Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
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Preferred Name

Sickle Cell Disease-SD
Synonyms

Hemoglobin S-D Disease

Sickle Cell Hemoglobin D Disease

Sickle Cell Disease SD

Haemoglobin S-D Disease

Sickle Cell-Haemoglobin D Disease

Sickle Cell-Hemoglobin D Disease

Hemoglobin Sickle D Disease

Hb SD-Disease
Definitions

A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.
ID

http://purl.obolibrary.org/obo/NCIT_C155310
database cross reference

NCIT:C155310
definition

A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.
definition source

http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C155310
diagnosed using tool

http://purl.obolibrary.org/obo/NCIT_C79903

http://purl.obolibrary.org/obo/NCIT_C15709

http://purl.obolibrary.org/obo/SCDO_0000547
existence in other ontologies

Sufficient
has causal or contributing genetic variation

http://purl.obolibrary.org/obo/SCDO_1000109

http://purl.obolibrary.org/obo/SCDO_1000108

http://purl.obolibrary.org/obo/SCDO_1000114

http://purl.obolibrary.org/obo/SCDO_1000110

http://purl.obolibrary.org/obo/SCDO_1000113

http://purl.obolibrary.org/obo/SCDO_1000112

http://purl.obolibrary.org/obo/SCDO_1000115

http://purl.obolibrary.org/obo/SCDO_1000111

http://purl.obolibrary.org/obo/SCDO_1000039
has mode of inheritance

http://purl.obolibrary.org/obo/SCDO_1000243
hasExactSynonym

Hemoglobin S-D Disease

Sickle Cell Hemoglobin D Disease

Sickle Cell Disease SD

Haemoglobin S-D Disease

Sickle Cell-Haemoglobin D Disease

Sickle Cell-Hemoglobin D Disease

Hemoglobin Sickle D Disease

Hb SD-Disease
prefixIRI

NCIT:C155310
prefLabel

Sickle Cell Disease-SD
previous identifier

SCDO:0001060
rdfs:label

Sickle Cell Disease-SD
treated with

http://purl.obolibrary.org/obo/NCIT_C15238

http://purl.obolibrary.org/obo/SCDO_0000580

http://purl.obolibrary.org/obo/SCDO_0000771

http://purl.obolibrary.org/obo/SCDO_0001329

http://purl.obolibrary.org/obo/SCDO_0000506

http://purl.obolibrary.org/obo/NCIT_C258

http://purl.obolibrary.org/obo/SCDO_0008888

http://purl.obolibrary.org/obo/SCDO_0000147
subClassOf

http://purl.obolibrary.org/obo/SCDO_0008262

http://purl.obolibrary.org/obo/SCDO_1000163
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http://purl.obolibrary.org/obo/NCIT_C155310 BERO SAME_URI