| Metadata | |
|---|---|
| ID | DOID:0111822 |
| Name | CHILD syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/7408908 |
| Xrefs |
SNOMEDCT_US_2023_03_01:17608003 |
| Subsets |
DO_rare_slim |
| Synonyms |
CHILD nevus [EXACT] congenital hemidysplasia with ichthyosiform nevus and limbs defects [EXACT] |
| Parent Relationships |
is_a syndrome |