Disease: Coloboma of eyelid ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		0.110 GeneticVariation phenotype BEFREE A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. 23401257 2013
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		0.110 Biomarker phenotype HPO