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Standards Ontologies Notations
hereditary spherocytosis

Summary
Synonym
  • Congenital spherocytic hemolytic anemia
  • Minkowski Chauffard syndrome
  • spherocytic anemia
Definition
A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
Super Class
congenital hemolytic anemia
Disease Ontology
DOID:12971
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
286 ANK1 ankyrin 1
2038 EPB42 erythrocyte membrane protein band 4.2
6521 SLC4A1 solute carrier family 4 member 1 (Diego blood group)
6708 SPTA1 spectrin alpha, erythrocytic 1
6710 SPTB spectrin beta, erythrocytic
Displaying all 2 entries
Gene ID Gene Symbol Description Source
20533 Slc4a1 solute carrier family 4 (anion exchanger), member 1
20739 Spta1 spectrin alpha, erythrocytic 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24779 Slc4a1 solute carrier family 4 member 1 (Diego blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
180943 abts-4 Anion exchange protein
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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