DISEASES

Disease-gene associations mined from literature

Human genes for bloom syndrome

Bloom syndrome [DOID:2717]

Bloom's syndrome (BLM), also known as Bloom–Torre–Machacek syndrome,:575 is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr. David Bloom in 1954.

Synonyms:  bloom syndrome,  DOID:2717,  bloom disease,  bloom disorder,  Bloom-Torre-Machacek syndrome ...