Statements (55)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:anemia
|
| gptkbp:associated_with |
gptkb:anemia
increased cancer risk developmental delays thrombocytopenia solid tumors neutropenia bone marrow failure increased risk of leukemia |
| gptkbp:breeding_range |
X chromosome
|
| gptkbp:caused_by |
FANCB gene mutation
|
| gptkbp:clinical_trial |
ongoing research
stem cell research gene therapy trials new drug trials renal anomalies immunotherapy trials congenital anomalies immune deficiency pancytopenia |
| gptkbp:condition |
other types of Fanconi anemia
|
| gptkbp:diagnosis |
variable outcomes
chromosomal breakage test |
| gptkbp:discovered_by |
Fanconi
|
| gptkbp:first_described_by |
gptkb:1952
|
| gptkbp:genetic_studies |
available
prenatal testing diagnostic tool carrier testing |
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type B
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:is_involved_in |
available
online communities patient advocacy organizations family support networks |
| gptkbp:prevalence |
rare disorder
|
| gptkbp:public_awareness |
gptkb:educational_resources
gptkb:fundraising_events community outreach programs ongoing efforts research funding initiatives |
| gptkbp:research_focus |
gptkb:gene_therapy
understanding pathophysiology new treatment options |
| gptkbp:risk_factor |
radiation exposure
family history exposure to certain chemicals |
| gptkbp:symptoms |
short stature
skeletal abnormalities hypopigmentation |
| gptkbp:treatment |
supportive care
bone marrow transplant androgen therapy |
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_type_C
|
| gptkbp:bfsLayer |
7
|