Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
Preferred Name

Alpha Thalassemia Trait
Synonyms

Alpha-Thalassemia Trait

Definitions

A condition in which a person has reduced protein production from two of the four alpha-globin alleles. -/- alpha/alpha or -/alpha -/alpha. It can exist in two forms: (1) alpha-thal-1 (alpha alpha/--), involves cis deletion of both alpha genes on the same chromosome; (2) alpha-thal-2 (alpha-/alpha-), involves trans deletion of alpha genes this occurs on different (homologous) chromosomes.

ID

http://purl.obolibrary.org/obo/NCIT_C95535

rdfs:comment

-/- alpha/alpha or -/alpha -/alpha. It can exist in two forms: (1) alpha-thal-1 (alpha alpha/--), involves cis deletion of both alpha genes on the same chromosome; (2) alpha-thal-2 (alpha-/alpha-), involves trans deletion of alpha genes this occurs on different (homologous) chromosomes.

database cross reference

NCIT:C95535

dc:source

https://www.snpedia.com/index.php/Alpha_Thalassemia

definition

A condition in which a person has reduced protein production from two of the four alpha-globin alleles.

definition source

http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C95535

existence in other ontologies

Sufficient

has causal or contributing genetic variation

http://purl.obolibrary.org/obo/SCDO_0001386

has manifestation

http://purl.obolibrary.org/obo/NCIT_C3833

hasExactSynonym

Alpha-Thalassemia Trait

modifies

http://purl.obolibrary.org/obo/SCDO_0000251

http://purl.obolibrary.org/obo/SCDO_0000895

prefixIRI

NCIT:C95535

prefLabel

Alpha Thalassemia Trait

previous identifier

SCDO:0000044

rdfs:label

Alpha Thalassemia Trait

skos:prefLabel

Alpha Thalassemia Trait

subClassOf

http://purl.obolibrary.org/obo/SCDO_0000551

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