Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

alpha thalassemia
Synonyms

Alpha thalassaemia

alpha-Thalassemia
Definitions

A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_1099
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:D017085

ICD10CM:D56.0

UMLS_CUI:C0002312

SNOMEDCT_US_2023_03_01:191186002

ICD9CM:282.43

GARD:621

MIM:604131

NCI:C34368
definition

A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
has exact synonym

Alpha thalassaemia

alpha-Thalassemia
has_obo_namespace

disease_ontology
id

DOID:1099
in_subset

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

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

alpha thalassemia
notation

DOID:1099
prefLabel

alpha thalassemia
subClassOf

http://purl.obolibrary.org/obo/DOID_10241
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1099 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1099 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1099 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1099 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_1099 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1099 FNS-H SAME_URI
http://purl.obolibrary.org/obo/NCIT_C34368 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D017085 MESH LOOM
http://purl.jp/bio/4/id/200906038771389752 IOBC LOOM
http://purl.obolibrary.org/obo/OMIM_604131 CCO LOOM
http://purl.obolibrary.org/obo/DOID_1099 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1099 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1099 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1099 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1099 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1099 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/604131 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/68913001 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_846 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_846 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_846 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_846 ORDO LOOM
http://identifiers.org/omim/604131 REXO LOOM
http://identifiers.org/omim/604131 GEXO LOOM
http://identifiers.org/omim/604131 RETO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1099 NATPRO LOOM
http://localhost/plosthes.2017-1#6395 PLOSTHES LOOM
http://id.nlm.nih.gov/mesh/D017085 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34368 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alpha_Thalassemia CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017085 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#944 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0017493 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.420.826.100 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0011399 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0011399 KTAO LOOM
http://purl.obolibrary.org/obo/SCDO_0000042 SCDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.365.826.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/D56.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU017933 OMIM LOOM
rgo:29640 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.070.875.100 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002312 OCHV LOOM
http://purl.bioontology.org/ontology/ICD9CM/282.43 ICD9CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036633 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.071.141.150.875.100 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_50 HRDO LOOM
http://www.gamuts.net/entity#alpha_thalassemia GAMUTS REST