Disease: Ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis 		0.120 GeneticVariation disease BEFREE Classical SCS associated with a TWIST 1 mutation could be separated phenotypically from the Muenke phenotype on the basis of the following features: low-set frontal hairline, gross ptosis of eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and hallux valgus or broad great toe with bifid distal phalanx. 16251895 2006
CUI: C0033377
Disease: Ptosis
Ptosis 		0.120 GeneticVariation disease BEFREE Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. 8988167 1997
CUI: C0033377
Disease: Ptosis
Ptosis 		0.120 Biomarker disease HPO