Fanconi anemia
cv_term_accession
KW-0923
canonical
uniprot_keyword
KW-0923
canonical
name
Fanconi anemia
uniprot
synonym
Fanconi pancytopenia
uniprot
definition
Protein which, if defective, causes Fanconi anemia. Fanconi anemia is a rare recessive disorder characterized by progressive pancytopenia, hypoplasia of the bone marrow and patchy brown discoloration of the skin, due to melanin deposition. It is associated with multiple congenital anomalies of the musculoskeletal and genitourinary systems.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords