Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
0.410 Biomarker disease CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
0.410 GeneticVariation disease BEFREE The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. 12186468 2002
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
0.410 Biomarker disease CTD_human FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
0.410 Biomarker disease CTD_human FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
0.410 Biomarker disease HPO