| Preferred Name |
Saccharopinuria |
| Synonyms |
Saccharopine dehydrogenase deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C537218 |
| altLabel |
Saccharopine dehydrogenase deficiency Alpha-aminoadipic semialdehyde synthase deficiency |
| cui |
C2936921 |
| Has mapping qualifier | |
| HM |
D020167 D012443/Q000172 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
1 |
| MMR |
20131106 |
| notation |
C537218 |
| prefLabel |
Saccharopinuria |
| SC |
3 |
| TERMUI |
T741854 T741853 T741855 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/268700 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/MTHU041960 | Online Mendelian Inheritance in Man | CUI |