Jump to:
loading...| Preferred Name |
Carnitine palmitoyl transferase 1A deficiency |
| Synonyms |
CPT 1A Deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C535588 |
| altLabel |
CPT 1A Deficiency CPT I Deficiency CPT Deficiency, Hepatic, Type I Carnitine palmitoyltransferase 1 deficiency Hepatic carnitine palmitoyltransferase 1 deficiency Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase IA Deficiency Liver Form of Carnitine Palmitoyltransferase Deficiency |
| cui |
C1829703 |
| Has mapping qualifier | |
| HM |
D002334/Q000172 D008052 D007003 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D002334 |
| MDA |
20100825 |
| MeSH Frequency |
13 |
| MMR |
20131024 |
| notation |
C535588 |
| prefLabel |
Carnitine palmitoyl transferase 1A deficiency |
| SC |
3 |
| TERMUI |
T845251 T736599 T736596 T826509 T736595 T826511 T826510 T841076 T801569 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
Create New Mapping