Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Beta Thalassemia
Synonyms
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://purl.obolibrary.org/obo/NCIT_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
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
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C132009

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C118168
label

Beta Thalassemia
Legacy Concept Name

Thalassemia_Major
Preferred_Name

Beta Thalassemia
prefixIRI

NCIT:C34375
prefLabel

Beta Thalassemia
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0002875
subClassOf

http://purl.obolibrary.org/obo/NCIT_C35069
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http://purl.obolibrary.org/obo/DOID_12241 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019402 MONDO LOOM
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 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://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