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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:0000520 | Proptosis |
| HP:0000545 | Myopia |
| HP:0000557 | Buphthalmos |
| HP:0000567 | Chorioretinal coloboma |
| HP:0000670 | Carious teeth |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0000873 | Diabetes insipidus |
| HP:0000896 | Rib exostoses |
| HP:0000995 | Melanocytic nevus |
| HP:0001000 | Abnormality of skin pigmentation |
