Statements (47)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:anemia
|
| gptkbp:associated_with |
increased cancer risk
|
| gptkbp:caused_by |
FANCA gene mutation
|
| gptkbp:clinical_trial |
hearing loss
thrombocytopenia neutropenia skeletal abnormalities eye abnormalities renal anomalies delayed growth immune deficiency macrocytic anemia |
| gptkbp:condition |
gptkb:Oncology
solid tumors |
| gptkbp:diagnosis |
variable
response to treatment depends on severity chromosomal breakage test age at diagnosis |
| gptkbp:discovered_by |
Fanconi
|
| gptkbp:first_described_by |
gptkb:1952
|
| gptkbp:genetic_studies |
FANCA gene testing
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type A
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:registration |
gptkb:Fanconi_Anemia_Comprehensive_Care_Center
gptkb:Fanconi_Anemia_Research_Fund gptkb:National_Fanconi_Anemia_Registry Fanconi Anemia Clinical Trials Fanconi Anemia Patient Registry |
| gptkbp:research_focus |
gptkb:gene_therapy
understanding pathophysiology new treatment options patient support improving diagnosis |
| gptkbp:risk_factor |
family history
ethnic background |
| gptkbp:symptoms |
short stature
hypopigmentation congenital anomalies bone marrow failure |
| gptkbp:treatment |
supportive care
androgens bone marrow transplant |
| gptkbp:bfsParent |
gptkb:FANCA
gptkb:FANCB |
| gptkbp:bfsLayer |
6
|