Sickle Cell Disease Ontology Project

Alpha-Globin Locus Deletion

http://scdontology.h3abionet.org/ontology/SCDO_0001386

A deletion in or of the HBA1 or HBA2 gene that can result in some form of alpha thalassemia.

Term info

curator note

Request inclusion into relevant ontology, Still need to add one sub-class: the complete deletion of the HBA1 and HBA2 genes on one chromosome 16, combined with a defect (deletional or nondeletional) in either the HBA1 or HBA2 gene on the other chromosome 16, leaving one functioning gene present (https://www.snpedia.com/index.php/Alpha_Thalassemia)

dc:creator

SCDO (Clair Ingram)

existence in other ontologies

None

HBA Locus Deletion, Alpha-Globin Gene Cluster Deletion, Alpha-Globin Cluster Deletion

Term relations

Subclass of:

Deletion Mutation
modifies some Phenotype of Sickle Cell Disease
modifies some Clinical Phenotype of Beta Thalassemia

Related from:

has causal or contributing genetic variation

Reduced Alpha/Beta Synthesis Ratio
Reduced Alpha/Gamma Synthesis Ratio
Alpha Thalassemia Silent Carrier
Alpha Thalassemia Trait
Alpha Thalassemia
Hemoglobin H

Phenotype of Sickle Cell Disease