Leopard Syndrome 1 (LPRD1)

Leopard Syndrome 1(来自ICD-11)
别称:
Noonan Syndrome with Multiple Lentigines 1
Lprd1
Lentiginosis, Cardiomyopathic
Multiple Lentigines Syndrome
Leopard Syndrome, Type 1
Multiple Lentigines
Leopard Syndrome
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Leopard Syndrome 1, also known as noonan syndrome with multiple lentigines 1, is related to noonan syndrome 1 and noonan syndrome with multiple lentigines, and has symptoms including hyposmia An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways is Interleukin-37 signaling. Affiliated tissues include ovary and heart, and related phenotypes are hypertelorism and multiple lentigines
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MALACARDS
AD
Unknown
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10
58
62

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