Bloom syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0005570
hematologic disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015951
hereditary photodermatosis
is_a
MONDO:0019040
chromosomal disorder
is_a
MONDO:0020629
microcephaly, growth restriction and increased sister chromatid exchange
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
BLM
related
BLS
related
BS
related
BSyn
exact
Bloom syndrome
exact
Bloom-Torre-Machacek syndrome
exact
MGRISCE1
related
congenital telangiectatic erythema
related
congenital telangiectatic erythema syndrome
exact
growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
related
SPAC2G11.12