hereditary spherocytosis
Information
- Disease name
- hereditary spherocytosis
- Disease ID
- DOID:12971
- Description
- "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape." [url:http\://en.wikipedia.org/wiki/Hereditary_spherocytosis, url:https\://research.nhgri.nih.gov/RBCmembrane/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04451785 | Completed | N/A | Hereditary Spherocytosis and Vascular Function | August 26, 2020 | August 26, 2022 |
| NCT01141621 | Terminated | The Dallas Hereditary Spherocytosis Cohort Study | May 2010 | May 2013 | |
| NCT01276561 | Withdrawn | N/A | Single Incision Versus Standard Laparoscopic Splenectomy | October 2009 | April 2017 |
- Disase is a (Disease Ontology)
- DOID:589
- Cross Reference ID (Disease Ontology)
- GARD:6639
- Cross Reference ID (Disease Ontology)
- ICD10CM:D58.0
- Cross Reference ID (Disease Ontology)
- ICD9CM:282.0
- Cross Reference ID (Disease Ontology)
- MESH:D013103
- Cross Reference ID (Disease Ontology)
- NCI:C97074
- Cross Reference ID (Disease Ontology)
- ORDO:822
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:154795009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0037889
- Exact Synonym (Disease Ontology)
- Congenital spherocytic hemolytic anemia
- Exact Synonym (Disease Ontology)
- Minkowski Chauffard syndrome
- Exact Synonym (Disease Ontology)
- spherocytic anemia
- OrphaNumber from OrphaNet (Orphanet)
- 822
- ICD10 preferred id (Insert disease from ICD10)
- D0003201
- ICD10 class code (Insert disease from ICD10)
- D58.0