Human Phenotype Ontology 
Grandparent Node:
expandAbnormal hemoglobin (HP:0011902)help
Parent Node:
expandImbalanced hemoglobin synthesis (HP:0005560)help
..Starting node
..expandReduced beta/alpha synthesis ratio (HP:0011906)help
Term ID: 11906
Name: Reduced beta/alpha synthesis ratio
Synonym:
Definition: A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.
Comments:
Reference: HP:0011906
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandReduced alpha/beta synthesis ratio (HP:0011907) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011906HP:0011906Reduced beta/alpha synthesis ratio0HBB CL E G H30434827OMIM:613985BETA-THALASSEMIA.580
HP:0011906HP:0011906Reduced beta/alpha synthesis ratio0HBB CL E G H30434827ORPHA:90039Hemoglobin D disease580
HP:0011906HP:0011906Reduced beta/alpha synthesis ratio0HBB-LCR CL E G H109580095OMIM:613985BETA-THALASSEMIA.1


Genes (2) :HBB HBB-LCR

Diseases (2) :OMIM:613985 ORPHA:90039
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.