DISEASE: Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
Entry
H00496 Disease
Name
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
Description
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06034 Cholesterol biosynthesis
H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
