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Repository for lectin-assisted multimodality data
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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P31749 | RAC-alpha serine/threonine-protein kinase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P31750 | RAC-alpha serine/threonine-protein kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002652 | Skeletal dysplasia |
| HP:0002664 | Neoplasm |
| HP:0002719 | Recurrent infections |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0002858 | Meningioma |
| HP:0003019 | Abnormality of the wrist |
| HP:0003199 | Decreased muscle mass |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0003715 | Myofibrillar myopathy |
