Encephalocraniocutaneous lipomatosis

Disease Term Disease ID Gene Symbol Classification References Source
ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
2396613001C0406612MESH:C535736MONDO:0013074
FGFR1 Causal
26942290
CTD ClinVar Disgenet GWAS catalog HPO Orphanet
KRAS Causal
26970110
Disgenet Orphanet