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loading...| Preferred Name |
Lysinuric Protein Intolerance |
| Synonyms |
Hyperdibasic Aminoaciduria |
| ID |
http://purl.bioontology.org/ontology/MESH/C562687 |
| altLabel |
Hyperdibasic Aminoaciduria LPI - Lysinuric Protein Intolerance Dibasic Amino Aciduria II |
| cui |
C0268647 |
| HM |
D000592 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
34 |
| MMR |
20131024 |
| notation |
C562687 |
| prefLabel |
Lysinuric Protein Intolerance |
| SC |
3 |
| Scope Statement |
mutations in SLC7A7 |
| TERMUI |
T841941 T801281 T845956 T827481 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |
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