hypophosphatemic nephrolithiasis/osteoporosis 2
MONDO:0012851Mondo
Findings
No curated finding names hypophosphatemic nephrolithiasis/osteoporosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
1 feature
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, hp/releases/2026-09-01.
- HyperphosphatemiaMondoHP:0002905
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.
- NHERF1HGNC:11075
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · Laboratory for Molecular Medicine · Unknown · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: hypophosphatemic nephrolithiasis/osteoporosis 2
- Also called
- hypophosphatemic nephrolithiasis/osteoporosis type 2nephrolithiasis/osteoporosis, hypophosphatemic, type 2