loading...| Preferred Name |
Hemoglobin E Disease |
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| Synonyms |
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| Definitions |
A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin E), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C35287 |
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| ALT_DEFINITION |
An autosomal recessive disorder resulting from the production of hemoglobin E, secondary to an amino acid substitution of lysine for glutamic acid in the twenty-sixth position of the beta chain (E26K), and characterized by mild hemolytic anemia and possible splenomegaly. |
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| code |
C35287 |
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| Contributing_Source |
NICHD |
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| definition |
A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin E), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. |
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| in_subset | ||
| label |
Hemoglobin E Disease |
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| Legacy Concept Name |
Hemoglobin_E_Disease |
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| Preferred_Name |
Hemoglobin E Disease |
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| prefixIRI |
NCIT:C35287 |
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| prefLabel |
Hemoglobin E Disease |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0238159 |
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| subClassOf |