nonsyndromic congenital nail disorder 3

Summary
Definition
A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.
Super Class
autosomal dominant disease autosomal recessive disease nonsyndromic congenital nail disorder
External Links
Disease Ontology
DOID:0080081
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5333 PLCD1 phospholipase C delta 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51178 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0000787 Nephrolithiasis
HP:0009720 Adenoma sebaceum
HP:0000499 Abnormal eyelash morphology
HP:0005978 Type II diabetes mellitus
HP:0000498 Blepharitis
HP:0001231 Abnormal fingernail morphology
HP:0008388 Abnormal toenail morphology
HP:0000613 Photophobia
HP:0001598 Concave nail
HP:0000007 Autosomal recessive inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
5333 PLCD1 phospholipase C delta 1

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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