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loading...| Preferred Name |
Hypermethioninemia |
| Synonyms |
Hepatic Methionine Adenosyltransferase Deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C564683 |
| altLabel |
Hepatic Methionine Adenosyltransferase Deficiency Deficiency of Methionine Adenosyltransferase GNMT Deficiency S-Adenosylhomocysteine Hydrolase Deficiency Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase Glycine N-Methyltransferase Deficiency Hypermethioninemia, Isolated Persistent Methionine Adenosyltransferase Deficiency Methioninemia |
| cui |
C3151058 C4048705 C0268621 C1847720 |
| Has mapping qualifier | |
| HM |
D000592 D050938/Q000172 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
22 |
| MMR |
20150818 |
| notation |
C564683 |
| prefLabel |
Hypermethioninemia |
| SC |
3 |
| Scope Statement |
mutation in GNMT, MAT1A, AHCY |
| TERMUI |
T841701 T832717 T841703 T841699 T801266 T826328 T841700 T805393 T841702 T801267 |
| TH |
OMIM (2014) ORD (2014) OMIM (2013) GHR (2014) |
| tui |
T047 |
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