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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chromosome 9p deletion syndrome
Summary
- Synonym
-
- 9p syndrome
- Alfi syndrome
- monosomy 9p syndrome
- Definition
- A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060732
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 275 | AMT | aminomethyltransferase | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 2731 | GLDC | glycine decarboxylase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 158326 | FREM1 | FRAS1 related extracellular matrix 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q5H8C1 | FRAS1-related extracellular matrix protein 1 |
