Preferred Label : FANCA Biallelic Inactivation;
NCIt synonyms : FAH Biallelic Gene Inactivation; Fanconi Anemia, Complementation Group H Biallelic Gene Inactivation; FANCA Biallelic Gene Inactivation; Fanconi Anemia, Type 1 Biallelic Gene Inactivation; FA1 Biallelic Gene Inactivation; FA-H Biallelic Gene Inactivation; FANCH Biallelic Gene Inactivation; FACA Biallelic Gene Inactivation; FA Biallelic Gene Inactivation; Fanconi Anemia Complementation Group A Biallelic Gene Inactivation; FAA Biallelic Gene Inactivation; Fanconi Anemia, Complementation Group A Biallelic Gene Inactivation;
NCIt definition : The presence of mutations in both alleles of the FANCA gene that either lead to loss
of expression of the FANCA protein or result in the translation of an inactive FANCA
protein.;
NCI Metathesaurus CUI : CL552335;
Origin ID : C150583;
UMLS CUI : C4725850;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
