Hyperammonemia

Disease Term Disease ID Gene Symbol Classification References Source
HYPERAMMONEMIA
C0220994MESH:D022124
OTC Causal
10227223 11286510 19669271 20406775 6825366 8424807 8562862 8581365 8778603 9598692
Disgenet
CPS1 Unknown
17310273 8486760
CTD
GLUD1 Unknown
9571255
CTD
NAGS Unknown
12594532 12754705 17703373
Disgenet
TLR5 Unknown
30508503
Disgenet
TYMS Unknown
20714149
Disgenet
HYPERAMMONEMIA DUE TO CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY
C4082171
ABCA3 Unknown — Disgenet
CPS1 Unknown — Disgenet
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
927MONDO:0009377
NAGS Unknown
12754705 12594532 20301316
ClinGen GWAS catalog Orphanet