loading...| Preferred Name |
Hemoglobin E Disease |
|
| Synonyms |
Hemoglobin E Disease |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35287 |
|
| 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. |
|
| code |
C35287 |
|
| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
|
| 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. |
|
| FULL_SYN |
Hemoglobin E Disease |
|
| label |
Hemoglobin E Disease |
|
| Legacy Concept Name |
Hemoglobin_E_Disease |
|
| Preferred_Name |
Hemoglobin E Disease |
|
| prefixIRI |
Thesaurus:C35287 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0238159 |
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| subClassOf |