Fanconi anemia
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
MONDO:0018234
dysostosis
excluded_subClassOf
MONDO:0019289
hyperpigmentation of the skin
excluded_subClassOf
MONDO:0100137
telomere syndrome
excluded_subClassOf
MONDO:0000577
congenital anemia
is_a
MONDO:0001713
inherited aplastic anemia
is_a
MONDO:0003225
bone marrow disorder
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0021190
DNA repair disease
is_a
Fanconi anemia
exact
Fanconi pancytopenia
exact
Fanconi's anemia
exact
Panmyelopathy, Fanconi
exact
pancytopenia, congenital
exact
primary erythroid hypoplasia
exact
SPCC576.12c SPAC3C7.03c SPBC2D10.16 SPCC970.01 SPAC688.06c SPBC1685.11 SPBC12D12.09 SPAC644.14c