National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Beta Thalassemia

Synonyms

Thalassemia Major

Beta Thalassemia

Definitions

An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34375

ALT_DEFINITION

An autosomal recessive disorder that affects the production of beta polypeptide chains that are necessary for hemoglobin synthesis. Anemia and failure to thrive are characteristic features.

code

C34375

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009

Contributing_Source

Cellosaurus

CTRP

NICHD

DEFINITION

An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.

Display_Name

Thalassemia Major

Beta Thalassemia

FULL_SYN

Thalassemia Major

Beta Thalassemia

label

Beta Thalassemia

Legacy Concept Name

Thalassemia_Major

Preferred_Name

Beta Thalassemia

prefixIRI

Thesaurus:C34375

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0002875

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35069

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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://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://www.orpha.net/ORDO/Orphanet_848 ORDO LOOM
http://purl.jp/bio/4/id/200906002220212245 IOBC LOOM