Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Hemoglobin E disease

Synonyms
Definitions

Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.

ID

http://www.orpha.net/ORDO/Orphanet_2133

definition

Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

hasDbXref

MedDRA:10053215

UMLS:C0238159

ICD-10:D58.2

ICD-11:3A51.A

label

Hemoglobin E disease

notation

ORPHA:2133

part_of

http://www.orpha.net/ORDO/Orphanet_466066

http://www.orpha.net/ORDO/Orphanet_68364

prefixIRI

ORDO:Orphanet_2133

prefLabel

Hemoglobin E disease

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_466066

http://www.orpha.net/ORDO/Orphanet_68364

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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