Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

delta-beta-thalassemia
Synonyms
Definitions

Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.

ID

http://purl.obolibrary.org/obo/MONDO_0016489

closeMatch

http://identifiers.org/meddra/10012236

database_cross_reference

UMLS:C0271985

ICD9:282.49

MESH:C562716

ICD10CM:D56.2

MedDRA:10012236

MEDGEN:78790

NCIT:C172823

Orphanet:231237

SCTID:16360009

DOID:0080773

GARD:17165

definition

Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.

exactMatch

http://identifiers.org/snomedct/16360009

http://identifiers.org/medgen/78790

http://purl.obolibrary.org/obo/DOID_0080773

http://purl.obolibrary.org/obo/NCIT_C172823

http://purl.obolibrary.org/obo/Orphanet_231237

http://purl.bioontology.org/ontology/ICD10CM/D56.2

http://identifiers.org/mesh/C562716

http://linkedlifedata.com/resource/umls/id/C0271985

id

MONDO:0016489

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

delta-beta-thalassemia

notation

MONDO:0016489

preferred label

delta-beta-thalassemia

prefLabel

delta-beta-thalassemia

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017145

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