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DOID:0111822 - CHILD syndrome
Disease Ontology 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.
Synonyms: CHILD nevus, congenital hemidysplasia with ichthyosiform nevus and limbs defects
Xenbase Genes
:
nsdhl
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)