beta-thalassemia major

Summary
Synonym
  • Cooley's anemia
Definition
A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age.
Super Class
beta thalassemia
Disease Ontology
DOID:0080771
Mondo Disease Ontology
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5444 PON1 paraoxonase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18979 Pon1 paraoxonase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84024 Pon1 paraoxonase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
447803 pon1 paraoxonase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
448598 pon2 paraoxonase 2 Xenopus tropicalis (tropical clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
171999 poml-2 Arylesterase
187297 poml-1 PON (paraoxonase) and MEC-6 Like

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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: December 9, 2024