Bloom Syndrome
| Disease Aliases (19) | Blm Bls Bs Bs - bloom syndrome Bsyn Bloom torre machacek syndrome Bloom syndrome; blm Bloom's syndrome Bloom's syndromes Bloom-torre-machacek syndrome Congenital telangiectatic erythema Congenital telangiectatic erythema syndrome Congenital telangiectatic erythemas Erythema, congenital telangiectatic Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability Mgrisce1 Microcephaly, growth restriction, and increased sister chromatid exchange 1 Telangiectatic erythema, congenital |
Associated Genes (1) NCBI-RefSeq: BLM (BLM RecQ like helicase) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Bloom syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |