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
Displaying all 5 entries
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024