Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Summary
- Synonym
-
- AEC syndrome
- Hay-Wells syndrome
- ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
- Definition
- An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.
- Super Class
- autosomal dominant disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0090119
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 308 | ANXA5 | annexin A5 | |
| 952 | CD38 | CD38 molecule | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6440 | SFTPC | surfactant protein C | |
| 64083 | GOLPH3 | golgi phosphoprotein 3 |
Related Glycoprotein
