Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
0.100 GeneticVariation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
0.100 Biomarker phenotype HPO