Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD)

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects(来自ICD-11)
别称:
Child Syndrome
Child Nevus
Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs
Congenital Hemidysplasia with Ichthyosiform Nevus and Limbs Defects
Child
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Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects, also known as child syndrome, is related to greenberg dysplasia and smith-lemli-opitz syndrome. An important gene associated with Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. The drugs Insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are congenital ichthyosiform erythroderma and epiphyseal stippling
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MALACARDS
XL
XLR
Newborn
<1/1000000
16
99
15

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