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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
External Links
- Disease Ontology
- DOID:12971
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 54575 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 | |
| 54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
| 54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 | |
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P08174 | Complement decay-accelerating factor | |
| P11172 | Uridine 5'-monophosphate synthase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P12821 | Angiotensin-converting enzyme | |
| P19224 | UDP-glucuronosyltransferase 1-6 | |
| P19367 | Hexokinase-1 | |
| P22309 | UDP-glucuronosyltransferase 1A1 |
