Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.110 GeneticVariation disease BEFREE We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis. 11409433 2001
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.110 Biomarker disease HPO