Sickle Cell Disease Ontology Project

HBG1 and/or HBG2 Mutations

http://scdontology.h3abionet.org/ontology/SCDO_0006860

Mutations in the HBG1 and/or HBG2 genes. Such mutations can lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, alpha2gamma2) in the syndrome of hereditary persistence of fetal Hb (HPFH).

Term info

curator note

Request inclusion into relevant ontology. Perhaps add sub-classes of specific mutations as in the dc:source.

dc:creator

SCDO (Jade Hotchkiss)

dc:source

https://www.ncbi.nlm.nih.gov/pubmed/24144231

existence in other ontologies

None

Term relations

Subclass of:

Mutation

Related from:

has contributing genetic variation

Hereditary Persistence of Fetal Hemoglobin Genotype
Hemoglobin Genotype S/HPFH

has causal or contributing genetic variation

Sickle Cell Disease-S/HPFH
Hereditary Persistence of Fetal Hemoglobin