loading...| Preferred Name |
Hemoglobin C Disease |
|
| Synonyms |
|
|
| Definitions |
An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C34675 |
|
| ALT_DEFINITION |
An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic. |
|
| code |
C34675 |
|
| Contributing_Source |
NICHD |
|
| definition |
An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice. |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C89506 |
|
| label |
Hemoglobin C Disease |
|
| Legacy Concept Name |
Hemoglobin_C_Disease |
|
| Preferred_Name |
Hemoglobin C Disease |
|
| prefixIRI |
NCIT:C34675 |
|
| prefLabel |
Hemoglobin C Disease |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0019021 |
|
| subClassOf |