loading...| Preferred Name |
hereditary elliptocytosis |
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| Synonyms |
hereditary ovalocytosis HE ovalocytosis congenital elliptocytosis |
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| Definitions |
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017319 |
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| altLabel |
hereditary ovalocytosis HE ovalocytosis congenital elliptocytosis |
|
| definition |
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. |
|
| has_exact_synonym |
hereditary ovalocytosis HE ovalocytosis congenital elliptocytosis |
|
| label |
hereditary elliptocytosis |
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| prefixIRI |
MONDO:0017319 |
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| prefLabel |
hereditary elliptocytosis |
|
| textual definition |
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. |
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| subClassOf |