Sickle Cell Disease Ontology Project

Hemoglobin Genotype S/Beta Zero Thalassaemia

http://scdontology.h3abionet.org/ontology/SCDO_1000067

When one beta-globin gene carries the hemoglobin S mutation (beta6Glu>Val) whereas the other carries a null mutation, called beta-zero, because of the resulting inability to synthesize any beta-globin chain.

Term info

curator note

Request inclusion into relevant ontology

definition source

https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia#ref_8020

existence in other ontologies

None

S/Beta-Zero-Thal Genotype, S/Beta-Zero-Thalassaemia Genotype, S/Beta-Zero-Thalassemia

Term relations

Subclass of:

Hemoglobin Genotype S/Beta Thalassemia

Related from:

Beta-Zero Thalassemia Mutation
HBB, GLU6VAL

Sickle Cell Disease-S Beta Zero Thalassemia