Disease association ontology term - MONDO:0019391 - Fanconi anemia

Term summary

ID

MONDO:0019391

Name

Fanconi anemia

Ontology or CV name

Disease association

Definition

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.

Parents

• excluded_subClassOf dysostosis
• excluded_subClassOf hyperpigmentation of the skin
• excluded_subClassOf telomere syndrome
• is_a congenital anemia
• is_a inherited aplastic anemia
• is_a bone marrow disorder
• is_a multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• is_a developmental anomaly of metabolic origin
• is_a DNA repair disease

Annotation