Disease association ontology term - MONDO:0008876 - Bloom syndrome

Term summary

ID

MONDO:0008876

Name

Bloom syndrome

Ontology or CV name

Disease association

Definition

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

Parents

• is_a syndromic disease
• is_a hematologic disorder
• is_a autosomal recessive disease
• is_a hereditary photodermatosis
• is_a chromosomal disorder
• is_a microcephaly, growth restriction and increased sister chromatid exchange
• is_a disorder of development or morphogenesis

Annotation