loading...| Preferred Name |
Sickle Cell Disease |
|
| Synonyms |
|
|
| Definitions |
Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or double heterozygosity for the sickle gene and another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations. |
|
| ID |
http://purl.obolibrary.org/obo/HIO_0000294 |
|
| description |
Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or double heterozygosity for the sickle gene and another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations. |
|
| created_by |
Jade Hotchkiss |
|
| creation_date |
2019-08-02T09:42:04.30967Z |
|
| database cross reference |
SCDO:1000106 |
|
| definition source | ||
| existence in other ontologies |
Sufficient |
|
| label |
Sickle Cell Disease |
|
| prefixIRI |
HIO:0000294 |
|
| prefLabel |
Sickle Cell Disease |
|
| subClassOf |