Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

beta thalassemia

Definitions

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

ID

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

comment

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

database_cross_reference

ORDO:848

OMIM:613985

NCI:C34375

ICD9CM:282.44

MESH:D017086

ICD10CM:D56.1

UMLS_CUI:C0005283

SNOMEDCT_US_2022_09_01:65959000

GARD:871

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#DO_rare_slim

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

label

beta thalassemia

notation

DOID:12241

prefLabel

beta thalassemia

subClassOf

http://purl.obolibrary.org/obo/DOID_10241

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http://purl.bioontology.org/ontology/LNC/LA18564-7 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/OMIM/613985 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/D017086 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/D56.1 International Classification of Diseases, Version 10 - Clinical Modification LOOM