Epidermolysis Bullosa, Junctional 1b, Severe (JEB1B)

Epidermolysis Bullosa, Junctional 1b, Severe(来自ICD-11)
别称:
Epidermolysis Bullosa, Junctional, Herlitz Type
Epidermolysis Bullosa Letalis
Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
Junctional Epidermolysis Bullosa Generalisata Gravis
Junctional Epidermolysis Bullosa Herlitz Type
Herlitz-Pearson-Type Epidermolysis Bullosa
Jeb-Herlitz Type
Jeb1b
Jeb-H
Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
Epidermolysis Bullosa, Junctional, Generalized Severe
Junctional Epidermolysis Bullosa Herlitz-Pearson Type
Severe Generalized Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa Gravis of Herlitz
Epidermolysis Bullosa Junctionalis, Herlitz Type
Herlitz Type Epidermolysis Bullosa Junctionalis
Junctional Epidermolysis Bullosa, Herlitz Type
Junctional Epidermolysis Bullosa Gravis
Severe Generalized Jeb
Epidermolysis Letalis
Herlitz Disease
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Epidermolysis Bullosa, Junctional 1b, Severe, also known as epidermolysis bullosa, junctional, herlitz type, is related to epidermolysis bullosa, junctional 5b, with pyloric atresia and pyloric atresia, and has symptoms including onychomadesis and exuberant granulation tissue. An important gene associated with Epidermolysis Bullosa, Junctional 1b, Severe is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin and eye, and related phenotypes are failure to thrive and abnormality of the nail
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MALACARDS
AR
Newborn
<1/1000000
15
99
79

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