Fanconi anemia complementation group C

Summary

DOID:0111087 - Fanconi anemia complementation group C

Disease Ontology Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22.

Synonyms: FA3, FACC, FANCC, Fanconi pancytopenia type 3

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fancc

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009213 - pharyngeal membrane of 1st arch

MONDO:0009213 - pharyngeal membrane of 1st arch

MIM:

MIM:227645 - FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

MIM:227645 - FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Fanconi anemia (is_a)