X-Linked Chondrodysplasia Punctata 1 (CDPX1)

X-Linked Chondrodysplasia Punctata 1(来自ICD-11)
别称:
Chondrodysplasia Punctata 1, X-Linked
Arylsulfatase E Deficiency
X-Linked Recessive Chondrodysplasia Punctata 1
Brachytelephalangic Chondrodysplasia Punctata
Chondrodystrophia Calcificans Congenita
Cdpx1
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X-Linked Chondrodysplasia Punctata 1, also known as chondrodysplasia punctata 1, x-linked, is related to chondrodysplasia punctata syndrome and chondrodysplasia punctata 2, x-linked dominant. An important gene associated with X-Linked Chondrodysplasia Punctata 1 is ARSL (Arylsulfatase L), and among its related pathways/superpathways is Metabolism. Affiliated tissues include spinal cord and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Reduced mammosphere formation
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相关ID:
MESH:C580533

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MALACARDS
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