National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Fanconi Anemia, Complementation Group D2

Synonyms

Fanconi Anemia, Complementation Group D2

Definitions

Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125706

code

C125706

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.

FULL_SYN

Fanconi Anemia, Complementation Group D2

label

Fanconi Anemia, Complementation Group D2

Preferred_Name

Fanconi Anemia, Complementation Group D2

prefixIRI

Thesaurus:C125706

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C86549

Semantic_Type

Disease or Syndrome

UMLS_CUI

C3160738

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62505

Delete Subject Author Type Created
No notes to display