Preferred Label : Hemoglobin Beta Homozygous Null Genotype;
NCIt synonyms : B0/B0; (B0/B0); HBB Homozygous Null Genotype; HBB Null Genotype;
NCIt related terms : beta-globin genotype (B0/B0);
NCIt definition : A genetic finding indicating that both copies of chromosome 16 each have a copy of
the hemoglobin beta gene (HBB) with loss of function or gene deletion mutations (B0).
This genotype is associated with beta thalassemia major.;
NCI Metathesaurus CUI : CL1773720;
Origin ID : C185533;
UMLS CUI : C5669976;
Semantic type(s)
- is_finding_of_disease
- related_to_genetic_biomarker
