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Items: 2

1.

Cutis laxa, X-linked

Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995). [from OMIM]

MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
2.

Ureteral obstruction

Obstruction of the flow of urine through the ureter. [from HPO]

MedGen UID:
12012
Concept ID:
C0041956
Disease or Syndrome

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