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hypohidrotic ectodermal dysplasia
Summary
- Definition
- An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
- Super Class
- ectodermal dysplasia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 952 | CD38 | CD38 molecule | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 4069 | LYZ | lysozyme | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 64083 | GOLPH3 | golgi phosphoprotein 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P61626 | Lysozyme C | |
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q9NRA2 | Sialin | |
| Q9UBM7 | 7-dehydrocholesterol reductase |
