]

MedGen UID:
442566
Concept ID:
C2750804
Disease or Syndrome

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