Disease: Acidosis, Lactic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 GeneticVariation phenotype BEFREE Careful clinical phenotyping, including for lactic acidosis, deafness, and severe muscle involvement seen in RMND1 mutation positive individuals, and MRI pattern recognition will be important in differentiating these patients from children with congenital infections like cytomegalovirus. 27843092 2017
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker phenotype BEFREE RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. 25604853 2015
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker phenotype HPO