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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C536109
http://purl.bioontology.org/ontology/MESH/C536109
|
|---|---|
| Preferred Name | N-acetyl glutamate synthetase deficiency |
| Synonyms |
Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
N-Acetylglutamate Synthase Deficiency
N-Acetylglutamate Synthetase Deficiency
NAGS Deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
N-Acetylglutamate Synthase Deficiency
N-Acetylglutamate Synthetase Deficiency
NAGS Deficiency
|
|---|---|
| prefLabel |
N-acetyl glutamate synthetase deficiency
|
| TH |
OMIM (2013)
GHR (2014)
ORD (2010)
|
| notation |
C536109
|
| MMR |
20131024
|
| MeSH Frequency |
16
|
| Semantic type UMLS property | |
| HM |
D051046
D056806
|
| Inverse of RB |
0
|
| MDA |
20100825
|
| SC |
3
|
| type | |
| Mapped to | |
| tui |
T047
|
| cui |
C0268543
|
| TERMUI |
T801241
T738271
T801239
T738270
T825394
|
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