hereditary spherocytosis type 3

Summary
Synonym
  • HS3
  • SPH3
  • hereditary spherocytosis 3
Definition
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1.
Super Class
autosomal recessive disease hereditary spherocytosis
External Links
Disease Ontology
DOID:0110918
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6708 SPTA1 spectrin alpha, erythrocytic 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
20739 Spta1 spectrin alpha, erythrocytic 1

About Release Notes Help Feedback

International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024