autosomal recessive congenital ichthyosis
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:skin |
| 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 |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive congenital ichthyosis
|