Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:anemia
|
| gptkbp:associated_with |
increased risk of cancer
|
| gptkbp:caused_by |
mutation in the FANCD2 gene
|
| gptkbp:characterized_by |
bone marrow failure
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:discovered_by |
gptkb:G._Fanconi
|
| gptkbp:first_described_by |
the 20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type D
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:related_to |
gptkb:Fanconi_anemia_type_E
gptkb:Fanconi_anemia_type_C gptkb:Fanconi_anemia_type_A gptkb:Fanconi_anemia_type_B |
| gptkbp:symptoms |
short stature
skeletal abnormalities hypopigmentation |
| gptkbp:treatment |
supportive care
androgens bone marrow transplant |
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_type_C
|
| gptkbp:bfsLayer |
7
|