Term Name: | CHILD syndrome |
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Synonyms: | CHILD nevus, congenital hemidysplasia with ichthyosiform nevus and limbs defects |
Definition: | A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. |
Ontology: | Human Disease [DOID:0111822] ( DOID:0111822 ) |