Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024

Preferred Name	beta-thalassemia HBB/LCRB
Synonyms	beta-thalassemia
Definitions	Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
ID	http://purl.obolibrary.org/obo/MONDO_0013517
database_cross_reference	SCDO:0000251 OMIM:613985
disease has basis in dysfunction of	http://identifiers.org/hgnc/4827
exactMatch	http://identifiers.org/omim/613985
has related synonym	beta-thalassemia
id	MONDO:0013517
imported from	http://purl.obolibrary.org/obo/mondo.owl
label	beta-thalassemia HBB/LCRB
notation	MONDO:0013517
prefLabel	beta-thalassemia HBB/LCRB
textual definition	Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019402

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0013517	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0013517	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0013517	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0013517	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013517	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013517	DOVES	LOOM