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Proteus syndrome
Summary
- Synonym
-
- Wiedemann's syndrome
- Definition
- A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
- Super Class
- PTEN hamartoma tumor syndrome
External Links
- Disease Ontology
- DOID:13482
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 207 | AKT1 | AKT serine/threonine kinase 1 | |
| 2719 | GPC3 | glypican 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6401 | SELE | selectin E | |
| 6403 | SELP | selectin P |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000040 | Long penis |
| HP:0000053 | Macroorchidism |
| HP:0000105 | Enlarged kidney |
| HP:0000107 | Renal cyst |
| HP:0000194 | Open mouth |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000276 | Long face |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
