Severe Junctional Epidermolysis Bullosa 3B

Preferred Label : Severe Junctional Epidermolysis Bullosa 3B;

NCIt synonyms : Junctional Epidermolysis Bullosa Type Herlitz; Generalized Severe Epidermolysis Bullosa; JEB-H; JEB3B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the LAMC2 gene, encoding laminin subunit gamma-2. It is characterized by severe skin blisters and erosions and is often fatal.;

Détails

Origin ID

C210893;

Has associated anatomic sites
- Integumentary System [NCIt concept]
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- Cellosaurus Disease Terminology [NCIt concept]
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- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
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- Skin [NCIt concept]
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- LAMC2 Gene [NCIt concept]

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