autosomal recessive congenital ichthyosis

GPTKB entity

Statements (27)
Predicate Object
gptkbp:instanceOf gptkb:skin
genetic disorder
https://www.w3.org/2000/01/rdf-schema#label autosomal recessive congenital ichthyosis
gptkbp:inheritance autosomal recessive
gptkbp:MeSH_ID D018922
gptkbp:mutationAssociatedWith gptkb:LIPN
CYP4F22
ABCA12
ALOX12B
NIPAL4
TGM1
AQP5
SLC27A4
CERS3
PNPLA1
SPINK5
gptkbp:OMIM 242300
gptkbp:onset congenital
gptkbp:prevalence rare
gptkbp:symptom scaly skin
dry skin
thickened skin
gptkbp:treatment retinoids
emollients
keratolytics
gptkbp:bfsParent gptkb:LIPK
gptkbp:bfsLayer 7