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Standards Ontologies Notations
sickle cell anemia

Summary
Synonym
  • Hb SC disease
  • Hb-S/Hb-C disease
  • Hb-SS disease without crisis
  • Hemoglobin S disease without crisis
  • Sickle-cell/Hb-C disease without crisis
  • drepanocytosis
  • haemoglobin SC disease
  • hemoglobin SC disease
  • sickle cell anaemia
Definition
A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
Super Class
autosomal recessive disease blood protein disease
External Links
Disease Ontology
DOID:10923
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 61 - 69 of 69 in total
Gene ID Gene Symbol Description Source
54579 UGT1A5 UDP glucuronosyltransferase family 1 member A5
54600 UGT1A9 UDP glucuronosyltransferase family 1 member A9
54657 UGT1A4 UDP glucuronosyltransferase family 1 member A4
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
54659 UGT1A3 UDP glucuronosyltransferase family 1 member A3
56886 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
79888 LPCAT1 lysophosphatidylcholine acyltransferase 1
79966 SCD5 stearoyl-CoA desaturase 5
114805 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13
Displaying all 3 entries
Gene ID Gene Symbol Description Source
15275 Hk1 hexokinase 1
18654 Pgf placental growth factor
21926 Tnf tumor necrosis factor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25058 Hk1 hexokinase 1
94203 Pgf placental growth factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
43191 Hex-t2 Hexokinase testis 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850614 HXK1 hexokinase 1
852639 HXK2 hexokinase 2
Related Glycoprotein
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Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024