Mondo Description 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.
Uniprot Description An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.
Disease Ontology Description An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Mondo Term and Equivalent IDs
MONDO:0008876: Bloom syndrome