Fanconi anemia, complementation group C
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:associatedWith |
gptkb:FANCC
|
| gptkbp:diagnosedBy |
chromosome breakage test
|
| gptkbp:firstDescribed |
1992
|
| gptkbp:hasPhenotype |
short stature
skeletal anomalies skin pigmentation abnormalities |
| gptkbp:ICD-10_code |
D61.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
9q22.3
|
| gptkbp:mutationAssociatedWith |
gptkb:FANCC_gene
|
| gptkbp:OMIM |
227645
|
| gptkbp:partOf |
gptkb:Fanconi_anemia
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
chromosomal instability
DNA repair defect |
| gptkbp:symptom |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:treatment |
blood transfusion
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:FANCC
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia, complementation group C
|