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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:2717
GARD:0000915
MESH:D001816
NCIT:C2903
OMIM:210900
Orphanet:125
SCTID:4434006
UMLS:C0005859
MONDO:0008876
High level summary of knowledge for a disease, including descriptions and datasource references.