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Epidermolysis bullosa with diaphragmatic hernia

MedGen UID:
346473
Concept ID:
C1856933
Disease or Syndrome
Synonym: Epidermolysis Bullosa With Diaphragmatic Hernia
 
Monarch Initiative: MONDO:0009184
OMIM®: 226735

Clinical features

From HPO
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Palmoplantar blistering
MedGen UID:
870430
Concept ID:
C4024876
Finding
A type of blistering that affects the skin of the palms of the hands and the soles of the feet.

Supplemental Content

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