Fanconi anemia, complementation group S
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:alsoKnownAs |
gptkb:FANCS-related_Fanconi_anemia
|
| gptkbp:associatedWith |
gptkb:FANCS_gene
|
| gptkbp:characterizedBy |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:firstDescribed |
2015
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:BRCA1_gene
|
| gptkbp:OMIM |
617883
|
| gptkbp:partOf |
gptkb:Fanconi_anemia_complementation_groups
|
| gptkbp:relatedTo |
DNA repair defect
|
| gptkbp:symptom |
short stature
developmental delay pancytopenia |
| gptkbp:bfsParent |
gptkb:FANCS
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia, complementation group S
|