Bloom Syndrome
Disease ID: disease_node_1624
Connections displayed (default: 10).
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| Dbxref | MESH:D001816, MIM:210900, NCI:C2903, ORDO:125, SNOMEDCT_US_2023_03_01:4434006, UMLS_CUI:C0005859 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Bloom-Torre-Machacek syndrome, Congenital Telangiectatic Erythema syndrome |
| Mesh Id | D001816 |
| Mesh Label | Bloom Syndrome |
| Mesh Subclassof | D000015, D000081207, D049914 |
| Doid Label | Bloom syndrome |
| Doid Description | A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_1624 |
| Doid Id | DOID_2717 |
| Label | Bloom Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)