uridine monophosphate synthetase
| GO Term | Evidence Code | PMID |
|---|---|---|
| 'de novo' pyrimidine nucleobase biosynthetic process | ||
| UMP biosynthetic process | ||
| UMP biosynthetic process | ||
| UDP biosynthetic process | ||
| female pregnancy |
| GO Term | Evidence Code | PMID |
|---|---|---|
| orotate phosphoribosyltransferase activity | ||
| orotate phosphoribosyltransferase activity | ||
| orotidine-5'-phosphate decarboxylase activity | ||
| orotidine-5'-phosphate decarboxylase activity | ||
| protein binding |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050833 | orotic aciduria | |
| DOID:653 | purine-pyrimidine metabolic disorder |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000069 | Abnormality of the ureter |
| HP:0000316 | Hypertelorism |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000790 | Hematuria |
| HP:0001263 | Global developmental delay |
| HP:0001385 | Hip dysplasia |
| HP:0001508 | Failure to thrive |
| Disease ID | Disease Name |
|---|---|
| ORPHA:30 |
|
| OMIM:258900 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 6, 2026