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Cell Culture Ontology
Last uploaded:
July 23, 2014
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| Id | http://www.ebi.ac.uk/efo/EFO_0700066
http://www.ebi.ac.uk/efo/EFO_0700066
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|---|---|
| Preferred Name | sickle cell disease and related diseases |
| Definitions |
Sickle cell disease (SCD) is an umbrella term that defines a group of inherited diseases (including sickle cell anaemia (SCA), HbSC and HbSβ-thalassaemia) characterized by mutations in the gene encoding the haemoglobin subunit β (HBB).
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Sickle cell disease (SCD) is an umbrella term that defines a group of inherited diseases (including sickle cell anaemia (SCA), HbSC and HbSβ-thalassaemia) characterized by mutations in the gene encoding the haemoglobin subunit β (HBB). |
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| preferred label |
sickle cell disease and related diseases
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| label |
sickle cell disease and related diseases
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| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.
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| prefLabel |
sickle cell disease and related diseases
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| database_cross_reference |
Orphanet:275752
UMLS:CN202572
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| prefixIRI |
efo:EFO_0700066
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| subClassOf | |
| type |
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