Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/603903
http://purl.bioontology.org/ontology/OMIM/603903
|
|---|---|
| Preferred Name | SICKLE CELL DISEASE |
| Synonyms |
SICKLE CELL ANEMIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SICKLE CELL ANEMIA
|
|---|---|
| prefLabel |
SICKLE CELL DISEASE
|
| Gene Symbol |
ECYT6
HBB
|
| notation |
603903
|
| Scope Statement |
Presence of comorbid alpha-thalassemia may have beneficial effects [MISCELLANEOUS]
Caused by mutation in the hemoglobin beta gene (HBB, 141900.0243) [MOLECULAR BASIS]
Persistence of fetal hemoglobin can ameliorate many disease aspects [MISCELLANEOUS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
11p15.5
|
| tui |
T047
|
| cui |
C0002895
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |