vitamin D-dependent rickets, type 2
Findings
No curated finding names vitamin D-dependent rickets, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0019642), read 2026-09-29. CC BY 4.0.
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bone structureHPOHP:0003330
- Very frequent (80% to 99% of cases)
- Bone cystHPOHP:0012062
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Coarse metaphyseal trabecularizationHPOHP:0100670
- Very frequent (80% to 99% of cases)
- HyperparathyroidismHPOHP:0000843
- Very frequent (80% to 99% of cases)
- HypocalcemiaHPOHP:0002901
- Very frequent (80% to 99% of cases)
- HypophosphatemiaHPOHP:0002148
- Very frequent (80% to 99% of cases)
- Joint dislocationHPOHP:0001373
- Very frequent (80% to 99% of cases)
- OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
- OsteomalaciaHPOHP:0002749
- Very frequent (80% to 99% of cases)
- Recurrent fracturesHPOHP:0002757
- Very frequent (80% to 99% of cases)
- Abnormal adipose tissue morphologyHPOHP:0009124
- Frequent (30% to 79% of cases)
Show the remaining 16
- Abnormal hip bone morphologyHPOHP:0003272
- Frequent (30% to 79% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Frequent (30% to 79% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- Abnormality of the skinHPOHP:0000951
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VDRHGNC:12679
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (2)
Other names
11 names
Resolves to: vitamin D-dependent rickets, type 2
- Also called
- hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptorhereditary vitamin D-resistant ricketsHVDRRhypocalcemic vitamin D-resistant ricketsVDDR IIVDDR2VDRR IIvitamin D dependent rickets 2vitamin D receptor deficiencyvitamin D-dependent rickets type IIvitamin D-resistant rickets type II