| Metadata | |
|---|---|
| ID | DOID:2717 |
| Name | Bloom syndrome |
| Definition | A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. https://www.ncbi.nlm.nih.gov/pubmed/9482582, http://ghr.nlm.nih.gov/condition/bloom-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/10823897, https://en.wikipedia.org/wiki/Bloom_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:4434006 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Bloom-Torre-Machacek syndrome [EXACT] Congenital Telangiectatic Erythema syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |