Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked (PDR)

Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked(来自ICD-11)
别称:
Xlpdr
Pdr
Pigmentary Disorder, Reticulate, with Systemic Manifestations
X-Linked Reticulate Pigmentary Disorder
Familial Lichen Amyloidosis
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Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked, also known as xlpdr, is related to primary cutaneous amyloidosis and partington syndrome, and has symptoms including diarrhea and photophobia. An important gene associated with Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit). Affiliated tissues include skin, and related phenotypes are photophobia and failure to thrive in infancy
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参考文献
MALACARDS
XL
XLD
Unknown
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1
3
8

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