Fanconi anemia, complementation group E
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:FANCE
|
| gptkbp:characterizedBy |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:firstDescribed |
1997
|
| gptkbp:hasOrphanetID |
ORPHA:84
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia, complementation group E
|
| gptkbp:ICD-10_code |
D61.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:6p21
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCE_gene
|
| gptkbp:OMIM |
600901
|
| gptkbp:partOf |
gptkb:Fanconi_anemia
|
| gptkbp:symptom |
short stature
developmental delay pancytopenia skeletal anomalies |
| gptkbp:treatment |
blood transfusion
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:FANCE
|
| gptkbp:bfsLayer |
6
|