osteopetrosis, autosomal recessive 9
MONDO:0957262Mondo
Findings
No curated finding names osteopetrosis, autosomal recessive 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
14 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Cortical sclerosisHPOHP:0005652
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 1 reported patient
- HyperkalemiaHPOHP:0002153
- 1 of 1 reported patient
- HyperparathyroidismHPOHP:0000843
- 1 of 1 reported patient
- Increased bone mineral densityHPOHP:0011001
- 1 of 1 reported patient
- OsteopetrosisHPOHP:0011002
- 1 of 1 reported patient
- PapilledemaHPOHP:0001085
- 1 of 1 reported patient
- Pathologic fractureHPOHP:0002756
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
Show the remaining 2
- Stage 3 chronic kidney diseaseHPOHP:0012625
- 1 of 1 reported patient
- Thick skull baseHPOHP:0002737
- 1 of 1 reported patient
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.
- SLC4A2HGNC:11028
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · LiferaOmics · Autosomal recessive · 2026
Where it sits
- A kind of