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nonsyndromic congenital nail disorder 9
Summary
- Definition
- A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails.
- Super Class
- autosomal recessive disease nonsyndromic congenital nail disorder
External Links
- Disease Ontology
- DOID:0080087
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 2719 | GPC3 | glypican 3 | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8985 | PLOD3 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | |
| 10195 | ALG3 | ALG3 alpha-1,3- mannosyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60568 | Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 | |
| O60762 | Dolichol-phosphate mannosyltransferase subunit 1 | |
| P51654 | Glypican-3 | |
| Q93063 | Exostosin-2 |
