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GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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Guidelines
MIRAGE
CLOVES syndrome
Summary
- Synonym
-
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- Definition
- A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0080351
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001852 | Sandal gap |
| HP:0001528 | Hemihypertrophy |
| HP:0003577 | Congenital onset |
| HP:0001744 | Splenomegaly |
| HP:0012721 | Venous malformation |
| HP:0000465 | Webbed neck |
| HP:0004099 | Macrodactyly |
| HP:0002144 | Tethered cord |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0000089 | Renal hypoplasia |
