congenital nonspherocytic hemolytic anemia

Summary
Synonym
  • HNSHA
  • congenital nonspherocytic hemolytic anaemia
  • hereditary nonspherocytic hemolytic anaemia
  • hereditary nonspherocytic hemolytic anemia
Super Class
congenital hemolytic anemia
Disease Ontology
DOID:2861
Mondo Disease Ontology
MeSH
UMLS
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2539 G6PD glucose-6-phosphate dehydrogenase
2821 GPI glucose-6-phosphate isomerase
3098 HK1 hexokinase 1
5313 PKLR pyruvate kinase L/R
Displaying 1 entry
Gene ID Gene Symbol Description Source
14751 Gpi1 glucose-6-phosphate isomerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
855480 ZWF1 glucose-6-phosphate dehydrogenase
The Human Phenotype Ontology
Displaying entries 21 - 30 of 32 in total
HPO ID HPO Term
HP:0001082 Cholecystitis
HP:0010871 Sensory ataxia
HP:0003568 Decreased glucosephosphate isomerase level
HP:0011993 Impaired neutrophil bactericidal activity
HP:0001251 Ataxia
HP:0000007 Autosomal recessive inheritance
HP:0001324 Muscle weakness
HP:0005525 Spontaneous hemolytic crises
HP:0001081 Cholelithiasis
HP:0011981 Pigment gallstones
Displaying all 2 entries
Gene ID Gene Symbol Description
2539 G6PD glucose-6-phosphate dehydrogenase
2821 GPI glucose-6-phosphate isomerase

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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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