Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:associatedWith |
gptkb:SLX4
|
| gptkbp:characterizedBy |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2011
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type P
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
16p13.3
|
| gptkbp:mutationAssociatedWith |
gptkb:SLX4_gene
|
| gptkbp:OMIM |
613951
|
| gptkbp:subclassOf |
gptkb:Fanconi_anemia
|
| gptkbp:symptom |
short stature
developmental delay microcephaly renal anomalies skeletal anomalies skin pigmentation abnormalities thumb anomalies hematological abnormalities |
| gptkbp:treatment |
supportive care
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_complementation_group_P
|
| gptkbp:bfsLayer |
7
|