beta-thalassemia HBB/LCRB

Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. [ SCDO:0000251 ]

Synonyms: thalassemia, hispanic gamma-delta-beta beta-thalassemia HBB/LCRB thalassemia, beta

Preferred root terms

All terms

This is just here as a test because I lose it

database cross reference

Subsets

rare, nord_rare, clingen

IAO 0000233

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

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).

exactMatch

https://omim.org/entry/613985

has related synonym

beta-thalassemia

MONDO:0013517

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013517

Subclass of: