Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

beta thalassemia
Synonyms

erythroblastic anemia

Beta thalassemia intermedia

thalassemia major

Beta thalassemia minor

Thalassemias, beta-

erythroblastic anaemia

thalassemia, Hispanic gamma-delta-beta
Definitions

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

http://purl.obolibrary.org/obo/MONDO_0019402
database_cross_reference

NANDO:2201274

MedDRA:10043391

GARD:871

MEDGEN:2611

icd11.foundation:2063292324

NCIT:C34375

NORD:1765

UMLS:C0005283

SCTID:65959000

ICD9:282.49

MESH:D017086

Orphanet:848

DOID:12241

ICD9:282.44
definition

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

erythroblastic anemia

Beta thalassemia intermedia

thalassemia major

Beta thalassemia minor

Thalassemias, beta-

erythroblastic anaemia

thalassemia, Hispanic gamma-delta-beta
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5657

https://github.com/monarch-initiative/mondo/issues/6651
id

MONDO:0019402
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

beta thalassemia
notation

MONDO:0019402
prefLabel

beta thalassemia
skos_closeMatch

http://identifiers.org/meddra/10043391
skos_exactMatch

http://purl.obolibrary.org/obo/DOID_12241

http://purl.obolibrary.org/obo/Orphanet_848

http://identifiers.org/medgen/2611

http://identifiers.org/mesh/D017086

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2063292324

http://purl.obolibrary.org/obo/NCIT_C34375

http://linkedlifedata.com/resource/umls/id/C0005283

http://identifiers.org/snomedct/65959000
treeView

http://purl.obolibrary.org/obo/MONDO_0000984

http://purl.obolibrary.org/obo/MONDO_0017145

http://purl.obolibrary.org/obo/MONDO_0005151
excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005240
subClassOf

http://purl.obolibrary.org/obo/MONDO_0000984

http://purl.obolibrary.org/obo/MONDO_0017145

http://purl.obolibrary.org/obo/MONDO_0005151
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019402 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019402 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019402 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019402 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019402 KTAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12241 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12241 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12241 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12241 DDSS 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019402 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019402 EFO 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
rgo:34787 GAMUTS LOOM
http://localhost/plosthes.2017-1#8755 PLOSTHES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036634 PMAPP-PMO 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://www.orpha.net/ORDO/Orphanet_848 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_848 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_848 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_848 ORDO LOOM
http://purl.jp/bio/4/id/200906002220212245 IOBC LOOM