Preferred Name |
Carnitine-Acylcarnitine Translocase Deficiency |
Synonyms |
Carnitine-Acylcarnitine Carrier Deficiency |
ID |
http://purl.bioontology.org/ontology/MESH/C562812 |
altLabel |
Carnitine-Acylcarnitine Carrier Deficiency Carnitine Acylcarnitine Translocase Deficiency CACT Deficiency |
cui |
C0342791 |
Has mapping qualifier | |
HM |
D002333/Q000172 D008052 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20121105 |
MeSH Frequency |
12 |
MMR |
20131024 |
notation |
C562812 |
prefLabel |
Carnitine-Acylcarnitine Translocase Deficiency |
SC |
3 |
Scope Statement |
mutation in SLC25A20 |
TERMUI |
T841074 T841073 T826377 T801573 |
TH |
OMIM (2013) GHR (2014) |
tui |
T047 |