Citrin deficiency

Disease Term Disease ID Gene Symbol Classification References Source
CITRIN DEFICIENCY
C1997910MONDO:0016602
SLC25A13 Causal
10369257 10642534 11343052 11343053 11566871 14701727 18367750 18392553 19036621 21914561 24586645 31607264
ClinGen Disgenet GWAS catalog
CITRIN DEFICIENCY, ADOLESCENT OR ADULT ONSET
603471
SLC25A13 Unknown — HPO
CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET
605814
SLC25A13 Unknown — HPO