FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bloom syndrome ID (Ontology) DOID:2717 (Human Disease)
Definition A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Also Known As "Bloom-Torre-Machacek syndrome" ; "Congenital Telangiectatic Erythema syndrome"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      11
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Bloom syndrome      11      5      1
 ameliorates | Bloom syndrome       3       --       --
 exacerbates | Bloom syndrome       1       --       --
 for disease ribbon | Bloom syndrome       --       1       --
 model of | Bloom syndrome       7      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Bloom syndrome  17 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Bloom-Torre-Machacek syndrome" EXACT
    "Congenital Telangiectatic Erythema syndrome" EXACT
Secondary IDs
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MESH:D001816
MIM:210900
NCI:C2903
ORDO:125
SNOMEDCT_US_2023_03_01:4434006
UMLS_CUI:C0005859