Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
0.110 Biomarker disease BEFREE A survey of the clinical consequences of these defects indicates that defects in the acyl-CoA oxidase and D-BP can produce neonatal hypotonia, seizures in early infancy, retinopathy and progressive neurological dysfunction with leukodystrophy on imaging. 11356171 2001
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
0.110 Biomarker disease HPO