Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

beta thalassemia
Synonyms
Definitions

A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. Xref MGI. OMIM mapping confirmed by DO. [SN].
ID

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

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

ICD10CM:D56.1

MESH:D017086

SNOMEDCT_US_2023_03_01:65959000

ICD9CM:282.44

UMLS_CUI:C0005283

GARD:871

MIM:613985

NCI:C34375

ORDO:848
definition

A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
has narrower match

MESH:D017086
has_obo_namespace

disease_ontology
id

DOID:12241
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

beta thalassemia
notation

DOID:12241
prefLabel

beta thalassemia
subClassOf

http://purl.obolibrary.org/obo/DOID_10241
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http://purl.obolibrary.org/obo/DOID_12241 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12241 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12241 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_12241 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12241 FNS-H SAME_URI
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 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 MONDO 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