Mondo Disease Ontology

Last uploaded: May 9, 2024
Jump to:
loading...
Preferred Name

beta-thalassemia HBB/LCRB
Synonyms

thalassemia, beta

thalassemia, hispanic gamma-delta-beta

beta-thalassemia
Definitions

OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
ID

http://purl.obolibrary.org/obo/MONDO_0013517
comment

OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095).
database_cross_reference

SCDO:0000251

OMIM:613985
definition

Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
exactMatch

https://omim.org/entry/613985
has material basis in germline mutation in

http://identifiers.org/hgnc/4827
has_exact_synonym

thalassemia, beta

thalassemia, hispanic gamma-delta-beta
has_related_synonym

beta-thalassemia
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521
id

MONDO:0013517
in_subset

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

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

http://purl.obolibrary.org/obo/mondo#otar
label

beta-thalassemia HBB/LCRB
notation

MONDO:0013517
prefLabel

beta-thalassemia HBB/LCRB
treeView

http://purl.obolibrary.org/obo/MONDO_0019402
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019402
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display