syndromic disease hematologic disorder autosomal recessive disease Bloom syndrome https://github.com/monarch-initiative/mondo/issues/6746 https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome https://www.malacards.org/card/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. BLM DOID:2717 BLS SCTID:4434006 MGRISCE1 NCIT:C2903 NANDO:2200707 UMLS:C0005859 NANDO:1200333 MONDO:0008876 microcephaly, growth restriction, and increased sister chromatid exchange 1 MEDGEN:2685 NORD:863 Bloom syndrome icd11.foundation:1838213890 OMIM:210900 congenital telangiectatic erythema congenital telangiectatic erythema syndrome ICD10CM:Q82.2 MESH:D001816 BSyn GARD:0000915 growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability Bloom-Torre-Machacek syndrome ICD9:757.39 BS Orphanet:125 hereditary photodermatosis chromosomal disorder microcephaly, growth restriction and increased sister chromatid exchange disorder of development or morphogenesis obsolete_Bloom syndrome