Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
Preferred Name

Hemoglobin S

Synonyms

Sickle Haemoglobin

HbS Haemoglobin

Sickle Hemoglobin

HbS Hemoglobin

Haemoglobin S

Hb S

HbS

Definitions

An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.

ID

http://purl.obolibrary.org/obo/SCDO_0000514

database cross reference

MESH:D006451

definition

An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.

definition source

http://purl.bioontology.org/ontology/MESH/D006451

existence in other ontologies

Sufficient

has causal or contributing genetic variation

http://purl.obolibrary.org/obo/SCDO_1000039

hasExactSynonym

Sickle Haemoglobin

HbS Haemoglobin

Sickle Hemoglobin

HbS Hemoglobin

Haemoglobin S

Hb S

HbS

prefixIRI

SCDO:0000514

prefLabel

Hemoglobin S

previous identifier

SCDO:0000514

rdfs:label

Hemoglobin S

subClassOf

http://purl.obolibrary.org/obo/SCDO_0003807

http://purl.obolibrary.org/obo/SCDO_0000007

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