Preferred Name |
Hereditary Elliptocytosis |
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Synonyms |
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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://purl.obolibrary.org/obo/NCIT_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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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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in_subset | ||
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 |
NCIT:C35882 |
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prefLabel |
Hereditary Elliptocytosis |
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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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