Experimental Factor Ontology

Last uploaded: September 16, 2024

Preferred Name	obsolete_hemoglobin E disease
Synonyms	HbE disease Beta thalassemia/hemoglobin E disease
Definitions	Hemoglobin E disease is an autosomal recessive genetic disorder caused by a single point mutation in the hemoglobin molecule.
ID	http://www.ebi.ac.uk/efo/EFO_0004523
Obsolete	true
database_cross_reference	NCIt:C35287
definition	Hemoglobin E disease is an autosomal recessive genetic disorder caused by a single point mutation in the hemoglobin molecule.
definition_citation	http://www.orpha.net/ORDO/Orphanet_2133 http://en.wikipedia.org/wiki/Hemoglobin_E
deprecated	true
has_exact_synonym	HbE disease Beta thalassemia/hemoglobin E disease
label	obsolete_hemoglobin E disease
obsoleted_in_version	2.32
organizational_class	true
preferred label	obsolete_hemoglobin E disease
prefixIRI	efo:EFO_0004523
prefLabel	obsolete_hemoglobin E disease
reason_for_obsolescence	use 'http://www.orpha.net/ORDO/Orphanet_2133' instead. New Label : Hemoglobin E disease
term editor	Helen Parkinson
term replaced by	http://www.orpha.net/ORDO/Orphanet_2133
subClassOf	http://www.w3.org/2002/07/owl#Thing

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0003416	MONDO	LOOM