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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:0005595 | Generalized hyperkeratosis |
| HP:0005916 | Abnormal metacarpal morphology |
| HP:0006101 | Finger syndactyly |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution |
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0007818 | Central heterochromia |
| HP:0007899 | Retinal nonattachment |
