Disease: Ichthyosis Congenita I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		0.300 Biomarker disease CTD_human Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. 16675967 2006