Statements (55)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:anemia
|
| gptkbp:associated_with |
advocacy efforts
vision problems employment challenges hearing loss increased cancer risk financial burden educational challenges developmental delays neurological issues healthcare access issues endocrine disorders gastrointestinal issues cardiovascular problems skin issues immune system issues pulmonary complications social integration issues psychosocial challenges oral health problems congenital anomalies bone marrow failure renal abnormalities support group availability |
| gptkbp:caused_by |
FANCC gene mutation
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:complication |
gptkb:Oncology
infection risk solid tumors organ dysfunction |
| gptkbp:condition |
gptkb:Fanconi_anemia_type_A
gptkb:Fanconi_anemia_type_B gptkb:Fanconi_anemia_type_D |
| gptkbp:diagnosis |
chromosomal breakage test
|
| gptkbp:discovered_by |
gptkb:Dr._Janet_D._Rowley
|
| gptkbp:first_described_by |
gptkb:1996
|
| gptkbp:genetic_studies |
available
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type C
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:lifespan |
varies by treatment
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:research_focus |
gptkb:gene_therapy
new treatment options |
| gptkbp:risk_factor |
family history
genetic predisposition ethnic background |
| gptkbp:symptoms |
short stature
skeletal abnormalities hypopigmentation |
| gptkbp:treatment |
supportive care
bone marrow transplant androgen therapy |
| gptkbp:bfsParent |
gptkb:Ashkenazi
gptkb:FANCC |
| gptkbp:bfsLayer |
6
|