Fanconi anemia complementation group D2

Fanconi anemia complementation group D2

http://purl.obolibrary.org/obo/MONDO_0009214

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. [ NCIT:C125706 ]

Synonyms: Fanconi anemia complementation group D2 Fanconi pancytopenia type 4 FANCD2 FA4 FAD2

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This is just here as a test because I lose it

Term information

database cross reference

DOID:0111083 (MONDO:equivalentTo)
GARD:15169 (OMIM:227646)
NCIT:C125706 (MONDO:equivalentTo)
UMLS:C3160738 (OMIM:227646)
OMIM:227646 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0111083

http://purl.obolibrary.org/obo/NCIT_C125706

https://omim.org/entry/227646

http://linkedlifedata.com/resource/umls/id/C3160738

has related synonym

Fanconi pancytopenia, type 4

Fanconi anemia, complementation group D2

Fad2

Fanconi Anemia, complementation group D

MONDO:0009214

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009214

Term relations

Subclass of:

Fanconi anemia