GO Term | Evidence Code | PMID |
---|---|---|
'de novo' pyrimidine nucleobase biosynthetic process | ||
cellular response to xenobiotic stimulus | ||
female pregnancy |
GO Term | Evidence Code | PMID |
---|---|---|
orotidine-5'-phosphate decarboxylase activity | ||
orotate phosphoribosyltransferase activity | ||
identical protein binding |
|
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 |
---|---|
OMIM:258900 |
|
ORPHA:30 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101975454 | ICTTR15528 | ||
101610688 | JACJA23895 | ||
118320529 | SCOMX06549 | ||
102441945 | MYOLU07522 | ||
117013124 | RHIFE06350 | ||
100229392 | TAEGU28050 | ||
103228151 | CHLSB10657 | ||
108517421 | RHIBE16374 | ||
104655401 | RHIRO16732 | ||
100583986 | NOMLE19806 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024