Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Delta-beta-thalassemia

Synonyms
Definitions

Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.

ID

http://www.orpha.net/ORDO/Orphanet_231237

definition

Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

UMLS:C0271985

MedDRA:10012236

ICD-11:3A50.3

OMIM:141749

MeSH:C562716

ICD-10:D56.2

label

Delta-beta-thalassemia

notation

ORPHA:231237

part_of

http://www.orpha.net/ORDO/Orphanet_231230

prefixIRI

ORDO:Orphanet_231237

prefLabel

Delta-beta-thalassemia

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_231230

subClassOf

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

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

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