vitamin D-dependent rickets type 2B

Term ID

DOID:0080885

Synonyms

Definition

A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/

References

• OMIM:600785
• ORDO:93160

Ontology

Human Disease   ( DOID:0080885 )