osteopetrosis, autosomal dominant 4
MONDO:0980938Mondo
Findings
No curated finding names osteopetrosis, autosomal dominant 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Broad jawHPOHP:0012802
- 3 of 3 reported patients
- HyperostosisHPOHP:0100774
- 1 of 1 reported patient
- Knee painHPOHP:0030839
- 2 of 2 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 1 reported patient
- Neck painHPOHP:0030833
- 1 of 1 reported patient
- OsteopetrosisHPOHP:0011002
- 5 of 5 reported patients
- Patellar dislocationHPOHP:0002999
- 1 of 1 reported patient
- Spinal canal stenosisHPOHP:0003416
- 1 of 1 reported patient
- Torus palatinusHPOHP:0100789
- 5 of 5 reported patients
- Agenesis of permanent maxillary lateral incisorHPOHP:0011050
- 3 of 4 reported patients
- HeadacheHPOHP:0002315
- 2 of 4 reported patients
- Abnormal circulating calcium concentrationHPOHP:0004363
- 0 of 3 reported patients
Show the remaining 7
- Abnormal circulating phosphate ion concentrationHPOHP:0100529
- 0 of 3 reported patients
- Abnormal dental enamel morphologyHPOHP:0000682
- 0 of 1 reported patient
- Abnormal number of permanent teethHPOHP:0011044
- 0 of 1 reported patient
- Carious teethHPOHP:0000670
- 0 of 1 reported patient
- Decreased circulating parathyroid hormone levelHPOHP:0031817
- 0 of 3 reported patients
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 0 of 3 reported patients
Where it sits
- A kind of