Disease Term Disease ID Gene Symbol Classification References Source
CAFE AU LAIT SPOTS MACULES WITH PULMONARY STENOSIS
NF1 Unknown ClinVar
CAFE AU LAIT SPOTS, MULTIPLE NF1 Causal Disgenet
LZTR1 Unknown Disgenet
SOS1 Unknown Disgenet
CAFE-AU-LAIT MACULES WITH PULMONARY STENOSIS NF1 Causal Disgenet
CAFE-AU-LAIT SPOTS GNAS Unknown CTD
PMS2 Unknown CTD
SPRED1 Unknown CTD