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loading...| Preferred Name |
Hereditary Elliptocytosis |
|
| Synonyms |
Hereditary Elliptocytosis Hereditary Ovalocytosis |
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| Definitions |
An inherited blood disorder in which a large number of red blood cells have an elliptical morphology. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35882 |
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| ALT_DEFINITION |
An autosomal dominant inherited hemolytic anemia that is characterized by the presence of elongated erythrocytes. It is most commonly associated with mutations in the SPTA1 and SPTB genes, which encode alpha- and beta-spectrin respectively. |
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| code |
C35882 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
An inherited blood disorder in which a large number of red blood cells have an elliptical morphology. |
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| FULL_SYN |
Hereditary Elliptocytosis Hereditary Ovalocytosis |
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| label |
Hereditary Elliptocytosis |
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| Legacy Concept Name |
Hereditary_Elliptocytosis |
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| Preferred_Name |
Hereditary Elliptocytosis |
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| prefixIRI |
Thesaurus:C35882 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C3279659 |
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| subClassOf |
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