Disease Term Disease ID Gene Symbol References
Congenital ichthyosis C0020758 ALOX12B 21739938
TGM1
ABCA12 16675967
ALOXE3 21739938
SDR9C7
PNPLA1
Collodion Fetus C3543867 ALOX12B 21739938
TGM1
ABCA12 16675967
ALOXE3 21739938
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 C4310621 CASP14