Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chromosome 17p13.3 duplication syndrome
Summary
- Synonym
-
- 17p13.3 duplication syndrome
- 17p13.3 microduplication syndrome
- chromosome 17p13.3 centromeric duplication syndrome
- trisomy 17p13.3
- Definition
- A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region.
- Super Class
- chromosomal duplication syndrome
External Links
- Disease Ontology
- DOID:0060432
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001374 | Congenital hip dislocation |
| HP:0000316 | Hypertelorism |
| HP:0003196 | Short nose |
| HP:0000470 | Short neck |
| HP:0008736 | Hypoplasia of penis |
| HP:0000369 | Low-set ears |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0000160 | Narrow mouth |
| HP:0001252 | Hypotonia |
