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Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase

MedGen UID:: 342036
•Concept ID:: C1851570
•: Disease or Syndrome

Synonym:	Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase

Monarch Initiative:	MONDO:0007553
OMIM®:	131880

Clinical features

From HPO

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.

See: Feature record | Search on this feature

Abnormality of the integument
- Abnormal blistering of the skin

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