isolated anhidrosis with normal sweat glands

Summary
Synonym
  • Dann-Epstein-Sohar syndrome
Definition
An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.
Super Class
anhidrosis
Disease Ontology
DOID:0060603
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3709 ITPR2 inositol 1,4,5-trisphosphate receptor type 2

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024