Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Beta-thalassemia

Synonyms
Definitions

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).

ID

http://www.orpha.net/ORDO/Orphanet_848

definition

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848

has_age_of_onset

Childhood

Infancy

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

MeSH:D017086

ICD-11:3A50.2

ICD-10:D56.1

OMIM:613985

MedDRA:10043391

OMIM:603902

UMLS:C0005283

label

Beta-thalassemia

notation

ORPHA:848

part_of

http://www.orpha.net/ORDO/Orphanet_93614

http://www.orpha.net/ORDO/Orphanet_275749

http://www.orpha.net/ORDO/Orphanet_95618

prefixIRI

ORDO:Orphanet_848

prefLabel

Beta-thalassemia

present_in

France AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000

Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000

Europe AND has_point_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_93614

http://www.orpha.net/ORDO/Orphanet_275749

http://www.orpha.net/ORDO/Orphanet_95618

subClassOf

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

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

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_848 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019402 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_848 EFO LOOM
http://purl.obolibrary.org/obo/DOID_12241 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019402 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_12241 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12241 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12241 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12241 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIM_613985 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_51 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D017086 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.365.826.150 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/613985 OMIM LOOM
http://purl.bioontology.org/ontology/ICD9CM/282.44 ICD9CM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/65959000 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.420.826.150 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.070.875.150 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LA18564-7 LOINC LOOM
http://identifiers.org/omim/613985 REXO LOOM
http://identifiers.org/omim/613985 GEXO LOOM
http://identifiers.org/omim/613985 RETO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12241 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0019402 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019402 KTAO LOOM
http://purl.obolibrary.org/obo/OMIT_0017494 OMIT LOOM
http://purl.obolibrary.org/obo/SCDO_0000111 SCDO LOOM
http://bmi.utah.edu/ontologies/hfontology/C0005283 HFO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0005283 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34375 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C34375 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017086 RH-MESH LOOM
http://localhost/plosthes.2017-1#8755 PLOSTHES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036634 PMAPP-PMO LOOM
http://www.gamuts.net/entity#beta_thalassemia GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.071.141.150.875.150 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1830 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/D56.1 ICD10CM LOOM
http://purl.jp/bio/4/id/200906002220212245 IOBC LOOM