Disease Term Disease ID Gene Symbol Classification References Source
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma C1866029 POMP Causal Pathogenic evidence from ClinVar 20226437, 27503413 ClinVar
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 281201 POMP Causal Pathogenic evidence from ClinVar - ClinVar