Vitamin D-dependent rickets, type 2
Vitamin D-dependent rickets, type 2
Definition
Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.
Also known as hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor, hereditary vitamin D-resistant rickets, HVDRR, hypocalcemic vitamin D-resistant rickets, VDDR II, VDDR2, VDRR II, vitamin D dependent rickets 2, vitamin D receptor deficiency, vitamin D-dependent rickets type II, vitamin D-dependent rickets, type 2, vitamin D-resistant rickets type II — per MONDO
Also identified as
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Bone element | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Bone element | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Connective tissue | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |