CHILD syndrome

Term ID

DOID:0111822

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. https://www.ncbi.nlm.nih.gov/pubmed/7408908

References

• GARD:6039
• MESH:C562515
• OMIM:308050
• ORDO:139
• SNOMEDCT_US_2023_03_01:17608003
• UMLS_CUI:C0265267

Ontology

Human Disease   ( DOID:0111822 )