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 |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:4928 | intrahepatic cholangiocarcinoma | |
DOID:4947 | cholangiocarcinoma | |
DOID:5041 | esophageal cancer | |
DOID:5517 | stomach carcinoma | |
DOID:5672 | large intestine cancer | |
DOID:615 | leukopenia | |
DOID:653 | purine-pyrimidine metabolic disorder | |
DOID:684 | hepatocellular carcinoma | |
DOID:7551 | gonorrhea | |
DOID:8927 | learning disability |
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 |
---|---|---|---|
115608877 | STRHB04109 |
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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