Disease Term Disease ID Gene Symbol References
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 C3888093 ALOX12B 11773004, 16116617, 19131948, 19890349, 20222929, 15629692, 26762237, 17139268
SULT2B1 28575648
ALOXE3
Ichthyosis with hypotrichosis, autosomal recessive C1835851 ST14 18445049, 17273967, 18843291
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 C4539754 SULT2B1 28575648
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 C2677065 ADAM19 24397709, 25458912, 15317751, 17557927, 26762237, 20016120, 22622417
NIPAL4 17557927, 20016120, 15317751, 25458912, 26762237, 26456858, 24397709, 22622417
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 C3539888 SEC23B 19561605, 19621418, 20015893, 21850656
ALOXE3 19890349, 19131948, 16116617, 15629692, 25998749, 11773004
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 C4539772 SDR9C7 28173123, 28369735
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 C3554349 CERS3 23549421, 23754960
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 C3554355 PNPLA1 26778108, 22246504, 28369476
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 C3553029 LIPN 21439540