| Term Name: | CHILD syndrome |
|---|---|
| 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 ) |