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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:0000445 | Wide nose |
| HP:0002119 | Ventriculomegaly |
| HP:0000218 | High palate |
| HP:0001263 | Global developmental delay |
| HP:0000098 | Tall stature |
| HP:0002007 | Frontal bossing |
| HP:0000348 | High forehead |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000023 | Inguinal hernia |
