Fanconi anemia complementation group C

Fanconi anemia complementation group C

http://purl.obolibrary.org/obo/MONDO_0009213

Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. [ NCIT:C125704 ]

Synonyms: Fanconi anaemia complementation group type C Fanconi pancytopenia type 3 Fanconi Anemia, complementation group type C Fanconi anemia complementation group type C FA3 FANCC FACC Fanconi anemia complementation group C

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C3468041 (OMIM:227645)
GARD:15168 (OMIM:227645)
OMIM:227645 (MONDO:equivalentTo)
NCIT:C125704 (MONDO:equivalentTo)
DOID:0111087 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/NCIT_C125704

http://linkedlifedata.com/resource/umls/id/C3468041

http://purl.obolibrary.org/obo/DOID_0111087

https://omim.org/entry/227645

has related synonym

Fanconi anemia, complementation group C

facc

Fanconi pancytopenia, type 3

MONDO:0009213

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009213

Term relations

Subclass of:

Fanconi anemia