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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
holoprosencephaly
Summary
- Synonym
-
- Holoprosencephaly sequence
- Definition
- A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
- Super Class
- congenital nervous system abnormality syndrome
External Links
- Disease Ontology
- DOID:4621
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 2218 | FKTN | fukutin | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4047 | LSS | lanosterol synthase | |
| 7841 | MOGS | mannosyl-oligosaccharide glucosidase | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NCR0 | UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
