Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
Preferred Name

Abnormal Hemoglobin

Synonyms

Abnormal Hemoglobin Variant

Abnormal Variant of Hemoglobin

Abnormal Hemoglobins

Definitions

Hemoglobin characterized by structural alterations within the molecule that confer an inherited health condition phenotype. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.

ID

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

curator note

Suggest HPO to update their term description and to move terms related to hemoglobin concentration below "Abnormal Hemoglobin Concentration". Include as a sub-class "Hemoglobin S-Providence"?

dc:source

http://purl.obolibrary.org/obo/HP_0011902

definition

Hemoglobin characterized by structural alterations within the molecule that confer an inherited health condition phenotype. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.

definition source

http://www.reference.md/files/D006/mD006455.html

existence in other ontologies

Suggest update to description

hasExactSynonym

Abnormal Hemoglobin Variant

Abnormal Variant of Hemoglobin

Abnormal Hemoglobins

prefixIRI

SCDO:0003807

prefLabel

Abnormal Hemoglobin

rdfs:label

Abnormal Hemoglobin

subClassOf

http://purl.obolibrary.org/obo/HP_0001877

http://purl.obolibrary.org/obo/SCDO_0006921

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